Rare variants in the outcome of social skills group training for autism / Danyang LI in Autism Research, 15-3 (March 2022)  

Public ISBD [article]  inAutism Research > 15-3 (March 2022) . - p.434-446 Titre : Rare variants in the outcome of social skills group training for autism Type de document : Texte imprimé et/ou numérique Auteurs : Danyang LI, Auteur ; Nora CHOQUE OLSSON, Auteur ; Martin BECKER, Auteur ; Abishek ARORA, Auteur ; Hong JIAO, Auteur ; Nina NORGREN, Auteur ; Ulf JONSSON, Auteur ; Sven BÖLTE, Auteur ; Kristiina TAMMIMIES, Auteur Article en page(s) : p.434-446 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (? = 9.35; p = 0.036), while no such association was observed for SSGT (? = ?2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (? = 8.30, p = 0.0044) or more beneficial (? = ?6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD. En ligne : https://doi.org/10.1002/aur.2666 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Rare variants in the outcome of social skills group training for autism [Texte imprimé et/ou numérique] / Danyang LI, Auteur ; Nora CHOQUE OLSSON, Auteur ; Martin BECKER, Auteur ; Abishek ARORA, Auteur ; Hong JIAO, Auteur ; Nina NORGREN, Auteur ; Ulf JONSSON, Auteur ; Sven BÖLTE, Auteur ; Kristiina TAMMIMIES, Auteur . - p.434-446. Langues : Anglais (eng) in Autism Research > 15-3 (March 2022) . - p.434-446 Index. décimale : PER Périodiques Résumé : Abstract Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (? = 9.35; p = 0.036), while no such association was observed for SSGT (? = ?2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (? = 8.30, p = 0.0044) or more beneficial (? = ?6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD. En ligne : https://doi.org/10.1002/aur.2666 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

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