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Shareef AA, Kheder AH, Albarzinji N, Karim KJ, Smail SW, Mahmood AA, Amin K. Oxidative markers and SOD variant: predictors of autism severity and susceptibility. Future Sci OA 2025; 11:2483628. [PMID: 40160095 PMCID: PMC11959902 DOI: 10.1080/20565623.2025.2483628] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/14/2024] [Accepted: 02/26/2025] [Indexed: 04/02/2025] Open
Abstract
BACKGROUND This study examines the relationship between oxidative stress, anti-oxidative markers, and the Ala16Val SOD2 polymorphism in children with autism spectrum disorder (ASD) to better understand ASD severity and susceptibility. MATERIAL AND METHODS The study included 80 children (40 with ASD and 40 controls) from Erbil City, Iraq. RESULTS Serum antioxidant markers, such as superoxide dismutase (SOD) and glutathione peroxidase (GPX), were significantly lower in ASD patients compared to controls (P = 0.036 and P < 0.001, respectively), while markers of oxidative damage, including malondialdehyde (MDA), nitric oxide (NO), and cytochrome C, were significantly elevated (P < 0.001). Regression analysis revealed reduced SOD and GPX activities were strongly associated with increased autism severity, as measured by the childhood autism rating scale (CARS), while elevated NO and cytochrome C levels also correlated positively with higher CARS scores. Although the Ala16Val SOD polymorphism was not significantly associated with ASD risk, logistic regression showed no connection between SOD genotypes and serum SOD levels. CONCLUSION These findings suggest oxidative stress and impaired antioxidant defense play critical roles in ASD severity.
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Affiliation(s)
| | - Azad Hasan Kheder
- Physiotherapy Department Erbil Health and Medical Technical College, Erbil Polytechnic University, Erbil, Iraq
| | | | - Karim Jalal Karim
- Department of Medical Laboratory Science, Faculty of Science and Health, Koya University, Erbil, Iraq
| | - Shukur Wasman Smail
- Department of Biology, College of Science, Salahaddin University-Erbil, Erbil, Iraq
- College of Pharmacy, Cihan University-Erbil, Erbil, Iraq
| | | | - Kawa Amin
- College of Medicine, University of Sulaimani, Sulaymaniyah, Iraq
- Department of Medical Science, Respiratory, Allergy and Sleep Research, Uppsala University, Uppsala, Sweden
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2
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Martinez B, Peplow PV. Autism spectrum disorder: difficulties in diagnosis and microRNA biomarkers. Neural Regen Res 2025; 20:2776-2786. [PMID: 39314171 PMCID: PMC11826456 DOI: 10.4103/nrr.nrr-d-24-00712] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2024] [Revised: 08/17/2024] [Accepted: 09/05/2024] [Indexed: 09/25/2024] Open
Abstract
We performed a PubMed search for microRNAs in autism spectrum disorder that could serve as diagnostic biomarkers in patients and selected 17 articles published from January 2008 to December 2023, of which 4 studies were performed with whole blood, 4 with blood plasma, 5 with blood serum, 1 with serum neural cell adhesion molecule L1-captured extracellular vesicles, 1 with blood cells, and 2 with peripheral blood mononuclear cells. Most of the studies involved children and the study cohorts were largely males. Many of the studies had performed microRNA sequencing or quantitative polymerase chain reaction assays to measure microRNA expression. Only five studies had used real-time polymerase chain reaction assay to validate microRNA expression in autism spectrum disorder subjects compared to controls. The microRNAs that were validated in these studies may be considered as potential candidate biomarkers for autism spectrum disorder and include miR-500a-5p, -197-5p, -424-5p, -664a-3p, -365a-3p, -619-5p, -664a-3p, -3135a, -328-3p, and -500a-5p in blood plasma and miR-151a-3p, -181b-5p, -320a, -328, -433, -489, -572, -663a, -101-3p, -106b-5p, -19b-3p, -195-5p, and -130a-3p in blood serum of children, and miR-15b-5p and -6126 in whole blood of adults. Several important limitations were identified in the studies reviewed, and need to be taken into account in future studies. Further studies are warranted with children and adults having different levels of autism spectrum disorder severity and consideration should be given to using animal models of autism spectrum disorder to investigate the effects of suppressing or overexpressing specific microRNAs as a novel therapy.
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Affiliation(s)
- Bridget Martinez
- Department of Pharmacology, University of Nevada-Reno, Reno, NV, USA
- Department of Medicine, University of Nevada-Reno, Reno, NV, USA
| | - Philip V. Peplow
- Department of Anatomy, University of Otago, Dunedin, New Zealand
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3
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Gurbuz Ozgur B, Canlan Ozaydin B, Eren R, Uyar U, Ozaydin Y, Aksu H. The Relationship Between Avoidant/Restrictive Food Intake Disorder in Children Diagnosed with Autism Spectrum Disorder and Orthorexia Nervosa in Their Mothers. J Autism Dev Disord 2025:10.1007/s10803-025-06818-8. [PMID: 40244507 DOI: 10.1007/s10803-025-06818-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/27/2025] [Indexed: 04/18/2025]
Abstract
The aim is to examine the relationship between Avoidant/Restrictive Food Intake Disorder (ARFID) symptoms and sensory sensitivities in children diagnosed with Autism Spectrum Disorder (ASD), as well as the relationship between maternal orthorexia nervosa (ON) and ARFID, and to identify the factors influencing ARFID. The symptom severity of 104 children was assessed using the Childhood Autism Rating Scale (CARS), maternal ON symptoms with ORTO-11, ARFID symptoms with the Nine-Item Avoidant/Restrictive Food Intake Disorder Screening Tool (NIAS), and sensory sensitivities with the Eyuboglu Sensory Reactivity Scale (ESRS). Multiple regression analyzed predictors of NIAS scores, and moderator analysis examined whether ORTO-11 moderated the ESRS-NIAS relationship. ON was present in 58% of the mothers. Mothers with ON had significantly higher total NIAS scores and NIAS Fear subscale scores. A positive and statistically significant relationship was found between the CARS scores and the hyporeactivity and sensory-seeking subscales of the ESRS scale. When NIAS was taken as the dependent variable, a significant regression relationship was found between CARS-9 and ORTO-11. However, ORTO-11 does not play a moderating role in the effect of ESRS on NIAS. ARFID symptoms are predicted by maternal ON symptoms and CARS-9 scores in children. We emphasize the importance of evaluating the eating attitudes and food perspectives of caregivers when atypical eating behaviors are identified in the clinical follow-up of children diagnosed with ASD. Since the study was conducted solely with mothers', further research is needed to examine the effects of ON symptoms in fathers and other caregivers.
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Affiliation(s)
- Borte Gurbuz Ozgur
- Department of Child and Adolescent Psychiatry, Aydın Adnan Menderes University Medical Faculty, Aydın, 09100, Türkiye.
| | - Buket Canlan Ozaydin
- Department of Child and Adolescent Psychiatry, Dr. Behcet Uz Pediatric Diseases and Surgery Training and Research Hospital, Izmir, Türkiye
| | - Rabia Eren
- Department of Child and Adolescent Psychiatry, Aydın Adnan Menderes University Medical Faculty, Aydın, 09100, Türkiye
| | - Ufuk Uyar
- Department of Child and Adolescent Psychiatry, Aydın Adnan Menderes University Medical Faculty, Aydın, 09100, Türkiye
| | - Yigit Ozaydin
- Department of Child and Adolescent Psychiatry, Ege University Medical Faculty, Izmir, Türkiye
| | - Hatice Aksu
- Department of Child and Adolescent Psychiatry, Izmir Tınaztepe University Medical Faculty, Izmir, Türkiye
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4
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Tezcan ME, Ataş AE, Göncüoğlu A, Ekici F, Kozanhan B. Are olfactory bulb volume decreases and olfactory sulcus deepening associated with atypical sensory behaviours in children with autism spectrum disorders? J Psychiatr Res 2025; 184:176-186. [PMID: 40054234 DOI: 10.1016/j.jpsychires.2025.02.063] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/05/2024] [Revised: 01/09/2025] [Accepted: 02/28/2025] [Indexed: 04/09/2025]
Abstract
BACKGROUND The aim of this study was to investigate the olfactory bulb (OB), fusiform gyrus (FG) and amygdala volumes and superior temporal sulcus (STS) and olfactory sulcus depths (OSD) using magnetic resonance imaging in children with autism spectrum disorders (ASDs) in comparison with those in typically developing (TD) controls and their effects on autism symptom severity. METHODS This study included 79 children with ASDs and 100 TD controls aged 4-10 years. The Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (AuBC) were used to measure ASD severity. RESULTS The ASD group had significantly lower OB, FG and amygdala (right, left and total) volumes and significantly higher right OSD than the TD group. However, no significant difference in STS depth was found between the groups. Left and total OB volumes and right, left and total OSD were positively correlated with AuBC use of body and objects use scores, while left and total OSD were negatively correlated with AuBC language skill scores. Right, left and total amygdala volumes were positively correlated with CARS scores and right FG volume was positively correlated with AuBC use of body and objects use scores. After controlling for potential confounders such as total brain volume, age and sex, the results of the analysis of covariance remained unchanged. FG volume was the strongest predictor of ASD in the multiple logistic regression model. CONCLUSIONS This study suggests that OB, FG and amygdala volumes and right OSD may play a role in the etiopathogenesis of cortical development in children with ASD.
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Affiliation(s)
- Mustafa Esad Tezcan
- Department of Child and Adolescent Psychiatry, Konya City Hospital, Karatay, Konya, 42020, Turkey.
| | - Abdullah Enes Ataş
- Department of Radiology, Konya City Hospital, Karatay, Konya, 42020, Turkey.
| | - Alper Göncüoğlu
- Department of Radiology, Konya Numune Hospital, Karatay, Konya, 42020, Turkey.
| | - Fatih Ekici
- Department of Psychiatry, Konya City Hospital, Karatay, Konya, 42020, Turkey.
| | - Betül Kozanhan
- Department of Anesthesiology and Reanimation, Konya City Hospital, Karatay, Konya, 42020, Turkey.
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5
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Manjur SM, Diaz LRM, Lee IO, Skuse DH, Thompson DA, Marmolejos-Ramos F, Constable PA, Posada-Quintero HF. Detecting Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Using Multimodal Time-Frequency Analysis with Machine Learning Using the Electroretinogram from Two Flash Strengths. J Autism Dev Disord 2025; 55:1365-1378. [PMID: 38393437 DOI: 10.1007/s10803-024-06290-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/13/2024] [Indexed: 02/25/2024]
Abstract
PURPOSE Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are conditions that similarly alter cognitive functioning ability and challenge the social interaction, attention, and communication skills of affected individuals. Yet these are distinct neurological conditions that can exhibit diverse characteristics which require different management strategies. It is desirable to develop tools to assist with early distinction so that appropriate early interventions and support may be tailored to an individual's specific requirements. The current diagnostic procedures for ASD and ADHD require a multidisciplinary approach and can be lengthy. This study investigated the potential of electroretinogram (ERG), an eye test measuring retinal responses to light, for rapid screening of ASD and ADHD. METHODS Previous studies identified differences in ERG amplitude between ASD and ADHD, but this study explored time-frequency analysis (TFS) to capture dynamic changes in the signal. ERG data from 286 subjects (146 control, 94 ASD, 46 ADHD) was analyzed using two TFS techniques. RESULTS Key features were selected, and machine learning models were trained to classify individuals based on their ERG response. The best model achieved 70% overall accuracy in distinguishing control, ASD, and ADHD groups. CONCLUSION The ERG to the stronger flash strength provided better separation and the high frequency dynamics (80-300 Hz) were more informative features than lower frequency components. To further improve classification a greater number of different flash strengths may be required along with a discrimination comparison to participants who meet both ASD and ADHD classifications and carry both diagnoses.
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Affiliation(s)
| | | | - Irene O Lee
- Behavioral and Brain Sciences Unit, Population Policy and Practice Program, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
| | - David H Skuse
- Behavioral and Brain Sciences Unit, Population Policy and Practice Program, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
| | - Dorothy A Thompson
- Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- UCL Great Ormond Street Institute for Child Health, University College London, London, UK
| | | | - Paul A Constable
- College of Nursing and Health Sciences, Flinders University, Caring Futures Institute, Adelaide, Australia
| | - Hugo F Posada-Quintero
- Department of Biomedical Engineering, University of Connecticut, 06269, Storrs, CT, USA.
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6
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Zhao Y, Lu F, Ding R, Zhu D, Zhang R, Sun S, He P, Zheng X. Prevalence, incidence, and characteristics of autism spectrum disorder among children in Beijing, China. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2025; 29:884-895. [PMID: 39470024 DOI: 10.1177/13623613241290388] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/30/2024]
Abstract
The prevalence of autism spectrum disorder in the world has increased over the last decade, but the prevalence, incidence, and characteristics of autism spectrum disorder in China were not well understood. Using administrative data, we aimed to estimate the prevalence and incidence of autism spectrum disorder and describe the co-occurring conditions in preschoolers in Beijing, China. The study focused on 0- to 6-year-old children with registered residence in Beijing, using cohorts derived from the Beijing Municipal Health Big Data and Policy Research Center. We conducted a detailed analysis of autism spectrum disorder prevalence among the cohorts, comparing estimates across 2 to 3 years for the same birth cohort (4 years, 5 years). For the 6-year-old cohort, we obtained 1-year prevalence estimates in 2021. Annual incidence rate was also calculated. The prevalence in 6-year-old children in 2021 was 10.5 per 1000 (95% confidence interval = 9.7-10.9). The male-to-female prevalence ratio was 4.3. Between 40% and 43% of preschool children had at least one co-occurring condition. The incidence for children 6 years old and under was 0.11% in 2019 and increased to 0.18% in 2021. Both the prevalence and incidence rates in Beijing were comparable to those reported in developed countries.Lay abstractIt is the first study to explore the prevalence, incidence, and co-occurring conditions of autism spectrum disorder for the preschoolers in China. The prevalence and incidence of autism spectrum disorder has increased in recent decades. Autism spectrum disorder has become an important public concern worldwide. In this study, all hospital confirmed cases had an associated diagnosis (International Classification of Diseases, 10th revision (ICD-10) codes: F84.0, 84.5, F84.9). In total, 4457 children aged 4-6 years were identified as having autism spectrum disorder. In 2021, 1 in 95 children aged 6 years, 1 in 115 children aged 5 years, and 1 in 130 children aged 4 years were estimated to have autism spectrum disorder in Beijing. The incidence was 0.11% in 2019 and increased to 0.18% in 2021. There has been a great emphasis on the importance of early autism spectrum disorder diagnosis in large cities in China.
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Affiliation(s)
- Yanan Zhao
- Peking University, China
- City University of Macau, China
| | - Feng Lu
- Beijing Municipal Health Big Data and Policy Research Center, China
| | | | | | | | - Siwei Sun
- Peking University Sixth Hospital, China
| | | | - Xiaoying Zheng
- Chinese Academy of Medical Sciences & Peking Union Medical College, China
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7
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Long J, Niu M, Liao X, Han K, Chen J, Su W, Wang X, Liu J, Zhang Y, Zhang H. Feasibility, safety, and efficacy of high-dose intermittent theta burst stimulation in children with autism spectrum disorder: study protocol for a pilot randomized sham-controlled trial. Front Psychiatry 2025; 16:1549982. [PMID: 40230821 PMCID: PMC11995711 DOI: 10.3389/fpsyt.2025.1549982] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/08/2025] [Accepted: 03/17/2025] [Indexed: 04/16/2025] Open
Abstract
Background Autism spectrum disorders (ASD) are common neurodevelopmental disorders, mainly caused by disrupted excitation/inhibition balance and synaptic plasticity. Intermittent theta burst stimulation (iTBS) is a variant of excitatory repetitive transcranial magnetic stimulation, inducing long-term potentiation-like plasticity. In recent years, there has been a growing interest in high-dose iTBS as a therapeutic tool for psychiatric disorders. We aim to preliminarily investigate the feasibility, safety, and efficacy of high-dose iTBS in children with autism spectrum disorder (ASD). Methods A randomized controlled pilot trial with a 4-week intervention will be conducted. Forty children with ASD will be randomized into either the intervention or control group. The intervention group will receive 5400-pulse iTBS per day, while the control group will receive sham iTBS. Feasibility will be evaluated through recruitment, intervention adherence, and assessment completion. Safety will be assessed by comparing the rates of drop-outs attributed to adverse events and the rates of serious adverse events The efficacy outcomes include the Autism Behavior Checklist, Social Responsiveness Scale, 2nd Edition, Childhood Autism Rating Scale, Autism Treatment Evaluation Checklist and Repetitive Behavior Scale-Revised. Resting-state electroencephalogram and functional near-infrared spectroscopy will be employed to quantify alterations in functional brain connectivity and cerebral haemodynamics. Salivary levels of oxytocin, growth hormone, insulin-like growth factor 1, and insulin-like growth factor binding protein 3 are measured to reflect the biochemical response to iTBS. These indicators will be assessed at baseline and at the end of the intervention. Discussion This trial will evaluate the feasibility, safety, and efficacy of high-dose iTBS treatment in children with ASD. The proposed study will provide pilot data to inform the feasibility and design of larger sample-size trials. Clinical trial registration http://www.chictr.org.cn, identifier ChiCTR2400089757.
