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Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual

Damien Wright1, Aisling Kenny2, Lindsay A M Mizen2

  • 1Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh, EH10 5HF, Edinburgh, UK. damien.wright@ed.ac.uk.

Journal of Autism and Developmental Disorders
|December 6, 2023
PubMed

Insights

Children with SYNGAP1-related intellectual disability (ID) show significant autistic and attention deficit hyperactivity disorder (ADHD) traits. These findings help characterize the behavioral phenotype for better diagnosis and intervention.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Behavioral Phenotyping

Background:

  • SYNGAP1-related intellectual disability (ID) is a genetic disorder causing global developmental delay and epilepsy.
  • Individuals often exhibit attention and social communication differences, frequently co-occurring with Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD).

Purpose of the Study:

  • To quantify Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) symptoms in children with SYNGAP1-related ID.
  • To further characterize the behavioral phenotype associated with SYNGAP1-related ID.

Main Methods:

  • Parents/caregivers of children with SYNGAP1-related ID (N=34) and typically developing controls (N=21) completed the Social Responsiveness Scale-2 (SRS) and Social Communication Questionnaire (SCQ).
  • A subset also completed the Conners-3 to assess ADHD symptoms.
  • Hierarchical clustering analysis was used to identify subgroups based on ASD and ADHD traits.

Main Results:

  • Children with SYNGAP1-related ID exhibited higher autistic traits on SRS and SCQ compared to controls.
  • On the SRS, restricted repetitive behaviors were most pronounced, while social awareness was least impaired.
  • On the Conners-3, significant ADHD traits were observed, including peer relation difficulties, but low prevalence of conduct and oppositional defiant disorders.

Conclusions:

  • SYNGAP1-related ID is associated with a distinct behavioral phenotype including significant ASD and ADHD traits.
  • Distinct subgroups within SYNGAP1-related ID exist for ASD and ADHD traits.
  • Findings support improved diagnosis, assessment, and intervention strategies for SYNGAP1-related ID.

Keywords:
ADHDAutismIntellectual disabilitiesSYNGAP1-related intellectual disability

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