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Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.

ABSTRACT: Savant syndrome is a phenomenon whereby individuals with cognitive impairments have one or more outstanding abilities, inconsistent with their general intellectual functioning. Approximately 50% of savant individuals have autism spectrum disorder (ASD), and 10-30% of people with ASD have savant skills. To shed additional light on this considerable overlap, we compared autistic traits as measured by the Social-Responsiveness-Scale (SRS) between 712 children with at least one reported savant skill, as determined by designated questions from the ADI-R questionnaire (savant group), and 2,032 non-savant children from the Simons-Simplex-Collection (SSC) database. We also examined SRS scores of the parents of these children and compared parent-child differences in SRS scores between the savant and non-savant groups. Savant children had significantly lower SRS scores (less deficiencies) compared to non-savant children (P?

SUBMITTER: Daniel E

PROVIDER: S-EPMC7010762 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.

Daniel Edan E Menashe Idan I

Scientific reports 20200210 1

Savant syndrome is a phenomenon whereby individuals with cognitive impairments have one or more outstanding abilities, inconsistent with their general intellectual functioning. Approximately 50% of savant individuals have autism spectrum disorder (ASD), and 10-30% of people with ASD have savant skills. To shed additional light on this considerable overlap, we compared autistic traits as measured by the Social-Responsiveness-Scale (SRS) between 712 children with at least one reported savant skill ...[more]

PMID: 32042040

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Project description:The Social Responsiveness Scale (SRS) has been validated in high-income countries but not yet in low- and middle-income countries. We aimed to assess the reliability of the SRS in a community sample and its validity to discriminate between children with and without autism spectrum disorder (ASD) in Vietnam. We used a three-phase study: piloting the translated SRS, reliability testing, and validation of the SRS in 158 Vietnamese caretakers and their children (ages 4-9 years). We examined reliability, validity and sensitivity, and specificity to ASD diagnosis. We applied receiver operator characteristic (ROC) analysis to determine optimal cutoff scores discriminating the children with ASD from those without ASD. We also assessed the performance of the SRS short form. We found that reliability was good with high internal consistency (0.88-0.89), test-retest reliability (0.82-0.83), sensitivity (93%), and specificity (98%) for identification of children with ASD. The ROC curves were similar for total raw score and total T-score, with the area under the curve (AUC) values reaching 0.98 and the optimal cutoff of 62 for raw scores and 60 for T-scores. The SRS short form also performed well in distinguishing children with ASD from children without ASD, with high AUC (0.98), sensitivity (90%), and specificity (98%) when using a raw score of 15 as a cutoff. In conclusion, the translated and culturally adapted SRS shows good reliability, validity, and sensitivity for identification of children with ASD in Vietnam. Both SRS long and short forms performed adequately to discriminate between children with and without ASD. Autism Res 2019, 00: 1-13. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Middle-income countries often lack validated tools to evaluate autism symptoms. The Social Responsiveness Scale (SRS) translated to Vietnamese was reliable and performed well to distinguish between children with and without autism spectrum disorder in Vietnam. The Vietnamese SRS, and translations of the tool to other languages with this methodology, may be useful in pediatric practice, potentially allowing providers to make more appropriate referrals for diagnostic evaluations and identify children for intervention to help them fulfill their developmental potential.

Project description:Although autism spectrum disorder (ASD) is known to be heritable, patterns of inheritance of subclinical autistic traits in nonclinical samples are poorly understood.To examine the familiality of Social Responsiveness Scale (SRS) scores of individuals with and without ASD.We performed a nested case-control study (pilot study: July 1, 2007, through June 30, 2009; full-scale study: September 15, 2008, through September 14, 2012) within a population-based longitudinal cohort. Participants were drawn from the Nurses' Health Study II, a cohort of 116,430 female nurses recruited in 1989. Case participants were index children with reported ASD; control participants were frequency matched by year of birth of case participants among those not reporting ASD. Of 3161 eligible participants, 2144 nurses (67.8%) returned SRS forms for a child and at least 1 parent and were included in these analyses.The SRS scores, as reported by nurse mothers and their spouses, were examined in association with risk of ASD using crude and adjusted logistic regression analyses. The SRS scores of the children were examined in association with SRS scores of the parents using crude and adjusted linear regression analyses stratified by case status.Autism spectrum disorder, assessed by maternal report, validated in a subgroup with the Autism Diagnostic Interview-Revised.A total of 1649 individuals were included in these analyses, including 256 ASD case participants, 1393 control participants, 1233 mothers, and 1614 fathers. Risk of ASD was increased by 85.0% among children whose parents had concordantly elevated SRS scores (odds ratio [OR],?1.85; 95% CI, 1.08-3.16) and by 52.0% when the score of either parent was elevated (OR, 1.52; 95% CI, 1.11-2.06). Elevated scores of the father significantly increased the risk of ASD in the child (OR,?1.94; 95% CI, 1.38-2.71), but no association was seen with elevated scores of the mother. Elevated parent scores significantly increased child scores in controls, corresponding to an increase in 23 points (P?<?.001).These findings support the role of additive genetic influences in concentrating inherited ASD susceptibility in successive generations and the potential role of preferential mating, and suggest that typical variation in parental social functioning can produce clinically significant differences in offspring social traits.

Dataset Information

Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.

Publications

Exploring the familial role of social responsiveness differences between savant and non-savant children with autism.

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