Clinical and Immunological Investigations of Subtypes of Autism

Objective: The current investigation focuses on finding meaningful subtypes of autism. Our objectives include using comprehensive and longitudinal medical assessments and behavioral testing to find subgroups of children with autism with profiles that comprise distinct biological/behavioral phenotypes. Specific goals include determining if there is a unique alteration in immune function among autistic children with a regressive clinical course, and identifying autism-specific sleep and electroenchelalogram (EEG) abnormalities, and other potential biomarkers. Study Population: We are conducting a longitudinal natural history study of 140 children with autism, 12 to 84 months of age at study entry. We also are following as many as 75 typically developing children, and 50 children with Developmental Delay to serve as age-/sex-matched controls. Design: Systematic prospective evaluations are being utilized to determine diagnostic and functional outcomes, and evaluate behavioral, medical and immunologic functioning. These evaluations include comprehensive medical history, behavioral assessment, physical and neurologic examination, polysomnography (PSG) and EEG, and blood work for laboratory assays. Baseline evaluations also included MRI and lumbar puncture (the latter was only subjects with autism). In any investigation of behavioral outcomes and potential biomarkers, repeated assessments are necessary to determine whether findings are due to state versus trait alterations. Thus, key elements of the assessments are repeated every 6 to 12 months, depending on the child s age. Outcome Variables: Measures of autism symptoms and severity, along with cognitive and adaptive behavior profiles, will be used as behavioral outcome variables. Results of physical and neurological examinations, genetic testing, EEGs, polysomnograms, MRI scans and laboratory assays of blood and CSF will be tested for their utility as biomarkers of autism s core symptoms or identification of etiologically related subgroups of patients.