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Affiliation(s)
- Junzi Long
- School of Rehabilitation, Capital Medical University, Beijing, China
- Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
- Division of Brain Sciences, Changping Laboratory, Beijing, China
| | - Maoyuan Niu
- School of Rehabilitation, Capital Medical University, Beijing, China
- China Autism Rehabilitation Research Center, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
| | - Xingxing Liao
- School of Rehabilitation, Capital Medical University, Beijing, China
- Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
- Division of Brain Sciences, Changping Laboratory, Beijing, China
| | - Kaiyue Han
- School of Rehabilitation, Capital Medical University, Beijing, China
- Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
| | - Jiarou Chen
- Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
- The Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China
| | - Wenlong Su
- SanBo Brain Hospital, Capital Medical University, Beijing, China
| | - Xianna Wang
- China Autism Rehabilitation Research Center, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
| | - Jianjun Liu
- China Autism Rehabilitation Research Center, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
| | - Yan Zhang
- China Autism Rehabilitation Research Center, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
| | - Hao Zhang
- School of Rehabilitation, Capital Medical University, Beijing, China
- Department of Neurorehabilitation, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
- Division of Brain Sciences, Changping Laboratory, Beijing, China
- China Autism Rehabilitation Research Center, Beijing Boai Hospital, China Rehabilitation Research Center, Beijing, China
- The Second Affiliated Hospital and Yuying Children’s Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China
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Mou QH, Zhang Q, Chen L, Dai Y, Wei H, Jia FY, Hao Y, Li L, Zhang J, Wu LJ, Ke XY, Yi MJ, Hong Q, Chen JJ, Fang SF, Wang YC, Wang Q, Chen J, Li TY, Yang T. Gender specific influence of serotonin on core symptoms and neurodevelopment of autism spectrum disorders: A multicenter study in China. Child Adolesc Psychiatry Ment Health 2025; 19:35. [PMID: 40158142 PMCID: PMC11954278 DOI: 10.1186/s13034-025-00892-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/21/2025] [Accepted: 03/26/2025] [Indexed: 04/01/2025] Open
Abstract
BACKGROUND High serotonin (5-hydroxytryptamine [5-HT]) blood levels are the most reliable and frequently replicated biomarker for autism spectrum disorders (ASDs). However, their differential influence on core ASD symptoms in males and females remains unclear. This study aimed to investigate the changes in 5-HT levels in children with ASD to assess and compare its influence on the core symptoms and neurodevelopment of boys and girls. METHODS Herein, 1,457 ASD children and 1,305 typically developing (TD) controls (age = 2-7 years) were enrolled from 13 cities across China. Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS) were used to evaluate the ASD symptoms in children, and the revised Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016) was used to evaluate their neurodevelopment. The 5-HT serum levels were measured by high-performance liquid chromatography-tandem mass spectrometry. RESULTS In boys with ASD, increased serum 5-HT levels correlated with high scores on SRS and CARS and with communication warning behavior of CNBS-R2016. Conversely, concomitant decline was observed in the scores on the general, language, gross motor, adaptive behavior, and personal-social quotients. Notably, no differences were found in girls with ASD. CONCLUSIONS Children with ASD, especially boys, presented higher serum 5-HT levels compared with TD children. Additionally, increased 5-HT content is considerably positively associated with core ASD symptoms and negatively associated with neurodevelopment in boys with ASD. Overall, this study highlights the gender bias in patients with ASD regarding 5-HT serum levels, underscoring its influence on ASD prevalence in a sex-specific manner. TRIAL REGISTRATION This study has been approved by the Ethics Committee of the Children's Hospital of Chongqing Medical University (approval number: (2018) IRB (STUDY) NO.121). Additionally, this study is registered with the China Clinical Trial Registry (Registration Number: ChiCTR2000031194).
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Affiliation(s)
- Qiu-Hong Mou
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Qian Zhang
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Li Chen
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Ying Dai
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Hua Wei
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Fei-Yong Jia
- Department of developmental and behavioral pediatrics, The First Hospital of Jilin University, Changchun, China
| | - Yan Hao
- Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Ling Li
- Department of Children Rehabilitation, Hainan Women and Children'S Medical Center, Haikou, China
| | - Jie Zhang
- Children Health Care Center, Xi'an Children'S Hospital, Xi'an, China
| | - Li-Jie Wu
- Department of Children'S and Adolescent Health, Public Health College of Harbin Medical University, Harbin, China
| | - Xiao-Yan Ke
- Child Mental Health Research Center of Nanjing Brain Hospital, Nanjing, China
| | - Ming-Ji Yi
- Department of Child Health Care, The Affiliated Hospital of Qingdao University, Qingdao, China
| | - Qi Hong
- Maternal and Child Health Hospital of Baoan, Shenzhen, China
| | - Jin-Jin Chen
- Department of Child Healthcare, Shanghai Children'S Hospital, Shanghai Jiao Tong University, Shanghai, China
| | - Shuan-Feng Fang
- Children'S Hospital Affiliated to Zhengzhou University, Zhengzhou, China
| | - Yi-Chao Wang
- NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China
| | - Qi Wang
- Deyang Maternity & Child Healthcare Hospital, Deyang, Sichuan, China
| | - Jie Chen
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Ting-Yu Li
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China
| | - Ting Yang
- Growth, Development and Mental Health Center of Children and Adolescents, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children'S Hospital of Chongqing Medical University, Chongqing, China.
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9
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Fu S, Wang X, Chen Z, Huang Z, Feng Y, Xie Y, Li X, Yang C, Xu S. Abnormalities in brain complexity in children with autism spectrum disorder: a sleeping state functional MRI study. BMC Psychiatry 2025; 25:257. [PMID: 40108560 PMCID: PMC11921608 DOI: 10.1186/s12888-025-06689-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/24/2024] [Accepted: 03/06/2025] [Indexed: 03/22/2025] Open
Abstract
BACKGROUND AND OBJECTIVE The theory of complexity loss in neurodivergent brain is widely acknowledged. However, the findings of autism research do not seem to align well with this theory. We aim to investigate the brain complexity in children with ASD (Autism Spectrum Disorders) compared with the TD (Typical Developed) children in sleeping state. METHOD 42 ASD children and 42 TD children were imaged using sleep-state functional magnetic resonance imaging (ss-fMRI), and brain complexity was analyzed by employing sample entropy (SampEn) and transfer entropy (TE). For the ASD group, we also investigated the relationship of symptom severity with SampEn and with TE. RESULTS In compared with TD group, ASD group showed significant increased SampEn in the right inferior frontal gyrus. However, in the group of TD, 13 pairs of brain regions exhibit higher TE compared to the ASD group. In the ASD group, the TE of 5 pairs of brain regions is higher than in the TD group. CONCLUSION This sleeping-state fMRI study provide evidence that ASD children exhibited aberrant brain complexity in compare with the TD children. The complexity of the autistic brain is composed of aberrant randomness in brain activity and anomalous information transmission between brain regions. We believe that brain complexity in ASD is a highly valuable area of research. Differences in the entropy of local brain regions, as well as in the transfer entropy between brain regions, may be related to the brain complexity observed in children with ASD.
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Affiliation(s)
- Shishun Fu
- Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Xiang Wang
- Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Ziwei Chen
- Department of Radiology, The Third People's Hospital of Chengdu, Chengdu, China
| | - Zengfa Huang
- Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Yin Feng
- Department of Radiology, Clinical Medical College and Affiliated Hospital of Chengdu University, Chengdu, China
| | - Yuanliang Xie
- Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Xiang Li
- Department of Radiology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
| | - Chunlan Yang
- Department of Hematology and Oncology, Shenzhen Children's Hospital, Shenzhen, China
| | - Shoujun Xu
- Department of Radiology, Shenzhen Children's Hospital, Shenzhen, China.
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Meral Y, Bıkmazer A, Örengül AC, Çakıroğlu S, Altınbilek E, Bakır F, Bıkmazer B, Saleh A, Görmez V. The Psychometric Properties of Autism Mental Status Examination (AMSE) in Turkish Sample. J Autism Dev Disord 2025:10.1007/s10803-025-06761-8. [PMID: 40035971 DOI: 10.1007/s10803-025-06761-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/11/2025] [Indexed: 03/06/2025]
Abstract
Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental disorder, and early diagnosis plays a pivotal role in prognosis and management. This study aims to examine the psychometric properties of the Autism Mental Status Exam (AMSE), a tool that shows great promise in terms of clinical utility, within the Turkish population. This study conducted in a cohort of 307 Turkish children aged 17 to 120 months with suspected ASD. Participants underwent a multidisciplinary assessment based on DSM-5 criteria for diagnosis and were categorized into ASD and non-ASD groups. Subsequently, the research team conducted blinded administrations of the AMSE and Childhood Autism Rating Scale (CARS). Additionally, a subset of 61 children underwent retesting for AMSE and CARS after three weeks for temporal stability. The results revealed an optimal cut-off score of 4 for AMSE, yielding sensitivity and specificity rates of 84% and 97%, respectively. Internal consistency, indicated by a Cronbach's alpha of 0.80, was very good. The test-retest reliability, assessed using the Intraclass Correlation Coefficient (ICC), was excellent (ICC = 0.959). The inter-rater reliability also showed excellent agreement (ICC = 0.997). Furthermore, a significant correlation was observed between the AMSE and CARS scores (r = 0.94, p < 0.001). Notably, the AMSE scores were significantly different between the ASD and non-ASD groups (p < 0.001) with a large effect size (Cohen's d = 1.40). The findings of this study underscore the utility of AMSE as a valid and reliable tool for Turkish children with robust psychometric properties.
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Affiliation(s)
- Yavuz Meral
- Istanbul Medeniyet University, School of Medicine, Department of Child and Adolescent Psychiatry, Istanbul, Türkiye
| | - Alperen Bıkmazer
- Istanbul Medeniyet University, School of Medicine, Department of Child and Adolescent Psychiatry, Istanbul, Türkiye.
| | - Abdurrahman Cahid Örengül
- Istanbul University, Istanbul Faculty of Medicine, Department of Child and Adolescent Psychiatry, Istanbul, Türkiye
| | - Süleyman Çakıroğlu
- Altınbaş University, School of Medicine, Child and Adolescent Psychiatry, Istanbul, Türkiye
| | - Esra Altınbilek
- Göztepe Prof. Dr. Süleyman Yalçın City Hospital, Istanbul, Türkiye
| | - Fulya Bakır
- Istanbul Medeniyet University, School of Medicine, Department of Child and Adolescent Psychiatry, Istanbul, Türkiye
| | - Bilgihan Bıkmazer
- Marmara University Training and Research Hospital, Pediatric Neurology Clinic, Istanbul, Türkiye
| | - Ayman Saleh
- George Washington University, Children's National Hospital, Psychiatry Department, Washington, USA
| | - Vahdet Görmez
- Hamad Bin Khalifa University, College of Islamic Studies, Doha, Qatar
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11
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Tian P, Zhu X, Liu Z, Bian B, Jia F, Dou L, Jie Y, Lv X, Zhao T, Li D. Effects of vitamin D on brain function in preschool children with autism spectrum disorder: a resting-state functional MRI study. BMC Psychiatry 2025; 25:198. [PMID: 40033268 DOI: 10.1186/s12888-025-06534-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/02/2024] [Accepted: 01/24/2025] [Indexed: 03/05/2025] Open
Abstract
BACKGROUND Previous studies indicate vitamin D impacts autism spectrum disorder (ASD), but its relationship with brain function is unclear. This study investigated the association between serum 25-hydroxyvitamin D [25(OH)D] levels and brain function in preschool children with ASD using resting-state functional magnetic resonance imaging (rs-fMRI), and explored correlations with clinical symptoms. METHODS A total of 226 ASD patients underwent rs-fMRI scanning and serum 25(OH)D testing. Clinical symptoms were assessed using Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC). Patients were categorized into mild and severe groups based on the CARS, and further divided into normal (NVD), insufficient (VDI), and deficient (VDD) serum 25(OH)D levels. Changes in brain function among these groups were analyzed using regional homogeneity (ReHo), with ABC scores used for correlation analysis. RESULTS In mild ASD, ReHo increased in the right postcentral gyrus and left precuneus in the VDI and VDD groups compared to NVD, and decreased in the bilateral middle cingulate gyrus and left superior frontal gyrus in the VDD group compared to VDI. In severe ASD, ReHo decreased in the right middle occipital gyrus and increased in the right insula in the VDI group compared to NVD, and increased in the right superior frontal gyrus in the VDD group compared to VDI. Correlation analysis revealed that in mild ASD, ReHo in the right postcentral gyrus was positively correlated with body and object use scores in the NVD and VDI groups, while ReHo in the right middle cingulate gyrus was negatively correlated with relating scores in the VDD and VDI groups. In severe ASD, ReHo in the right insula was positively correlated with language scores in the NVD and VDI groups. CONCLUSIONS ASD patients with lower serum 25(OH)D levels show multiple brain functional abnormalities, with specific brain region alterations linked to symptom severity. These findings enhance our understanding of vitamin D's impact on ASD and suggest that future research may explore its therapeutic potential.
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Affiliation(s)
- Pu Tian
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Xiaona Zhu
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Zhuohang Liu
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Bingyang Bian
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Feiyong Jia
- Department of Developmental and Behavioral Pediatrics, The First Hospital of Jilin University, No. 71, Xinmin Street, Changchun, 130021, Jilin, China
| | - Le Dou
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Yige Jie
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Xuerui Lv
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Tianyi Zhao
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China
| | - Dan Li
- Department of Radiology, The First Hospital of Jilin University, Changchun, 130012, Jilin, China.
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12
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Osredkar J, Kumer K, Godnov U, Jekovec Vrhovšek M, Vidova V, Price EJ, Javornik T, Avguštin G, Fabjan T. Urinary Metabolomic Profile in Children with Autism Spectrum Disorder. Int J Mol Sci 2025; 26:2254. [PMID: 40076876 PMCID: PMC11900373 DOI: 10.3390/ijms26052254] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2024] [Revised: 01/22/2025] [Accepted: 01/23/2025] [Indexed: 03/14/2025] Open
Abstract
Autism spectrum disorder (ASD) has been associated with disruptions in tryptophan (TRP) metabolism, affecting the production of key neuroactive metabolites. Investigating these metabolic pathways could yield valuable biomarkers for ASD severity and progression. We included 44 children with ASD and 44 healthy children, members of the same family. The average age in the ASD group was 10.7 years, while the average age in the control group was 9.4 years. Urinary tryptophan metabolites were quantified via liquid chromatography-mass spectrometry operating multiple reaction monitoring (MRM). Urinary creatinine was analyzed on an Advia 2400 analyzer using the Jaffe reaction. Statistical comparisons were made between ASD subgroups based on CARS scores. Our findings indicate that children with ASD have higher TRP concentrations (19.94 vs. 16.91; p = 0.04) than their siblings. Kynurenine (KYN) was found at higher levels in children with ASD compared to children in the control group (82.34 vs. 71.20; p = 0.86), although this difference was not statistically significant. The ASD group showed trends of higher KYN/TRP ratios and altered TRP/ indole-3-acetic acid (IAA) and TRP/5-hydroxyindoleacetic acid (5-HIAA) ratios, correlating with symptom severity. Although the numbers of the two groups were different, our findings suggest that mild and severe illnesses involve separate mechanisms. However, further comprehensive studies are needed to validate these ratios as diagnostic tools for ASD.
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Affiliation(s)
- Joško Osredkar
- Institute of Clinical Chemistry and Biochemistry, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (J.O.); (K.K.); (T.J.)
- Faculty of Pharmacy, University of Ljubljana, 1000 Ljubljana, Slovenia
| | - Kristina Kumer
- Institute of Clinical Chemistry and Biochemistry, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (J.O.); (K.K.); (T.J.)
| | - Uroš Godnov
- Faculty of Mathematics, Natural Sciences and Information Technologies, University of Ljubljana, 6000 Koper, Slovenia;
| | - Maja Jekovec Vrhovšek
- Center for Autism, Unit of Child Psychiatry, University Children’s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia;
| | - Veronika Vidova
- RECETOX, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic; (V.V.); (E.J.P.)
- Environmental Exposure Assessment Research Infrastructure-Czech Republic (EIRENE-CZ), 60200 Brno, Czech Republic
| | - Elliott James Price
- RECETOX, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic; (V.V.); (E.J.P.)
- Environmental Exposure Assessment Research Infrastructure-Czech Republic (EIRENE-CZ), 60200 Brno, Czech Republic
| | - Tara Javornik
- Institute of Clinical Chemistry and Biochemistry, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (J.O.); (K.K.); (T.J.)
| | - Gorazd Avguštin
- Department of Microbiology, Biotechnical Faculty, University of Ljubljana, 1230 Domžale, Slovenia;
| | - Teja Fabjan
- Institute of Clinical Chemistry and Biochemistry, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (J.O.); (K.K.); (T.J.)
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Wang M, He K, Zhang L, Xu D, Li X, Wang L, Peng B, Qiu A, Dai Y, Zhao C, Jiang H. Assessment of glymphatic function and white matter integrity in children with autism using multi-parametric MRI and machine learning. Eur Radiol 2025; 35:1623-1636. [PMID: 39843628 DOI: 10.1007/s00330-025-11359-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/09/2024] [Revised: 11/26/2024] [Accepted: 12/12/2024] [Indexed: 01/24/2025]
Abstract
OBJECTIVES To assess glymphatic function and white matter integrity in children with autism spectrum disorder (ASD) using multi-parametric MRI, combined with machine learning to evaluate ASD detection performance. MATERIALS AND METHODS This retrospective study collected data from 110 children with ASD (80 exploratory, 43 validation) and 68 typically developing children (50 exploratory, 18 validation) from two centers. The automated diffusion tensor imaging along the perivascular space (aDTI-ALPS), fractional anisotropy (FA), cerebrospinal fluid volume, and perivascular space (PVS) volume indices were extracted from DTI, three-dimensional T1-weighted, and T2-weighted images. Intergroup comparisons were conducted using t-tests, Mann-Whitney U-test, and tract-based spatial statistics. Correlation analysis assessed the relationship between glymphatic function, white matter integrity, and clinical scales. Machine learning models based on MRI indices were developed using the AutoGluon framework. RESULTS The PVS volume (p < 0.001) was larger, and aDTI-ALPS index (p < 0.001) was lower in children with ASD compared to typically developing children. FA values were reduced in the ASD group and positively correlated with aDTI-ALPS index. The aDTI-ALPS index correlated with ASD severity (r = -0.27, p = 0.02) and developmental delays (r = 0.63, p < 0.001). Mediation analysis indicated the aDTI-ALPS index partially mediated the relationship between white matter integrity and developmental delay. The MRI-based model achieved an area under the curve of 0.84 for ASD diagnosis. CONCLUSION Analyzing glymphatic function and white matter integrity enhances understanding of ASD's neurobiological underpinnings. The multi-parametric MRI, combined with machine learning, can facilitate the early detection of ASD. KEY POINTS Question How can multi-parametric MRI based on the glymphatic system improve early diagnosis of autism spectrum disorder (ASD) beyond the limitations of current behavioral assessments? Findings Glymphatic dysfunction and disruptions in white matter integrity were associated with clinical symptoms of ASD. Multi-parametric MRI with machine learning can improve early ASD detection. Clinical relevance Multi-parametric MRI, focusing on glymphatic function and white matter integrity, enhances the diagnostic accuracy of ASD by serving as an objective complement to clinical scales.
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Affiliation(s)
- Miaoyan Wang
- Department of Radiology, Affiliated Children's Hospital of Jiangnan University, Wuxi, China
| | - Keyi He
- School of Biomedical Engineering (Suzhou), Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China
- Suzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, China
| | - Lili Zhang
- Department of Child Healthcare, Affiliated Children's Hospital of Jiangnan University, Wuxi, China
| | - Dandan Xu
- Department of Radiology, Affiliated Children's Hospital of Jiangnan University, Wuxi, China
| | - Xianjun Li
- Department of Radiology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China
| | - Lei Wang
- Department of Child Healthcare, Affiliated Children's Hospital of Jiangnan University, Wuxi, China
| | - Bo Peng
- Suzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, China
| | - Anqi Qiu
- Department of Health Technology and Informatics, Hong Kong Polytechnic University, Hong Kong, China
- Department of Biomedical Engineering, Johns Hopkins University, Baltimore, USA
- Department of Biomedical Engineering, National University of Singapore, Singapore, Singapore
| | - Yakang Dai
- Suzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, China.
| | - Cailei Zhao
- Department of Radiology, Shenzhen Children's Hospital, Shenzhen, China.
| | - Haoxiang Jiang
- Department of Radiology, Affiliated Children's Hospital of Jiangnan University, Wuxi, China.
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14
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Yıldız Bayındır B, Coskun M, Karayagmurlu A. Sleep disturbances in autistic youth with and without bipolar disorder: A matched case-control study. Sleep Med 2025; 127:152-157. [PMID: 39864401 DOI: 10.1016/j.sleep.2025.01.022] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/15/2024] [Revised: 01/19/2025] [Accepted: 01/20/2025] [Indexed: 01/28/2025]
Abstract
BACKGROUND Sleep disturbances are common in individuals with autism spectrum disorder (ASD) or bipolar disorder (BD). However, to the best of our knowledge, there has been no study investigating prevalence and features of sleep disorders in youth with ASD with and without comorbid BD. The aim of this case-controlled study was to investigate sleep disturbances in autistic youth with and without comorbid BD. METHODS The study included 43 individuals with both ASD and BD as the case group, and 43 age and gender-matched participants with ASD but no mood disorders as the control group. Both groups were assessed using the Sleep Disturbance Scale for Children (SDSC), the Childhood Autism Rating Scale (CARS), and the Aberrant Behavior Checklist (ABC). RESULTS The case group exhibited significantly higher levels of sleep breathing disorders, disorders of arousal, disorders of excessive somnolence, and sleep hyperhidrosis on the SDSC compared to the control group (p < 0.05). Partial correlation analysis revealed a significant association between total SDSC scores and total ABC scores in the case and control groups (r = 0.424, p = 0.005; r = 0.629, p < 0.001, respectively) CONCLUSIONS: Sleep disturbances are common in youth with ASD with further increased rates in the presence of comorbid BD. Sleep disturbances are also associated with more behavioral problems among youth with ASD regardless of comorbid BD diagnosis. Clinicians working with youth with ASD should routinely assess sleep habits and related problems and should give particular attention in the presence of comorbid mood disorders. This study highlights the importance of recognizing and managing sleep disturbances in this unique population.
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Affiliation(s)
| | - Murat Coskun
- Istanbul University, Istanbul Medical Faculty, Child and Adolescent Psychiatry Department, Istanbul, Turkey
| | - Ali Karayagmurlu
- Istanbul University, Istanbul Medical Faculty, Child and Adolescent Psychiatry Department, Istanbul, Turkey
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15
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Price K, Clarke MT, Swettenham J. Assessing aspects of early social communication in non-speaking children with bilateral cerebral palsy. Disabil Rehabil 2025; 47:1525-1533. [PMID: 38975724 DOI: 10.1080/09638288.2024.2376339] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2023] [Revised: 06/28/2024] [Accepted: 06/29/2024] [Indexed: 07/09/2024]
Abstract
PURPOSE Research suggests that rates for autism may be higher in cerebral palsy than in the general population. For those with severe bilateral physical impairment (GMFCS level IV and V) and little or no speech, describing a profile of social communication skills has been difficult because there are currently no assessments for early social communication specifically tailored for these children. Our aim was to explore the assessment of aspects of joint attention and social reciprocity in this group of children with CP. METHODS We compared the performance of children with bilateral CP on carefully designed assessments of joint attention and social responsiveness with groups of children with Down syndrome and autism. All three groups were matched for chronological age and mental age. RESULTS Approximately 30% of the children with bilateral CP had early social communication scores similar to the autistic children. The remaining 70% of children with CP had a range of early social communication scores similar to the children with Down syndrome. CONCLUSION It is possible to assess key early social communication skills in non-speaking children with bilateral motor disability. This could provide insights to help clinicians and caregivers as they discuss abilities and explore potential areas for intervention.
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Affiliation(s)
- Katie Price
- Division of Psychology and Language Science, University College London, UK
| | - Michael T Clarke
- Department of Speech, Language and Hearing Sciences, San Francisco State University, San Francisco, CA, USA
| | - John Swettenham
- Division of Psychology and Language Science, University College London, UK
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16
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Hu DX, Lu CM, Si XY, Wu QT, Wu LH, Zhong HJ, He XX. Effects of gastrointestinal symptoms on the efficacy of washed microbiota transplantation in patients with autism. Front Pediatr 2025; 13:1528167. [PMID: 40017709 PMCID: PMC11865235 DOI: 10.3389/fped.2025.1528167] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/14/2024] [Accepted: 01/24/2025] [Indexed: 03/01/2025] Open
Abstract
Objective Washed microbiota transplantation (WMT) has emerged as a promising therapeutic strategy for autism spectrum disorder (ASD), though the factors that influence its efficacy remain poorly understood. This study explores the impact of gastrointestinal (GI) symptoms on the effectiveness of WMT in ASD. Methods Clinical data encompassing ASD symptoms, GI disturbances, and sleep disorders were collected from patients with ASD undergoing WMT. The therapeutic impact of WMT and the contributing factors to its efficacy were assessed. Results WMT significantly reduced scores on the Aberrant Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Sleep Disturbance Scale for Children (SDSC), alongside a significant reduction in the incidence of constipation, abnormal stool forms, and diarrhea (all p < 0.05). After six courses of WMT, substantial reductions were observed in ABC, CARS, and SDSC scores, with increased treatment courses correlating with greater improvement (p < 0.05). Multiple linear regression analysis revealed that WMT efficacy was enhanced in patients with pre-existing GI symptoms (diarrhea: β = 0.119, p < 0.001; abnormal stool form: β = 0.201, p < 0.001) and those receiving a higher number of treatment courses (β = 0.116, p < 0.001). Additionally, the analysis indicated that treatment outcomes were more favorable in patients who had not undergone adjunct interventions (β = -0.041, p = 0.002), had a longer disease duration (β = 0.168, p = 0.007), and exhibited more severe disease symptoms (β = 0.125, p < 0.001). Conclusion WMT significantly alleviates both ASD and GI symptoms, along with sleep disturbances, in affected individuals. Six treatment courses resulted in notable improvement, with increased course numbers further improving therapeutic outcomes. Furthermore, pre-treatment GI symptoms, such as diarrhea and abnormal stool forms, may influence the effectiveness of WMT. Notably, patients who did not receive additional interventions, had a prolonged disease duration, and presented with more severe symptoms experienced markedly improved treatment responses.
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Affiliation(s)
- Dong-Xia Hu
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
| | - Cai-Mei Lu
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
| | - Xin-Yu Si
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
| | - Qing-Ting Wu
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
| | - Li-Hao Wu
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
| | - Hao-Jie Zhong
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
- Department of Hepatobiliary and Pancreatic Surgery, The First Affiliated Hospital of Shenzhen University, Shenzhen Second People’s Hospital, Shenzhen, China
| | - Xing-Xiang He
- Department of Gastroenterology, Research Center for Engineering Techniques of Microbiota-Targeted Therapies of Guangdong Province, The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, China
- Guangdong Provincial Key Laboratory for Research and Evaluation of Pharmaceutical Preparations, Guangdong Provincial Engineering Center of Topical Precise Drug Delivery System, Guangdong Pharmaceutical University, Guangzhou, China
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Yurumez E, Cikili-Uytun M, Kaymak B, Dogan O, Ozturk HH, Baysar-Kanoglu BN, Oztop DB. Neurodegeneration in Autism: A Study of Clusterin, Very Long-Chain Fatty Acids, and Carnitine. J Mol Neurosci 2025; 75:18. [PMID: 39932645 DOI: 10.1007/s12031-024-02303-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2024] [Accepted: 12/17/2024] [Indexed: 04/02/2025]
Abstract
The clinical identification of regression phenomena in ASD lacks specific biological or laboratory criteria and is often based on family history and highly subjective observations by clinicians. The present study aimed to investigate the potential role of plasma clusterin (CLU), very long-chain fatty acids (VLCFA), and carnitine as biomarkers of neurodegeneration in children with autism spectrum disorder (ASD) with and without regression. By exploring these biomarkers, we sought to provide insights into mitochondrial dysfunction, glial activation, and lipid metabolism, which may contribute to the pathophysiology of ASD and aid in the early diagnosis and intervention of regression phenomena in ASD. Ninety children aged 2-6 years were included: 30 with autism spectrum disorder (ASD), 30 with regressive ASD, and 30 healthy controls. Psychiatric assessments were conducted using DSM-5 criteria, CARS, ABC, RBS-R, and ASSQ scales. Regression in ASD was evaluated retrospectively using a modified ADI-R questionnaire. Fasting blood samples were collected, and plasma clusterin (CLU), VLCFA, and carnitine levels were measured. Statistical analyses were performed using MANOVA to assess the effect of group differences on dependent biochemical variables. Serum clusterin and carnitine levels showed no significant differences between groups. However, C22 VLCFA levels were significantly higher in both autism groups compared to controls (p = 0.04), with post hoc analysis indicating the difference between the non-regressive and control groups (p = 0.02). Serum carnitine was positively correlated with stereotypic behaviors subscale scores (r = 0.37, p = 0.004) and total scores (r = 0.35, p = 0.006) of RBS-R. Our study provides insights into the complexities of biomarker research in autism spectrum disorder (ASD), highlighting the challenges in identifying consistent biological markers for regression and non-regression phenotypes. Although no significant findings were observed, further biomarker studies are essential to distinguish possible endophenotypes, improve early diagnosis, and uncover potential therapeutic targets in ASD.
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Affiliation(s)
- Esra Yurumez
- Department of Child and Adolescent Psychiatry, Faculty of Medicine, Ankara University, Ankara, 06620, Mamak, Turkey
- Autism Intervention and Research Center, Ankara University, Ankara, Turkey
| | - Merve Cikili-Uytun
- Department of Child and Adolescent Psychiatry, Faculty of Medicine, Ankara University, Ankara, 06620, Mamak, Turkey
- Autism Intervention and Research Center, Ankara University, Ankara, Turkey
| | - Banu Kaymak
- Department of Child and Adolescent Psychiatry, Faculty of Medicine, Ankara University, Ankara, 06620, Mamak, Turkey.
- Autism Intervention and Research Center, Ankara University, Ankara, Turkey.
| | - Ozlem Dogan
- Department of Biochemistry, Faculty of Medicine, Ankara University, Ankara, Turkey
| | - Humeyra Hilal Ozturk
- Department of Child and Adolescent Psychiatry, Bayburt State Hospital, Bayburt, Turkey
| | | | - Didem Behice Oztop
- Department of Child and Adolescent Psychiatry, Faculty of Medicine, Ankara University, Ankara, 06620, Mamak, Turkey
- Autism Intervention and Research Center, Ankara University, Ankara, Turkey
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18
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Xing Y, Huang S, Zhao Y, Wu X. Effects of group sports activities on physical activity and social interaction abilities of children with autism spectrum disorders. Front Psychol 2025; 15:1496660. [PMID: 39980883 PMCID: PMC11840914 DOI: 10.3389/fpsyg.2024.1496660] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/15/2024] [Accepted: 12/18/2024] [Indexed: 02/22/2025] Open
Abstract
Introduction Group sports activities have been demonstrated to have an impact on the physical activity and social interaction abilities of children with autism spectrum disorder (ASD). Methods Thus, this work, taking different types of group sports as the primary variable, explored the impact of 12-week group sports activities on the physical activity and social interaction abilities of children with ASD. A quasi-experimental design was used to divide 21 children with ASD into Experimental group (N = 11) and Control group 1 (N = 10), while healthy children of the same age were selected as Control group 2 (N = 12). The experimental group performed group sports activities for 60 min/time, 4 times/week, for a total of 12 weeks, while the control group maintained the traditional sports activities of Peizhi School. Physical activity was monitored using a three-axis accelerometer (Model: ActiGraph GT3X+), and social interaction ability was measured using the playground observation of peer engagement (POPE) observation scale to evaluate the social interaction states of children in the experimental group after the physical activities. Results and discussion After the intervention, the sitting time of children in the experimental group was significantly reduced (t = -12.735, p < 0.001, Cohen d = 2.75), and the time of moderate and high-intensity physical activity was significantly increased (t = -8.79, p < 0.001, Cohen d = 1.82). In social interaction ability, the duration of loneliness was significantly reduced (t = -2.567, p < 0.017, Cohen d = 0.57), and the duration of joint participation (t = -3.009, p < 0.007, Cohen d = 0.02) and the regular game (t = -2.511, p < 0.026, Cohen d = 0.46) were significantly increased, respectively. 4 weeks after the intervention, the sedentary behavior and loneliness of the experimental group both continued to decrease. Group physical activities can improve the physical activity levels and social interaction skills of children with ASD and have a good effect on the maintenance.
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Affiliation(s)
- Yu Xing
- School of Physical Education, Hainan University, Haikou, China
- Hainan Provincial Key Laboratory of Sports and Health Promotion, Key Laboratory of Emergency and Trauma, Ministry of Education, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, China
| | - Shuaibin Huang
- School of Physical Education, Hainan University, Haikou, China
| | - Yatong Zhao
- School of Physical Education, Hainan University, Haikou, China
| | - Xueping Wu
- School of Physical Education and Training, Shanghai University of Sport, Shanghai, China
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Matsushima T, Toji N, Wada K, Shikanai H, Izumi T. Embryonic exposure to valproic acid and neonicotinoid deteriorates the hyperpolarizing GABA shift and impairs long-term potentiation of excitatory transmission in the local circuit of intermediate medial mesopallium of chick telencephalon. Cereb Cortex 2025; 35:bhaf044. [PMID: 40037548 DOI: 10.1093/cercor/bhaf044] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2024] [Revised: 01/20/2025] [Accepted: 01/22/2025] [Indexed: 03/06/2025] Open
Abstract
Embryonic exposure to valproic acid and imidacloprid (a neonicotinoid insecticide) impairs filial imprinting in hatchlings, and the deteriorating effects of valproic acid are mitigated by post-hatch injection of bumetanide, a blocker of the chloride intruder Na-K-2Cl cotransporter 1. Here, we report that these exposures depolarized the reversal potential of local GABAergic transmission in the neurons of the intermediate medial mesopallium, the pallial region critical for imprinting. Furthermore, exposure increased field excitatory post-synaptic potentials in pre-tetanus recordings and impaired long-term potentiation (LTP) by low-frequency tetanic stimulation. Bath-applied bumetanide rescued the impaired LTP in the valproic acid slices, whereas VU0463271, a blocker of the chloride extruder KCC2, suppressed LTP in the control slices, suggesting that hyperpolarizing GABA action is necessary for the potentiation of excitatory synaptic transmission. Whereas a steep increase in the gene expression of KCC2 appeared compared to NKCC1 during the peri-hatch development, significant differences were not found between valproic acid and control post-hatch chicks in these genes. Instead, both valproic acid and imidacloprid downregulated several transcriptional regulators (FOS, NR4A1, and NR4A2) and upregulated the RNA component of signal recognition particles (RN7SL1). Despite different chemical actions, valproic acid and imidacloprid could cause common neuronal effects that lead to impaired imprinting.
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Affiliation(s)
- Toshiya Matsushima
- Department of Biology, Faculty of Science, Hokkaido University, N10 W8 Kita-ku, 060-0810 Sapporo, Japan
- Faculty of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Kanazawa 1757, 061-0293 Tobetsu, Japan
- Center for Mind/Brain Sciences, University of Trento, Piazza Manifattura 1, 38068 Rovereto, Italy
| | - Noriyuki Toji
- Department of Biology, Faculty of Science, Hokkaido University, N10 W8 Kita-ku, 060-0810 Sapporo, Japan
| | - Kazuhiro Wada
- Department of Biology, Faculty of Science, Hokkaido University, N10 W8 Kita-ku, 060-0810 Sapporo, Japan
| | - Hiroki Shikanai
- Faculty of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Kanazawa 1757, 061-0293 Tobetsu, Japan
| | - Takeshi Izumi
- Faculty of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Kanazawa 1757, 061-0293 Tobetsu, Japan
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20
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Paveenakiattikhun S, Likhitweerawong N, Sanguansermsri C. EEG findings and clinical severity and quality of life in non-epileptic patients with autism spectrum disorders. Child Neuropsychol 2025; 31:255-265. [PMID: 38805362 DOI: 10.1080/09297049.2024.2360651] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/26/2023] [Accepted: 05/17/2024] [Indexed: 05/30/2024]
Abstract
Electroencephalogram (EEG) abnormalities could be seen in up to 60% of non-epileptic children with autism spectrum disorder (ASD). They have been used as biomarkers of ASD severity. The objective of our study is to identify EEG abnormalities in children with different degrees of ASD severity based on the Autism Treatment Evaluation Checklist (ATEC). We also want to assess the quality of life for children with ASD. All of the children underwent at least one hour of sleep-deprived EEG. Forty-five children were enrolled, of whom 42 were male. EEG abnormalities were found in 10 (22.2%) children, predominantly in the bilateral frontal areas. There were no differences in EEG findings among the mild, moderate, and severe ASD groups. The severity of ASD was associated with female sex (p-value = 0.013), ASD with attention deficit hyperactivity disorder (ADHD) (p-value = 0.032), ASD children taking medications (p-value = 0.048), and a lower Pediatric Quality of Life Inventory (PedsQL) (p-value <0.001). Social and emotional domains were the most problematic for health-related quality of life in ASD children, according to parent reports of PedsQL. Further studies with a larger sample size will help to clarify the potential associations between EEG abnormalities and the severity of ASD, as well as the impact on quality of life.
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Affiliation(s)
- Sirada Paveenakiattikhun
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University Hospital, Chiang Mai, Thailand
| | - Narueporn Likhitweerawong
- Child and Development Division, Department of Pediatrics, Faculty of Medicine, Chiang Mai University Hospital, Chiang Mai, Thailand
| | - Chinnuwat Sanguansermsri
- Neurology Division, Department of Pediatrics, Faculty of Medicine, Chiang Mai University Hospital, Chiang Mai, Thailand
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21
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Devecioğlu HB, Tan Ç, Mısır EG, Esen HTÇ, Özbek B, Kültür SEÇ. Investigation of Neuronal-Astroglial Injury Proteins and MMP-9 Serum Levels in Autism Spectrum Disorder and Their Relationship With Autistic Regression. Int J Dev Neurosci 2025; 85:e70005. [PMID: 39957513 DOI: 10.1002/jdn.70005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/26/2024] [Revised: 01/21/2025] [Accepted: 01/28/2025] [Indexed: 02/18/2025] Open
Abstract
OBJECTIVE This study compared serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 between children with Autism Spectrum Disorder (ASD) and controls, focusing on their association with regression in ASD. We hypothesized that neuroinflammation and neuronal/astroglial damage markers would be higher in the ASD group than in controls and even more elevated in the regressive ASD subgroup compared to the non-regressive subgroup. METHODS The study included 50 children with ASD (ages 4-10) and 30 healthy children. Participants underwent the K-SADS-PL diagnostic interview, CARS, a semi-structured interview for regression, ABC, AuBC, CPRS-RS and SRS assessments. Serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 were measured using flow cytometry and ELISA. RESULTS Serum levels of S100B, GFAP, UCHL-1, NF-H and MMP-9 showed no significant differences between the ASD and control groups. Within the ASD group, no notable differences were found in sociodemographic, clinical characteristics, or serum marker levels between those with and without regression. CONCLUSION The findings obtained in this study suggested that it is necessary to question whether the peripheral circulation can represent changes in central nervous system and to review the existence of autistic regression as a separate entity in ASD in terms of clinical features and etiopathogenesis.
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Affiliation(s)
| | - Çağman Tan
- Faculty of Medicine, Department of Immunology, Erciyes University, Kayseri, Turkey
| | - Ekin Günal Mısır
- Department of Child and Adolescent Psychiatry, Ankara Education and Research Hospital, Ankara, Turkey
| | | | - Begüm Özbek
- Faculty of Medicine, Department of Immunology, Hacettepe University, Ankara, Turkey
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22
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Wang W, Cheng C, Xu Z, Xue L, Fu W, Zhao J. Five-year-old children with autism spectrum disorders struggle with disengaging attention. Cogn Process 2025:10.1007/s10339-025-01256-x. [PMID: 39888465 DOI: 10.1007/s10339-025-01256-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2024] [Accepted: 01/09/2025] [Indexed: 02/01/2025]
Abstract
It is known that individuals with autism spectrum disorders (ASD) exhibit impairments in shifting attention. However, previous studies have primarily focused on school-aged children and adults with ASD. It remains unclear whether attentional shifting impairments emerge at an early age. Additionally, it is uncertain which specific process-engagement or disengagement-is affected in individuals with ASD. This study investigated the time course of attentional shifting in preschool-aged children with ASD using a Posner cue-target paradigm. The cue-target onset asynchrony was systematically manipulated to reveal both the early facilitation effect of attentional capture (i.e., engagement) and the later inhibitory aftereffect, commonly referred to as inhibition of return (IOR). Results showed an early facilitation effect in both ASD and typically developing (TD) children, indicating that ASD children engaged attention to salient spatial locations. In contrast to TD children, no reliable IOR effect was observed in ASD children, suggesting difficulties in disengaging attention. These findings indicate a selective impairment in attentional disengagement among preschool-aged children with ASD and support the need for early intervention programs focusing on attentional shifting.
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Affiliation(s)
- Wei Wang
- Jing Hengyi School of Education, Hangzhou Normal University, Yuhangtang Road 2318, Hangzhou, Zhejiang, China
- Zhejiang Philosophy and Social Science Laboratory for Research in Early Development and Childcare, Hangzhou Normal University, Hangzhou, 311121, Zhejiang, China
| | - Chun Cheng
- College of Education, Zhejiang University, Hangzhou, China
| | - Zhiyu Xu
- School of Educational Science, Hunan Normal University, Hunan, China
| | - Licheng Xue
- School of Preschool Education, Hangzhou Polytechnic, Hangzhou, China
| | - Wanlu Fu
- Department of Psychology, University of Padua, Padua, Italy
| | - Jing Zhao
- Jing Hengyi School of Education, Hangzhou Normal University, Yuhangtang Road 2318, Hangzhou, Zhejiang, China.
- Zhejiang Philosophy and Social Science Laboratory for Research in Early Development and Childcare, Hangzhou Normal University, Hangzhou, 311121, Zhejiang, China.
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23
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Kılınç K, Türkoğlu S, Kocabaş R, Güler HA, Yılmaz Ç, Büyükateş A. What are the levels and interactions of neuroligin-1, neuroligin-3, and inflammatory cytokines (IL-6, IL-8) in children diagnosed with autism spectrum disorder? Prog Neuropsychopharmacol Biol Psychiatry 2025; 137:111275. [PMID: 39875012 DOI: 10.1016/j.pnpbp.2025.111275] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/29/2024] [Revised: 01/20/2025] [Accepted: 01/24/2025] [Indexed: 01/30/2025]
Abstract
Autism spectrum disorder (ASD) is characterized by deficits in social interaction, restricted interests, and repetitive behaviors. Several genes, including synaptic proteins and environmental risk factors, play a role in the etiology of autism. We aimed to evaluate the relationship between neuroligin-1 (NLGN-1) and neuroligin-3 (NLGN-3) levels, which are neuronal cell adhesion molecules (CAMs), and inflammatory cytokine (IL-6, IL-8) levels with disease severity and symptom clusters and with each other in children with ASD. Eighty children diagnosed with autism who met the inclusion criteria and sixty-five typically developing children matched for age and sex were included in the study. The children were evaluated psychiatrically through a semi-structured interview, DSM-5 criteria, the Childhood Autism Rating Scale (CARS), and the Social Communication Questionnaire (SCQ). IL-6, IL-8, NLGN-1, and NLGN-3 levels were analyzed in peripheral serum samples using human ELISA kits. IL-8 and NLGN-3 levels were higher in the autism group (p < 0.001, p < 0.001). IL-6 was positively related to CARS and SCQ total scores (p = 0.021, p = 0.040, respectively). IL-8, and NLGN-3 were positively associated with the all subtests of the SCQ and the SCQ total score (all p values <0.001). NLGN-1, NLGN-3, and inflammatory cytokine (IL-6, IL-8) levels were positively correlated (all p values <0.001). Neuroligins play a central role in the brain's ability to process information and maybe a key target in the pathogenesis of ASD. Further research is needed to determine whether, to what extent and how neuronal CAMs and immunity modulate each other and whether this contributes to ASD pathogenesis. Future studies should also be expanded to investigate the influence of variables such as oxidative stress, metalloproteases responsible for ectodomain shedding, or epigenetic regulation.
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Affiliation(s)
- Kübra Kılınç
- Department of Child and Adolescent Psychiatry, Konya City Hospital, 42020 Konya, Turkey.
| | - Serhat Türkoğlu
- Department of Child and Adolescent Psychiatry, Selcuk University Faculty of Medicine Hospital, 42130 Konya, Turkey
| | - Ramazan Kocabaş
- Department of Biochemistry, Selcuk University Faculty of Medicine Hospital, 42130 Konya, Turkey
| | - Hasan Ali Güler
- Department of Child and Adolescent Psychiatry, Selcuk University Faculty of Medicine Hospital, 42130 Konya, Turkey
| | - Çiğdem Yılmaz
- Department of Child and Adolescent Psychiatry, Selcuk University Faculty of Medicine Hospital, 42130 Konya, Turkey
| | - Ayşe Büyükateş
- Department of Child and Adolescent Psychiatry, Selcuk University Faculty of Medicine Hospital, 42130 Konya, Turkey
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24
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Zhang W, Cai K, Xiong X, Zhu L, Sun Z, Yang S, Cheng W, Mao H, Chen A. Alterations of triple network dynamic connectivity and repetitive behaviors after mini-basketball training program in children with autism spectrum disorder. Sci Rep 2025; 15:2629. [PMID: 39838077 PMCID: PMC11751186 DOI: 10.1038/s41598-025-87248-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2024] [Accepted: 01/17/2025] [Indexed: 01/23/2025] Open
Abstract
Physical exercise has been demonstrated to effectively mitigate repetitive behaviors in children with autism spectrum disorder (ASD), but the underlying dynamic brain network mechanisms are poorly understood. The triple network model consists of three brain networks that jointly regulate cognitive and emotional processes and is considered to be the core network underlying the aberrant manifestations of ASD. This study investigated whether a mini-basketball training program (MBTP) could alter repetitive behaviors and the dynamic connectivity of the triple network. 28 male children with ASD were scanned twice with resting-state functional MRI and assessed for repetitive behaviors using the repetitive behavior scale (RBS-R). 15 children in the exercise group participated in a 12-week MBTP, while 13 in the control group maintained their regular routines. The feature of Dynamic independent component analysis (dyn-ICA) is its ability to capture the rate of change in connectivity between brain regions. In this study, it was specifically employed to examine the triple network dynamic connectivity in both groups. Compared to the control group, the exercise group exhibited distinct dynamic connectivity patterns in two networks: Network 1 involved cross-network dynamic connectivity changes within the triple network, and Network 2 pertained to dynamic connectivity alterations within the default mode network. Furthermore, a reduction in the RBS-R Total score was observed in the exercise group, reflecting improvements in self-injurious behavior and restricted behavior. Correlation analysis revealed that the amelioration of repetitive behaviors was associated with enhanced dynamic connectivity in parts of the triple network. These findings suggest that MBTP can improve repetitive behaviors in ASD children and is linked to changes in triple network dynamic connectivity.
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Affiliation(s)
- Weike Zhang
- Nanjing Sport Institute, Nanjing, 210014, China
- Nantong Qixiu Middle School, Nantong, 226006, China
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Kelong Cai
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Xuan Xiong
- Department of Physical Education, Nanjing University, Nanjing, 210093, China
| | - Lina Zhu
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Zhiyuan Sun
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Sixin Yang
- Nantong Middle School, Nantong, 226001, China
| | - Wei Cheng
- Jiangsu Shipping College, Nantong, 226010, China
| | - Haiyong Mao
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Aiguo Chen
- Nanjing Sport Institute, Nanjing, 210014, China.
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25
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Ganai UJ, Ratne A, Bhushan B, Venkatesh KS. Early detection of autism spectrum disorder: gait deviations and machine learning. Sci Rep 2025; 15:873. [PMID: 39757284 PMCID: PMC11701103 DOI: 10.1038/s41598-025-85348-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2024] [Accepted: 01/02/2025] [Indexed: 01/07/2025] Open
Abstract
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder diagnosed by clinicians and experts through questionnaires, observations, and interviews. Current diagnostic practices focus on social and communication impairments, which often emerge later in life. This delay in detection results in missed opportunities for early intervention. Gait, a motor behavior, has been previously shown to be aberrant in children with ASD and may be a biomarker for early detection and diagnosis of ASD. The current study assessed gait in children with ASD using a single RGB camera-based pose estimation method by MediaPipe (MP). Data from 32 children with ASD and 29 typically developing (TD) children were collected. The ASD group exhibited significantly reduced step length and right elbow° and increased right shoulder° relative to TD children. Four machine learning (ML) algorithms were employed to classify the ASD and TD children based on the statistically significant gait parameters. The binomial logistic regression (Logit) performed the best, with an accuracy of 0.82, in classifying the ASD and TD children. The present study demonstrates the use of gait analysis and ML techniques for the early detection of ASD.
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Affiliation(s)
- Umer Jon Ganai
- School of Liberal Studies and Media, UPES, Kandoli, Uttarakhand, India.
| | - Aditya Ratne
- Department of Electrical Engineering, Indian Institute of Technology Kanpur, Kalyanpur, India
| | - Braj Bhushan
- Department of Humanities and Social Sciences, Indian Institute of Technology Kanpur, Kalyanpur, India
| | - K S Venkatesh
- Department of Electrical Engineering, Indian Institute of Technology Kanpur, Kalyanpur, India
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26
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Wang T, Xia L, Cheng L. Is simpler better? Semantic content modulates the emotional prosody perception in Mandarin-speaking children with autism spectrum disorder. JOURNAL OF COMMUNICATION DISORDERS 2025; 113:106495. [PMID: 39827584 DOI: 10.1016/j.jcomdis.2025.106495] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/18/2023] [Revised: 01/06/2025] [Accepted: 01/11/2025] [Indexed: 01/22/2025]
Abstract
INTRODUCTION It is still under debate whether and how semantic content will modulate the emotional prosody perception in children with autism spectrum disorder (ASD). The current study aimed to investigate the issue using two experiments by systematically manipulating semantic information in Chinese disyllabic words. METHOD The present study explored the potential modulation of semantic content complexity on emotional prosody perception in Mandarin-speaking children with ASD. Two emotional prosody identification tasks were designed, in which different levels of prosodic and lexical complexity were incrementally included in four stimulus types: pseudo-words, semantically-neutral words, semantics-prosody congruent, and incongruent emotion words. Twenty-four children with ASD and twenty-two typically developing (TD) children were required to focus on the prosodic channel to label emotions while ignoring the semantic information. RESULTS Emotionally neutral semantic content exerted little negative influence on the ASD group's accuracy, while semantic-prosodic incongruence in emotion-label words had dramatic adverse impacts. Although distinct emotional prosody identification patterns were observed across the two groups, the confusion matrices suggested that the participants with ASD had developed similar patterns in identifying the five prosodies. CONCLUSIONS Children with ASD demonstrated a stronger adverse impact from the incremental complexity in the overlap between prosody and lexical cues. However, notably, they have tended to develop a typical emotional prosody recognition pattern. Thus, the poorer performance in the ASD group might originate from the possible developmental delay in suppressing semantic interference rather than from inherent emotion-specific impairments.
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Affiliation(s)
- Ting Wang
- School of Foreign Studies, Tongji University, Shanghai, China; Center for Speech and Language Processing, Tongji University, Shanghai, China
| | - Li Xia
- School of Foreign Studies, Tongji University, Shanghai, China; Center for Speech and Language Processing, Tongji University, Shanghai, China
| | - Lulu Cheng
- School of Foreign Studies, China University of Petroleum (East China), Qingdao, China.
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27
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Sevin IB, Dogan N, Ozbaran NB. Characteristics of Individuals Losing Autism Diagnosis: A Comparative Study With Typically Developing and Autism Spectrum Disorder Individuals. Early Interv Psychiatry 2025; 19:e13617. [PMID: 39435879 DOI: 10.1111/eip.13617] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/22/2024] [Revised: 09/17/2024] [Accepted: 09/23/2024] [Indexed: 10/23/2024]
Abstract
AIM This study aims to reveal the characteristics of individuals who have lost an autism spectrum disorder (ASD) diagnosis and to evaluate their current psychiatric diagnoses. Additionally, the study aims to compare individuals who have lost ASD with typically developing (TD) individuals and those with ASD in terms of current psychopathology, functionality and sociodemographic and clinical variables. METHODS The study included a total of 85 participants aged between 5 and 18, comprising 30 individuals who no longer meet the criteria for ASD (loss of autism diagnosis or LAD), 32 individuals with ASD and 23 TD individuals. While the sociodemographic data form and Childhood Autism Rating Scale (CARS) were completed by the clinician, the Autism Behavior Checklist (ABC) and Social Responsiveness Scale (SRS) were completed by the parents. RESULTS It was found that the LAD group acquired speaking skills earlier, started special education sooner, received preschool education and physical exercise support for a longer duration and exhibited higher mental capacity and lower symptom severity compared to the ASD group. Moreover, 80% of the LAD group had at least one DSM-5 diagnosis. Scores on the ABC and SRS indicated a significant difference, with ASD > LAD > TD. CONCLUSIONS Even if ASD regresses, individuals may still experience residual difficulties and remain at risk for other psychopathologies. Therefore, it is crucial to maintain monitoring and support processes.
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Affiliation(s)
- Ilayda Barankoglu Sevin
- Department of Child and Adolescent Psychiatry, Trabzon Kanuni Education and Research Hospital, Trabzon, Turkey
| | - Nurhak Dogan
- Department of Child and Adolescent Psychiatry, Yalova State Hospital, Yalova, Turkey
| | - Nazli Burcu Ozbaran
- Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey
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28
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Lan K, Wang XX, Lu Y, Zhang A, Jia M, Lu L, Wei YB, Liu JJ. Comparison of the Clancy Autism Behavior Scale and Autism Behavior Checklist for Screening Autism Spectrum Disorder. J Autism Dev Disord 2025; 55:158-165. [PMID: 38064007 DOI: 10.1007/s10803-023-06180-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/31/2023] [Indexed: 02/07/2025]
Abstract
PURPOSE To make early detection of individuals with autism spectrum disorder (ASD), caregiver-report instruments remain an efficient and adaptable option for the preliminary assessment. This study aimed to compare the psychometric properties of the Clancy Autism Behavior Scale (CABS) and Autism Behavior Checklist (ABC) as screening tools for ASD by caregivers. METHODS The data were collected from 154 pairs of children and their parents, who sought medical attention for suspected autism at Peking University Sixth Hospital. The sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio, Youden index, and area under the receiver operating characteristics curves (AUC) of the CABS and ABC were calculated and compared using recommended cut-off values from initial papers. The optimal cut-off values for CABS and ABC were determined according to the maximum Youden index. RESULTS The ABC performed better than the CABS in screening autistic persons. Specifically, the ABC demonstrated higher sensitivity than the CABS in identifying children with ASD, while the CABS exhibited superior specificity compared to the ABC. According to the maximum Youden index, the optimal cut-off value was determined to be 13 for CABS and 62 for ABC. CONCLUSION The ABC exhibits higher sensitivity and overall performance in screening individuals with ASD compared to the CABS. The ABC is more suitable as a screening tool for caregivers in both domestic and clinical settings, while the CABS may be utilized when evaluation time or medical resources are limited due to its shorter completion time and fewer items.
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Affiliation(s)
- Kunyi Lan
- School of Nursing, Peking University, 38 Xueyuan Road, Haidian District, Beijing, 100191, China
| | - X X Wang
- School of Nursing, Peking University, 38 Xueyuan Road, Haidian District, Beijing, 100191, China
| | - Yan'e Lu
- School of Nursing, Peking University, 38 Xueyuan Road, Haidian District, Beijing, 100191, China
| | - Anyi Zhang
- Department of Psychiatry, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, 100045, China
| | - Meixiang Jia
- Peking University Sixth Hospital, Peking University Institute of Mental Health, NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, 100191, China
| | - Lin Lu
- Peking University Sixth Hospital, Peking University Institute of Mental Health, NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, 100191, China
- Peking-Tsinghua Center for Life Sciences and International Data Group, McGovern Institute for Brain Research, Peking University, Beijing, 100191, China
| | - Y B Wei
- Beijing Key Laboratory of Drug Dependence Research, National Institute on Drug Dependence, Peking University, 38 Xueyuan Road, Haidian District, Beijing, 100191, China.
| | - J J Liu
- School of Nursing, Peking University, 38 Xueyuan Road, Haidian District, Beijing, 100191, China.
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29
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Black MH, Remnélius KL, Alehagen L, Bourgeron T, Bölte S. From Symptomatology to Functioning - Applying the ICF to Autism Measures to Facilitate Neurodiversity-Affirmative Data Harmonization. J Autism Dev Disord 2025; 55:114-129. [PMID: 38079032 PMCID: PMC11802640 DOI: 10.1007/s10803-023-06204-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 11/22/2023] [Indexed: 02/07/2025]
Abstract
PURPOSE A considerable number of screening and diagnostic tools for autism exist, but variability in these measures presents challenges to data harmonization and the comparability and generalizability of findings. At the same time, there is a movement away from autism symptomatology to stances that capture heterogeneity and appreciate diversity. The International Classification of Functioning, Disability and Health (ICF) provides a classification system that can support content harmonization of different screening and diagnostic tools for autism while enabling the translation of diagnostic information into functioning. METHOD Here we linked commonly used screening and diagnostic measures within the field of autism to the ICF to facilitate the unification of data obtained from these measures. RESULTS As expected, screening and diagnostic measures primarily focus on body functions and activities and participation domains of the ICF, and much less on environmental factors, reflecting biomedical and adaptive behavior operationalizations of autism derived from diagnostic manuals. CONCLUSION By translating symptomology-based information to the continuous and diagnostically neutral view of functioning, the ICF linking presented here may provide a means to harmonize measures of autism characteristics while enabling diagnostic information to be re-examined through a more neurodiversity-affirmative lens.
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Affiliation(s)
- Melissa H Black
- Center of Neurodevelopmental Disorders Disorders at Karolinska Institutet (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Stockholm Health Care Services, Child and Adolescent Psychiatry Stockholm, CAP Research Center, Gävlegatan 22 (Entré B), Floor 8, SE-11330, Stockholm, Sweden.
| | - Karl Lundin Remnélius
- Center of Neurodevelopmental Disorders Disorders at Karolinska Institutet (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Stockholm Health Care Services, Child and Adolescent Psychiatry Stockholm, CAP Research Center, Gävlegatan 22 (Entré B), Floor 8, SE-11330, Stockholm, Sweden
| | - Lovisa Alehagen
- Center of Neurodevelopmental Disorders Disorders at Karolinska Institutet (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Stockholm Health Care Services, Child and Adolescent Psychiatry Stockholm, CAP Research Center, Gävlegatan 22 (Entré B), Floor 8, SE-11330, Stockholm, Sweden
| | - Thomas Bourgeron
- Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, IUF, Université de Paris Cité, Paris, France
| | - Sven Bölte
- Center of Neurodevelopmental Disorders Disorders at Karolinska Institutet (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Stockholm Health Care Services, Child and Adolescent Psychiatry Stockholm, CAP Research Center, Gävlegatan 22 (Entré B), Floor 8, SE-11330, Stockholm, Sweden
- Child and Adolescent Psychiatry, Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden
- Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Western, Australia
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Salami S, Alhalal E. Quality of life of primary caregivers of autistic children: Structural equation modeling. J Pediatr Nurs 2025; 80:e58-e66. [PMID: 39516058 DOI: 10.1016/j.pedn.2024.10.042] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/02/2024] [Revised: 10/27/2024] [Accepted: 10/31/2024] [Indexed: 11/16/2024]
Abstract
PURPOSE Because autistic children may face difficulties living independently, considering their caregivers' quality of life (QoL) is crucial. However, few studies have examined the pathways through which the severity of autism spectrum disorder (ASD) affects caregivers. Based on the stress process model, this study examined a hypothesized model of how ASD severity affects caregivers' QoL, both directly and indirectly, through coping strategies, family functioning, and perceived social support. DESIGN AND METHODS This cross-sectional study included 392 caregivers of autistic children in Saudi Arabia. Structured interviews were conducted between April and July 2023. The data were collected from caregivers who visited the developmental and behavioral disorders clinic, daycare centers, and schools. Descriptive and correlational analyses were conducted to describe the study variables and their association with caregivers' QoL. Structural equation modeling was used to test the hypothesized model. RESULTS The results showed that the hypothesized model fit the data. Maladaptive coping strategies (β = -0.039, P < 0.05), family functioning (β = -0.110, P < 0.05), and perceived social support (β = -0.182, P < 0.05) partially mediated the association between ASD severity and caregivers' QoL. CONCLUSION AND IMPLICATIONS Our findings underscore the importance of tailoring interventions that focus on QoL for caregivers of autistic children, encouraging adaptive coping strategies, improving family functioning, and enhancing perceptions of social support.
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Affiliation(s)
- Salma Salami
- Nursing College, King Saud University, (Community and Mental Health Nursing), Riyadh, Saudi Arabia.
| | - Eman Alhalal
- Nursing College, King Saud University, (Community and Mental Health Nursing), Riyadh, Saudi Arabia.
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Zhang Y, Xie F, Li S, Li Y, Yang L, Wang Z, Lei J, Guo H. Associations of Serum Manganese, Zinc, Copper, and Selenium Concentrations With Autism Spectrum Disorders in Chinese Children: A Case-Control Study. Autism Res 2024. [PMID: 39731337 DOI: 10.1002/aur.3302] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2024] [Revised: 11/28/2024] [Accepted: 12/22/2024] [Indexed: 12/29/2024]
Abstract
Imbalances in several trace elements related to antioxidant function may lead to autism spectrum disorder (ASD)-related physiological dysfunction. Nonetheless, contradictory results have been found on the connection between these elements and ASD, and studies of their joint effects and interactions have been insufficient. We therefore designed a case-control study of 152 ASD children and 152 age- and sex-matched typically developing (TD) children to explore the individual and combined associations of manganese (Mn), zinc (Zn), copper (Cu), and selenium (Se) with ASD. Compared with TD, ASD has lower Zn and Se levels and higher Cu levels. The restricted cubic spline model showed J-shaped non-linearity, L-shaped non-linearity, and positive linearity correlations between Mn, Zn, Cu, and ASD. Zn and Cu were negatively and positively correlated with ASD symptoms, respectively. The superoxide dismutase (SOD) mediated 50.53% and 39.07% of the association between Zn, Se, and ASD, respectively. Bayesian kernel machine regression (BKMR) confirmed a U-shaped correlation between the element mixtures and ASD. Interactions of Mn with the other three elements and Cu with Zn were also observed. Our results confirm that the independent and combined exposure to the four trace elements was associated with ASD, with oxidative stress being an important mechanism. Due to the potential interactions between the elements, further research is needed to explore their involvement in the pathogenesis and progression of ASD from a combined perspective, as well as the beneficial and harmful concentration ranges.
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Affiliation(s)
- Yong Zhang
- School of Public Health, Hubei University of Medicine, Shiyan, China
- Research Center of Environment and Health of South-to-North Water Diversion Area, Hubei University of Medicine, Shiyan, China
- Department of Rehabilitation Medicine, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
- Huangshi Key Laboratory of Birth Defects Prevention, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
| | - Fang Xie
- Department of Rehabilitation Medicine, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
- Huangshi Key Laboratory of Birth Defects Prevention, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
| | - Sheng Li
- Huangshi Key Laboratory of Birth Defects Prevention, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
- Department of Clinical Laboratory, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
| | - Ying Li
- Department of Rehabilitation Medicine, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
- Huangshi Key Laboratory of Birth Defects Prevention, Huangshi Maternity and Children's Health Hospital, Affiliated Maternity and Children's Health Hospital of Hubei Polytechnic University, Huangshi, China
| | - Liting Yang
- School of Public Health, Hubei University of Medicine, Shiyan, China
| | - Zhen Wang
- School of Public Health, Hubei University of Medicine, Shiyan, China
| | - Jinlin Lei
- School of Public Health, Hubei University of Medicine, Shiyan, China
| | - Huailan Guo
- School of Public Health, Hubei University of Medicine, Shiyan, China
- Research Center of Environment and Health of South-to-North Water Diversion Area, Hubei University of Medicine, Shiyan, China
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Phillips S, Yanchik A, Jung H, Vietze P, Lax LE. Effects of bilingual language exposure on toddlers with autism spectrum disorder. Front Psychol 2024; 15:1412339. [PMID: 39759414 PMCID: PMC11695126 DOI: 10.3389/fpsyg.2024.1412339] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2024] [Accepted: 09/19/2024] [Indexed: 01/07/2025] Open
Abstract
Research analyzing the effects of bilingual language exposure on children with autism spectrum disorder (ASD) has increased in frequency. Utilizing the Bayley Scales of Infant and Toddler Development-Third Edition, the current study analyzed the effects of bilingual language exposure and age on language development, cognitive development, and social emotional development in toddlers with ASD. Older children demonstrated higher language scores than younger children. The interaction between ASD and bilingualism did not yield statistical significance for language, cognitive, or social emotional scores; however, the interaction between age and bilingualism was found to be significant. Age may have more of an influence on language development than ASD. Children with ASD can be raised in bilingual homes without affecting long-term development.
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Affiliation(s)
- Sarah Phillips
- Department of Psychology, Montclair State University, Montclair, NJ, United States
| | - Amelia Yanchik
- Department of Psychology, Montclair State University, Montclair, NJ, United States
| | - Heather Jung
- Department of Psychology, Montclair State University, Montclair, NJ, United States
| | - Peter Vietze
- Department of Psychology, Montclair State University, Montclair, NJ, United States
- CARES Clinical Services, New York, NY, United States
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Lu JH, Wei H, Zhang Y, Fei F, Huang HY, Dong QJ, Chen J, Ao DQ, Chen L, Li TY, Li Y, Dai Y. Effects of remote support courses on parental mental health and child development in autism: A randomized controlled trial. World J Psychiatry 2024; 14:1892-1904. [PMID: 39704371 PMCID: PMC11622010 DOI: 10.5498/wjp.v14.i12.1892] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/28/2024] [Revised: 09/22/2024] [Accepted: 10/11/2024] [Indexed: 11/27/2024] Open
Abstract
BACKGROUND Sustaining the mental health of autistic children's parents can be demanding. AIM To determine the effect of remote support courses on the mental health of parents and the development of autistic children. METHODS Parents of 140 autistic children were randomly assigned to two groups receiving a 2-week intervention: The control group received caregiver-mediated intervention (CMI); the experimental group received CMI with remote family psychological support courses (R-FPSC). The Parenting Stress Index-Short Form, Parenting Sense of Competence Scale, Generalized Anxiety Disorder-7, and Patient Health Questionnaire-9 were used to measure parents' mental health. The Childhood Autism Rating Scale and Gesell Developmental Schedules were used to evaluate children's development. RESULTS Improved parenting stress, sense of competence, depression, and anxiety were found in both groups, but improvements in parenting stress (81.10 ± 19.76 vs 92.10 ± 19.26, P < 0.01) and sense of competence (68.83 ± 11.23 vs 63.91 ± 10.86, P < 0.01) were greater in the experimental group, although the experimental group showed no significant reduction in depression or anxiety. Children's development did not differ significantly between the groups at follow-up; however, experimental group parents exhibited a short-term increase in training enthusiasm (12.78 ± 3.16 vs 11.57 ± 3.15, P < 0.05). CONCLUSION Integrating R-FPSC with CMI may be effective in reducing parenting stress, enhancing parents' sense of competence, and increasing parents' training enthusiasm.
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Affiliation(s)
- Jia-Hui Lu
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Hua Wei
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Yu Zhang
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Fan Fei
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Hai-Yan Huang
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Qiu-Jun Dong
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Jing Chen
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Dong-Qin Ao
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Li Chen
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Ting-Yu Li
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Yan Li
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
| | - Ying Dai
- Growth, Development and Mental Health Center of Children and Adolescents, Children’s Hospital of Chongqing Medical University, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 401146, China
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Zhang L, Ji J, Wang Y, Wang L, Zheng R, Jiang Y. Plasma vitamin levels and pathway analysis in boys with autism spectrum disorders. Sci Rep 2024; 14:30344. [PMID: 39639123 PMCID: PMC11621688 DOI: 10.1038/s41598-024-82260-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/31/2024] [Accepted: 12/03/2024] [Indexed: 12/07/2024] Open
Abstract
Abnormal feeding behaviors and inadequate nutrient intake of children with autism spectrum disorder (ASD) have been reported. This study aimed to examine the plasma vitamin status of boys with autism spectrum disorder (ASD) and to analyze the association between vitamin status and symptoms of ASD. A total of 45 boys with ASD (age = 3.25 ± 0.68 years) and 45 typically developing (TD) boys (age = 3.33 ± 0.66 years) were enrolled. The developmental levels were evaluated using the Gesell Developmental Schedules (GDS), the severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS). The plasma vitamin levels were determined using metabolomics method. The Vitamin B1, nicotinamide, pyridoxamine dihydrochloride and Vitamin E were found to be significantly higher in the boys with ASD compared with those without ASD. In addition, no significant differences in vitamin metabolic pathways were found between the ASD group and the TD group.The nicotinamide and pyridoxamine dihydrochloride concentration were found to be negatively correlated with GDS score. In comparison with TD boys, the plasma vitamin concentration of ASD boys was not insufficient. Further studies are required to investigate whether it is necessary to use vitamin nutritional supplements in children with ASD.
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Affiliation(s)
- Lili Zhang
- Department of Child Healthcare, Affiliated Children's Hospital of Jiangnan University, Wuxi, Jiangsu, China.
| | - Jian Ji
- State Key Laboratory of Food Science and Technology, School of Food Science and Technology, Synergetic Innovation Center of Food Safety and Quality Control, National Engineering Research Center for Functional Food, Jiangnan University, Wuxi, Jiangsu, China
| | - Yue Wang
- Department of Child Healthcare, Affiliated Wuxi People's Hospital, Wuxi Children's Hospital of Nanjing Medical University, Wuxi, Jiangsu, China
| | - Lei Wang
- Department of Child Healthcare, Affiliated Children's Hospital of Jiangnan University, Wuxi, Jiangsu, China
| | - Ruixuan Zheng
- Department of Child Healthcare, Affiliated Children's Hospital of Jiangnan University, Wuxi, Jiangsu, China
| | - Yunshu Jiang
- Department of Child Healthcare, Affiliated Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China
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Park G, Kim J, Lee T, Kim HW. Clinical Significance of the Vineland Adaptive Behavior Scale-II in Children With Developmental Disabilities. Psychiatry Investig 2024; 21:1407-1414. [PMID: 39757819 PMCID: PMC11704807 DOI: 10.30773/pi.2024.0140] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/07/2024] [Revised: 08/27/2024] [Accepted: 09/19/2024] [Indexed: 01/07/2025] Open
Abstract
OBJECTIVE This study compared adaptive functioning measured by the Korean version of Vineland Adaptive Behavior Scales, Second Edition (K-VABS-II), in preschool children with developmental disabilities (DD) and those with typical development (TD). We also examined the correlation of K-VABS-II adaptive profiles with developmental and behavioral assessments. METHODS Two hundred preschool children (73 females and 127 males, mean age 54.7±9.1 months) were recruited from special educational centers, community-based daycare centers, and kindergartens. Eighty-one with DD comprising 61 with autism spectrum disorder, 63 with intellectual disability, 12 with language disorder, and 119 with TD were included. Their developmental profiles were measured by the Psychoeducational Profile-Revised (PEP-R), Preschool Receptive-Expressive Language Scale (PRES), K-VABS-II, Social Responsiveness Scale (SRS), and the Korean version of the Childhood Autism Rating Scale (K-CARS). The parent completed the Child Behavior Checklist (CBCL), and Aberrant Behavior Checklist (ABC). RESULTS The K-VABS-II Adaptive Behavior Composite and all domain scores of K-VABS-II differed significantly between children with DD and TD (all p<0.001). In most domains, K-VABS-II had moderate-to-strong correlations with PEP-R, PRES, K-CARS, and SRS. The Maladaptive Behavior Index domain of K-VABS-II had moderate correlations with behavioral assessments, including CBCL and ABC. CONCLUSION These findings suggest that K-VABS-II is useful in evaluating developmental levels and adaptive and maladaptive behaviors of preschool children with DD. K-VABS-II also had significant correlations with cognitive, language, social, and behavioral assessments.
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Affiliation(s)
- Gyeongwon Park
- Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
| | - Jichul Kim
- Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
| | - Taeyeop Lee
- Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
| | - Hyo-Won Kim
- Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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Oh M, Yoon NH, Kim SA, Yoo HJ. Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels of NR3C1, ASCL1, and FOXO3 in Korean Autism Spectrum Disorder Sibling Pairs. CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE : THE OFFICIAL SCIENTIFIC JOURNAL OF THE KOREAN COLLEGE OF NEUROPSYCHOPHARMACOLOGY 2024; 22:635-645. [PMID: 39420610 PMCID: PMC11494426 DOI: 10.9758/cpn.24.1188] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/22/2024] [Revised: 05/13/2024] [Accepted: 05/14/2024] [Indexed: 10/19/2024]
Abstract
Objective Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives. Methods This study investigated the DNA methylation patterns of the promoter regions of candidate genes such as NR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition. Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires. Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes. Results Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy. Conclusion This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.
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Affiliation(s)
- Miae Oh
- Department of Psychiatry, Kyung Hee University Hospital, Seoul, Korea
| | - Nan-He Yoon
- Division of Social Welfare and Health Administration, Wonkwang University, Iksan, Korea
| | - Soon Ae Kim
- Department of Pharmacology, School of Medicine, Eulji University, Daejon, Korea
| | - Hee Jeong Yoo
- Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Korea
- Department of Psychiatry, Seoul National University College of Medicine, Seoul, Korea
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Sá RODS, Michelassi GDC, Butrico DDS, Franco FDO, Sumiya FM, Portolese J, Brentani H, Nunes FLS, Machado-Lima A. Enhancing ensemble classifiers utilizing gaze tracking data for autism spectrum disorder diagnosis. Comput Biol Med 2024; 182:109184. [PMID: 39353297 DOI: 10.1016/j.compbiomed.2024.109184] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2024] [Revised: 08/28/2024] [Accepted: 09/20/2024] [Indexed: 10/04/2024]
Abstract
PROBLEM Diagnosing Autism Spectrum Disorder (ASD) remains a significant challenge, especially in regions where access to specialists is limited. Computer-based approaches offer a promising solution to make diagnosis more accessible. Eye tracking has emerged as a valuable technique in aiding the diagnosis of ASD. Typically, individuals' gaze patterns are monitored while they view videos designed according to established paradigms. In a previous study, we developed a method to classify individuals as having ASD or Typical Development (TD) by processing eye-tracking data using Random Forest ensembles, with a focus on a paradigm known as joint attention. AIM This article aims to enhance our previous work by evaluating alternative algorithms and ensemble strategies, with a particular emphasis on the role of anticipation features in diagnosis. METHODS Utilizing stimuli based on joint attention and the concept of "floating regions of interest" from our earlier research, we identified features that indicate gaze anticipation or delay. We then tested seven class balancing strategies, applied seven dimensionality reduction algorithms, and combined them with five different classifier induction algorithms. Finally, we employed the stacking technique to construct an ensemble model. RESULTS Our findings showed a significant improvement, achieving an F1-score of 95.5%, compared to the 82% F1-score from our previous work, through the use of a heterogeneous stacking meta-classifier composed of diverse induction algorithms. CONCLUSION While there remains an opportunity to explore new algorithms and features, the approach proposed in this article has the potential to be applied in clinical practice, contributing to increased accessibility to ASD diagnosis.
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Affiliation(s)
- Rafaela Oliveira da Silva Sá
- School of Arts, Sciences and Humanities (EACH) of the University of Sao Paulo (USP), Rua Arlindo Béttio, 1000 - Ermelino Matarazzo, São Paulo, 03828-000, São Paulo, Brazil.
| | - Gabriel de Castro Michelassi
- School of Arts, Sciences and Humanities (EACH) of the University of Sao Paulo (USP), Rua Arlindo Béttio, 1000 - Ermelino Matarazzo, São Paulo, 03828-000, São Paulo, Brazil.
| | - Diego Dos Santos Butrico
- Department of Psychiatry, University of Sao Paulo's School of Medicine (FMUSP), Rua Doutor Ovídio Pires de Campos, 785 - Cerqueira César, São Paulo, 05403-010, São Paulo, Brazil.
| | - Felipe de Oliveira Franco
- Department of Psychiatry, University of Sao Paulo's School of Medicine (FMUSP), Rua Doutor Ovídio Pires de Campos, 785 - Cerqueira César, São Paulo, 05403-010, São Paulo, Brazil.
| | - Fernando Mitsuo Sumiya
- Department of Psychiatry, University of Sao Paulo's School of Medicine (FMUSP), Rua Doutor Ovídio Pires de Campos, 785 - Cerqueira César, São Paulo, 05403-010, São Paulo, Brazil.
| | - Joana Portolese
- Department of Psychiatry, University of Sao Paulo's School of Medicine (FMUSP), Rua Doutor Ovídio Pires de Campos, 785 - Cerqueira César, São Paulo, 05403-010, São Paulo, Brazil.
| | - Helena Brentani
- Department of Psychiatry, University of Sao Paulo's School of Medicine (FMUSP), Rua Doutor Ovídio Pires de Campos, 785 - Cerqueira César, São Paulo, 05403-010, São Paulo, Brazil.
| | - Fátima L S Nunes
- School of Arts, Sciences and Humanities (EACH) of the University of Sao Paulo (USP), Rua Arlindo Béttio, 1000 - Ermelino Matarazzo, São Paulo, 03828-000, São Paulo, Brazil.
| | - Ariane Machado-Lima
- School of Arts, Sciences and Humanities (EACH) of the University of Sao Paulo (USP), Rua Arlindo Béttio, 1000 - Ermelino Matarazzo, São Paulo, 03828-000, São Paulo, Brazil.
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Lee J, Lim J, Kang S, Kim S, Jung SY, Kim S, Hong SB, Park YR. Mobile App-Assisted Parent Training Intervention for Behavioral Problems in Children With Autism Spectrum Disorder: Pilot Randomized Controlled Trial. JMIR Hum Factors 2024; 11:e52295. [PMID: 39466295 PMCID: PMC11555457 DOI: 10.2196/52295] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/29/2023] [Revised: 08/02/2024] [Accepted: 09/13/2024] [Indexed: 10/29/2024] Open
Abstract
BACKGROUND In children with autism spectrum disorder (ASD), problem behaviors play a dysfunctional role, causing as much difficulty with daily living and adjustment as the core symptoms. If such behaviors are not effectively addressed, they can result in physical, economic, and psychological issues not only for the individual but also for family members. OBJECTIVE We aimed to develop and evaluate the feasibility of a mobile app-assisted parent training program for reducing problem behaviors in children with ASD. METHODS This open-label, single-center, randomized controlled trial was conducted among parents of children with ASD aged 36-84 months. Participants were recruited from the Department of Psychiatry at Seoul National University Hospital. Participants were randomly assigned (1:1) by a blinded researcher. Randomization was performed using a stratified block randomization (with a block size of 4). Parents in the intervention group completed the mobile app-assisted parent training program at home over a 12-week period. They continued to receive their usual nondrug treatment in addition to the mobile app-assisted parent training program. The control group continued to receive their usual nonpharmaceutical treatment for 12 weeks without receiving the parent training program intervention. The primary outcome measure was the median change in the Korean Child Behavior Checklist (K-CBCL) scores from before to after the intervention. Lower scores on the K-CBCL indicated a decrease in overall problem behavior. RESULTS Between November 9, 2022, and December 8, 2022, 64 participants were enrolled. Overall, 42 children (intervention group median age: 49, IQR 41-52.5 months; control group median age: 49, IQR 42-58 months) of the participants joined the program. The intervention group included 20 (48%) participants and the control group included 22 (52%) participants. In the intervention group, the K-CBCL total scores showed a decrease after the intervention, with a median difference of -0.5 (95% CI -4.5 to 3). Pervasive developmental disorder scores also showed a decrease, with a median difference of -2.1 (95% CI -8.5 to 2.5). However, there was no significant difference in Clinical Global Impression-Severity of Illness scores after the intervention for both the control and intervention groups. Scores on the Korean version of the Social Communication Questionnaire showed a further decrease after the intervention in the intervention group (median difference -2, 95% CI -4 to 1). Caregivers' stress evaluated using the Korean Parenting Stress Index Fourth Edition-Short Form did not show any significant differences between the control and intervention groups. There were no adverse events related to study participation. CONCLUSIONS The findings demonstrated the feasibility of using mobile devices for evidence-based parent training to reduce problem behaviors in children with ASD. Mobile devices' accessibility and flexibility may provide a viable alternative for offering early intervention for problem behaviors in children with ASD. TRIAL REGISTRATION CRIS KCT0007841; https://cris.nih.go.kr/cris/search/detailSearch.do?&seq=23112.
