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Dounavi K, Koldas M. Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review. J Autism Dev Disord 2025; 55:569-584. [PMID: 38353915 PMCID: PMC11813954 DOI: 10.1007/s10803-023-06231-z] [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: 12/22/2023] [Indexed: 02/12/2025]
Abstract
Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition for which no prenatal or early life screening tests exist. Early life recognition of ASD is key to accessing behavioral intervention when brain plasticity is at its peak. The purpose of our study was to systematically review the literature researching parental perspectives around early life screening for autism and specifically genetic testing. A total of 30 studies were included and coded against the following variables: parental characteristics, child characteristics, research design, data collection and data analysis methods, type of early screening, and parental perspectives towards early life screening and genetic testing. The outcomes of the review showed that caregivers need more knowledge about ASD genetic testing, they are in general in favor of early life screening, and they prefer to access ASD genetic testing and early behavioral intervention as early as possible. As emerging genetic tests are likely to increase diagnostic accuracy for ASD in the near future, it is of paramount importance for research and practice to embrace parental needs and preferences. Healthcare providers can be pivotal in empowering parents to make informed decisions through clear, compassionate communication and counseling. Future research should seek to fill in an essential gap in the literature, which is to capture parental views from a diverse population.
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Affiliation(s)
- Katerina Dounavi
- School of Social Sciences, Education & Social Work, Queen's University of Belfast, 20 College Green, Belfast, BT7 1LN, Northern Ireland, United Kingdom.
| | - Meral Koldas
- School of Social Sciences, Education & Social Work, Queen's University of Belfast, 20 College Green, Belfast, BT7 1LN, Northern Ireland, United Kingdom
- Integrated Center for Autism Spectrum Disorders (iCASD), Munroe-Meyer Institute, University of Nebraska Medical Centre, Omaha, USA
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2
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Montiel-Nava C, Vargas I, Gonzalez-Avila Z, Montenegro MC, Ramírez AC. Pilgrimage for an autism diagnosis: A study of Venezuelan parents' experiences. Transcult Psychiatry 2024; 61:95-106. [PMID: 37964582 DOI: 10.1177/13634615231211482] [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] [Indexed: 11/16/2023]
Abstract
It cannot be assumed that the experience of having an autistic child is the same across countries since demographic and systemic factors are as diverse as the manifestation of ASD symptomatology. This study explores the lived experiences of 20 Venezuelan parents after receiving an autism diagnosis for their child. Applied thematic analysis was used to analyze parental attitudes, challenges in identifying their child's delay, access to diagnostic services, beliefs towards autism, professional evaluations, family support, and perceptions toward health and educational services for autistic children. Venezuelan parents reported a generalized lack of autism awareness, an unsupportive school system, and judgment from their extended family. Despite the universal health coverage in the country, Venezuelan parents commented on the scarcity of services, as well as the lengthy and costly processes to receive an ASD diagnosis. The results support previous research findings showing that socioeconomic factors influence how parents experience the process of obtaining an autism diagnosis for their children. For most Venezuelan parents, it might imply a long journey in which limited resources and knowledge about autism will determine its route and length. For parents, cultural values and spiritual and religious beliefs will serve as both coping mechanisms and barriers to accessing services.
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Affiliation(s)
- Cecilia Montiel-Nava
- Department of Psychological Sciences, Universidad de Texas Rio Grande Valley, Edinburg, TX, USA
| | - Irina Vargas
- Escuela de Psicología, Universidad Rafael Urdaneta, Maracaibo, Venezuela
| | - Zoila Gonzalez-Avila
- Department of Child and Youth Mental Health, Vancouver Coastal Health, BC, Canada
| | | | - Ana C Ramírez
- Department of Psychological Sciences, Universidad de Texas Rio Grande Valley, Edinburg, TX, USA
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3
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Asmare RF, Taye FN, Kotecho MG, Mishna F, Regehr C. Towards a "New Mothering" Practice? The Life Experiences of Mothers Raising a Child with Autism in Urban Ethiopia. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2023; 20:5333. [PMID: 37047948 PMCID: PMC10094236 DOI: 10.3390/ijerph20075333] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 01/31/2023] [Revised: 03/15/2023] [Accepted: 03/28/2023] [Indexed: 06/19/2023]
Abstract
Autism spectrum disorder (ASD) is a complex neurological and developmental disorder that has seen an increase in prevalence over the past two decades, particularly in low and middle-income countries. The purpose of the current paper is to examine the experiences of mothers in Ethiopia raising a child with ASD through employing a qualitative research design involving semi-structured interviews with twenty mothers. The experiences of mothers in this study fell into three thematic areas: (1) grieving and experiencing other emotions arising from the diagnosis of their child; (2) developing, understanding and defining autism; and (3) accepting the diagnosis and developing coping strategies for raising their child. The findings revealed that raising a child with autism introduced a new lifelong experience to mothers' everyday lives, profoundly changing their parenting role and transforming their view of mothering. Recognition of the experience of "new mothering" and mothers' meaning-making process, stress, coping mechanisms and resilience is critical to informing policies, programs, counseling and other therapeutic efforts to assist children with autism and their families for social workers in Ethiopia and those working with the Ethiopian diaspora in other regions of the world.
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Affiliation(s)
- Rahel Fentahun Asmare
- School of Social Work, Addis Ababa University, Addis Ababa P.O. Box 1176, Ethiopia; (R.F.A.); (F.N.T.); (M.G.K.)
| | - Fasil Nigussie Taye
- School of Social Work, Addis Ababa University, Addis Ababa P.O. Box 1176, Ethiopia; (R.F.A.); (F.N.T.); (M.G.K.)
| | - Messay Gebremariam Kotecho
- School of Social Work, Addis Ababa University, Addis Ababa P.O. Box 1176, Ethiopia; (R.F.A.); (F.N.T.); (M.G.K.)
- Department of Social Work and community development, University of Johannesburg, Johannesburg P.O. Box 526, South Africa
| | - Faye Mishna
- Factor-Inwentash Faculty of Social Work, University of Toronto, Toronto, ON M5S, Canada;
| | - Cheryl Regehr
- Factor-Inwentash Faculty of Social Work, University of Toronto, Toronto, ON M5S, Canada;
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Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA. Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health. Eur J Hum Genet 2022; 30:1138-1146. [PMID: 34776508 PMCID: PMC9553933 DOI: 10.1038/s41431-021-00966-y] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2021] [Revised: 09/01/2021] [Accepted: 09/13/2021] [Indexed: 02/07/2023] Open
Abstract
Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families' preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a 'right not to know'. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children's future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a "right not to know". These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.
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Affiliation(s)
- Jarle Johannessen
- K. G. Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway.
- NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway.
| | - Terje Nærland
- K. G. Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway
- NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway
| | - Sigrun Hope
- K. G. Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway
- NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway
| | - Tonje Torske
- Division of Mental Health and Addiction, Vestre Viken Hospital Trust, Drammen, Norway
| | - Anett Kaale
- NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway
- Department of Special Needs Education, University of Oslo, Oslo, Norway
| | | | - Eva Malt
- Institute of Clinical Medicine, Campus Ahus, University of Oslo, Oslo, Norway
- Department of Adult Habilitation, Akershus University Hospital, Nordbyhagen, Norway
| | - Srdjan Djurovic
- Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
- NORMENT, Department of Clinical Science, University of Bergen, Bergen, Norway
| | - Marcella Rietschel
- Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Faculty of Medicine Mannheim, University of Heidelberg, Heidelberg, Germany
| | - Ole A Andreassen
- K. G. Jebsen Centre for Neurodevelopmental Disorders, Oslo, Norway
- NORMENT, Institute of Clinical Medicine, University of Oslo, Oslo, Norway
- Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway
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5
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Tham M, Bendall S, Carlyon-Stewart T, Polari A, Hartmann J, Kerr M, Amminger P, McGorry P, Nelson B, Ratheesh A. My child's future mental health: Carer's engagement with risk identification in an intervention study for youth with at-risk mental states. Early Interv Psychiatry 2022; 16:626-631. [PMID: 34414674 DOI: 10.1111/eip.13206] [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: 05/24/2021] [Revised: 08/02/2021] [Accepted: 08/04/2021] [Indexed: 10/20/2022]
Abstract
AIM Prevention and early intervention efforts of serious mental illnesses has yielded promising results. However, alongside benefits, several ethical concerns have been raised, including the effects of being identified as being at-risk. In these debates, the voice of parents or carers is conspicuously absent. This is especially concerning as several at-risk interventions are trialled in under-age youth where parents consent on behalf of young people. Therefore, this study aimed to understand carer's experiences of their teenager being identified as at risk for psychosis. METHODS Semi-structured interviews were conducted with seven carers who had provided consent for their teenager to participate in a stepped intervention study for youth at-risk for psychosis. Questions explored their experiences regarding having their teenager being identified as at-risk. Transcripts were analysed using thematic analysis. RESULTS We identified five main themes from seven female carers' experiences of risk identification including: (a) recall of risk information was limited, or variable, (b) goal of risk disclosure was perceived to be positive, (c) negative emotions were associated with knowledge of risk, (d) relief from uncertainty and helplessness and (e) effects of risk disclosure were mediated by individual circumstance. CONCLUSION Overall, the results demonstrate that carers' experience of risk disclosure varied with factors surrounding their individual circumstances, and the process of disclosure. Whilst participants acknowledged potential adverse effects associated with risk disclosure, many still adopted a positive outlook. Tailoring safe and effective disclosure of risk to suit the needs of youth and carers could outweigh the potential risks.
