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Strategies for Assessing Autistic-Like Behaviors in Mice

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Published on: September 20, 2024

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

Lindsey Kent¹, Sarah Bowdin, Gail A Kirby

¹Bute Medical School, University of St. Andrews, St. Andrews, Scotland, UK. lsk8@st-andrews.ac.uk

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics

|March 5, 2008

Summary

This study surveyed 87 children with Beckwith-Wiedemann syndrome (BWS), finding significant emotional and behavioral difficulties. Some BWS children were diagnosed with autistic spectrum disorder (ASD), suggesting a link between the 11p15.5 gene cluster and ASD.

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Area of Science:

Genetics
Neurodevelopmental Disorders
Pediatrics

Background:

Imprinted genes play a role in neurodevelopment, with defects seen in Prader-Willi and Angelman syndromes.
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder known for overgrowth and developmental anomalies.
Neurodevelopmental aspects of BWS have not been extensively studied.

Purpose of the Study:

To investigate the neurobehavioral phenotypes in children with Beckwith-Wiedemann syndrome.
To assess the prevalence of emotional, behavioral, and autistic spectrum disorder (ASD) in BWS.
To explore potential genetic links between the 11p15.5 imprinted gene cluster and ASD in BWS.

Main Methods:

A questionnaire-based neurobehavioral survey was administered to 87 children diagnosed with BWS.
Participants' emotional and behavioral difficulties were assessed using standardized measures.
Diagnoses of autistic spectrum disorder (ASD) were recorded and analyzed in relation to genetic findings.

Main Results:

A higher-than-expected proportion of children with BWS exhibited abnormal emotional and behavioral scores.
Autistic spectrum disorder (ASD) was diagnosed in 6.8% of the surveyed BWS children.
ASD occurred in BWS children with normal chromosomes, UPD, and imprinting center 2 defects, indicating complex genetic associations.

Conclusions:

The study highlights a significant prevalence of neurobehavioral difficulties, including ASD, in children with BWS.
Findings suggest a potential role for the 11p15.5 imprinted gene cluster in the etiology of ASD.
Further research is warranted to elucidate the neurobehavioral phenotypes associated with BWS and its genetic underpinnings.