AUTHOR=Naveed Hajer , McCormack Maria , Holder J. Lloyd 

TITLE=Social behavioral impairments in SYNGAP1-related intellectual disability

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 11 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1188117

DOI=10.3389/fped.2023.1188117

ISSN=2296-2360

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 developmental 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. Surprisingly, a positive correlation between age and total score was discovered for SYNGAP1-ID participants and not found in individuals with PMD or healthy controls. In conclusion, significant impairment in reciprocal social behaviors is highly prevalent in SYNGAP1-ID.