Social Behavioral Impairments in SYNGAP1-Related Intellectual Disability

Abstract

Synaptopathies are neurodevelopmental disorders caused by genetic mutations disrupting the development and function of neuronal synapses. We administered the validated Social Responsiveness Scale, Second Edition (SRS-2) to investigate the phenotypic presentation of social-behavioral impairments for the synaptopathy: SYNGAP1-related Intellectual Disability (SYNGAP1-ID) (n=32) compared with a phenotypically similar disorder Phelan-McDermid Syndrome (PMD) (n=27) and healthy controls (n=43). A short form SRS-2 analysis (n=85) was also conducted. Both SYNGAP1-ID and PMD had significantly elevated total and subcategory T-scores, with no significant score differences between SYNGAP1-ID and PMD, consistent between the full and short form. Mild to severe deficiencies in reciprocal social behavior were found in 100% of PMD individuals and 87.1% of SYNGAP1-ID individuals. Additionally, the short form demonstrated greater utility for SYNGAP1-ID participants due to lower item-omission rates. In conclusion, significant impairment in reciprocal social behaviors is highly prevalent in SYNGAP1-ID.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This study was funded by the SYNGAP1 Foundation and the Robbins Foundation.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The IRB of Baylor College of Medicine gave ethical approval for this work.

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Data Availability

All data produced in the present study are available upon reasonable request to the authors

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