For a study, researchers sought to understand that SYNGAP1-related intellectual disability (ID) is a new neurodevelopmental disorder caused by a pathogenic variant in the SYNGAP1 gene. The prevalence of existing diagnoses in the case series has primarily highlighted the behavioral characteristics of the disorder. Therefore, investigators set out to describe the behavioral features of the disorder by conducting interviews with parents of children with SYNGAP1-related ID. They conducted 27 semi-structured interviews with parents and caregivers, covering basic information (such as age and gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioral history, and a general description of their child’s behavior. Using a mixed quantitative and qualitative approach, parents’ responses revealed that those with SYNGAP1-related ID had a high rate of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). Qualitative analysis revealed that their general behavior impacted the themes of daily living skills, distress-related behaviors, emotional regulation, difficulty with change, a lack of danger awareness, and sensory differences. Sensory themes included auditory, visual, tactile, gustatory, and proprioceptive. Study group findings and behavioral descriptions provide important insights and implications for diagnosing and treating SYNGAP1-related ID.

Source:jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-022-09437-x