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Related Experiment Video

Updated: Jan 20, 2026

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Published on: October 20, 2023

Language, neurodevelopment, and behavior in Angelman syndrome: a case report.

Ana Teresa Hernandes Teodoro¹, Daphyne Yachel Chaves¹, Patrícia Abreu Pinheiro Crenitte¹

¹Programa de Pós-graduação em Fonoaudiologia, Faculdade de Odontologia de Bauru - FOB - Bauru (SP), Brasil.

|August 29, 2019

Summary

This case study shows a girl with Angelman Syndrome (AS) had severe language and neurodevelopmental delays at ages three and eight. Limited progress occurred despite significant therapeutic efforts.

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Area of Science:

Neurodevelopmental disorders
Genetics and rare diseases
Pediatric language pathology

Background:

Angelman Syndrome (AS) is a rare genetic disorder affecting neurodevelopment.
Early and comprehensive assessment is crucial for understanding AS.
This study focuses on a single case to detail AS progression.

Observation:

Phenotypic features of AS, including characteristic facial traits and sialorrhea, were observed.
The subject exhibited severe expressive and receptive language deficits, with limited oral communication and comprehension.
Developmental assessments revealed profound impairment across all domains.

Findings:

Language and developmental assessments at ages three and eight showed minimal improvement.
Severe deficits in communication, motor skills, and cognitive function persisted.
Despite intensive interventions, progress was notably limited.

Implications:

The findings highlight the complex clinical needs associated with Angelman Syndrome.
A scarcity of effective therapeutic resources can exacerbate the impact of AS.
Improving quality of life for individuals with AS requires enhanced support and interventions.