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Published on: October 20, 2023

Angelman Syndrome: Multidisciplinary Management.

Whitney A Bridges¹, Heide S Temples², Tracy B Lowe³

¹Whitney Bridges, Graduate Student, Clemson University, Clemson, SC; Whitney Bridges, Staff Nurse at The Wonder Center, Greenville, SC.

Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners

|July 11, 2025

Summary

This summary is machine-generated.

Angelman syndrome is a rare genetic disorder caused by the loss of the maternal UBE3A gene. Early identification and multidisciplinary care are crucial for managing developmental delays and improving outcomes for affected infants.

Keywords:

Angelman Syndrome UBE3A gene neurodevelopmental disorder

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Area of Science:

Genetics
Developmental Pediatrics
Rare Diseases

Background:

Angelman syndrome is a rare genetic disorder characterized by genomic imprinting and the loss of the maternal UBE3A gene.
It presents with diverse phenotypes, including significant developmental delays.
Current management focuses on supportive and symptomatic treatment due to the absence of a cure.

Purpose of the Study:

To review the clinical presentation of Angelman syndrome for early infant identification.
To outline diagnostic criteria and management strategies.
To discuss family resources, primary care implications, and future therapeutic avenues.

Main Methods:

Case presentation of a nine-month-old diagnosed with Angelman syndrome.
Review of clinical manifestations, diagnostic criteria, and treatment approaches.
Exploration of multidisciplinary care requirements and emerging therapies.

Main Results:

The case highlights the importance of recognizing developmental delays for early diagnosis.
Genetic testing confirmed Angelman syndrome.
A multidisciplinary approach is essential for comprehensive patient care.

Conclusions:

Early identification of Angelman syndrome in infants is critical for timely intervention.
A coordinated, multidisciplinary approach is necessary for optimal management.
Ongoing research into future therapies offers hope for improved outcomes.