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Affiliation(s)
- JooHyun Lee
- Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea
| | | | - Soyeon Kang
- Division of Child and Adolescent Psychiatry, Department of Psychiatry, Seoul National University Hospital, Seoul, Republic of Korea
| | - Sujin Kim
- Division of Child and Adolescent Psychiatry, Department of Psychiatry, Seoul National University Hospital, Seoul, Republic of Korea
| | | | - Sujin Kim
- LumanLab Inc, Seoul, Republic of Korea
| | - Soon-Beom Hong
- Division of Child and Adolescent Psychiatry, Department of Psychiatry, Seoul National University Hospital, Seoul, Republic of Korea
- Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea
- Institute of Human Behavioral Medicine, Seoul National University Medical Research Center, Seoul, Republic of Korea
| | - Yu Rang Park
- Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Republic of Korea
- Department of Artificial Intelligence, Yonsei University, Seoul, Republic of Korea
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Suh JH, Han SJ, Choi SA, Yang H, Park S. Tablet computer-based cognitive training for visuomotor integration in children with developmental delay: a pilot study. BMC Pediatr 2024; 24:683. [PMID: 39465386 PMCID: PMC11520080 DOI: 10.1186/s12887-024-05162-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/14/2024] [Accepted: 10/18/2024] [Indexed: 10/29/2024] Open
Abstract
BACKGROUND Impaired visuomotor integration (VMI) is commonly observed in children with developmental delay (DD). This pilot study aimed to evaluate the effects of tablet computer-based cognitive training on the VMI in children with DD. METHODS This study included children aged 4 to under 18 years diagnosed with DD. The children participated in a 12-week tablet computer-based visual-spatial and visuomotor training program. They were administered the Mind Rx Kids Program (Brain Academy, Seoul, South Korea). The participants underwent daily 30-min tablet computer-based training for 12 weeks. The primary visuomotor function was measured using the Beery-Buktenica Developmental Test of Visual-Motor Integration, 6th Edition (VMI-6). For secondary outcomes, measurements were taken before and after 12-week treatment using the Quality of Upper Extremity Skills Test (QUEST), Functional Independence Measure for Children (WeeFIM), Childhood Autism Rating Scale (CARS), Attention deficit hyperactivity disorder Rating Scale (ARS), and Child Smartphone Addiction Observer Scale. The Wilcoxon signed-rank test was used to compare the pre- and post-treatment outcomes. RESULTS Ten children with DD participated in this study. The results of the 12-week tablet computer-based cognitive training showed significant improvements in the raw score, standard score, percentile score, and equivalent age of the Beery VMI-6. Additionally, there were significant improvements in QUEST and WeeFIM scores. Although there were improvements in the CARS, ARS, and smartphone addiction observer scale, these were not statistically significant. CONCLUSION This pilot study confirmed that applying tablet computer-based cognitive training to children with DD not only improves VMI, but also enhances fine motor skills and activities of daily living. Furthermore, the results of this study indicate that tablet computer-based cognitive training does not increase digital media addiction. Therefore, children with DD can engage in tablet computer-based cognitive training at home without concerns about digital media addiction.
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Affiliation(s)
- Jee Hyun Suh
- Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea.
| | - Soo Jeong Han
- Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
| | - Sun Ah Choi
- Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
| | - Hyesung Yang
- Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
| | - Sihyun Park
- Department of Rehabilitation Medicine, College of Medicine, Ewha Womans University, Seoul, Republic of Korea
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Chamtouri M, Merghni A, Miranda-Cadena K, Sakly N, Gaddour N, de Los Reyes-Gavilán CG, Mastouri M, Eraso E, Quindós G. Characterization of Yeast Isolated from the Gut Microbiota of Tunisian Children with Autism Spectrum Disorder. J Fungi (Basel) 2024; 10:730. [PMID: 39590651 PMCID: PMC11595294 DOI: 10.3390/jof10110730] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2024] [Revised: 10/09/2024] [Accepted: 10/15/2024] [Indexed: 11/28/2024] Open
Abstract
Research on the microbiota-gut-brain axis in autism has primarily focused on bacteria, with limited attention to fungi. There is a growing interest in understanding the involvement of fungi, particularly Candida, in patients with autism spectrum disorder. The aim of this study was to assess the prevalence, antifungal susceptibility profiles and virulence factors of Candida isolates from the guts of Tunisian children with autism. Twenty-eight children with autism and forty-six controls were enrolled. Candida isolates from the faecal samples were identified using biochemical and molecular methods; antifungal susceptibility testing was determined by the EUCAST broth microdilution method and virulence factors, including biofilm formation, cell surface hydrophobicity and phospholipase and proteinase activities, were assessed in vitro. As a result, Candida was detected in 13 children with autism (46.4%) and 14 control children (30.4%). Candida albicans was found to be the most common species isolate in the faeces of both groups of children. Antifungal susceptibility profiles showed that one Candida isolate was resistant to amphotericin B and anidulafungin (3.7%), six were resistant to micafungin (22.2%) and five were resistant to fluconazole (18.5%). All Candida isolates were biofilm producers. Of the twenty-seven isolates, only four showed phospholipase activity (14.8%), eight showed aspartyl-proteinase activity (29.6%) and nine were hydrophobic (33.3%). These results highlight the presence of Candida in the guts of children with autism, as well as the ability to express multiple virulence factors and the antifungal resistance, and they emphasize the need for further studies to confirm intestinal Candida colonization and its potential role in autism.
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Affiliation(s)
- Mariem Chamtouri
- Department of Microbiology and Biochemistry of Dairy Products, Instituto de Productos Lácteos de Asturias (IPLA-CSIC), 33300 Villaviciosa, Spain; (M.C.); (C.G.d.L.R.-G.)
- Laboratory of Transmissible Diseases and Biologically Active Substances LR99ES27, Faculty of Pharmacy, University of Monastir, Monastir 5000, Tunisia;
| | - Abderrahmen Merghni
- Laboratory of Antimicrobial Resistance LR99ES09, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis 1068, Tunisia;
| | - Katherine Miranda-Cadena
- Department of Immunology, Microbiology and Parasitology, Faculty of Medicine and Nursing, University of the Basque Country, UPV/EHU, 48080 Bilbao, Spain; (K.M.-C.); (G.Q.)
| | - Nabil Sakly
- Laboratory of Medical and Molecular Parasitology-Mycology (code LR12ES08), Department of Clinical Biology B, Faculty of Pharmacy, University of Monastir, Monastir 5000, Tunisia;
| | - Naoufel Gaddour
- Unit of Child Psychiatry, Monastir University Hospital, Monastir 5000, Tunisia;
| | - Clara G. de Los Reyes-Gavilán
- Department of Microbiology and Biochemistry of Dairy Products, Instituto de Productos Lácteos de Asturias (IPLA-CSIC), 33300 Villaviciosa, Spain; (M.C.); (C.G.d.L.R.-G.)
- Diet, Microbiota and Health Group, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain
| | - Maha Mastouri
- Laboratory of Transmissible Diseases and Biologically Active Substances LR99ES27, Faculty of Pharmacy, University of Monastir, Monastir 5000, Tunisia;
| | - Elena Eraso
- Department of Immunology, Microbiology and Parasitology, Faculty of Medicine and Nursing, University of the Basque Country, UPV/EHU, 48080 Bilbao, Spain; (K.M.-C.); (G.Q.)
| | - Guillermo Quindós
- Department of Immunology, Microbiology and Parasitology, Faculty of Medicine and Nursing, University of the Basque Country, UPV/EHU, 48080 Bilbao, Spain; (K.M.-C.); (G.Q.)
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Iniutina O. Key principles of the KiDD (kids' development diagnosis and determining the risk of autism for children from 1.5 to 6 years) methodology development and comparison of results with other methods. Glob Ment Health (Camb) 2024; 11:e88. [PMID: 39464562 PMCID: PMC11504923 DOI: 10.1017/gmh.2024.85] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/31/2023] [Revised: 05/26/2024] [Accepted: 06/03/2024] [Indexed: 10/29/2024] Open
Abstract
The author outlines the basic principles of creating the KiDD methodology (Kids' Development Diagnosis and Determining the Risk of Autism) for children aged 1.5 to 6 years old in the form of a mobile application. Users of the KiDD (parents or specialists) instantly receive information about the general development of the child in comparison with the age at which certain skills emerge. This includes information about the developmental age in months for each developmental area (speech and communication, socialization and behavior, cognitive skills, physical development and self-care), the developmental age for each specific skill of the child (up to 100 skills in each age category from 1.5 to 6 years) and the likelihood of autism. Additionally, users receive an automatically generated Individual Development Plan, consisting of skills that follow those that the child already has. The author provides statistical data comparing the results obtained through the KiDD with the results of widely accepted tests for assessing a child's developmental level and the likelihood of autism. The article presents comparative data of the results of 199 participants using the KiDD along with their respective diagnoses and results obtained through testing provided by psychologists and remote assessment provided by parents.
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Affiliation(s)
- Olena Iniutina
- PhD in Psychology, Taras Shevchenko National University of Kyiv, Kyiv, Ukraine
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Huang H, Liu L, You C, Chen K, Xing Y, Li Y, Deng H. Screening and Prediction of Autism in Toddlers Using SORF in Videos of Brief Family Interactions. J Autism Dev Disord 2024:10.1007/s10803-024-06575-0. [PMID: 39373881 DOI: 10.1007/s10803-024-06575-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/19/2024] [Indexed: 10/08/2024]
Abstract
The purpose of this study was to validate the utility of the Systematic Observation of Red Flags (SORF) for autism screening during 10-minute parent-child interactions at ages 15-24 months. A total of 54 children participated in this study, including 19 with autism spectrum disorder (ASD), 23 with developmental delay, and 12 typically developing children. Coders coded 10-minute videos of parent-child interactions based on the defined scoring criteria. The discriminative ability for outcome diagnosis was evaluated for total score, social communication score, restricted repetitive behavior score, number of red flags, and composite score. SORF scores demonstrated good discriminative ability between ASD and non-ASD children, with the composite score (AUC = 0.884) showing the best discriminative ability for outcome diagnosis and predicting likelihood of ASD in young children. The composite score represented a simplified measurement, with the cutoff score of 7 and sensitivity and specificity of 0.789 and 0.800, respectively.
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Affiliation(s)
- Huishi Huang
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Linru Liu
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Cong You
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Kaiyun Chen
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Yu Xing
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Yijie Li
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China
| | - Hongzhu Deng
- Child Development and Behavior Center, Third Affiliated Hospital of Sun Yat-sen University, No.600, Tianhe Road, Tianhe District, Guangzhou, Guangdong Province, China.
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Feng YR, Zhang Q, Miao JK, Yang T, Chen J, Chen HY, Mou QH, Xiang XL, Long D, Wei QH, Wu Y, Li TY. Association of the retinol to all-trans retinoic acid pathway with autism spectrum disorder. World J Pediatr 2024; 20:1043-1058. [PMID: 38789720 DOI: 10.1007/s12519-024-00815-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/29/2023] [Accepted: 04/22/2024] [Indexed: 05/26/2024]
Abstract
BACKGROUND Autism spectrum disorder (ASD) is a complex group of neurodevelopmental disorders. Research has highlighted a close association between the retinoic acid (RA) signaling pathway and ASD. This study investigates alterations in the vitamin A (VA, retinol) to RA metabolic pathway in children with ASD and speculates on the underlying reasons for these changes. We propose a subtype characterized by downregulated RA signaling in ASD, laying the groundwork for precise diagnosis and treatment research. METHODS We included 489 children with ASD and 280 typically developing (TD) children. Those with ASD underwent evaluations of core symptoms and neuro-developmental levels, which were conducted by professional developmental behavior physicians using assessment scales. Serum VA and all-trans RA (atRA) levels were determined by high-performance liquid chromatography and ultra-high-performance liquid chromatography-tandem mass spectrometry. The expression levels and concentrations of enzyme molecules such as retinol dehydrogenase 10 were assessed using quantitative polymerase chain reaction and enzyme-linked immunosorbent assay. RESULTS Children with ASD exhibited reduced serum atRA, accompanied by a downregulation of atRA synthesis enzymes. The reduction in serum atRA levels was linked not only to VA levels but also to the aberrant expression of metabolic enzymes responsible for atRA. Furthermore, the serum atRA levels in children with ASD were more strongly correlated with core symptoms and neurodevelopmental levels than VA levels. CONCLUSION Children with ASD exhibited a dual regulation of reduced serum atRA levels, influenced by both VA levels and abnormal expression of atRA metabolic enzymes.
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Affiliation(s)
- Yu-Ru Feng
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Qian Zhang
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Jing-Kun Miao
- Department of Pediatrics, Women and Children' Hospital of Chongqing Medical University, Chongqing Health Center for Women and Children, Chongqing, China
| | - Ting Yang
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Jie Chen
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Hong-Yu Chen
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Qiu-Hong Mou
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Xue-Li Xiang
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Dan Long
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Qiu-Hong Wei
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Yuan Wu
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China
| | - Ting-Yu Li
- Children Nutrition Research Center, Chongqing Key Laboratory of Child Neurodevelopmental and Cognitive Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, Children's Hospital of Chongqing Medical University, No 136, 2nd Zhongshan Rd, Yuzhong District, Chongqing, China.
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Guldiken G, Karayagmurlu A, Kucukgergin C, Coskun M. VEGF, IGF-1 and FGF-2 Serum Levels in Children and Adolescents with Autism Spectrum Disorder with and without Bipolar Disorder. J Autism Dev Disord 2024; 54:3854-3862. [PMID: 37668852 DOI: 10.1007/s10803-023-06089-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/30/2023] [Indexed: 09/06/2023]
Abstract
PURPOSE To investigate serum levels of VEGF, IGF-1 and FGF-2, and relationships with several clinical characteristics in children and adolescents with autism spectrum disorder (ASD) with and without bipolar disorder (BD). METHOD 40 subjects with ASD + BD as study group, and 40 subjects with ASD as control group were included. Serum levels of VEGF, IGF-1, and FGF-2 were measured using commercial enzyme-linked immunosorbent assay kits. RESULTS The study group was significantly higher than the control group in terms of ASD severity, self-harming behavior and sleep disturbance. Serum VEGF and FGF-2 levels were significantly higher in the ASD + BD group than in the control group. There was no significant difference in serum IGF-1 levels between the two groups. There was no correlation between VEGF, IGF-1 and FGF-2 serum levels and ASD severity in the study group. However there was a negative correlation between VEGF levels and age at first diagnosis of BD, and a positive correlation between IGF-1 levels and the number of bipolar episodes in the study group. CONCLUSION Growth factors like VEGF and FGF-2 may be potential biomarkers of bipolar disorder in young subjects with ASD. Given the difficulty of clinical management of BD in young subjects with ASD, potential biomarkers would help clinicians in the diagnosis and follow up of BD in this special population. Further research is needed whether VEGF and FGF-2 can be potential biomarkers in the clinical management of young subjects with ASD and BD.
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Affiliation(s)
- Gokce Guldiken
- Health Ministry of Turkish Republic Reyhanlı State Hospital, Hatay, Turkey.
| | - Ali Karayagmurlu
- Department of Child and Adolescent Psychiatry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
| | - Canan Kucukgergin
- Department of Medical Biochemistry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
| | - Murat Coskun
- Department of Child and Adolescent Psychiatry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
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Lemay KR, Kogan CS, Rebello T, Keeley JW, Bhargava R, Buono S, Cooray S, Ginige P, Kishore MT, Kommu JVS, Recupero M, Roy A, Sharan P, Reed GM. Implementation of the International Classification of Diseases 11th revision behavioural indicators for disorders of intellectual development with co-occurring autism spectrum disorder. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 2024; 68:1114-1128. [PMID: 38733333 DOI: 10.1111/jir.13146] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/03/2023] [Revised: 04/20/2024] [Accepted: 04/24/2024] [Indexed: 05/13/2024]
Abstract
BACKGROUND The classification of mental, behavioural and neurodevelopmental disorders in the World Health Organization's International Classification of Diseases 11th revision (ICD-11) includes a comprehensive set of behavioural indicators (BIs) within the neurodevelopmental disorders grouping. BIs can be used to assess the severity of disorders of intellectual development in situations in which standardised measures of intellectual functioning and adaptive behaviours are not available or feasible. This international study examines the implementation characteristics of the BIs and compares them to standardised measures for assessing the severity of intellectual impairment and adaptive behaviours in disorders of intellectual development and autism spectrum disorder (ASD). The clinical utility of the ICD-11 and the fidelity of its application in international clinical settings were also assessed. METHODS A total of 116 children and adolescents (5-18 years old) with a suspected or established diagnosis of disorders of intellectual development were included across four sites [Italy (n = 18), Sri Lanka (n = 19) and two sites in India (n = 79)]. A principal component analysis was conducted to evaluate the application of the ICD-11 guidance for combining severity levels. RESULTS Assessment using the BIs showed a higher proportion of individuals classified with mild severity, whereas the standardised measures indicated a higher proportion of severe ratings. Additionally, individuals with co-occurring ASD tended to have more severe impairments compared with those without ASD, as indicated by both BIs and standardised measures. Overall, the BIs were considered clinically useful, although more time and consideration were required when applying the guidelines for individuals with a co-occurring disorder of intellectual development and ASD. The principal component analysis revealed one principal component representing overall disorders of intellectual development severity levels. CONCLUSIONS The ICD-11 BIs can be implemented as intended in international clinical settings for a broad range of presentations of individuals with neurodevelopmental disorders. Use of the BIs results in similar severity diagnoses to those made using standardised measures. The BIs are expected to improve the reliability of severity assessments in settings where appropriate standardised measures for intellectual and adaptive behaviours are not available or feasible.
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Affiliation(s)
- K R Lemay
- School of Psychology, University of Ottawa, Ottawa, Canada
| | - C S Kogan
- School of Psychology, University of Ottawa, Ottawa, Canada
| | - T Rebello
- Department of Psychiatry, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA
- Department of Psychiatry, Research Foundation for Mental Hygiene, New York, NY, USA
| | - J W Keeley
- Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA
| | - R Bhargava
- Department of Psychiatry and National Drug Dependence Treatment Centre, All India Institute of Medical Sciences, New Delhi, India
| | - S Buono
- Department of Psychology, Oasi Research Institute-IRCCS, Troina, Italy
| | - S Cooray
- Faculty of Psychiatry of Learning Disability, Royal College of Psychiatrists, London, UK
| | - P Ginige
- Faculty of Medicine, University of Peradeniya, Peradeniya, Sri Lanka
| | - M T Kishore
- Department of Clinical Psychology, National Institute of Mental Health and Neuro Sciences, Bengaluru, India
| | - J V S Kommu
- Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, India
| | - M Recupero
- Department of Psychology, Oasi Research Institute-IRCCS, Troina, Italy
| | - A Roy
- Coventry and Warwickshire Partnership NHS Trust, Birmingham, UK
- Centre for Educational Development, Appraisal and Research, University of Warwick, Coventry, UK
| | - P Sharan
- Department of Psychiatry, All India Institute of Medical Sciences, New Delhi, India
| | - G M Reed
- Department of Psychiatry, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA
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Li H, Zhang Q, Duan T, Li J, Shi L, Hua Q, Li D, Ji GJ, Wang K, Zhu C. Sex differences in brain functional specialization and interhemispheric cooperation among children with autism spectrum disorders. Sci Rep 2024; 14:22096. [PMID: 39333138 PMCID: PMC11437118 DOI: 10.1038/s41598-024-72339-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2024] [Accepted: 09/05/2024] [Indexed: 09/29/2024] Open
Abstract
The prevalence of autism spectrum disorders (ASDs) differs substantially between males and females, suggesting that sex-related neurodevelopmental factors are central to ASD pathogenesis. Numerous studies have suggested that abnormal brain specialization patterns and poor regional cooperation contribute to ASD pathogenesis, but relatively little is known about the related sex differences. Therefore, this study examined sex differences in brain functional specialization and cooperation among children with ASD. The autonomy index (AI) and connectivity between functionally homotopic voxels (CFH) derived from resting-state functional magnetic resonance imaging (rs-fMRI) were compared between 58 male and 13 female children with ASD. In addition, correlations were examined between regional CFH values showing significant sex differences and symptom scores on the autism behavior checklist (ABC) and childhood autism rating scale (CARS). Male children with ASD demonstrated significantly greater CFH in the left fusiform gyrus (FG) and right opercular part of the inferior frontal gyrus (IFGoperc) than female children with ASD. In addition, the CFH value of the left FG in male children with ASD was negatively correlated with total ABC score and subscale scores for sensory and social abilities. In contrast, no sex differences were detected in brain specialization. These regional abnormalities in interhemispheric cooperation among male children with ASD may provide clues to the neural mechanisms underlying sex differences in ASD symptomatology and prevalence. Autism spectrum disorders, sex, resting-state functional magnetic resonance imaging, cerebral specialization, interhemispheric cooperation.
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Affiliation(s)
- Hong Li
- School of Mental Health and Psychological Sciences, Anhui Hospital Affiliated to the Pediatric Hospital of Fudan University, Hefei, 230002, China
| | - Qingqing Zhang
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China
- Institute of Artificial Intelligence, Hefei Comprehensive National Science Center, Hefei, 230000, China
| | - Tao Duan
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China
| | - Jing Li
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China
| | - Lei Shi
- School of Mental Health and Psychological Sciences, Anhui Hospital Affiliated to the Pediatric Hospital of Fudan University, Hefei, 230002, China
| | - Qiang Hua
- Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, 230032, China
- Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, 230032, China
- Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China
| | - Dandan Li
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China
- Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, 230032, China
- Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, 230032, China
| | - Gong-Jun Ji
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China
- Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, 230032, China
- Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, 230032, China
- Department of Psychology, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, China
| | - Kai Wang
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China.
- Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, 230032, China.
- Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, 230032, China.
- Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.
- Institute of Artificial Intelligence, Hefei Comprehensive National Science Center, Hefei, 230000, China.
| | - Chunyan Zhu
- School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, 230032, China.
- Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, 230032, China.
- Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, 230032, China.
- Department of Psychology, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, China.
- Institute of Artificial Intelligence, Hefei Comprehensive National Science Center, Hefei, 230000, China.
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Ferreira JP, Campos MJ, Ataíde S. Effects of a Physical Exercise Program on Young People and Adults with Autism Spectrum Disorder-A Study Protocol. J Clin Med 2024; 13:5740. [PMID: 39407800 PMCID: PMC11477064 DOI: 10.3390/jcm13195740] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/24/2024] [Revised: 09/14/2024] [Accepted: 09/21/2024] [Indexed: 10/20/2024] Open
Abstract
Background/Objectives: Physical exercise (PE) has been shown to have positive effects on the symptoms associated with autism spectrum disorder (ASD). However, there is still no consensus on the most appropriate PE intervention model. With this in mind, we developed a program with the aim of determining the effects of PE on physical fitness, with a view to applying it as a potential treatment. Methods: Using an experimental methodology, this research work will recruit 18 institutionalized young people and adults who will be allocated to one of two groups, namely (i) the youth training group and (ii) the adult training group, using low-cost materials. Both intervention groups will perform 90 min of training per session, twice a week, for 12 weeks. Evaluations will be carried out at baseline and month 3. The impact of the exercise program will be assessed based on the variables of anthropometry, body composition, cardiovascular response, and cardiorespiratory fitness. Results: The results of this study will contribute to the development of more effective strategies, prescription recommendations, and interventions as a guarantee in future programs of better and greater adherence to PE by institutionalized individuals with ASD. Conclusions: In addition, we intend to make the PE program available if it promotes positive effects in the target population.
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Affiliation(s)
- José Pedro Ferreira
- Faculty of Sport Sciences and Physical Education (FCDEF), University of Coimbra, 3040-248 Coimbra, Portugal; (J.P.F.); (M.J.C.)
- Sport and Physical Activity Research Unit (CIDAF, uid/dtp/04213/2020), Faculty of Sport Sciences and Physical Education, University of Coimbra, 3040-248 Coimbra, Portugal
| | - Maria João Campos
- Faculty of Sport Sciences and Physical Education (FCDEF), University of Coimbra, 3040-248 Coimbra, Portugal; (J.P.F.); (M.J.C.)
- Sport and Physical Activity Research Unit (CIDAF, uid/dtp/04213/2020), Faculty of Sport Sciences and Physical Education, University of Coimbra, 3040-248 Coimbra, Portugal
| | - Sofia Ataíde
- Faculty of Sport Sciences and Physical Education (FCDEF), University of Coimbra, 3040-248 Coimbra, Portugal; (J.P.F.); (M.J.C.)
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Xu D, Sun Z, Yang Y, Cai K, Zhu L, Qi K, Liu Z, Shi Y, Liu Y, Qiao Z, Jiang L, Chen A. Effects of Ball Combination Exercise Combined with cTBS Intervention on Sleep Problems in Children with Autism. J Autism Dev Disord 2024:10.1007/s10803-024-06555-4. [PMID: 39292346 DOI: 10.1007/s10803-024-06555-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/03/2024] [Indexed: 09/19/2024]
Abstract
Sleep problems significantly affect the quality of life of autism spectrum disorder (ASD) children. This study aimed to evaluate the effects of a 12-week ball combination exercise, continuous theta burst stimulation (cTBS) stimulation, and combined intervention on sleep problems in children with ASD. Forty-five ASD children were divided into three intervention groups (ball combination exercise(n = 12), cTBS stimulation(n = 10), combined (n = 12) and a control group (n = 11). The intervention groups underwent intervention, while the control group maintained daily activities. The effects were assessed using the Children's Sleep Habits Questionnaire (CSHQ) scale. The results revealed that after 12 weeks of intervention, three programs reduced sleep problems in children with ASD. The post-test scores of the cTBS group (p = 0.002) and the combined group (p < 0.001) were significantly lower than the baseline scores on the CSHQ scale. The exercise group (p = 0.002) and the combined group (p < 0.001) showed significant improvement in sleep anxiety, while there was no statistically significant difference in the effectiveness of the three interventions for sleep-onset delay. The combined group outperformed the single intervention groups in the CSHQ score and sleep anxiety sub-dimensions. The combined intervention group showed slightly superior performance in sleep onset latency, however, there was no significant difference. Three interventions alleviated sleep issues in ASD children, with the combined method proving more effective. This study validates non-pharmacologic and combined approaches for ASD sleep problems. Future research should delve deeper into the mechanisms of these interventions in ASD children's sleep improvement.
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Affiliation(s)
- Decheng Xu
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Zhiyuan Sun
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Yahui Yang
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Kelong Cai
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Lina Zhu
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Kai Qi
- Gdansk University of Physical Education and Sport, Gdansk, 80-336, Poland
| | - Zhimei Liu
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Yifan Shi
- Gdansk University of Physical Education and Sport, Gdansk, 80-336, Poland
| | - Yufei Liu
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Zhiyuan Qiao
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Luanyue Jiang
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China
| | - Aiguo Chen
- College of Physical Education, Yangzhou University, Yangzhou, 225127, China.
- Nanjing Sport Institute, Nanjing, 210014, China.
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49
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Dale N, Sakkalou E, Eriksson MH, Salt A. Modification and Validation of an Autism Observational Assessment Including ADOS-2 ® for Use with Children with Visual Impairment. J Autism Dev Disord 2024:10.1007/s10803-024-06514-z. [PMID: 39249577 DOI: 10.1007/s10803-024-06514-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/03/2024] [Indexed: 09/10/2024]
Abstract
Children with visual impairment (VI) are at risk of autism spectrum disorder (ASD); however standard observational diagnostic assessments are not validated for this population. The primary objective of the study is to validate a modified version of the Autism Diagnostic Observation Schedule (ADOS-2®, Module 3), for children with VI. A cross-sectional observational study was undertaken with 100 (mean 5½ years, SD 10.44 months, range 4-7 years; 59 (59%) males) children with congenital disorders of the peripheral visual system with moderate/severe-profound VI. As the primary objective, 83 (83%) who were 'verbally fluent' were assessed with the modified ADOS-2® (Module 3). Their scores were investigated for reliability, construct and criterion validity against expert clinician formulation and parent-rated social and communication questionnaires (Social Responsiveness Scale-2, SRS-2; Children's Communication Checklist-2). The secondary objective with the total sample was to report on frequency and distribution of ASD ratings in this VI population. The modified ADOS-2® (Module 3) was found to have strong internal coherence and construct validity (two factor model) and inter-rater reliability. A new VI diagnostic algorithm was established which showed high sensitivity and specificity against clinician formulation. Using the best cut-off threshold for 'High Risk for ASD', strong concurrent criterion validity was found according to parent-rated scores on the SRS-2. The modified ADOS-2® (Module 3) was shown to have promising reliability and validity in establishing children at 'High Risk of ASD' in this vulnerable population. Elevated rates of ASD were found across the sample, in line with previous estimates.
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Affiliation(s)
- Naomi Dale
- Great Ormond Street Hospital NHS Trust, Great Ormond Street, London, WC1 3JH, UK.
- UCL Great Ormond Street Institute of Child Health, London, UK.
| | - Elena Sakkalou
- UCL Great Ormond Street Institute of Child Health, London, UK
- Anglia Ruskin University Cambridge, Cambridge, UK
| | | | - Alison Salt
- Great Ormond Street Hospital NHS Trust, Great Ormond Street, London, WC1 3JH, UK
- UCL Great Ormond Street Institute of Child Health, London, UK
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50
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Ge LK, Man X, Cai K, Liu Z, Tsang WW, Chen A, Wei GX. Sharing Our World: Impact of Group Motor Skill Learning on Joint Attention in Children with Autism Spectrum Disorder. J Autism Dev Disord 2024:10.1007/s10803-024-06528-7. [PMID: 39230782 DOI: 10.1007/s10803-024-06528-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/16/2024] [Indexed: 09/05/2024]
Abstract
Impaired joint attention is a common feature of autism spectrum disorder (ASD), affecting social interaction and communication. We explored if group basketball learning could enhance joint attention in autistic children, and how this relates to brain changes, particularly white matter development integrity. Forty-nine autistic children, aged 4-12 years, were recruited from special education centers. The experimental group underwent a 12-week basketball motor skill learning, while the control group received standard care. Eye-tracking and brain scans were conducted. The 12-week basketball motor skill learning improved joint attention in the experimental group, evidenced by better eye tracking metrics and enhanced white matter integrity. Moreover, reduced time to first fixation correlated positively with decreased mean diffusivity of the left superior corona radiata and left superior fronto-occipital fasciculus in the experimental group. Basketball-based motor skill intervention effectively improved joint attention in autistic children. Improved white matter fiber integrity related to sensory perception, spatial and early attention function may underlie this effect. These findings highlight the potential of group motor skill learning within clinical rehabilitation for treating ASD.
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Affiliation(s)
- Li-Kun Ge
- CAS Key Laboratory of Behavioral Science, Institute of Psychology, Beijing, 100101, China
- Department of Psychology, University of Chinese Academy of Sciences, Beijing, 100049, China
| | - Xiaoxia Man
- Collaborative Innovation Center of Assessment for Basic Education Quality, Beijing Normal University, Beijing, 100875, China
- Shandong Sports Science Research Center, Jinan, 250100, China
| | - Kelong Cai
- College of Physical Education, Yangzhou University, Yangzhou, 225009, China
| | - Zhimei Liu
- College of Physical Education, Yangzhou University, Yangzhou, 225009, China
| | - William Wainam Tsang
- Department of Physiotherapy, School of Nursing and Health Studies, Hong Kong Metropolitan University, Kowloon, China
| | - Aiguo Chen
- Nanjing Institute of Physical Education, Nanjing, 210014, China
- Institute of Sports, Exercise and Brain, Yangzhou University, Yangzhou, 225127, China
| | - Gao-Xia Wei
- CAS Key Laboratory of Behavioral Science, Institute of Psychology, Beijing, 100101, China.
- Department of Psychology, University of Chinese Academy of Sciences, Beijing, 100049, China.
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