Developmental milestones and daily living skills in individuals with Angelman syndrome.

ABSTRACT:

Background

Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants.

Methods

Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard mo

SUBMITTER: Sadhwani A 

PROVIDER: S-EPMC11179294 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature