Discoveries of new genetic causes of autism spectrum and other neurodevelopmental disorders is an important first step. However, individuals with newly uncovered diseases face challenging questions that require further research to improve diagnosis, prognosis, and therapeutics. Example of genes under investigation include EBF3, EIF2AK1, EIF2AK2, STXBP1.
What are the goals of the study?
Improve knowledge of the genetic basis, mechanistic determinants, range of outcomes and advance clinical knowledge for newly diagnosed autism spectrum and other related neurodevelopmental disorders uncovered by the efforts of the Undiagnosed Diseases Network and other genomic studies at the Duncan Neurological Research Institute and Baylor College of Medicine. Objectives include defining diagnostic criteria, understanding the natural history, facilitating prognosis, establishing a biorepository, and investigating genetic and genomic alterations.
What will happen during the visit or online?
(1) Providing demographics and medical record information. (2) Blood samples will be obtained from the patient as well as the parent and healthy siblings. In some cases, based on the preference of the family, saliva samples may be obtained rather than blood for DNA studies. (3) Skin biopsy to establish fibroblasts for functional and genetic studies. (4) Depending on the genetic alteration, participants may be eligible for remote neuropsychology surveys, in person neuropsychology and autism assessments, and in person brain MRIs.
How will this help families?
The research studies may improve the interpretation of DNA variants in autism spectrum disorders, confirm the diagnosis or carrier status of disease, help provide a better understanding and management of the disease in the family, and better understanding of the genetics of the disorder with better information about its inheritance or natural history. The information which will become available about these disorders may be important to the diagnosis of others and development of new treatments.