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Affiliation(s)
- Michael Tham
- Orygen Research Centre, Parkville, Victoria, Australia.,Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia
| | - Sarah Bendall
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Thomas Carlyon-Stewart
- Orygen Research Centre, Parkville, Victoria, Australia.,Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia
| | - Andrea Polari
- Orygen Research Centre, Parkville, Victoria, Australia.,Orygen Specialist Programs, Orygen Youth Health, Parkville, Victoria, Australia
| | - Jessica Hartmann
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Melissa Kerr
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Paul Amminger
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Patrick McGorry
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Barnaby Nelson
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
| | - Aswin Ratheesh
- Orygen Research Centre, Parkville, Victoria, Australia.,Centre for Youth Mental Health, University of Melbourne, Melbourne, Victoria, Australia
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Li M, Zhao SX, Chen WJ, Huang TY, Chen LS. Knowledge and Attitudes toward Genetic Testing for Autism Spectrum Disorders among Parents of Affected Children in Taiwan. Genes (Basel) 2022; 13:239. [PMID: 35205283 PMCID: PMC8871752 DOI: 10.3390/genes13020239] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/24/2021] [Revised: 01/22/2022] [Accepted: 01/25/2022] [Indexed: 02/01/2023] Open
Abstract
The prevalence of autism spectrum disorders (ASD) in Taiwan has been increasing, and genetic testing for ASD has been available and provided to parents of children diagnosed with ASD in Taiwan. However, there is still limited understanding of Taiwanese parents' knowledge of and attitudes toward such testing. Therefore, the present study addressed this gap by assessing the attitudes toward as well as actual and perceived knowledge of ASD genetic testing among Taiwanese parents of children diagnosed with ASD. A sample of 443 parents of children with ASD recruited from 236 public schools in Taiwan completed a paper-and-pencil survey. Although parents generally held favorable attitudes toward ASD genetic testing, they had deficient knowledge of such test (with only a 31.4% average correct rate on the actual knowledge scale). Tailored health education materials should be developed to improve the knowledge of ASD genetic testing among parents with affected children in Taiwan.
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Affiliation(s)
- Ming Li
- Department of Health Sciences, Towson University, Towson, MD 21252, USA;
| | - Shi-Xi Zhao
- Department of Health, Exercise & Sports Sciences, University of New Mexico, Albuquerque, NM 87131, USA;
| | - Wei-Ju Chen
- Department of Psychology, The University of Texas Permian Basin, Odessa, TX 79762, USA;
| | - Tse-Yang Huang
- Department of Special Education, National Tsing Hua University, Hsinchu 30013, Taiwan;
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA
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Zhang Z, Kramer J, Wang H, Chen WJ, Huang TY, Chen YJ, Tseng TS, Chen LS. Attitudes toward Pursuing Genetic Testing among Parents of Children with Autism Spectrum Disorder in Taiwan: A Qualitative Investigation. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2021; 19:118. [PMID: 35010379 PMCID: PMC8750339 DOI: 10.3390/ijerph19010118] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/15/2021] [Revised: 12/14/2021] [Accepted: 12/14/2021] [Indexed: 05/12/2023]
Abstract
BACKGROUND The diagnosis of autism spectrum disorder (ASD) cases is increasing in Taiwan. Genetic testing for children with ASD offers several potential benefits and is available with out-of-pocket expenses. Parents play a pivotal role in having their children with ASD tested; therefore, understanding their perceptions of, and perceived barriers to genetic testing is vital. METHODS Semi-structured interviews were conducted with 39 parents of children with ASD in Taiwan. Interviews were recorded and transcribed verbatim. NVivo 12 software (QSR International, Doncaster, Australia) was used to facilitate an inductive coding methodology. RESULTS The majority of participants (74.4%) supported ASD genetic testing for their children with ASD, citing reasons such as clarifying ASD etiology, well-informed family planning, contributing to ASD research, and early ASD detection and intervention. Others indicated that they were either against such testing (17.9%), or unsure (7.7%) about whether to take their children with ASD for genetic testing. Those who were opposed reported that their main concerns related to perceptions of no value of genetic testing, potential for family conflict, and financial difficulties. CONCLUSIONS Most of the parents of children with ASD that we interviewed expressed favorable views of ASD genetic testing. There exists a need to increase parental access to education and counseling, and to include testing coverage in Taiwanese national health insurance.
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Affiliation(s)
- Zihan Zhang
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (J.K.); (H.W.)
| | - Justin Kramer
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (J.K.); (H.W.)
| | - Haocen Wang
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (J.K.); (H.W.)
| | - Wei-Ju Chen
- Department of Psychology, The University of Texas Permian Basin, Odessa, TX 79762, USA;
| | - Tse-Yang Huang
- Department of Special Education, National Tsing Hua University, Hsinchu 30013, Taiwan;
| | - Yann-Jang Chen
- Department of Life Sciences and Institute of Genome Sciences, National Yang Ming University, Taipei 11211, Taiwan;
| | - Tung-Sung Tseng
- Behavioral and Community Health Sciences Program, School of Public Health, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA;
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (J.K.); (H.W.)
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8
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Pasca C, Carroll R, Cragun RT, Cragun DL. Knowledge and perceptions of the genetic counseling profession among a national cross-sectional sample of U.S. adults. J Genet Couns 2021; 31:206-217. [PMID: 34288232 DOI: 10.1002/jgc4.1473] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/18/2021] [Revised: 06/19/2021] [Accepted: 06/25/2021] [Indexed: 12/16/2022]
Abstract
Awareness of the genetic counseling (GC) profession may influence access to genetic services, yet awareness among the U.S. population is unknown. A survey of U.S. adults was conducted using age- and sex-based quotas. Participants were asked if they had heard of the GC profession and to describe what genetic counselors (GCs) do. After reading a brief description of what GCs do, participants were asked the likelihood they would request to see a genetic counselor if they were concerned about a genetic condition. We used descriptive statistics to characterize the population, logistic regression to determine factors related to awareness of the GC profession, and ordinary least squares regression to identify which factors correlated with likelihood of seeking GC services. Thematic analysis was used to code open-ended responses. Among the final sample of 543, the majority were White individuals (79.7%) with an average age of 46.5 and median income between $60,000 and $69,999. Although 20% indicated they had heard of the GC profession, further analysis of the qualitative follow-up question suggested only 13.4% understood the role of GCs (CI 10.6%-16.3%). Factors positively and significantly correlated with knowledge of the GC profession included identifying as White or female and having higher educational attainment or higher science knowledge after controlling for income, age, and political views. Approximately 45% of respondents indicated they would likely or very likely seek GC if concerned about a genetic condition. Biological sex, age, religious affiliation, science knowledge, and awareness of the GC profession were significantly correlated with likelihood of seeking GC services while controlling for race, income, educational attainment, and political views. Curiosity/interest, the perception of benefits, and trust in GCs were all major themes that emerged to explain reasons for seeking an appointment with GCs. Lack of awareness, lack of perceived benefit, and lack of trust in GCs or greater trust in other healthcare providers were reasons for not wanting a GC appointment. Despite the 50-year existence of the GC profession, awareness remains low and negative attitudes exist.
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Affiliation(s)
- Christina Pasca
- Department of Sociology, University of Tampa, Tampa, FL, USA
| | - Riley Carroll
- College of Public Health, University of South Florida, Tampa, FL, USA
| | - Ryan T Cragun
- Department of Sociology, University of Tampa, Tampa, FL, USA
| | - Deborah L Cragun
- College of Public Health, University of South Florida, Tampa, FL, USA
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Chen WJ, Zhang Z, Wang H, Tseng TS, Ma P, Chen LS. Perceptions of Autism Spectrum Disorder (ASD) Etiology among Parents of Children with ASD. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2021; 18:6774. [PMID: 34202481 PMCID: PMC8297016 DOI: 10.3390/ijerph18136774] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 05/25/2021] [Revised: 06/18/2021] [Accepted: 06/22/2021] [Indexed: 11/16/2022]
Abstract
BACKGROUND Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted or repetitive behaviors. Parental perceptions of the etiology of their child's ASD can affect provider-client relationships, bonding between parents and their children, and the prognosis, treatment, and management of children with ASD. Thus, this study sought to examine the perceptions of ASD etiology of parents of children with ASD. METHODS Forty-two parents of children diagnosed with ASD were recruited across Texas. Semi-structured interviews were conducted individually. All interviews were recorded and later transcribed verbatim for content analysis utilizing NVivo 12.0 (QSR International, Doncaster, Australia). RESULTS The content analysis identified the following themes regarding parental perceptions of ASD etiology: Genetic factors (40.5%), environmental factors (31.0%), problems that occurred during pregnancy or delivery (23.8%), vaccinations (16.7%), other health problems (7.1%), parental age at the time of pregnancy (4.8%), and spiritual or religious factors (2.4%). CONCLUSIONS The parental perceptions of ASD etiology were diverse, but several views, such as vaccinations and spiritual or religious factors, were not based on scientific evidence. Health professionals and researchers can use these findings to develop and provide targeted education to parents who have children with ASD. Our findings also support policymakers in developing campaigns designed to increase parental ASD awareness and knowledge.
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Affiliation(s)
- Wei-Ju Chen
- Department of Psychology, The University of Texas Permian Basin, Odessa, TX 79762, USA;
| | - Zihan Zhang
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (H.W.)
| | - Haocen Wang
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (H.W.)
| | - Tung-Sung Tseng
- Health Sciences Center, Behavioral and Community Health Sciences Program, School of Public Health, Louisiana State University, New Orleans, LA 70112, USA;
| | - Ping Ma
- Department of Health Promotion and Community Health Sciences, School of Public Health, Texas A&M University, College Station, TX 77843, USA;
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA; (Z.Z.); (H.W.)
