Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.

Anjali SadhwaniJ M WillenH MillerR Barbieri-WelgeL T HorowitzL M NollS PetersR HundleyL M BirdWen-Hann Tan

Published in: Journal of intellectual disability research : JIDR (2019)

The presence of an older sibling with the same neurodevelopmental disorder is associated with an earlier age of diagnosis and may be associated with an improvement in expressive language skills; the developmental outcome of siblings with AS due to a UBE3A mutation is otherwise comparable.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
physical activity
community dwelling
middle aged
congenital heart disease
case report