Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description.

ABSTRACT:

Background

SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child's behaviour.

Methods

We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their chi

SUBMITTER: Wright D 

PROVIDER: S-EPMC9164368 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature