Dataset Information

The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability.

ABSTRACT: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD?-?ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies.

SUBMITTER: Xie S

PROVIDER: S-EPMC7821228 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability.

Xie Sherlly S Karlsson Håkan H Dalman Christina C Widman Linnea L Rai Dheeraj D Gardner Renee M RM Magnusson Cecilia C Sandin Sven S Tabb Loni P LP Newschaffer Craig J CJ Lee Brian K BK

Autism research : official journal of the International Society for Autism Research 20201026 12

Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Swed ...[more]

PMID: 33103358

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Project description:IntroductionInsomnia affects up to 80% of children with autism spectrum disorder (ASD). Negative consequences of insomnia in ASD include decreased quality of life (QOL), impaired learning and cognition, increased stereotypic and challenging behaviours, and increased parental stress. Cognitive behavioural treatment for childhood insomnia (CBT-CI) is a promising treatment for dealing with insomnia and its negative consequences but has not yet been studied in school-aged children with ASD and comorbid insomnia. Access to healthcare is another challenge for children with ASD, particularly in rural and underserved regions. Previous studies indicate that ASD and insomnia share common arousal-based underpinnings, and we hypothesise that CBT-CI will reduce the hyperarousal associated with insomnia and ASD. This trial will be the first to examine CBT-CI adapted for children with ASD and will provide new information about two different modes of delivery across a variety of primary and secondary child and parent sleep and related outcomes. Knowledge obtained from this trial might allow us to develop new or modify current treatments to better target childhood insomnia and ASD.Methods and analysisChildren (N=180) 6-12 years of age with ASD and insomnia will be recruited from an established autism database, a paediatric clinic and community outreach in the Columbia, MO and surrounding areas. Participants will be randomised to CBT-CI adapted for children with ASD (in-person or remote using computers with cameras) or Sleep Hygiene and Related Education. Participants will be assessed at baseline, post-treatment, 6-month and 12-month follow-ups. The following assessments will be completed regarding the children: objective and subjective sleep, daytime functioning (adaptive functioning, attention, challenging behaviours, anxiety), QOL and physiological arousal (heart rate variability) and parents: objective and subjective sleep, daytime functioning (anxiety, depression, fatigue), QOL, physiological arousal and parental burden/stress.Ethics and disseminationEthics approval was obtained in January 2020 from the University of Missouri. Ethics approval was obtained in July 2020 from the US Army Medical Research and Development Command, Office of Research Protections and Human Research Protection Office. All data are expected to be collected by 2024. Full trial results are planned to be published by 2025. Secondary analyses of baseline data will be subsequently published.Trial registration numberNCT04545606; Pre-results.

Project description:PurposeTo explore, from the perspective of Study Partners (SPs; eg, caregivers) of clinical trial participants with autism spectrum disorder (ASD), any changes experienced in socialization and communication over the clinical trial, how these changes manifested, and the impact these changes had on the autistic individual, the SP, and family. This helps interpret whether changes in trial outcomes were meaningful.Patients and methodsInterviews were conducted with the SPs of individuals with ASD, without intellectual disability, from 2 clinical trials: 86 children (aged 5-12 years) or adolescents (aged 13-17 years) who took part in the aV1ation trial (83.7% male), and 41 adults (aged 18+ years) who took part in the V1aduct trial (80.5% male). The primary endpoint for both trials was change from baseline in the VinelandTM-II two-domain composite, consisting of the mean of the Socialization and Communication domains. In these interviews the participants verbally indicated level of change for each of these key domains on 7-point change scales.ResultsImprovements in the Socialization domain enabled greater awareness of the feelings of others and allowed for stronger empathy and kindness. Improvements in the Communication domain allowed for the autistic individual to be better at listening and better at self-expression. Together, changes in these two domains, which were considered most important, allowed for richer, deeper relationships. Study Partners noted that improvements in these domains allowed for better integration within the family unit, decreased stress, and increased optimism about the autistic individual's future.ConclusionsThe impacts of changes in either domain were synergistic, combining together to create positive experiences which in turn led to further positive impacts in other skills. These qualitative insights provide context to the changes that were observed during the clinical trial and captured using the VinelandTM-II, illustrating the meaning of these changes to the individuals with ASD without intellectual disability and their families, and the impact that they have on people's everyday lives and overall health-related quality of life.

Dataset Information

The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability.

Publications

The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability.

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