Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies

What this Trial Is About

Researchers are studying individuals with genetic variants in hnRNP and other genes that are linked to neurodevelopmental disorders. These disorders affect the development of the central nervous system and can cause developmental delay, intellectual disability, autism spectrum features, and muscle tone abnormalities. The study aims to understand the patterns of neurological and medical issues in people with these genetic changes by collecting both past clinical data and new information over time. This is a non-interventional, observational study that collects medical data routinely gathered during clinical care. Participants with confirmed genetic variants related to neurodevelopmental abnormalities will be included. Researchers will collect data through questionnaires, neuropsychological and motor assessments, and electroencephalography to evaluate various aspects of the disorders. The study focuses on a range of hnRNP genes and other related genes. Participants will provide information through assessments that measure behavior, sleep, sensory issues, social communication, anxiety, language skills, executive functioning, motor performance, and daily activities over a period of 5 years. The study will also review neurological tests such as brain MRI and EEG. The research team will maintain an ongoing database to analyze medical and educational impairments associated with the genetic variants. The study is expected to continue until December 2030.

Longitudinal Study of Neurogenetic Disorders