We encourage parents of a child with intellectual disability (ID) and / or autism spectrum disorders (ASD) to share clinical information on their child via GenIDA: https://genida.unistra.fr/.
GenIDA is an acronym for Genetics of Intellectual Disabilities and Autism Spectrum Disorders. It is a family-oriented international online clinical database that collects medically relevant information on individuals with ID and / or ASD.
The information is entered and updated via the parents / families and is crucial for the delineation of the clinical spectrum of many rare and previously unrecognized medical conditions. In fact, the parents are the expert and have answers to many questions. It is up to researchers and clinicians to collect, to summarize, and to interpret the data. By doing so we can describe the full spectrum of clinical features including longitudinal data. This might provide tools for tailor-made clinical follow-up, management protocols and, where possible, appropriate therapy.
You can create your account at: https://genida.unistra.fr/
GenIDA is a robust system that allows us to perform extensive data analysis and is available in multiple languages.
Registry for individuals with mutations in the BAF Pathway
Dr. Samantha Vergano at Children’s Hospital of The King’s Daughters in Norfolk, VA, USA, conducts an IRB-approved registry for individuals with mutations in the BAF Pathway (ARID1A, ARID1B, ARID2, SMARCB1, SMARCE1, SMARCA4, SOX11). The registry involves a parent/caregiver-completed online survey and collection of medical records.