The Establishment of a Well-Characterized Cohort for Autism Studies at the Massachusetts General Hospital

This project established a well-characterized and documented patient sample and database that allowed investigators to begin a multidisciplinary, comprehensive program designed to elucidate underlying mechanisms important in the manifestation of autism. The investigators envisioned the establishment of a repository of genotypic and phenotypic information which served the needs of researchers interested in the neurobiology of the disorder. The patient sample and database was developed from the patient population of the Learning and Developmental Disabilities Evaluation and Rehabilitation Service (LADDERS) program. In one year, 75 individuals with autism and their immediate family members who sought treatment at the LADDERS program were recruited and expertly phenotyped with measures that support a myriad of studies investigating the etiology of autism. A comprehensive database was created that contained all of the phenotypic and genetic information for these families. Both quantitative and qualitative phenotypes were assessed for individuals with autism, their siblings and parents. All of the individuals with autism were examined for evidence of gastrointestinal difficulties, immune dysfunction, and medical problems that may be associated with mitochondrial disorders. A permanent bank of cell lines was established from recruited families to support gene mapping studies and DNA, RNA and protein level analyses in the future.