A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

ABSTRACT:

Background

Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of

SUBMITTER: Duis J 

PROVIDER: S-EPMC8922964 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature