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Stein Duker LI, Giffin W, Taylor EE, Shkhyan L, Pomponio Davidson A, Mosqueda L. Barriers and facilitators to primary healthcare encounters as reported by autistic adults: a qualitative study. Front Med (Lausanne) 2025; 12:1481953. [PMID: 40144868 PMCID: PMC11937071 DOI: 10.3389/fmed.2025.1481953] [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: 08/16/2024] [Accepted: 02/03/2025] [Indexed: 03/28/2025] Open
Abstract
Background Primary care is designed to co-manage health concerns, contribute to preventive care, and provide medical care coordination. Receiving primary care may be especially vital for autistic people, many of whom disproportionately experience psychiatric and physical health conditions. However, autistic adults often face barriers to receiving primary care, and first-hand accounts of these challenges are limited. Therefore, the purpose of this study was to describe barriers and facilitators to primary care encounters as reported by autistic adults. Methods Interviews were conducted with 34 autistic adults in Los Angeles and Philadelphia, lasted an average of 26 min, were transcribed verbatim, and analyzed using thematic analysis. This dataset is part of a larger study that interviewed autistic adults, caregivers, and primary care providers (PCPs). Results Participants were primarily White, non-Hispanic, and had a mean age of 32 years. Five overarching themes describing challenges and potential strategies to improve care emerged from the interviews: (1) finding a primary care provider, (2) the physical environment, (3) communication, (4) autism-specific knowledge, and (5) support for primary care encounters, while simultaneously highlighting the importance of tailoring care for autistic adults to improve primary care experiences. Results, specifically in the communication and autism-specific knowledge themes, were consistent with the neurodiversity model of autism, as participants highlighted stigma and mutual communication as key healthcare barriers. Conclusion Findings provide a nuanced understanding of autistic adult participants' primary care experiences, highlighting their perception of barriers and facilitators to these healthcare encounters. These results offer valuable insights for improving the accessibility and quality of care for autistic people, many of which are practical, low/no cost, and easy to implement. Strategies also emphasized the diversity of experiences and preferences for autistic patients, highlighting the importance of tailoring accommodations in the primary care setting.
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Affiliation(s)
- Leah I. Stein Duker
- Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, United States
| | - Willa Giffin
- Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, United States
| | - Elinor E. Taylor
- Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, United States
| | - Lily Shkhyan
- Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, United States
| | - Amber Pomponio Davidson
- Department of Health and Rehabilitation Sciences, College of Public Health, Temple University, Philadelphia, PA, United States
| | - Laura Mosqueda
- Department of Family Medicine, Keck School of Medicine of University of Southern California, Los Angeles, CA, United States
- Leonard Davis School of Gerontology, University of Southern California, Los Angeles, CA, United States
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Adebisi YA, Bafail DA. Comparing self-rated health among exclusive e-cigarette users and traditional cigarette smokers: an analysis of the Health Survey for England 2019. Intern Emerg Med 2025; 20:441-452. [PMID: 39546077 PMCID: PMC11950125 DOI: 10.1007/s11739-024-03817-y] [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: 10/02/2024] [Accepted: 11/02/2024] [Indexed: 11/17/2024]
Abstract
The health implications of e-cigarette use compared to traditional cigarette smoking continue to attract significant public health interest. This study examines self-rated health (SRH) outcomes among exclusive e-cigarette users versus exclusive traditional cigarette smokers, using data from the Health Survey for England 2019. From an initial sample of 10,299 participants, the study focused on 8204 adults, excluding those aged 0-15. Further refinement to exclusive nicotine product users led to 274 e-cigarette users and 1017 cigarette smokers, after excluding dual users, never users, ex-users, non-responders, and users of other tobacco products such as pipes and cigars. SRH was derived from participants' responses to a question asking how they rated their general health, with five possible options: "very good", "good", "fair", "bad", and "very bad". For the purposes of this study, these responses were collapsed into two categories: "Good Health" (combining "very good" and "good") and "Poor Health" (combining "fair", "bad", and "very bad"). Consequently, 834 participants were classified as reporting good health, while 457 reported poor health. Binary logistic regression, adjusted for factors such as age, sex, ethnicity, residence, education, body mass index, alcohol use, age started smoking, physical or mental health conditions, and frequency of GP visits, revealed that exclusive e-cigarette users were significantly more likely to report good health compared to exclusive cigarette smokers, with an odds ratio (OR) of 1.59 (95% CI: 1.10 - 2.32, p = 0.014). As a sensitivity analysis, a generalized ordered logistic regression model was performed using the original five SRH categories. The adjusted model confirmed consistent results, with exclusive e-cigarette users showing higher odds of reporting better health across the full range of SRH outcomes (OR = 1.40, 95% CI: 1.08-1.82, p = 0.011). These findings suggest that exclusive e-cigarette users perceive their health more positively than traditional cigarette smokers, contributing useful insights to the discussions around harm reduction strategies.
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Affiliation(s)
| | - Duaa Abdullah Bafail
- Department of Clinical Pharmacology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Jonsdottir SL, Saemundsen E, Thorarinsdottir EA, Rafnsson V. Evaluating screening for autism spectrum disorder using cluster randomization. Sci Rep 2024; 14:6855. [PMID: 38514752 PMCID: PMC10957883 DOI: 10.1038/s41598-024-57656-0] [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: 06/28/2023] [Accepted: 03/20/2024] [Indexed: 03/23/2024] Open
Abstract
We evaluated the rate of autism spectrum disorder (ASD) in a group invited to a screening program compared to the rates in two groups who received usual care. The population eligible for screening was all children in Iceland registered for their 30-month well-child visits at primary healthcare centers (PHCs) from March 1, 2016, to October 31, 2017 (N = 7173). The PHCs in the capital area of Reykjavik were the units of cluster randomization. Nine PHCs were selected for intervention (invited group), while eight PHCs received usual care (control group 1). PHCs outside the capital area were without randomization (control group 2). An interdisciplinary team, including a pediatrician contributing with physical and neurological examination, a psychologist evaluating autism symptoms using a diagnostic instrument, and a social worker interviewing the parents, reached a consensus on the clinical diagnosis of ASD according to the ICD-10 diagnostic system. Children in the population were followed up for at least two years and 119 cases were identified. The overall cumulative incidence of ASD was 1.66 (95% confidence interval (CI): 1.37, 1.99). In the invited group the incidence rate was 2.13 (95% CI: 1.60, 2.78); in control group 1, the rate was 1.83 (95% CI: 1.31, 2.50); and in control group 2, the rate was 1.02 (95% CI: 0.66, 1.50). Although the rate of ASD was higher in the invited group than in the control groups, the wide confidence intervals prevented us from concluding definitively that the screening detected ASD more readily than usual care.
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Affiliation(s)
- Sigridur Loa Jonsdottir
- State Diagnostic and Counseling Center, Dalshraun 1B, 220, Hafnarfjordur, Iceland.
- Center of Public Health Sciences, Faculty of Medicine, University of Iceland, Reykjavík, Iceland.
| | - Evald Saemundsen
- State Diagnostic and Counseling Center, Dalshraun 1B, 220, Hafnarfjordur, Iceland
- Faculty of Medicine, University of Iceland, Reykjavík, Iceland
| | - Elin Astros Thorarinsdottir
- Department of Psychology, University of Iceland, Reykjavík, Iceland
- Center of Children's Mental Health, Reykjavík, Iceland
| | - Vilhjalmur Rafnsson
- Department of Preventive Medicine, Faculty of Medicine, University of Iceland, Reykjavík, Iceland
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Man MQ, Yang S, Mauro TM, Zhang G, Zhu T. Link between the skin and autism spectrum disorder. Front Psychiatry 2023; 14:1265472. [PMID: 37920540 PMCID: PMC10619695 DOI: 10.3389/fpsyt.2023.1265472] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/30/2023] [Accepted: 09/28/2023] [Indexed: 11/04/2023] Open
Abstract
Autism spectrum disorder (ASD) is a common neurological disorder. Although the etiologies of ASD have been widely speculated, evidence also supports the pathogenic role of cutaneous inflammation in autism. The prevalence of ASD is higher in individuals with inflammatory dermatoses than in those without inflammatory diseases. Anti-inflammation therapy alleviates symptoms of ASD. Recent studies suggest a link between epidermal dysfunction and ASD. In the murine model, mice with ASD display epidermal dysfunction, accompanied by increased expression levels of proinflammatory cytokines in both the skin and the brain. Children with ASD, which develops in their early lifetime, also exhibit altered epidermal function. Interestingly, improvement in epidermal function alleviates some symptoms of ASD. This line of evidence suggests a pathogenic role of cutaneous dysfunction in ASD. Either an improvement in epidermal function or effective treatment of inflammatory dermatoses can be an alternative approach to the management of ASD. We summarize here the current evidence of the association between the skin and ASD.
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Affiliation(s)
- Mao-Qiang Man
- Dermatology Hospital, Southern Medical University, Guangzhou, China
- Department of Dermatology, University of California, San Francisco, CA, United States
- Dermatology Service, San Francisco VA Medical Center,San Francisco, CA, United States
| | - Shuyun Yang
- Department of Dermatology, The People’s Hospital of Baoshan, Baoshan, China
| | - Theodora M. Mauro
- Department of Dermatology, University of California, San Francisco, CA, United States
- Dermatology Service, San Francisco VA Medical Center,San Francisco, CA, United States
| | - Guoqiang Zhang
- Department of Dermatology, The First Hospital of Hebei Medical University, Shijiazhuang, China
| | - Tingting Zhu
- Department of Dermatology, The First Affiliated Hospital of Soochow University, Suzhou, China
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Curnow E, Utley I, Rutherford M, Johnston L, Maciver D. Diagnostic assessment of autism in adults - current considerations in neurodevelopmentally informed professional learning with reference to ADOS-2. Front Psychiatry 2023; 14:1258204. [PMID: 37867776 PMCID: PMC10585137 DOI: 10.3389/fpsyt.2023.1258204] [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: 07/14/2023] [Accepted: 09/18/2023] [Indexed: 10/24/2023] Open
Abstract
Services for the assessment and diagnosis of autism in adults have been widely criticized and there is an identified need for further research in this field. There is a call for diagnostic services to become more accessible, person-centered, neurodiversity affirming, and respectful. There is a need for workforce development which will increase capacity for diagnostic assessment and support for adults. ADOS-2 is a gold-standard diagnostic assessment tool for autism recommended in clinical guidelines. However, diagnostic procedures such as the ADOS-2 are rooted in the medical model and do not always sit comfortably alongside the neurodiversity paradigm or preferences of the autistic community. Training and educational materials need to account for the differences between these approaches and support clinicians to provide services which meet the needs of the adults they serve. The National Autism Implementation Team worked alongside ADOS-2 training providers to support clinicians in Scotland, to provide effective and respectful diagnostic assessment. The team engaged with clinicians who had attended ADOS training to identify areas of uncertainty or concern. Training materials were developed to support ADOS assessors to incorporate key principles including "nothing about us without us"; "difference not deficit"; "environment first"; "diagnosis matters," "language and mindsets matter"; and "a neurodevelopmental lens," to support the provision of neurodiversity affirming assessment practice. The National Autism Implementation Team also provided examples of actions which can be undertaken by clinicians to improve the assessment experience for those seeking a diagnosis. Training materials are based on research evidence, clinical experience, and the needs and wishes of autistic people.
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Affiliation(s)
- Eleanor Curnow
- School of Health Sciences, Queen Margaret University, Musselburgh, United Kingdom
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Khasakhala E, Bota K, Ayaga G, Sichari M, Wesonga B, Kokonya D. Comorbidity of mental health and autism spectrum disorder: perception of practitioners in management of their challenging behaviour. INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES 2023; 69:386-397. [PMID: 37213594 PMCID: PMC10197977 DOI: 10.1080/20473869.2023.2203531] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/28/2022] [Revised: 04/12/2023] [Accepted: 04/12/2023] [Indexed: 05/23/2023]
Abstract
The relationship between mental health problems, Autism Spectrum Disorder (ASD) and challenging behaviour among children and adolescents is complex and multifaceted. The study investigated practitioners' perception of comorbidity of mental health and ASD in the management of challenging behaviours among children and adolescents in Kenya. Target population was 3490 practitioners. Sample size was 1047, comprising of 38 assessment staff, 27 mental health workers 548 regular teachers, 294 teachers from special schools, and 140 teachers from special units for children with ASD. Stratified and purposive sampling techniques were used. Interviews and structured questionnaires were used. Test-retest yielded a coefficient of 0.78 while Cronbachs' reliability coefficient was 0.830. There was a positive significant correlation between perception of challenging behaviours and mental health problems (r = .415, p = .000). Challenging behaviour perceptions have a negative significant effect on behaviour management strategies, (β = -0.163, p = .000) implying that the choice of management strategies is dependent on the perceptions. Challenging behaviours accounts for 2.7% variance in the choice of the management strategies, R2 = .027, F(1,1045) = 28.471, p = .000.The practitioners' perception of mental health and comorbid ASD, showed that children with ASD, when enduring life stressors, can be at a higher risk of mental health difficulties than their peers There is need for multidisciplinary synergy in developing effective challenging behaviour programmes for children and adolescents with ASD.
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Affiliation(s)
- Edward Khasakhala
- Department of Educational Psychology, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
| | - Kennedy Bota
- Department of Educational Psychology, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
| | - Godfrey Ayaga
- Department of Educational Psychology, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
| | - Manson Sichari
- Department of Educational Psychology, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
| | - Benard Wesonga
- Department of Community Health and Behavioural Sciences, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
| | - Donald Kokonya
- Department of Psychiatry, Masinde Muliro University of Science and Technology (MMUST), Kakamega, Kenya
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Sun F, Chen Y, Huang Y, Yan J, Chen Y. Relationship between gray matter structure and age in children and adolescents with high-functioning autism spectrum disorder. Front Hum Neurosci 2023; 16:1039590. [PMID: 36684838 PMCID: PMC9853167 DOI: 10.3389/fnhum.2022.1039590] [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: 09/08/2022] [Accepted: 12/15/2022] [Indexed: 01/08/2023] Open
Abstract
Objective The present study used magnetic resonance imaging to investigate the difference in the relationship between gray matter structure and age in children and adolescents with autism spectrum disorder (ASD) and typically developing (TD) subjects. Methods After screening T1 structural images from the Autism Brain Imaging Data Exchange (ABIDE) database, 111 children and adolescents (7-18 years old) with high-functioning ASD and 151 TD subjects matched for age, sex and full IQ were included in the current study. By using the voxel-based morphological analysis method, gray matter volume/density (GMV/GMD) maps were obtained for each participant. Then, a multiple regression analysis was performed for ASD and TD groups, respectively to estimate the relationship between GMV/GMD and age with gender, education, site, and IQ scores as covariates. Furthermore, a z-test was used to compare such relationship difference between the groups. Results Results showed that compared with TD, the GMD of ASD showed stronger positive correlations with age in the prefrontal cortex, and a stronger negative correlation in the left inferior parietal lobule, and a weaker positive correlation in the right inferior parietal lobule. The GMV of ASD displayed stronger positive correlations with age in the prefrontal cortex and cerebellum. Conclusion These findings may provide evidence to support that the brain structure abnormalities underlying ASD during childhood and adolescence may differ from each other.
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Affiliation(s)
- Fenfen Sun
- Center for Brain, Mind, and Education, Shaoxing University, Shaoxing, China
- Department of Psychology, Shaoxing University, Shaoxing, China
| | - Yue Chen
- Center for Brain, Mind, and Education, Shaoxing University, Shaoxing, China
- Department of Psychology, Shaoxing University, Shaoxing, China
| | - Yingwen Huang
- Center for Brain, Mind, and Education, Shaoxing University, Shaoxing, China
- Department of Psychology, Shaoxing University, Shaoxing, China
| | - Jing Yan
- Center for Brain, Mind, and Education, Shaoxing University, Shaoxing, China
- Department of Psychology, Shaoxing University, Shaoxing, China
| | - Yihong Chen
- Department of Otorhinolaryngology, The First People’s Hospital of Xiaoshan, Hangzhou, China
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Holzinger D, Weber C, Bölte S, Fellinger J, Hofer J. Assessment of Autism Spectrum Disorder in Deaf Adults with Intellectual Disability: Feasibility and Psychometric Properties of an Adapted Version of the Autism Diagnostic Observation Schedule (ADOS-2). J Autism Dev Disord 2022; 52:3214-3227. [PMID: 34322824 PMCID: PMC9213306 DOI: 10.1007/s10803-021-05203-5] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/15/2021] [Indexed: 01/13/2023]
Abstract
This study describes the adaptation of the autism diagnostic observation schedule (ADOS-2) to assess autism spectrum disorder (ASD) in adults with intellectual disability (ID) and hearing loss who communicate primarily visually. This adapted ADOS-2 was applied to residents of specialized therapeutic living communities (n = 56). The internal consistency of the adapted ADOS-2 was excellent for the Social Affect of modules 2 and 3 and acceptable for Restricted and Repetitive Behaviors subscale of module 2, but poor for module 3. Interrater reliability was comparable to standard ADOS-2 modules 1-3. Results suggest that autism symptoms of deaf adults with ID can be reliably identified by an adapted ADOS-2, provided adequate expertise in deafness, ID, ASD and proficiency in signed language by the administrator.
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Affiliation(s)
- D Holzinger
- Forschungsinstitut für Entwicklungsmedizin, Johannes Kepler Universität Linz, Linz, Austria
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, Seilerstätte 2, 4021, Linz, Austria
- Institut für Sprachwissenschaft, Karl-Franzens-Universität Graz, Graz, Austria
| | - C Weber
- Forschungsinstitut für Entwicklungsmedizin, Johannes Kepler Universität Linz, Linz, Austria
- Institut für Inklusive Pädagogik, Pädagogische Hochschule OÖ, Linz, Austria
| | - S Bölte
- Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Karolinska Institutet & Stockholm Health Care Services, Region Stockholm, 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, WA, Australia
| | - J Fellinger
- Forschungsinstitut für Entwicklungsmedizin, Johannes Kepler Universität Linz, Linz, Austria
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, Seilerstätte 2, 4021, Linz, Austria
- Abteilung für Sozialpsychiatrie der Universitätsklinik für Psychiatrie und Psychotherapie, Medizinische Universität Wien, Vienna, Austria
| | - J Hofer
- Forschungsinstitut für Entwicklungsmedizin, Johannes Kepler Universität Linz, Linz, Austria.
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, Seilerstätte 2, 4021, Linz, Austria.
- Abteilung für Pädiatrie I, Medizinische Universität Innsbruck, Innsbruck, Austria.
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Parmar KR, Porter CS, Dickinson CM, Baimbridge P, Pelham J, Gowen E. Autism-friendly eyecare: Developing recommendations for service providers based on the experiences of autistic adults. Ophthalmic Physiol Opt 2022; 42:675-693. [PMID: 35315935 PMCID: PMC9313607 DOI: 10.1111/opo.12975] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/20/2021] [Revised: 02/15/2022] [Accepted: 02/15/2022] [Indexed: 12/27/2022]
Abstract
PURPOSE People with autism face significant barriers when accessing healthcare services. Eye examinations present unique challenges. Accessibility of this healthcare sector for people with autism has not been investigated previously. The aim of this research was to investigate eye examination accessibility for autistic adults and produce recommendations for autism-friendly eyecare. METHODS Two qualitative studies were conducted. In Study 1, 18 autistic adults took part in focus groups to elicit their eye examination experiences. Transcripts of the recorded discussions were thematically analysed. Study 1 findings were used to design autism-friendly eye examinations for autistic adults. These were conducted in Study 2. Twenty-four autistic adults participated in these examinations, during which they were interviewed about their experience and how it might be improved by reasonable modifications. Audio recordings of the interviews were content analysed. RESULTS Knowledge of what to expect, in advance of the eye examination, could greatly reduce anxiety. Participants liked the logical structure of the examination, and the interesting instrumentation used. However, the examination and practice environment did include sensory challenges, due to lights, sound and touch. Changes in practice layout, and interacting with multiple staff members, was anxiety provoking. Participants expressed a need for thorough explanations from the optometrist that outlined the significance of each test, and what the patient was expected to do. CONCLUSION A number of accessiblity barriers were identified. These suggested that UK eye examinations are not very accessible for autistic adults. Barriers began at the point of booking the appointment and continued through to the dispensing of spectacles. These caused anxiety and stress for this population, but could be reduced with easy-to-implement adaptations. Based on the findings, recommendations are presented here for the whole eyecare team which suggest how more autism-friendly eye examinations can be provided.
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Affiliation(s)
- Ketan R. Parmar
- Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science CentreThe University of ManchesterManchesterUK
| | - Catherine S. Porter
- Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science CentreThe University of ManchesterManchesterUK
| | - Christine M. Dickinson
- Division of Pharmacy and Optometry, School of Health Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science CentreThe University of ManchesterManchesterUK
| | - Peter Baimbridge
- Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science CentreThe University of ManchesterManchesterUK
| | | | - Emma Gowen
- Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science CentreThe University of ManchesterManchesterUK
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Jackson EE, McGlone FP, Haggarty CJ. The social brain has a nerve: insights from attachment and autistic phenotypes. Curr Opin Behav Sci 2022. [DOI: 10.1016/j.cobeha.2022.101114] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Cooper SA, Henderson A, Kinnear D, Mackay D, Fleming M, Smith GS, Hughes-McCormack LA, Rydzewska E, Dunn K, Pell JP, Melville C. Cohort profile: Scotland's record-linkage e-cohorts of people with intellectual disabilities, and autistic people (SCIDA). BMJ Open 2022; 12:e057230. [PMID: 35568493 PMCID: PMC9109103 DOI: 10.1136/bmjopen-2021-057230] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/03/2022] Open
Abstract
PURPOSE To investigate health, mortality and healthcare inequalities experienced by people with intellectual disabilities, and autistic people, and their determinants; an important step towards identifying and implementing solutions to reduce inequalities. This paper describes the cohorts, record-linkages and variables that will be used. PARTICIPANTS Scotland's Census, 2011 was used to identify Scotland's citizens with intellectual disabilities, and autistic citizens, and representative general population samples with neither. Using Scotland's community health index, the Census data (demography, household, employment, long-term conditions) were linked with routinely collected health, death and healthcare data: Scotland's register of deaths, Scottish morbidity data 06 (SMR06: cancer incidence, mortality, treatments), Prescribing Information System (identifying asthma/chronic obstructive pulmonary disease; angina/congestive heart failure/hypertension; peptic ulcer/reflux; constipation; diabetes; thyroid disorder; depression; bipolar disorders; anxiety/sleep; psychosis; attention deficit hyperactivity disorder; epilepsy; glaucoma), SMR01 (general/acute hospital admissions and causes, ambulatory care sensitive admissions), SMR04 (mental health admissions and causes), Scottish Care Information-Diabetes Collaboration (diabetic care quality, diabetic outcomes), national bowel screening programme and cervical screening. FINDINGS TO DATE Of the whole population, 0.5% had intellectual disabilities, and 0.6% were autistic. Linkage was successful for >92%. The resultant e-cohorts include: (1) 22 538 people with intellectual disabilities (12 837 men and 9701 women), 4509 of whom are children <16 years, (2) 27 741 autistic people (21 390 men and 6351 women), 15 387 of whom are children <16 years and (3) representative general population samples with neither condition. Very good general health was reported for only 3389 (15.0%) people with intellectual disabilities, 10 510 (38.0%) autistic people, compared with 52.4% general population. Mental health conditions were reported for 4755 (21.1%) people with intellectual disabilities, 3998 (14.4%) autistic people, compared with 4.2% general population. FUTURE PLANS Analyses will determine the extent of premature mortality, causes of death, and avoidable deaths, profile of health conditions and cancers, healthcare quality and screening and determinants of mortality and healthcare.
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Affiliation(s)
- Sally-Ann Cooper
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Angela Henderson
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Deborah Kinnear
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Daniel Mackay
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Michael Fleming
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Gillian S Smith
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | | | - Ewelina Rydzewska
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Kirsty Dunn
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - J P Pell
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Craig Melville
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
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Ogundele MO, Morton M. Classification, prevalence and integrated care for neurodevelopmental and child mental health disorders: A brief overview for paediatricians. World J Clin Pediatr 2022; 11:120-135. [PMID: 35433298 PMCID: PMC8985496 DOI: 10.5409/wjcp.v11.i2.120] [Citation(s) in RCA: 10] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2021] [Revised: 10/29/2021] [Accepted: 01/13/2022] [Indexed: 02/06/2023] Open
Abstract
'Neurodevelopmental disorders' comprise a group of congenital or acquired long-term conditions that are attributed to disturbance of the brain and or neuromuscular system and create functional limitations, including autism spectrum disorder, attention deficit/ hyperactivity disorder, tic disorder/ Tourette's syndrome, developmental language disorders and intellectual disability. Cerebral palsy and epilepsy are often associated with these conditions within the broader framework of paediatric neurodisability. Co-occurrence with each other and with other mental health disorders including anxiety and mood disorders and behavioural disturbance is often the norm. Together these are referred to as neurodevelopmental, emotional, behavioural, and intellectual disorders (NDEBIDs) in this paper. Varying prevalence rates for NDEBID have been reported in developed countries, up to 15%, based on varying methodologies and definitions. NDEBIDs are commonly managed by either child health paediatricians or child/ adolescent mental health (CAMH) professionals, working within multidisciplinary teams alongside social care, education, allied healthcare practitioners and voluntary sector. Fragmented services are common problems for children and young people with multi-morbidity, and often complicated by sub-threshold diagnoses. Despite repeated reviews, limited consensus among clinicians about classification of the various NDEBIDs may hamper service improvement based upon research. The recently developed "Mental, Behavioural and Neurodevelopmental disorder" chapter of the International Classification of Diseases-11 offers a way forward. In this narrative review we search the extant literature and discussed a brief overview of the aetiology and prevalence of NDEBID, enumerate common problems associated with current classification systems and provide recommendations for a more integrated approach to the nosology and clinical care of these related conditions.
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Affiliation(s)
- Michael O Ogundele
- Department of Community Paediatrics, Bridgewater Community Healthcare NHS Foundation Trust, Runcorn WA7 1TW, Halton, United Kingdom
| | - Michael Morton
- Institute of Health & Wellbeing, University of Glasgow, Child and Adolescent Psychiatry, Yorkhill Hospital, Glasgow G3 8SJ, United Kingdom
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Bowden N, Milne B, Audas R, Clasby B, Dacombe J, Forster W, Kokaua J, Gibb S, Hughes N, MacCormick C, Smiler K, Taylor B, Mirfin-Veitch B. Criminal justice system interactions among young adults with and without autism: A national birth cohort study in New Zealand. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2021; 26:1783-1794. [PMID: 34961358 PMCID: PMC9483704 DOI: 10.1177/13623613211065541] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
While sensationalist headlines and highly publicised criminal cases have led many
to believe there is a link between autism and criminal behaviour, extant
literature presents an unresolved debate. We sought to address this issue by
examining the prevalence of criminal justice system interactions among young
adults with and without autism, and by assessing whether offence types differ
between these groups. This was a national birth cohort study using linked health
and criminal justice system data. Cox proportional hazard models were employed
to compare criminal justice system interactions between young adults with and
without autism, controlling for important socio-demographic characteristics.
Data were acquired for 1197 people with autism and 147,879 without autism. Young
adults with autism had significantly lower rates of being proceeded against by
police, charged in court, and convicted in court compared to those without
autism. However, those charged with an offence were significantly more likely to
be charged with serious and violent offences, offences against the person and
against property. Our findings indicate that, although young people with autism
were not over-represented in the criminal justice system, disparities in offence
types and incarceration rates among those charged with an offence suggest the
importance of identification and appropriate response to autism within the
criminal justice system.
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Affiliation(s)
- Nicholas Bowden
- A Better Start National Science Challenge; University of Auckland, New Zealand.,A Better Start National Science Challenge; University of Otago, New Zealand
| | - Barry Milne
- A Better Start National Science Challenge; University of Auckland, New Zealand
| | - Richard Audas
- A Better Start National Science Challenge; University of Auckland, New Zealand.,A Better Start National Science Challenge; University of Otago, New Zealand
| | | | - Joanne Dacombe
- A Better Start National Science Challenge; University of Otago, New Zealand.,Autism New Zealand, New Zealand
| | | | - Jesse Kokaua
- A Better Start National Science Challenge; University of Auckland, New Zealand.,A Better Start National Science Challenge; University of Otago, Wellington, New Zealand
| | - Sheree Gibb
- A Better Start National Science Challenge; University of Auckland, New Zealand.,A Better Start National Science Challenge; University of Otago, Wellington, New Zealand
| | - Nathan Hughes
- A Better Start National Science Challenge; University of Auckland, New Zealand
| | | | | | - Barry Taylor
- A Better Start National Science Challenge; University of Auckland, New Zealand.,A Better Start National Science Challenge; University of Otago, New Zealand
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14
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Sanlier N, Kocabas Ş. The effect of probiotic, prebiotic and gut microbiota on ASD: A review and future perspectives. Crit Rev Food Sci Nutr 2021; 63:2319-2330. [PMID: 34486891 DOI: 10.1080/10408398.2021.1973957] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Autism spectrum disorder is a serious neurodevelopmental disease that affects social communication and behavior, characterized by an increasingly common immune mechanism and various complications in the gastrointestinal system. Symptoms of autism can generally vary according to the genetic background of the individuals, the environment in which they live. The microbiota of individuals with autism is also different from healthy individuals. Recently, probiotics, prebiotic, fecal microbiota transplantation, diet therapy, etc. options have come to the fore. Cofactors are even more important at this stage. Since it is related to the gut microbiota, immune mechanism, gastrointestinal system, attention has been drawn to the relationship between dysbiosis, autism in the intestine. The component of the gut microbiota in individuals with autism has been linked with gastrointestinal symptoms that develop with autism severity. However, the role of the microbiota in diagnosis, follow-up, treatment is not clear yet, and its two-way relationship with the nervous system makes it difficult to establish a cause-effect relationship. Nutritional cofactors required in neurotransmitter synthesis and enzyme activation must be regularly and adequately taken to maximize brain functions in autistic individuals. Therefore, this study was conducted to investigate the cause-effect relationship of ASD with microbiota and brain-gut axis, probiotic-prebiotic use.
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Affiliation(s)
- Nevin Sanlier
- Department of Nutrition and Dietetics, School of Health Sciences, Ankara Medipol University, Ankara, Turkey
| | - Şule Kocabas
- Department of Nutrition and Dietetics, School of Health Sciences, Ankara Medipol University, Ankara, Turkey
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15
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Rydzewska E, Fleming M, Mackay D, Young-Southward G, Blacher J, Ross Bolourian Y, Widaman K, Cooper SA. General health status of youth with autism with and without intellectual disabilities transitioning from special education, and its relationship to personal and family circumstances: longitudinal cohort study. INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES 2021; 69:515-523. [PMID: 37346258 PMCID: PMC10281398 DOI: 10.1080/20473869.2021.1966600] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 05/20/2021] [Revised: 08/05/2021] [Accepted: 08/05/2021] [Indexed: 06/23/2023]
Abstract
Objective: Transition from school to early adulthood incurs many changes and may be associated with deterioration in general health in youth with autism. We aimed to investigate this. Method: The National Longitudinal Transitions Study-2 is a USA nationally representative sample of youth receiving special education services, aged 13-17 at wave 1, followed-up over 10 years in five data collection waves. We conducted random-effects ordered logistic regressions to determine the odds ratios (OR) with 95% confidence intervals of wave, age, sex, ethnicity/race, additional intellectual disabilities, parental/guardian relationship status, and household income being associated with general health status in youth with autism. Results: Across waves, only between 74.3%-69.6% had excellent/very good health (71.7%-58.8% in those with co-occurring intellectual disabilities), but wave was not associated with health status. Associations were with age OR = 1.18 (1.04, 1.33), co-occurring intellectual disabilities OR = 1.56 (1.00, 2.44), and household income OR = 0.61 (0.40, 0.94) at $30,001-$50,000, OR = 0.44 (0.27, 0.72) at $50,001-$70,000, and OR = 0.34 (0.20, 0.56) at $70,001+. Sex, ethnicity/race, and parental/guardian relationship status were not associated with health status. Conclusion: There was little change in general health status longitudinally across the transitional period, but the proportion with excellent/very good health was low at each wave. Transitional planning should consider co-occurring intellectual disabilities, and the wider socioeconomic context in which children/youth with autism are raised. Lack of other longitudinal studies indicates a need for replication.
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Affiliation(s)
- Ewelina Rydzewska
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Michael Fleming
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | - Daniel Mackay
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
| | | | - Jan Blacher
- Graduate School of Education, University of California Riverside, Riverside, CA, USA
| | | | - Keith Widaman
- Graduate School of Education, University of California Riverside, Riverside, CA, USA
| | - Sally-Ann Cooper
- Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK
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16
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Dumbuya A, Comnick C, Xie XJ, Marchini L. Types of dental procedures provided to adults with autism spectrum condition: A descriptive study. SPECIAL CARE IN DENTISTRY 2021; 41:553-558. [PMID: 33852747 DOI: 10.1111/scd.12596] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/17/2021] [Revised: 04/01/2021] [Accepted: 04/03/2021] [Indexed: 12/13/2022]
Abstract
PURPOSE/AIM To investigate demographic and systemic health characteristics, and the types of dental procedures performed for adults with autism that had sought care at a dental school. MATERIALS AND METHODS De-identified data were collected from the records of patients aged 18+ who have self-reported autism. Each patient's age, gender, BMI, mental health, heart disease, xerostomia, tobacco use, alcohol use, diabetes, use of drugs, seizures, and total number of medications, as well as the type and number of dental codes used in the care of that patient within each code category were included as variables. RESULTS The sample was composed by 244 patients. Mean age was 29.8 years (±12.3), 64.8% were males, and mean BMI was 29.9 (±8.1). Mental health condition was reported by 79.9%, heart disease by 25.4%, xerostomia by 21.7%, 20.9% reported using tobacco, 18.9% reported using alcohol, 14.8% reported having diabetes, 10.2% reported using drugs, and 3.7% reported having seizures. The median number of dental procedures per patient was nine, and exams, preventive, operative, and surgical procedures were the most common ones. CONCLUSIONS Adult patients with autism were overweight/obese young males. Most common dental procedures were exams, followed by preventive, operative, and surgical procedures.
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Affiliation(s)
- Aminata Dumbuya
- The University of Iowa College of Dentistry and Dental Clinics, Iowa City, Iowa, USA
| | - Carissa Comnick
- The University of Iowa College of Dentistry and Dental Clinics, Iowa City, Iowa, USA
| | - Xian Jin Xie
- The University of Iowa College of Dentistry and Dental Clinics, Iowa City, Iowa, USA
| | - Leonardo Marchini
- The University of Iowa College of Dentistry and Dental Clinics, Iowa City, Iowa, USA.,Department of Preventive and Community Dentistry, The University of Iowa College of Dentistry and Dental Clinics, Iowa City, Iowa, USA
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17
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Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. Eur J Hum Genet 2021; 29:625-636. [PMID: 33437032 PMCID: PMC8115148 DOI: 10.1038/s41431-020-00769-7] [Citation(s) in RCA: 18] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/28/2020] [Revised: 10/15/2020] [Accepted: 10/21/2020] [Indexed: 11/08/2022] Open
Abstract
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.
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Affiliation(s)
- Meena Balasubramanian
- Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
- Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
| | - Alexander J M Dingemans
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
| | - Shadi Albaba
- Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
| | - Ruth Richardson
- Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK
| | - Thabo M Yates
- Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
| | - Helen Cox
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK
| | - Sofia Douzgou
- Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK
- Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK
| | - Ruth Armstrong
- East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK
| | - Francis H Sansbury
- All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
| | - Katherine B Burke
- All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
| | - Andrew E Fry
- All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
| | - Nicola Ragge
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK
- Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK
| | - Saba Sharif
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK
| | - Alison Foster
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK
| | - Annachiara De Sandre-Giovannoli
- Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France
- Department of Medical Genetics, La Timone Children's Hospital, Marseille, France
- Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France
| | - Sahar Elouej
- Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France
| | - Pradeep Vasudevan
- Leicester Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK
| | - Sahar Mansour
- Clinical Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK
| | - Kate Wilson
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
| | - Helen Stewart
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
| | - Solveig Heide
- Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France
| | - Caroline Nava
- Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France
| | - Boris Keren
- Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France
| | - Serwet Demirdas
- Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands
| | - Alice S Brooks
- Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands
| | - Marie Vincent
- Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France
- Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France
| | - Bertrand Isidor
- Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France
- Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France
| | - Sebastien Küry
- Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France
- Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France
| | - Meyke Schouten
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
| | - Erika Leenders
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
| | - Wendy K Chung
- Departments of Pediatrics and Medicine, Columbia University, New York, USA
| | - Arie van Haeringen
- Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
| | - Thomas Scheffner
- Klinik für Kinder- und Jugendmedizin, Perinatal- und Stoffwechselzentrum, Reutlingen, Germany
| | - Francois-Guillaume Debray
- Metabolic Unit-Department of Medical Genetics, CHU & University Liège Domaine L Sart-Tilman Bât B35, B-4000, Liège, Belgium
| | - Susan M White
- Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia
- Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
| | - Maria Irene Valenzuela Palafoll
- Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain
| | - Rolph Pfundt
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
| | - Ruth Newbury-Ecob
- University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK
| | - Tjitske Kleefstra
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands
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Gulisano M, Barone R, Mosa MR, Milana MC, Saia F, Scerbo M, Rizzo R. Incidence of Autism Spectrum Disorder in Youths Affected by Gilles de la Tourette Syndrome Based on Data from a Large Single Italian Clinical Cohort. Brain Sci 2020; 10:brainsci10110812. [PMID: 33147879 PMCID: PMC7692268 DOI: 10.3390/brainsci10110812] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2020] [Revised: 10/30/2020] [Accepted: 10/31/2020] [Indexed: 01/24/2023] Open
Abstract
Gilles de la Tourette syndrome (GTS) and autism spectrum disorder (ASD) are etiologically related neurodevelopmental disorders with an onset age before 18 years and a reported comorbidity of 2.9–20%. The aim of the present study was to identify the incidence of ASD in a large clinical sample of individuals affected by GTS and to compare our results with previously reported incidences. We retrospectively analyzed clinical data (n = 1200) from January 2010 to March 2019 obtained from the outpatient Catania Tourette Clinic, part of the Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department of Catania University. We used internationally validated evaluation tools. The neuropsychological evaluation was carried out by an expert and a certificated team of child and adolescent neurologists, supervised by two expert child neurologists (R.R. and M.G.). We investigated 975 GTS-affected individuals of various socioeconomic levels aged 5–18 years, and 8.9% (n = 87) were affected by ASD. The incidence of GTS with ASD was significantly lower (p < 0.001) in children than in adolescents. No statistically significant differences were found in the sex distribution and age of onset of tics between individuals with GTS alone and those with GTS and ASD. The incidence of GTS and ASD comorbidity in this study was high, and this has several implications in terms of treatment and prognosis.
