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The Behavioral Profile of SYNGAP1-Related Intellectual Disability.

Damien Wright1, Aisling Kenny1, Lindsay A M Mizen1

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Individuals with SYNGAP1-ID exhibit fewer adaptive behaviors and more behavioral challenges. These differences are more pronounced in older children and those with epilepsy, guiding future interventions.

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Area of Science:

  • Neurodevelopmental Disorders
  • Behavioral Genetics
  • Clinical Psychology

Background:

  • SynGAP1 (Ras/Rap GTPase-activating protein 1) is crucial for synaptic plasticity and cognitive function.
  • Mutations in SYNGAP1 are a leading genetic cause of intellectual disability (SYNGAP1-ID).
  • The behavioral phenotype associated with SYNGAP1-ID requires further detailed characterization.

Purpose of the Study:

  • To delineate the behavioral profile of individuals diagnosed with SYNGAP1-ID.
  • To compare adaptive and behavioral functioning in SYNGAP1-ID against typically developing peers.
  • To identify potential factors influencing behavioral outcomes in SYNGAP1-ID.

Main Methods:

  • Utilized the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist.
  • Collected data from parents/carers of 30 individuals with SYNGAP1-ID (aged 3-18).
  • Included a control group of 21 typically developing individuals matched for age.

Main Results:

  • Individuals with SYNGAP1-ID demonstrated significantly lower adaptive behavior scores across domains.
  • Elevated internalizing and externalizing behavior problems were observed in the SYNGAP1-ID group.
  • Behavioral differences were more pronounced in older children and those with co-occurring epilepsy.

Conclusions:

  • SYNGAP1-ID is associated with a distinct behavioral phenotype characterized by impaired adaptive functioning and increased behavioral issues.
  • Age and epilepsy comorbidity appear to exacerbate the behavioral challenges in SYNGAP1-ID.
  • Findings support the need for targeted behavioral interventions and support strategies for individuals with SYNGAP1-ID.