Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families / Sonja LABIANCA in Journal of Autism and Developmental Disorders, 51-1 (January 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.276-285 Titre : Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families Type de document : Texte imprimé et/ou numérique Auteurs : Sonja LABIANCA, Auteur ; Jette LABIANCA, Auteur ; Anne Katrine PAGSBERG, Auteur ; Klaus Damgaard JAKOBSEN, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Thomas WERGE, Auteur Article en page(s) : p.276-285 Langues : Anglais (eng) Mots-clés : Attention deficit/hyperactivity disorder  Autism spectrum disorder  Comorbidity  Copy number variants  Families  Polygenic risk score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two. En ligne : http://dx.doi.org/10.1007/s10803-020-04552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437 [article] Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families [Texte imprimé et/ou numérique] / Sonja LABIANCA, Auteur ; Jette LABIANCA, Auteur ; Anne Katrine PAGSBERG, Auteur ; Klaus Damgaard JAKOBSEN, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Thomas WERGE, Auteur . - p.276-285. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.276-285 Mots-clés : Attention deficit/hyperactivity disorder  Autism spectrum disorder  Comorbidity  Copy number variants  Families  Polygenic risk score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two. En ligne : http://dx.doi.org/10.1007/s10803-020-04552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437

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