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Garcia Primo P, Weber C, Posada de la Paz M, Fellinger J, Dirmhirn A, Holzinger D. Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria. Brain Sci 2020; 10:brainsci10070448. [PMID: 32674382 PMCID: PMC7407505 DOI: 10.3390/brainsci10070448] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2020] [Revised: 07/08/2020] [Accepted: 07/09/2020] [Indexed: 12/31/2022] Open
Abstract
This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger’s syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger’s syndrome, should be raised among families and healthcare professionals.
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Affiliation(s)
- Patricia Garcia Primo
- Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria; (P.G.P.); (C.W.); (J.F.); (D.H.)
| | - Christoph Weber
- Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria; (P.G.P.); (C.W.); (J.F.); (D.H.)
- Department for Inclusive Education, University of Education Upper Austria, 4020 Linz, Austria
| | - Manuel Posada de la Paz
- Institute of Rare Diseases Research (IIER) & CIBERER, Instituto de Salud Carlos III, 28029 Madrid, Spain
- Correspondence:
| | - Johannes Fellinger
- Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria; (P.G.P.); (C.W.); (J.F.); (D.H.)
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, 4020 Linz, Austria;
- Division of Social Psychiatry, Medical University of Vienna, 1010 Vienna, Austria
| | - Anna Dirmhirn
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, 4020 Linz, Austria;
| | - Daniel Holzinger
- Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria; (P.G.P.); (C.W.); (J.F.); (D.H.)
- Institut für Sinnes- und Sprachneurologie, Konventhospital Barmherzige Brüder, 4020 Linz, Austria;
- Institute of Linguistics, Karl-Franzens University of Graz, 8010 Graz, Austria
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20
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Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10-11 Year-Old Children and Regional Disparities. J Clin Med 2020; 9:jcm9072163. [PMID: 32650567 PMCID: PMC7408756 DOI: 10.3390/jcm9072163] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2020] [Revised: 06/30/2020] [Accepted: 07/03/2020] [Indexed: 12/21/2022] Open
Abstract
Autism spectrum disorders (ASD) constitute a public health concern with increasing prevalence worldwide. We aimed to estimate prevalence and age at diagnosis in Greece, where no large-scale prevalence study has ever been conducted. Aggregate data were collected on ASD diagnoses by gender and calendar year of diagnosis up to 2019, for children born in 2008 and 2009, from the Centers for Educational and Counseling Support, which evaluate children to receive special educational support in school. Coverage was 87.1% of centers and 88.1% of schoolchildren born in 2008–9. ASD prevalence overall was 1.15% (1.83% males, 0.44% females; ratio 4.14:1), ranging from 0.59% to 1.50% in Greece’s 13 regions. In five regions, prevalence differed significantly between centers. Overall, only 3.8% of diagnoses were made before the fourth year after birth and 42.7% before the sixth year, with considerable variation between regions. Approximate mean age at diagnosis was six years and one month, and about three months earlier for girls than for boys. Our results provide evidence-based information to guide service planning and development at national and regional levels. Particular attention should be paid to smoothing out inequalities regarding service accessibility and provision. Emphasis should be given to earlier identification and diagnosis of ASD.
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21
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Brown DM, Arbour-Nicitopoulos KP, Martin Ginis KA, Latimer-Cheung AE, Bassett-Gunter RL. Examining the relationship between parent physical activity support behaviour and physical activity among children and youth with autism spectrum disorder. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2020; 24:1783-1794. [PMID: 32476438 DOI: 10.1177/1362361320922658] [Citation(s) in RCA: 32] [Impact Index Per Article: 6.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
LAY ABSTRACT Children and youth with autism spectrum disorder engage in less physical activity than neurotypically developing peers. This may be due to factors associated with autism spectrum disorder at the individual and environmental level that can make physical activity participation more challenging. Parent support is a known determinant of physical activity among children and youth; however, limited research has explored the relationship between parent physical activity support behaviour and child physical activity behaviour within the autism spectrum disorder population. The purpose of this study was to examine the relationship between parent physical activity support behaviour and physical activity levels of children and youth with autism spectrum disorder. Parents (n = 201) of school-aged children and youth with autism spectrum disorder completed measures of parent physical activity support (intentions, behavioural regulation, support behaviour), as well as their child's physical activity behaviour. The results showed that parent's intentions to provide physical activity support were associated with their support behaviour for their child's physical activity (e.g. encouragement, being active together). Parents who followed through with their intentions to provide support reported using behavioural regulation strategies such as goal setting and planning more often. Finally, the results showed parent physical activity support behaviour was positively associated with child physical activity behaviour. Findings suggest parents play an instrumental role in the physical activity behaviour of children and youth with autism spectrum disorder. Family-level interventions targeting parents' behavioural regulation strategies to provide physical activity support may be an effective strategy to increase physical activity in children and youth with autism spectrum disorder.
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