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Amini F, Yee KW, Soh SC, Alhadeethi A, Amini R, Ng ESC. Awareness and perception of medical genetic services among Malaysian parents of autism spectrum disorders children: the lessons to be learned. ADVANCES IN AUTISM 2021. [DOI: 10.1108/aia-08-2020-0047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Abstract
Purpose
Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with uncertain etiology. Evidence shows that genetic testing can explain about 20% of cases. This study aims to assess the level of awareness and perception of medical genetic services among Malaysian parents with ASD children.
Design/methodology/approach
A cross-sectional survey using an interviewer-administered questionnaire was done among 111 parents of children with ASD from August 2017 to September 2019 in two clinics in Malaysia.
Findings
A majority of children with ASD (80.20%) were male and diagnosed at the age of 3–4 years old (47.80%). When the autistic child was born, most mothers and fathers were aged 26–30 (40.50%) and 31–35 years old (42.30%), respectively. Another child with ASD in nuclear and extended families was reported for 11.70% and 13.50%, respectively. Only 24.30% have seen a professional genetic consultant, and 19.8% have done genetic testing for affected children. The mean score of awareness of genetic services for ASD was 2.48 ± 3.30. Having medical insurance and another child with ASD in the nuclear family was significantly associated with a higher level of awareness (p = 0.01 and p < 0.001, respectively). Most of the participants have a positive perception of these services.
Originality/value
Regardless of demographic factors, participants have poor awareness of genetic services for ASD, likely because the primary physician did not recommend it upon diagnosis. Increasing health-care providers’ knowledge about the current potential of genetic testing for ASD and educational campaigns for the public are critical components of using available genetic tests to improve ASD management.
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11
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Howard K, Gibson J, Katsos N. Parental Perceptions and Decisions Regarding Maintaining Bilingualism in Autism. J Autism Dev Disord 2021; 51:179-192. [PMID: 32388758 PMCID: PMC7810638 DOI: 10.1007/s10803-020-04528-x] [Citation(s) in RCA: 18] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
Abstract
A growing body of evidence suggests that bilingual exposure does not negatively impact children on the autism spectrum. This study sought to illuminate parents’ perceptions and choices regarding maintaining bilingualism in autism. Semi-structured interviews were conducted with 16 family members in England and Wales. Data were analysed using interpretative phenomenological analysis (IPA). Although parents expressed positive attitudes towards bilingualism, these views were not always congruent with their language practices. Instead, several factors influenced decisions about language maintenance in autism, including the severity of the child’s autism, advice received, and the importance of English as the dominant societal language. This article calls for greater support for families in making language decisions that are suitable for the individual child and their family.
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Affiliation(s)
- Katie Howard
- Theoretical and Applied Linguistics, University of Cambridge, Cambridge, UK. .,Jesus College, Jesus Lane, Cambridge, CB5 8BL, UK.
| | - Jenny Gibson
- Faculty of Education, University of Cambridge, Cambridge, UK
| | - Napoleon Katsos
- Theoretical and Applied Linguistics, University of Cambridge, Cambridge, UK
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12
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Sawyer BL, Tristani-Firouzi M, Wells LE, Vatta M, Etheridge SP. Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2. HeartRhythm Case Rep 2021; 7:74-78. [PMID: 33665105 PMCID: PMC7897747 DOI: 10.1016/j.hrcr.2020.11.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/18/2022] Open
Affiliation(s)
- Briana L. Sawyer
- Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah
| | - Martin Tristani-Firouzi
- Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah
| | - Layne E. Wells
- Department of Precision Genomics, Intermountain Primary Children’s Hospital, Salt Lake City, Utah
| | - Matteo Vatta
- Invitae Corporation, San Francisco, California
- Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana
| | - Susan P. Etheridge
- Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah
- Address reprint requests and correspondence: Dr Susan P. Etheridge, University of Utah Division of Pediatric Cardiology, Department of Pediatrics, 81 N. Mario Capecchi Dr, Salt Lake City, UT 84113.
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Taresh SM, Ahmad NA, Roslan S, Ma’rof AM. Preschool Teachers' Beliefs towards Children with Autism Spectrum Disorder (ASD) in Yemen. CHILDREN-BASEL 2020; 7:children7100170. [PMID: 33036166 PMCID: PMC7601273 DOI: 10.3390/children7100170] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 07/06/2020] [Revised: 09/07/2020] [Accepted: 09/08/2020] [Indexed: 01/01/2023]
Abstract
It is perplexing that some preschool teachers not only advise parents who have children with autism spectrum disorder (ASD) to go to religious healers, but also attribute such neurological disorders to the curse of the “evil eye” or vaccines. Although it is now the twentieth century, this behavior simply reflects the concerns of over-protective teachers and the cultural misperceptions about the actual definition of ASD. In Yemen, the term “ASD”, with its wide range of symptoms, is still ambiguous among preschool teachers. Thus, in a rather insightful piece for the education community, this study has attempted to look beneath the surface of the beliefs (religious belief–social belief–personal belief) of Yemeni preschool teachers regarding ASD. Based on the data collected from 213 teachers (20–30\31–40-~≥40 age) in the Taiz district, this study found that misconceptions specific to autism spectrum disorder were strongly evidenced among teachers who taught preschoolers. Due to personal ignorance and growing superstitions, these teachers tend to believe the society’s perceptions of ASD, thus resulting in the ignorance of scientific views. However, the mass media can increase this group’s awareness of ASD by continually assessing the inaccurate views on ASD, and correcting them. And by influencing the teachers to take a more conceptual scientific approach in serving their special needs students, furthermore, by informing preschool teachers of children’s rights in normal life in the future through providing children with an optimal chance of development by early intervention.
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Affiliation(s)
- Sahar Mohammed Taresh
- Department of Foundation of Education, Faculty of Educational Studies, Universiti Putra Malaysia (UPM), Serdang 43400, Malaysia; (S.M.T.); (S.R.); (A.M.M.)
- Department of Kindergarten, Faculty of Education, Taiz University, Taiz, Yemen
| | - Nor Aniza Ahmad
- Department of Foundation of Education, Faculty of Educational Studies, Universiti Putra Malaysia (UPM), Serdang 43400, Malaysia; (S.M.T.); (S.R.); (A.M.M.)
- Correspondence:
| | - Samsilah Roslan
- Department of Foundation of Education, Faculty of Educational Studies, Universiti Putra Malaysia (UPM), Serdang 43400, Malaysia; (S.M.T.); (S.R.); (A.M.M.)
| | - Aini Marina Ma’rof
- Department of Foundation of Education, Faculty of Educational Studies, Universiti Putra Malaysia (UPM), Serdang 43400, Malaysia; (S.M.T.); (S.R.); (A.M.M.)
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14
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Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Pursuing genetic testing for children with autism spectrum disorders: What do parents think? J Genet Couns 2020; 30:370-382. [PMID: 32985757 DOI: 10.1002/jgc4.1320] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2019] [Revised: 07/21/2020] [Accepted: 07/25/2020] [Indexed: 11/11/2022]
Abstract
The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Despite the potential benefits, the utilization of genetic testing is low. We proposed an integrated theoretical framework to examine parents' intention and associated psychosocial factors in pursuing genetic testing for their children with ASD. Recruiting primarily from the Interactive Autism Network, a nationwide sample of 411 parents of children with ASD who had never pursued genetic testing for their children completed our theory-based online survey. Data were analyzed using structural equation modeling. About half of the parents were willing to pursue genetic testing for their children with ASD. Findings of the structural equation modeling suggested a good model fit between our integrated theoretical framework and survey data. Parents' intention was significantly and positively associated with their attitudes toward genetic testing, subjective norm, and self-efficacy in having their children tested. This study serves as an initial window to understand parental intention to pursue genetic testing for their children with ASD. Our findings can help physicians and genetic counselors understand, educate, counsel, and support parents' decision-making about having their children with ASD genetically tested. Furthermore, our study can also assist physicians and genetic counselors in developing theory- and evidence-based patient education materials to enhance genetic testing knowledge among parents of children with ASD.
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Affiliation(s)
- Shixi Zhao
- Department of Health, Exercise & Sports Sciences, University of New Mexico, Albuquerque, New Mexico, USA
| | - Wei-Ju Chen
- Department of Psychology, The University of Texas of the Permian Basin, Odessa, Texas, USA
| | - Shweta U Dhar
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
| | - Tanya N Eble
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
| | - Oi-Man Kwok
- Department of Educational Psychology, Texas A&M University, College Station, Texas, USA
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, Texas, USA
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15
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Goin-Kochel RP, Fombonne E, Mire SS, Minard CG, Sahni LC, Cunningham RM, Boom JA. Beliefs about causes of autism and vaccine hesitancy among parents of children with autism spectrum disorder. Vaccine 2020; 38:6327-6333. [PMID: 32732144 DOI: 10.1016/j.vaccine.2020.07.034] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/10/2019] [Revised: 07/13/2020] [Accepted: 07/16/2020] [Indexed: 12/21/2022]
Abstract
Vaccine hesitancy may be more common among parents of children with autism spectrum disorder (ASD). We examined factors associated with ASD-specific vaccine hesitancy among caregivers of children with ASD who participated in the SPARK study (Simons Foundation Powering Autism Research for Knowledge). 225 participants completed an online survey containing the Parent Attitudes About Childhood Vaccines (PACV) questionnaire (measure of vaccine hesitancy) and the Illness Perception Questionnaire revised for parents of children with ASD (IPQ-R-ASD; measure of parents' views about ASD). 65 participants (28.8%) were vaccine hesitant (PACV score ≥ 50); children of vaccine-hesitant parents (VHPs) were less likely to be first born (n = 27, 41.5%), had greater ASD-symptom severity (mean Social Communication Questionnaire score = 23.9, SD = 6.9), and were more likely to have experienced developmental regression (n = 27, 50.9%) or plateau (n = 37, 69.8%). Compared to non-hesitant parents, VHPs significantly more often endorsed accident/injury, deterioration of the child's immune system, diet, environmental pollution, general stress, parents' negative views, parents' behaviors/decisions, parents' emotional state, and vaccines as causes for ASD. VHPs also had higher scores on the Personal Control, Treatment Control, Illness Coherence, and Emotional Representations subscales of the IPQ-R than did non-hesitant parents. In the final model, ASD-related vaccine hesitancy was significantly associated with higher scores on the Emotional Representations subscale (OR = 1.13, p = 0.10), agreement with deterioration of the child's immunity as a cause of ASD (OR = 12.47, p < 0.001), the child not having achieved fluent speech (OR = 2.67, p = 0.17), and the child experiencing a developmental plateau (OR = 3.89, p = 0.002). Findings suggest that a combination of child functioning and developmental history, as well as parents' negative views about and their sense of control over ASD, influence vaccine hesitancy among parents of children with ASD.
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Affiliation(s)
- Robin P Goin-Kochel
- Department of Pediatrics, Baylor College of Medicine, United States; Autism Center, Texas Children's Hospital, 8080 N. Stadium Drive, Suite 100, Houston, TX 77054, United States.
| | - Eric Fombonne
- Departments of Psychiatry, Pediatrics & Behavioral Neuroscience, Oregon Health & Science University, Portland, OR, United States
| | - Sarah S Mire
- Department of Psychological, Health, and Learning Sciences, University of Houston, 491 Farish Hall, Houston, TX 77204, United States; Center for Clinical Research and Evidence-Based Medicine, Department of Pediatrics, University of Texas Medical School at Houston, 6431 Fannin Street, MSB 2.106, Houston, TX 77030, United States
| | - Charles G Minard
- Dan L. Duncan Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Suite 100D, Houston, TX 77030, United States
| | - Leila C Sahni
- Immunization Project, Texas Children's Hospital, 1102 Bates Avenue, Suite 1550, Houston, TX 77030, United States
| | - Rachel M Cunningham
- Immunization Project, Texas Children's Hospital, 1102 Bates Avenue, Suite 1550, Houston, TX 77030, United States
| | - Julie A Boom
- Department of Pediatrics, Baylor College of Medicine, United States; Immunization Project, Texas Children's Hospital, 1102 Bates Avenue, Suite 1550, Houston, TX 77030, United States
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16
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MacDuffie KE, Turner-Brown L, Estes AM, Wilfond BS, Dager SR, Pandey J, Zwaigenbaum L, Botteron KN, Pruett JR, Piven J, Peay HL. "If He Has it, We Know What to Do": Parent Perspectives on Familial Risk for Autism Spectrum Disorder. J Pediatr Psychol 2020; 45:121-130. [PMID: 31764985 PMCID: PMC7029696 DOI: 10.1093/jpepsy/jsz076] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2019] [Revised: 09/06/2019] [Accepted: 09/16/2019] [Indexed: 11/13/2022] Open
Abstract
OBJECTIVE Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. METHODS Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3-15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. RESULTS The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior: increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. CONCLUSIONS Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated-but still highly uncertain-risk conveyed by family history.
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Affiliation(s)
- Katherine E MacDuffie
- University of Washington Autism Center, Department of Speech & Hearing Sciences
- Seattle Children's Hospital, Treuman Katz Center for Pediatric Bioethics
| | - Lauren Turner-Brown
- University of North Carolina at Chapel Hill, TEACCH Autism Program, Department of Psychiatry
| | - Annette M Estes
- University of Washington Autism Center, Department of Speech & Hearing Sciences
| | - Benjamin S Wilfond
- Seattle Children's Hospital, Treuman Katz Center for Pediatric Bioethics
| | | | - Juhi Pandey
- Children's Hospital of Philadelphia, Center for Autism Research
| | | | - Kelly N Botteron
- Department of Psychiatry, Washington University School of Medicine in Saint Louis
| | - John R Pruett
- Department of Psychiatry, Washington University School of Medicine in Saint Louis
| | - Joseph Piven
- Department of Psychiatry, University of North Carolina at Chapel Hill
| | - Holly L Peay
- Research Triangle Institute, Center for Newborn Screening, Ethics, and Disability Studies
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17
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VanOrmer Simpson J. Commentary: Parent Perspective on Familial Risk for Autism Spectrum Disorder. J Pediatr Psychol 2020; 45:131-132. [DOI: 10.1093/jpepsy/jsz105] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/26/2019] [Revised: 12/29/2019] [Accepted: 01/02/2020] [Indexed: 11/13/2022] Open
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18
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Chen WJ, Zhao S, Huang TY, Kwok OM, Chen LS. Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2020; 17:ijerph17020476. [PMID: 31940763 PMCID: PMC7013751 DOI: 10.3390/ijerph17020476] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 10/31/2019] [Revised: 01/03/2020] [Accepted: 01/07/2020] [Indexed: 11/30/2022]
Abstract
With the rapid growing rate of autism spectrum disorders (ASDs), prenatal genetic testing (PGT) has been offered to detect various genomic disorders, including ASD, in Taiwan. However, disparities exist in this area, as there is limited research on factors associated with PGT utilization and relevant decision-making that may guide the regulations and ethical guidelines for culturally appropriate PGT services in Taiwan. This study proposed a comprehensively integrated theoretical framework for examining the intention to undergo PGT to detect ASD susceptibility genes and subsequent abortion decision-making among Taiwanese mothers of children affected by ASD. Survey data from 333 mothers of children with ASD in 236 elementary schools with special education services in Taiwan were collected and analyzed using structural equation modeling. Approximately two-thirds of the participants (66.6%) would undergo PGT to detect ASD susceptibility genes; more than half (53.1%) would terminate the hypothetically ASD-affected pregnancy. Abortion intention was associated with age, religion, attitudes toward PGT for detecting ASD susceptibility genes, and willingness to undergo such PGT. This study explores the potential impacts of PGT on Taiwanese society, and the findings are applicable to countries heavily influenced by Chinese culture, areas with Asian immigrants, and Western countries with such PGT services and/or research available.
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Affiliation(s)
- Wei-Ju Chen
- Psychology Department, The University of Texas Permian Basin, Odessa, TX 79762, USA;
| | - Shixi Zhao
- Department of Health, Exercise, and Sports Sciences, University of New Mexico, Albuquerque, NM 87131, USA;
| | - Tse-Yang Huang
- Department of Special Education, National Tsing Hua University, Hsinchu 30013, Taiwan;
| | - Oi-Man Kwok
- Department of Educational Psychology, Texas A&M University, College Station, TX 77843, USA;
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX 77843, USA
- Correspondence: ; Tel.: +1-979-862-2912
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19
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Sahni LC, Boom JA, Mire SS, Berry LN, Dowell LR, Minard CG, Cunningham RM, Goin-Kochel RP. Vaccine Hesitancy and Illness Perceptions: Comparing Parents of Children with Autism Spectrum Disorder to other Parent Groups. CHILDRENS HEALTH CARE 2020; 49:385-402. [PMID: 33716379 DOI: 10.1080/02739615.2020.1740883] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023]
Abstract
Fears persist despite compelling evidence refuting associations between vaccines and autism spectrum disorder (ASD). We compared vaccine hesitancy (VH) and beliefs about illness causes among parents of children in four groups: ASD, non-ASD developmental disorders, rheumatologic conditions, and the general pediatric population. VH was 19.9% overall; parents of children with ASD reported highest VH rates (29.5%) and more frequently attributed ASD to toxins in vaccines (28.9% vs. 15.7%, p=0.004). The odds of VH were increased among parents who attributed their child's condition to diet or eating habits (aOR 4.2; 95% CI: 1.6, 11.2) and toxins found in vaccines (aOR 20, 95% CI: 7.1, 55.9). Parents who attributed the condition to chance or bad luck were less likely to be vaccine hesitant (aOR 0.1; 95% CI: 0.03, 0.5).
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Affiliation(s)
- Leila C Sahni
- Immunization Project, Texas Children's Hospital, Houston, TX
| | - Julie A Boom
- Immunization Project, Texas Children's Hospital, Houston, TX.,Department of Pediatrics, Baylor College of Medicine, Houston, TX
| | - Sarah S Mire
- Department of Psychological, Health, and Learning Sciences, University of Houston, Houston, TX
| | - Leandra N Berry
- Department of Pediatrics, Baylor College of Medicine, Houston, TX.,Autism Center, Texas Children's Hospital, Houston, TX
| | - Lauren R Dowell
- Department of Pediatrics, Baylor College of Medicine, Houston, TX.,Autism Center, Texas Children's Hospital, Houston, TX
| | - Charles G Minard
- Dan L. Duncan Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX
| | | | - Robin P Goin-Kochel
- Department of Pediatrics, Baylor College of Medicine, Houston, TX.,Autism Center, Texas Children's Hospital, Houston, TX
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20
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Rubenstein E, Durkin MS, Harrington RA, Kirby RS, Schieve LA, Daniels J. Relationship Between Advanced Maternal Age and Timing of First Developmental Evaluation in Children with Autism. J Dev Behav Pediatr 2019; 39:601-609. [PMID: 30004996 PMCID: PMC6195454 DOI: 10.1097/dbp.0000000000000601] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
Abstract
OBJECTIVE Mothers of advanced maternal age (AMA) at childbirth (age ≥35 years) may have different perceptions of autism spectrum disorder (ASD) risk, independent of sociodemographic factors, that may affect ASD identification. We aimed to estimate associations between AMA and both age of a child's first evaluation noting developmental concerns and time from first evaluation to first ASD diagnosis. METHODS We used data for 8-year-olds identified with ASD in the 2008 to 2012 Autism and Developmental Disabilities Monitoring Network. We estimated differences in age at first evaluation noting developmental concerns and time to first ASD diagnosis by AMA using quantile and Cox regression. RESULTS Of 10,358 children with ASD, 19.7% had mothers of AMA. AMA was associated with higher educational attainment and previous live births compared with younger mothers. In unadjusted analyses, AMA was associated with earlier first evaluation noting developmental concerns (median 37 vs 40 mo) and patterns in time to first evaluation (hazard ratio: 1.12, 95% confidence interval: 1.06-1.18). Associations between AMA and evaluation timing diminished and were no longer significant after adjustment for socioeconomic and demographic characteristics. Children's intellectual disability did not modify associations between AMA and timing of evaluations. CONCLUSION Advanced maternal age is a sociodemographic factor associated with younger age of first evaluation noting developmental concerns in children with ASD, but AMA was not independently associated likely, because it is a consequence or cofactor of maternal education and other sociodemographic characteristics. AMA may be a demographic factor to consider when aiming to screen and evaluate children at risk for ASD.
