[article]
| 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 |
in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.276-285
|
Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families in Journal of Autism and Developmental Disorders, 51-1 (January 2021)
