Angelman Syndrome Neurocognitive and Linguistic Profile, Overlaps, Interventions, and Quality of Life

Document Type

Book Chapter

Source of Publication

Clinical Applications of Pediatric Neuropsychology from Infancy to Adolescence

Publication Date

1-1-2025

Abstract

Angelman Syndrome (AS) is a rare neurogenetic disorder caused by a mutation or deletion of the UBE3A gene on chromosome 15, affecting the brain's development and function. Neurocognitively, individuals with AS often exhibit significant developmental delays, with limited cognitive abilities, impaired motor coordination (ataxia), and epilepsy being common. While cognitive impairment is a hallmark of the syndrome, memory and problem- solving abilities are also significantly affected. Linguistically, AS is characterized by profound speech impairments, with most individuals developing little to no functional speech. Early diagnosis, often through genetic testing, is crucial for the implementation of early intervention programs that focus on speech therapy, physical therapy, and behavioral management. Specialized interventions that address motor deficits, language development, and behavioral concerns can enhance cognitive and social functioning, although the overall prognosis remains one of lifelong disability.

ISBN

[9798369396896, 9798369396919]

First Page

143

Last Page

155

Disciplines

Education | Medicine and Health Sciences

Keywords

Angelman Syndrome, neurocognitive profile, linguistic profile, interventions, quality of life

Scopus ID

05004502267

Indexed in Scopus

yes

Open Access

no

Link to Full Text

Share

COinS