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Affiliation(s)
- Eric Rubenstein
- Waisman Center, University of Wisconsin-Madison, Madison, WI
| | - Maureen S Durkin
- Department of Population Health Science, Waisman Center, University of Wisconsin-Madison, Madison, WI
| | - Rebecca A Harrington
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
| | - Russell S Kirby
- Department of Community and Family Health, University of South Florida, Tampa, FL
| | - Laura A Schieve
- National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA
| | - Julie Daniels
- Department of Epidemiology, University of North Carolina-Chapel Hill, Chapel Hill, NC
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21
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Kiely B, Vettam S, Adesman A. Correlates of genetic attributions among parents of children in the USA with developmental disabilities. APPLICATION OF CLINICAL GENETICS 2019; 12:55-61. [PMID: 31043799 PMCID: PMC6469480 DOI: 10.2147/tacg.s164757] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]
Abstract
Introduction As technologies for identifying causal genetic variants in children with autism spectrum disorders (ASD) and other developmental conditions continue to advance, there is a need to understand the factors that influence parental beliefs about the causes of their child’s disabilities. This study assessed the correlates of etiologic attributions among US parents of children with ASD, intellectual disability (ID), and/or developmental delay (DD). Methods Data were obtained from the Centers for Disease Control and Prevention’s nationally representative Survey of Pathways to Diagnosis and Services. Respondents were classified according to whether their child had ASD without ID or DD (ASD-only), ASD with ID and/or DD (ASD+ID/DD), or ID and/or DD without ASD (ID/DD-only). Respondents rated the extent to which they believed that genetics/heredity and environmental exposures (prenatal and/or postnatal) had contributed to their child’s condition. Logistic regression analyses and chi-square tests were used to assess the relationship between parental beliefs and child characteristics. Results The parents of children with comorbid ASD and ID/DD were found to be significantly less likely than those in the other condition groups to attribute their child’s condition to genetics. Within the ASD+ID/DD group, parental endorsement of genetics was lower among those who reported a history of language regression (p=0.006). Conclusion Further research is needed to evaluate the impact of parental genetic attributions on medical decision-making.
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Affiliation(s)
- Bridget Kiely
- Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA,
| | - Sujit Vettam
- Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA,
| | - Andrew Adesman
- Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA,
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22
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Matias M, Wusik K, Neilson D, Zhang X, Valencia CA, Collins K. Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results. J Genet Couns 2019; 28:182-193. [PMID: 30648779 DOI: 10.1002/jgc4.1054] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2018] [Revised: 10/16/2018] [Accepted: 10/20/2018] [Indexed: 12/14/2022]
Abstract
Whole exome sequencing (WES) is expected to impact patient management, but data surrounding the types of downstream effects and how frequently these effects are observed depending on the type of WES results received is limited. This study investigated changes to medical management and genetic counseling (GC) options following WES for individuals with positive and negative results. Electronic medical records of patients who had positive (n = 37) or negative (n = 41) WES results from Cincinnati Children's Hospital were retrospectively reviewed. Pre- and post-WES management and GC options were analyzed as were differences between positive and negative results. Almost all participants (97%) were observed to have at least one difference in medical management and/or GC options following WES. Comparing pre- and post-WES detected significant differences (p ≤ 0.05) in genetic testing, imaging, and metabolic testing regardless of WES results. Participants with positive results also had significant differences in recurrence risk, reproductive options, testing for family members, and support groups. Pre- to post-WES differences were significantly different between participants with positive and negative results in specialist referrals, lifestyle recommendations, recurrence risk, and all GC options (p ≤ 0.05); specifically, participants with positive results were more likely to have differences in these categories. Overall, differences in medical management and/or GC options were observed for participants with both types of WES results (positive and negative). Results from this study may contribute to the understanding of how WES impacts patients and their care and thus improve its utilization.
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Affiliation(s)
- Margret Matias
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.,Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio.,UnityPoint-Health Meriter Hospital, Center for Perinatal Care, Madison, Wisconsin
| | - Katie Wusik
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.,Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio
| | - Derek Neilson
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
| | - Xue Zhang
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
| | - C Alexander Valencia
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
| | - Kathleen Collins
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.,Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio
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Rutz A, Dent KM, Botto LD, Young PC, Carbone PS. Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder. J Autism Dev Disord 2018; 49:794-808. [DOI: 10.1007/s10803-018-3738-z] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/28/2022]
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Chen LS, Min J, Zhao S, Yeh YC, Huang TY. Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2018; 23:902-909. [PMID: 30073847 DOI: 10.1177/1362361318778903] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/09/2023]
Abstract
We conducted the first needs assessment study by examining the information needs in genetic testing for autism spectrum disorders among parents of children with autism spectrum disorders in Taiwan. Parents of children with autism spectrum disorders in 236 public elementary schools with special education services were invited to complete a survey. About two-thirds of participants (65.7%) had never heard about genetic testing for autism spectrum disorders. Yet, the majority (71.4%) expressed an interest in learning about this testing. The top three topics participants identified to assist them in making informed decisions before undergoing genetic testing (for themselves, their affected children, or other family members) were testing accuracy (79.7%), genetic causes of autism spectrum disorders (79.4%), and the link between testing and treatment (79.4%). A health education brochure (47.2%) was the most desired educational approach. Our results can be utilized to develop information and counseling materials for genetic testing for autism spectrum disorders in Taiwan as well as to address the needs of parents of children with autism spectrum disorders, particularly in informed decisions-making. Moreover, to promote better communication between the providers and parents, when discussing genetic testing for autism spectrum disorders with Taiwanese parents of children with autism spectrum disorders, healthcare professionals' priorities should be in line with the preferred topics identified in this study.
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Affiliation(s)
- Lei-Shih Chen
- 1 Department of Health & Kinesiology, Texas A&M University, College Station, TX, USA
| | - Jungkyung Min
- 1 Department of Health & Kinesiology, Texas A&M University, College Station, TX, USA
| | - Shixi Zhao
- 1 Department of Health & Kinesiology, Texas A&M University, College Station, TX, USA
| | - Yu-Chen Yeh
- 2 Department of Educational Psychology, Texas A&M University, College Station, TX, USA
| | - Tse-Yang Huang
- 3 Department of Special Education, National Tsing Hua University, Hsinchu, Taiwan
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DeThorne LS, Ceman S. Genetic testing and autism: Tutorial for communication sciences and disorders. JOURNAL OF COMMUNICATION DISORDERS 2018; 74:61-73. [PMID: 29879582 PMCID: PMC6083877 DOI: 10.1016/j.jcomdis.2018.05.003] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/20/2017] [Revised: 04/16/2018] [Accepted: 05/27/2018] [Indexed: 06/08/2023]
Abstract
This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.
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Affiliation(s)
- Laura S DeThorne
- Department of Speech & Hearing Science, University of Illinois, 901 S. Sixth Street, Champaign, IL, 61820, United States.
| | - Stephanie Ceman
- Department of Cell and Developmental Biology, College of Medicine, University of Illinois, 601 S. Goodwin Ave Urbana, IL, 61801, United States.
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Codina-Solà M, Pérez-Jurado LA, Cuscó I, Serra-Juhé C. Provision of Genetic Services for Autism and its Impact on Spanish Families. J Autism Dev Disord 2018; 47:2947-2956. [PMID: 28681252 PMCID: PMC5602032 DOI: 10.1007/s10803-017-3203-4] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/27/2022]
Abstract
Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.
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Affiliation(s)
- Marta Codina-Solà
- Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Institut Hospital del Mar d'Investigacions Mèdiques, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Centro de Investigación Biomédica en Red de Enfermedades Raras, Av/Monforte de Lemos, 3-5, Pabellón 11, Planta 0, 28029, Madrid, Spain
| | - Luis A Pérez-Jurado
- Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Institut Hospital del Mar d'Investigacions Mèdiques, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Centro de Investigación Biomédica en Red de Enfermedades Raras, Av/Monforte de Lemos, 3-5, Pabellón 11, Planta 0, 28029, Madrid, Spain
| | - Ivon Cuscó
- Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Institut Hospital del Mar d'Investigacions Mèdiques, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.,Centro de Investigación Biomédica en Red de Enfermedades Raras, Av/Monforte de Lemos, 3-5, Pabellón 11, Planta 0, 28029, Madrid, Spain
| | - Clara Serra-Juhé
- Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain. .,Institut Hospital del Mar d'Investigacions Mèdiques, C/Dr. Aiguader, 88, 08003, Barcelona, Spain. .,Centro de Investigación Biomédica en Red de Enfermedades Raras, Av/Monforte de Lemos, 3-5, Pabellón 11, Planta 0, 28029, Madrid, Spain.
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Li M, Huang TY, Ye J, Zhao S, Chen LS. Perceived recurrence risk of having another affected child: A survey on parents of children with autism spectrum disorders in Taiwan. PATIENT EDUCATION AND COUNSELING 2018; 101:926-931. [PMID: 29301637 DOI: 10.1016/j.pec.2017.12.013] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/17/2017] [Revised: 12/15/2017] [Accepted: 12/17/2017] [Indexed: 06/07/2023]
Abstract
OBJECTIVE Autism Spectrum Disorders (ASD) have a significant genetic predisposition. The recurrence risk of ASD ranges from 3% to 18.7% for parents having one affected child. As recurrence risk perceptions have important implications for family planning, prenatal preparation, and future children managements, absolute and relative recurrence risk perceptions of having another affected child among Taiwanese parents of children with ASD were assessed. METHODS This study collected quantitative survey data from 415 Taiwanese parents who had one child with ASD. RESULTS Participants reported their absolute recurrence risk of having another child with ASD was 33.4%. Compared to other parents with normally-developing children, merely 49.8% of participants perceived higher relative recurrence risk. By controlling for the sociodemographic characteristics, participants' absolute recurrence risk perceptions were significantly predicted by their perceived genetic causes of ASD and family history of ASD. Yet, participants' relative recurrence risk perceptions were significantly associated with only the perceived genetic etiology. CONCLUSION Taiwanese parents of children diagnosed with ASD had an incorrect understanding of their absolute and relative recurrence risks. PRACTICE IMPLICATIONS To facilitate informed decision-making in family planning, healthcare providers should discuss absolute and relative recurrence risks as well as genetic causes of ASD with this particular group.
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Affiliation(s)
- Ming Li
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, United States
| | - Tse-Yang Huang
- Department of Special Education, National Tsing Hua University, HsinChu, Taiwan
| | - Jia Ye
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, United States
| | - Shixi Zhao
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, United States
| | - Lei-Shih Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, United States.
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28
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Thai parental perception of the etiology of autism spectrum disorders with an emphasis on genetics. ASIAN BIOMED 2018. [DOI: 10.2478/abm-2010-0100] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
Abstract
Background: More than 90% of cases of autism spectrum disorders (ASDs) are idiopathic and are multi-factorial inheritant in etiology. Although parental perceptions of ASDs etiologies including genetics have been investigated well in western countries, there is no study regarding Asian parental perspectives on the genetic etiology of ASDs. Objectives: Examine what Thai parents perceived to be the etiology of ASDs with particular focus on the role of genetics, and analyze the correlation between demographics of parents and the perception of genetics as an etiology of ASDs. Methods: Children diagnosed with an ASD at Ramathibodi Hospital were recruited, and 328 questionnaires were mailed to their parents between February 1 and March 31, 2008. Based on 252 answers received, the perception of genetics as an etiology of ASDs was evaluated using univariate and multivariate analysis. Results: Among 252 parents, 44.0% cited genetics, 52% cited other prenatal and perinatal factors such as stress and chemical exposure during pregnancy, 33% cited postnatal factors such as child rearing, child’s viewing of television, and playing computer game as etiologies of ASDs. Parents’ education, positive family history of ASDs, and positive family history of speech delay were all significantly associated with the perception of genetics as an etiology of ASDs. Conclusions: Less than half of Thai parents cited genetics as an etiology of ASDs. This finding alerts medical professionals to spend more time and effort to educate and counsel parents.
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Hoang N, Cytrynbaum C, Scherer SW. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. PATIENT EDUCATION AND COUNSELING 2018; 101:352-361. [PMID: 28803755 DOI: 10.1016/j.pec.2017.07.029] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/26/2017] [Revised: 07/17/2017] [Accepted: 07/24/2017] [Indexed: 06/07/2023]
Abstract
Individuals with Autism Spectrum Disorder (ASD) share characteristics (impairments in socialization and communication, and repetitive interests and behaviour), but differ in their developmental course, pattern of symptoms, and cognitive and language abilities. The development of standardized phenotyping has revealed ASD to clinically be vastly heterogeneous, ranging from milder presentations to more severe forms associated with profound intellectual disability. Some 100 genes have now been implicated in the etiology of ASD, and advances in genome-wide testing continue to yield new data at an unprecedented rate. As the translation of this data is incorporated into clinical care, genetic professionals/counsellors, as well as other health care providers, will benefit from guidelines and tools to effectively communicate such genomic information. Here, we present a model to facilitate communication regarding the complexities of ASD, where clinical and genetic heterogeneity, as well as overlapping neurological conditions are inherent. We outline an approach for counselling families about their genomic results grounded in our direct experience from counselling families participating in an ASD research study, and supported by rationale from the literature.
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Affiliation(s)
- Ny Hoang
- Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
| | - Cheryl Cytrynbaum
- Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
| | - Stephen W Scherer
- Department of Molecular Genetics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada; McLaughlin Centre, University of Toronto, Toronto, Canada.
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Cohen SR, Miguel J. Amor and Social Stigma: ASD Beliefs Among Immigrant Mexican Parents. J Autism Dev Disord 2018; 48:1995-2009. [DOI: 10.1007/s10803-017-3457-x] [Citation(s) in RCA: 25] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
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Semensato MR, Bosa CA. Crenças Indicativas de Resiliência Parental no Contexto do Autismo. PSICOLOGIA: TEORIA E PESQUISA 2017. [DOI: 10.1590/0102.3772e33416] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
RESUMO A resiliência parental refere-se a uma parentalidade sensível e cuidadosa diante de situações críticas, como em processos diagnósticos de autismo envolvendo os filhos. Trata-se de um processo que permite aos pais desenvolver uma relação protetora frente às necessidades dos filhos e às do próprio casal, bem como elaborar o diagnóstico recebido. No atual estudo, investigaram-se indicativos de resiliência parental através da análise de conteúdo de seis entrevistas com casais cujo filho apresenta autismo. Os resultados revelaram que (a) a busca e a atribuição de sentido ao comportamento do filho e ao próprio termo autismo e (b) a capacidade de desenvolver um empoderamento nessa vivência, foram indicativos de resiliência parental importantes no processo de elaboração do diagnóstico de autismo do filho.
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Griesi-Oliveira K, Sertié AL. Autism spectrum disorders: an updated guide for genetic counseling. EINSTEIN-SAO PAULO 2017; 15:233-238. [PMID: 28767925 PMCID: PMC5609623 DOI: 10.1590/s1679-45082017rb4020] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2017] [Accepted: 05/04/2017] [Indexed: 01/08/2023] Open
Abstract
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases. Combined with clinical assessment, prenatal history evaluation and investigation of other physiological aspects, an etiological explanation for the disease can be found for approximately 30 to 40% of patients. Therefore, in view of the current knowledge about the genetic architecture of autism spectrum disorder, which has contributed for a more precise genetic counseling, and of the potential benefits that an etiological investigation can bring to patients and families, molecular genetic investigation has become increasingly important. Here, we discuss the current view of the genetic architecture of autism spectrum disorder, and list the main associated genetic alterations, the available molecular tests and the key aspects for the genetic counseling of these families.
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Abstract
Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD. Genetic disorders implicating a specific additional intervention are of specific clinical relevance. Genetic testing and counselling should be provided for all families and individuals with ASD. This article gives an overview on current basic genetic research in ASD, its clinical relevance and genetic counselling in ASD.
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Affiliation(s)
- C M Freitag
- Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Autismus-Therapie- und Forschungszentrum, Universitätsklinikum Frankfurt, Goethe-Universität Frankfurt am Main, Deutschordenstr. 50, 60528, Frankfurt am Main, Deutschland.
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34
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Johannessen J, Nærland T, Hope S, Torske T, Høyland AL, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen OA. Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample. Int J Mol Sci 2017; 18:E1078. [PMID: 28524073 PMCID: PMC5454987 DOI: 10.3390/ijms18051078] [Citation(s) in RCA: 26] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2017] [Revised: 05/12/2017] [Accepted: 05/13/2017] [Indexed: 02/06/2023] Open
Abstract
Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT (p-values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child's development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.
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Affiliation(s)
- Jarle Johannessen
- NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway.
- Autism Society Norway, Oslo 0609, Norway.
| | - Terje Nærland
- NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway.
- NevSom, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo 0424, Norway.
| | - Sigrun Hope
- NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway.
- Department of Neurohabilitation, Oslo University Hospital, Oslo 0424, Norway.
| | - Tonje Torske
- Division of Mental Health and Addiction, Vestre Viken Hospital Trust, Drammen 3004, Norway.
| | - Anne Lise Høyland
- Regional Centre for Child and Youth Mental Health and Child Welfare, Department of Mental Health, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim 7491, Norway.
- Department of Pediatrics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway.
| | - Jana Strohmaier
- Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim 68159, Germany.
| | - Arvid Heiberg
- Department of Medical Genetics, Oslo University Hospital, Oslo 0424, Norway.
| | - Marcella Rietschel
- Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim 68159, Germany.
| | - Srdjan Djurovic
- NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway.
- Department of Medical Genetics, Oslo University Hospital, Oslo 0424, Norway.
- Department of Clinical Science, University of Bergen, Bergen 5021, Norway.
| | - Ole A Andreassen
- NORMENT, KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo 0424, Norway.
- Division of Mental Health and Addiction, Oslo University Hospital, Oslo 0315, Norway.
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35
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Zuckerman KE, Lindly OJ, Sinche B. Parent Beliefs About the Causes of Learning and Developmental Problems Among Children With Autism Spectrum Disorder: Results From a National Survey. AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES 2016; 121:432-47. [PMID: 27611353 PMCID: PMC5575795 DOI: 10.1352/1944-7558-121.5.432] [Citation(s) in RCA: 19] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/15/2023]
Abstract
This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents believed in exposure causes. Forty present of parents had no definite causal beliefs. On multivariate analysis, parents who were non-White, publicly insured or poor were more likely than other parents to endorse exposure causes, or less likely to endorse genetic causes, compared to other parents. Further research should assess how these beliefs modify health care quality or services use.
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Affiliation(s)
- Katharine E Zuckerman
- Katharine E. Zuckerman, Divison of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University; Olivia J. Lindly, Oregon State University, College of Public Health and Human Sciences; and Brianna Sinche, Division of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University
| | - Olivia J Lindly
- Katharine E. Zuckerman, Divison of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University; Olivia J. Lindly, Oregon State University, College of Public Health and Human Sciences; and Brianna Sinche, Division of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University
| | - Brianna Sinche
- Katharine E. Zuckerman, Divison of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University; Olivia J. Lindly, Oregon State University, College of Public Health and Human Sciences; and Brianna Sinche, Division of General Pediatrics, Doernbecher Children's Hospital and Oregon Health & Science University
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36
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Simonstein F, Mashiach-Eizenberg M. Attitudes Toward Autism Spectrum Disorders Among Students of Allied Health Professions. J Genet Couns 2016; 25:1276-1285. [DOI: 10.1007/s10897-016-9969-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/12/2015] [Accepted: 05/10/2016] [Indexed: 11/30/2022]
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Reiff M, Giarelli E, Bernhardt BA, Easley E, Spinner NB, Sankar PL, Mulchandani S. Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. J Autism Dev Disord 2016; 45:3262-75. [PMID: 26066358 DOI: 10.1007/s10803-015-2489-3] [Citation(s) in RCA: 63] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
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Affiliation(s)
- Marian Reiff
- Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA.
| | - Ellen Giarelli
- College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA
| | - Barbara A Bernhardt
- Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA
| | - Ebony Easley
- Mixed Methods Research Lab, University of Pennsylvania, Philadelphia, PA, USA
| | - Nancy B Spinner
- Division of Genomic Diagnostics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.,Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
| | - Pamela L Sankar
- Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA, USA
| | - Surabhi Mulchandani
- Division of Genomic Diagnostics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA
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Ziats MN, Rennert OM. The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. Front Genet 2016; 7:65. [PMID: 27200076 PMCID: PMC4844926 DOI: 10.3389/fgene.2016.00065] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/02/2016] [Accepted: 04/08/2016] [Indexed: 11/24/2022] Open
Abstract
The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome.
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Affiliation(s)
- Mark N. Ziats
- Laboratory of Clinical and Developmental Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
- Department of Physiology, Development and Neuroscience, University of CambridgeCambridgeshire, UK
- Medical Scientist Training Program, Baylor College of MedicineHouston, TX, USA
| | - Owen M. Rennert
- Laboratory of Clinical and Developmental Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
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Goin-Kochel RP, Mire SS, Dempsey AG, Fein RH, Guffey D, Minard CG, Cunningham RM, Sahni LC, Boom JA. Parental report of vaccine receipt in children with autism spectrum disorder: Do rates differ by pattern of ASD onset? Vaccine 2016; 34:1335-42. [DOI: 10.1016/j.vaccine.2016.02.008] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2015] [Revised: 01/14/2016] [Accepted: 02/01/2016] [Indexed: 01/08/2023]
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40
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Goin-Kochel RP, Mire SS, Dempsey AG. Emergence of autism spectrum disorder in children from simplex families: relations to parental perceptions of etiology. J Autism Dev Disord 2015; 45:1451-63. [PMID: 25398603 DOI: 10.1007/s10803-014-2310-8] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
Abstract
Current research describes a four-category scheme of Autism Spectrum Disorder (ASD) onset: early, regressive, plateau, delay + regression. To replicate prevalence of different onset types, ASD onset (per the Autism Diagnostic Interview--Revised) was examined in a large North American sample; for a subset, parents' causal beliefs were ascertained via the Revised Illness Perception Questionnaire to examine potential associations with ASD-onset types. Onset rates were similar across samples, with a slightly higher proportion of children in the subsample categorized with regression. Top-rated causes of ASD were genetics, brain structure, will of God, toxins in vaccines, and environmental pollution. Parents reporting regression more often believed that toxins in vaccines caused ASD. Influences on treatment selection and broader public-health ramifications are discussed.
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Giarelli E, Reiff M. Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder. J SPEC PEDIATR NURS 2015; 20:244-58. [PMID: 26112659 DOI: 10.1111/jspn.12121] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/18/2015] [Revised: 05/06/2015] [Accepted: 05/11/2015] [Indexed: 01/08/2023]
Abstract
PURPOSE The aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD). DESIGN AND METHODS This is a descriptive qualitative study using thematic content analysis of in-depth interview with 48 mothers of children who had genetic testing for ASD. RESULTS The principal theme, "something is missing," included missing knowledge about genetics, information on use of the results, explanations of the relevance to the diagnosis, and relevance to life-long care. Two subordinate themes were (a) disappreciation of the helpfulness of scientific information to explain the diagnosis, and (b) returning to personal experience for interpretation. PRACTICE IMPLICATIONS The test "appreciated" in value when results could be linked to the phenotype.
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Affiliation(s)
- Ellen Giarelli
- College of Nursing and Health Professions, Doctoral Nursing Program, Drexel University
| | - Marian Reiff
- Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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43
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Ryan J, Virani A, Austin JC. Ethical issues associated with genetic counseling in the context of adolescent psychiatry. Appl Transl Genom 2015; 5:23-9. [PMID: 26937355 PMCID: PMC4745399 DOI: 10.1016/j.atg.2015.06.001] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/23/2015] [Revised: 06/04/2015] [Accepted: 06/05/2015] [Indexed: 01/19/2023]
Abstract
Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care.
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Affiliation(s)
- Jane Ryan
- Department of Psychiatry, University of British Columbia, Vancouver, Canada
| | - Alice Virani
- Department of Medical Genetics, University of British Columbia, Vancouver, Canada
- Centre for Applied Ethics, University of British Columbia, Vancouver, Canada
| | - Jehannine C. Austin
- Department of Psychiatry, University of British Columbia, Vancouver, Canada
- Department of Medical Genetics, University of British Columbia, Vancouver, Canada
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Fischbach RL, Harris MJ, Ballan MS, Fischbach GD, Link BG. Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder? AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2015; 20:353-63. [PMID: 26014839 DOI: 10.1177/1362361315585310] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022]
Abstract
There is no reported investigation comparing concordance in attitudes and beliefs about autism spectrum disorder between parents of children with autism spectrum disorder and scientists who research autism spectrum disorder. To investigate the level of concordance between these groups on causes of autism, priorities of research, perceived stigma, and disclosure of genetic test results, telephone interviews were conducted. Parents (n = 502) were recruited from the Simons Simplex Collection, and research scientists (n = 60) were recruited from investigators funded by the Simons Foundation. Response rates were notable (parents 91%, scientists 80%). Parents and scientists differed significantly regarding beliefs of the likely major cause of autism (p = 0.007) and priorities for further research (p < 0.001). Scientists believed in genetic causes while many parents believed in vaccines as the cause of autism. Parents (37%) were more likely to hesitate vaccinating their child (p < 0.001). In contrast, there was strong concordance regarding extent of perceived stigma (95% vs 92%) and preferences for disclosure of genetic test results, including incidental findings. While scientists believed communication important, paradoxically fewer than half reported it important for scientists to communicate directly with parents. Better communication between parents and scientists should improve mutual understanding and ultimately the health and well-being of children with autism spectrum disorder and their families.
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Affiliation(s)
- Ruth L Fischbach
- Columbia University College of Physicians and Surgeons, USA Columbia University Mailman School of Public Health, USA
| | - Mark J Harris
- Columbia University College of Physicians and Surgeons, USA
| | | | - Gerald D Fischbach
- Columbia University College of Physicians and Surgeons, USA Simons Foundation, USA
| | - Bruce G Link
- Columbia University Mailman School of Public Health, USA New York State Psychiatric Institute, USA
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Chen LS, Xu L, Dhar SU, Li M, Talwar D, Jung E. Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies. Clin Genet 2014; 88:122-8. [PMID: 25251361 DOI: 10.1111/cge.12504] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2014] [Revised: 09/15/2014] [Accepted: 09/17/2014] [Indexed: 12/25/2022]
Abstract
In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may inform parents about their unborn child's risk for ASD, prepare parents for the birth of an affected infant, and allow them to arrange for early interventions. Although PGT for autism has potential benefits, the associated ethical, legal, and social implications (ELSI) should be considered. This first qualitative study employed a hypothetical scenario to explore the attitudes toward PGT and termination decisions of 42 parents of children with ASD. Over half of the participants expressed willingness to undergo PGT for autism. Reasons included better preparation for birth, early and better treatment, termination of affected pregnancy, contribution to research, and curiosity. Of the 31 parents who were either willing or unsure about undergoing the PGT, approximately three-fourths would continue their hypothetical affected pregnancies. Explanations included preparation for birth of the child, bonding or acceptance of existing ASD-affected children, apprehensions about test limitations, and religious concerns. Parents who reported they would terminate the affected pregnancy in this hypothetical situation were primarily Asians. This study contributes to the growing understanding of the ELSI aspects of PGT in clinical practice.
