these patients had standard of care neuromedical assessments, including physical examination, medical and neurological history, fragile X testing, and other genetic and metabolic testing when indicated. MRI was obtained for patients in whom a brain malformation was suspected or seizures were present. In addition, IQ scores (usually from the Stanford-Binet) and adaptive behavior measures were obtained from the patients’ existing medical records. Secondary assessments were conducted on the most informative pedigrees by the Boston clinical team in collaboration with local multi-disciplinary teams. Clinical members of the Boston team included: developmental psychologists (Janice Ware, Elaine LeClaire, Robert M. Joseph), pediatric neurologists (Ganesh H. Mochida, Anna Poduri), a clinical geneticist (Wen-Han Tan), and a neuropsychiatrist (Eric M. Morrow). The secondary assessment battery was designed to obtain a comprehensive description of current and historical autism symptomatology, cognitive and adaptive functioning, and neurological and physical morphological status in the patient and pedigree. The secondary assessment included: neurologic examination; genetic dysmorphology examination; the CARS; the Social Communication Questionnaire (SCQ) administered with probing on par with the ADI-R by ADI-R reliable examiners; the ADOS (usually Module 1); the Vineland Adaptive Behavior Scales, Second Edition (VABS-II); Kaufman Brief Intelligence Test, Second Edition (KBIT-II). ADOS assessments were videotaped
