A recently identified neurodevelopmental condition called SYNGAP1-related intellectual disability (ID) was brought on by a pathogenic mutation in the SYNGAP1 gene. The predominance of current diagnoses in case series had, to yet, largely served as a spotlight for the behavioral aspects of this disorder. By conducting interviews with parents of children who had SYNGAP1-related ID to get their descriptions of their child’s behavior, researchers set out to define the behavioral characteristics of this disorder. With parents and other family members, they conducted 27 semi-structured interviews. The questions covered basic details (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. Parents’ replies revealed that those with SYNGAP1-related ID had significant rates of autistic spectrum disorder (52%), problems with fine and gross motor abilities, delays in language development, and a high prevalence of epilepsy (70%). According to qualitative analysis, their overall behavior was found to impact the themes of daily living abilities, distress-related behaviors, emotional regulation, difficulty with change, a lack of risk awareness, and sensory differences. Themes related to auditory, visual, tactile, gustatory, and proprioceptive senses were described as sensory characteristics. The findings and behavioral descriptions provided important insights and implications for diagnosing and treating people with SYNGAP1-related ID.
Source- jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-022-09437-x