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Affiliation(s)
- L S Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - L Xu
- Department of Health Education and Promotion, East Carolina University, Greenville, NC, USA
| | - S U Dhar
- Department of Health Education and Promotion, East Carolina University, Greenville, NC, USA
| | - M Li
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - D Talwar
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - E Jung
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA.,Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
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Chen LS, Li C, Wang CH, Amuta A, Li M, Huang TY, Dhar SU, Talwar D, Jung E. Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children. Clin Genet 2014; 88:129-34. [PMID: 25267333 DOI: 10.1111/cge.12514] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/21/2014] [Revised: 09/11/2014] [Accepted: 09/26/2014] [Indexed: 11/29/2022]
Abstract
In Taiwan, autism spectrum disorders (ASDs) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of ASD makes it increasingly important to examine how parents of children with ASD perceive the causes and recurrence risk of having another child with ASD. These perceptions may influence their family planning, attitudes toward genetic services, and willingness to take their children for ASD genetic testing. However, previous studies addressing this issue were conducted primarily in Western countries. As culture might shape an individual's views of genetic/genomic disorders, this first-of-its-kind study examined the perceptions of the genetic etiology for ASD and the recurrence risk among Taiwanese parents of children affected with ASD. In-depth, semi-structured interviews were conducted among 39 parents having at least one child with ASD. Although the majority of participants believed that ASD has a genetic link, less than half perceived genetic factors as the cause of their own child's ASD. Moreover, most participants articulated their recurrence risk incorrectly. Some parents were concerned about their doctors' limited genomic competencies. To provide parents with better education, counseling, and support for making reproductive decisions, ASD-related genomic education among Taiwanese physicians is needed.
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Affiliation(s)
- L S Chen
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - C Li
- Department of Foreign Languages, WeiFang Medical University, Shandong, China
| | - C H Wang
- Department of Special Education, National HsinChu University of Education, HsinChu, Taiwan
| | - A Amuta
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - M Li
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - T Y Huang
- Department of Special Education, National HsinChu University of Education, HsinChu, Taiwan
| | - S U Dhar
- Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA
| | - D Talwar
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
| | - E Jung
- Department of Health and Kinesiology, Texas A&M University, College Station, TX, USA
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Cuccaro ML, Czape K, Alessandri M, Lee J, Deppen AR, Bendik E, Dueker N, Nations L, Pericak-Vance M, Hahn S. Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). Am J Med Genet A 2014; 164A:2592-600. [DOI: 10.1002/ajmg.a.36698] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2013] [Accepted: 06/27/2014] [Indexed: 01/04/2023]
Affiliation(s)
- Michael L. Cuccaro
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Kayla Czape
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | | | - Joycelyn Lee
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Abigail Rupchock Deppen
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Elise Bendik
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Nicole Dueker
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Laura Nations
- Carolina Institute for Intellectual Disabilities; University of North Carolina School of Medicine; Chapel Hill North Carolina
| | - Margaret Pericak-Vance
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
| | - Susan Hahn
- Dr. John T. McDonald Department of Human Genetics; Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida
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Tordjman S, Somogyi E, Coulon N, Kermarrec S, Cohen D, Bronsard G, Bonnot O, Weismann-Arcache C, Botbol M, Lauth B, Ginchat V, Roubertoux P, Barburoth M, Kovess V, Geoffray MM, Xavier J. Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry 2014; 5:53. [PMID: 25136320 PMCID: PMC4120683 DOI: 10.3389/fpsyt.2014.00053] [Citation(s) in RCA: 165] [Impact Index Per Article: 15.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/16/2013] [Accepted: 05/02/2014] [Indexed: 01/03/2023] Open
Abstract
Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the genetic risk factors remain difficult to identify, with the exception of a few chromosomal disorders and several single gene disorders associated with an increased risk for autism. Furthermore, several studies suggest a role of environmental factors in autism spectrum disorders (ASD). First, arguments for a genetic contribution to autism, based on updated family and twin studies, are examined. Second, a review of possible prenatal, perinatal, and postnatal environmental risk factors for ASD are presented. Then, the hypotheses are discussed concerning the underlying mechanisms related to a role of environmental factors in the development of ASD in association with genetic factors. In particular, epigenetics as a candidate biological mechanism for gene × environment interactions is considered and the possible role of epigenetic mechanisms reported in genetic disorders associated with ASD is discussed. Furthermore, the example of in utero exposure to valproate provides a good illustration of epigenetic mechanisms involved in ASD and innovative therapeutic strategies. Epigenetic remodeling by environmental factors opens new perspectives for a better understanding, prevention, and early therapeutic intervention of ASD.
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Affiliation(s)
- Sylvie Tordjman
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
- Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Université de Rennes 1, Centre Hospitalier Guillaume Régnier, Rennes, France
| | - Eszter Somogyi
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
| | - Nathalie Coulon
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
| | - Solenn Kermarrec
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
- Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Université de Rennes 1, Centre Hospitalier Guillaume Régnier, Rennes, France
| | - David Cohen
- Department of Child and Adolescent Psychiatry, AP-HP, GH Pitié-Salpétrière, CNRS FRE 2987, University Pierre and Marie Curie, Paris, France
| | - Guillaume Bronsard
- Laboratoire de Santé Publique (EA3279), School of Medicine of La Timone, Marseille, France
| | - Olivier Bonnot
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
| | - Catherine Weismann-Arcache
- Laboratoire Psychologie et Neurosciences de la Cognition et de l’Affectivité, Université de Rouen, Mont Saint Aignan, France
| | - Michel Botbol
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
- Service Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Université de Bretagne Occidentale, CHU de Brest, Brest, France
| | - Bertrand Lauth
- Department of Child and Adolescent Psychiatry, Landspitali University Hospital, University of Iceland, Reykjavik, Iceland
| | - Vincent Ginchat
- Department of Child and Adolescent Psychiatry, AP-HP, GH Pitié-Salpétrière, CNRS FRE 2987, University Pierre and Marie Curie, Paris, France
| | - Pierre Roubertoux
- Laboratoire de Génétique Médicale, Génomique Fonctionnelle, INSERM U 910, Université d’Aix-Marseille 2, Marseille, France
| | - Marianne Barburoth
- Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS UMR 8158, Paris, France
| | - Viviane Kovess
- Department of Epidemiology and Biostatistics, EHESP School for Public Health, EA 4057 University Paris Descartes, Paris, France
| | - Marie-Maude Geoffray
- Service Universitaire de Psychiatrie de l’Enfant et de l’Adolescent Hospitalier Le Vinatier, Bron, France
| | - Jean Xavier
- Department of Child and Adolescent Psychiatry, AP-HP, GH Pitié-Salpétrière, CNRS FRE 2987, University Pierre and Marie Curie, Paris, France
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Amiet C, Couchon E, Carr K, Carayol J, Cohen D. Are there cultural differences in parental interest in early diagnosis and genetic risk assessment for autism spectrum disorder? Front Pediatr 2014; 2:32. [PMID: 24795872 PMCID: PMC4006049 DOI: 10.3389/fped.2014.00032] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/10/2013] [Accepted: 03/29/2014] [Indexed: 11/13/2022] Open
Abstract
BACKGROUND There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD. METHODS Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France). RESULTS The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10(-4)]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10(-12)). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism. CONCLUSION Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed.
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Affiliation(s)
- Claire Amiet
- IntegraGen , Evry , France ; Department of Child and Adolescent Psychiatry, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie , Paris , France
| | | | - Kelly Carr
- University of Notre Dame , South Bend, IN , USA
| | | | - David Cohen
- Department of Child and Adolescent Psychiatry, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie , Paris , France ; CNRS UMR 7222, Institut des Systèmes Intelligents et Robotiques, Université Pierre et Marie Curie , Paris , France
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Grønborg TK, Schendel DE, Parner ET. Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study. JAMA Pediatr 2013; 167:947-53. [PMID: 23959427 PMCID: PMC4610344 DOI: 10.1001/jamapediatrics.2013.2259] [Citation(s) in RCA: 133] [Impact Index Per Article: 11.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/14/2022]
Abstract
IMPORTANCE To date, this is the first population-based study to examine the recurrence risk for autism spectrum disorders (ASDs), including time trends, and the first study to consider the ASDs recurrence risk for full- and half-siblings. OBJECTIVES To estimate the relative recurrence risk for ASDs in a Danish population, including recurrence in full- and half-siblings, and to examine time trends in ASDs relative to the recurrence risk. DESIGN, SETTING, AND PARTICIPANTS Population-based cohort study in Denmark. All children (about 1.5 million) born in Denmark between January 1, 1980, and December 31, 2004, were identified and followed up to December 31, 2010. We identified a maternal sibling subcohort derived from mothers with at least 2 children and a paternal sibling subcohort derived from fathers with at least 2 children. EXPOSURES Children having an older sibling with ASDs are compared with children not having an older sibling with ASDs. MAIN OUTCOMES AND MEASURES The adjusted hazard ratio for ASDs among children having an older sibling with ASDs compared with children not having an older sibling with ASDs. RESULTS The overall relative recurrence risk for ASDs was 6.9 (95% CI, 6.1-7.8), and it did not change significantly over time; similar risks were observed in maternal and paternal full-siblings. The relative recurrence risks were 2.4 (95% CI, 1.4-4.1) for maternal half-siblings and 1.5 (95% CI, 0.7-3.4) for paternal half-siblings. CONCLUSIONS AND RELEVANCE Our population-based recurrence risk estimate is lower than the recently reported estimates from clinical samples. Our results demonstrate no time trend in the ASDs recurrence risk as seen in the ASDs prevalence. The difference in the recurrence risk between full- and half-siblings supports the role of genetics in ASDs, while the significant recurrence risk in maternal half-siblings may support the role of factors associated with pregnancy and the maternal intrauterine environment in ASDs.
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Affiliation(s)
- Therese K Grønborg
- Section of Biostatistics, Department of Public Health, Aarhus University, Aarhus, Denmark
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