Parental Social Responsiveness and Risk of Autism Spectrum Disorder in Offspring

Abstract

IMPORTANCE Although autism spectrum disorder (ASD) is known to be heritable, patterns of inheritance of subclinical autistic traits in nonclinical samples are poorly understood.OBJECTIVE To examine the familiality of Social Responsiveness Scale (SRS) scores of individuals with and without ASD.

Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type I

“…An SRS-2 intraclass correlation of 0.77 was observed for 18 available pairings of first-degree relatives with NF1, substantially higher than correlations on the order of 0.30 typically observed for first degree relatives in ASD clinical family samples 11,27 and in the general population. 19 Table III provides a listing of the respective ages and relationships between family members in this subanalysis, and a scatter plot of the family data is provided in Figure 2 , with individual points labeled and keyed to Table III .…”

“…Other than case reports, 8,9 there are no known associations between specific NF1 genotypes and autistic syndromes, and there are no published studies in which both genotype and autistic impairment in NF1 have been characterized simultaneously. Demonstration of within-family association, if more pronounced than can be attributed to genetic background, 10,11 would imply mutational specificity in the occurrence of autism spectrum disorder (ASD) symptoms. In this study, we capitalized upon the availability of assessments in pairings of first-degree relatives to explore this question.…”

Brief Report: Prevalence of Co-occurring Epilepsy and Autism Spectrum Disorder: The U.S. National Survey of Children’s Health 2011–2012

“…Although parent report for ASD diagnosis can be misleading, studies have shown the validity of standard questionnaires in the diagnosis of ASD in children. For example, comparison of maternal report of ASD and ASD diagnosis via ADI-R in the Nurses' Health Study II showed high agreement (Lyall et al 2014). …”

Advancing parental age and autism: multifactorial pathways

“…In general, the existing large population-based studies of ASD have focused on evaluation of child phenotype, with less emphasis on parent phenotype. However, a recent cohort study found that offspring of two parents with concordantly elevated scores (indicating higher autistic traits) on the Social Responsiveness Scale (SRS) had nearly twice the risk of ASD, as well as elevated SRS scores themselves [94]. Similarly, another study administering the Broad Autism Phenotype (BAP) Questionnaire found that children with ASD were more likely to have parents with BAP characteristics [67].…”