Abstract
Challenges in social communication and interaction are core features of autism spectrum disorder (ASD) for which social skills group training (SSGT) is a commonly used intervention. SSGT has shown modest and heterogeneous effects. One of the major genetic risk factors in ASD is rare copy number variation (CNV). However, limited information exists whether CNV profiles could be used to aid intervention decisions. Here, we analyzed the rare genic CNV carrier status for 207 children, of which 105 received SSGT and 102 standard care as part of a randomized clinical trial for SSGT. We found that being a carrier of rare genic CNV did not have an impact on the SSGT outcome measured by the parent-report Social Responsiveness Scale (SRS). However, when stratifying by pathogenicity and size of the CNVs, we identified that carriers of clinically significant and large genic CNVs (>500 kb) showed inferior SRS outcomes at post-intervention (P = 0.047 and P = 0.036, respectively) and follow-up (P = 0.008 and P = 0.072, respectively) when adjusting for standard care effects. Our study provides preliminary evidence that carriers of clinically significant and large genic CNVs might not benefit as much from SSGT as non-carriers. Our results indicate that genetic information might help guide the modifications of interventions in ASD.
Highlights
Www.nature.com/scientificreports standard care plus skills group training (SSGT) to standard care alone
Data from the 12-week multicenter, randomized pragmatic clinical trial of the Swedish version of SSGT “KONTAKT”21 and genetic screening were used for this study
Demographics and clinical characteristics of the participants included in this study are presented in Table 1, stratified by intervention group
Summary
Www.nature.com/scientificreports standard care plus SSGT to standard care alone. The standard care consisted of any ongoing support or intervention provided by regular health care services (e.g., child and adolescent psychiatry, (neuro-)pediatrics, habilitation centers, speech, and language pathology services). In addition to providing information about the genetic causes and recurrence risks for family members, CMA has been reported to result in individual medical intervention recommendations such as referral to specialists, medical follow-up and more detailed genetic investigations within the family[19,20]. An unanswered question of high relevance for intervention planning in clinical practice is whether CMA results can guide the selection and prioritization of interventions in ASD at an individual or subgroup level. To address this question, we hypothesized that rare genic CNVs would have a potential moderating effect on the outcome following 12–weeks of SSGT KONTAKT. Our focus was especially on the rare genic CNVs, including chromosomal aneuploidies stratified further by clinical significance and size, to align our study with the current clinical recommendations of CMA evaluation in ASD
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