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Chunk #6 — Materials and methods — Clinical and genetic characteristics of the autistic subjects

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The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.
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The source of our clinical data was the medical records of the autistic subjects, which consisted of psychological, behavioral, neurological and psychiatric evaluation reports. All of the records were obtained after the subjects’ deaths. The Autism Diagnostic Interview-Revised (ADI-R) was administered to each donor family as a standardized assessment tool in order to confirm the diagnosis on a postmortem basis. Inclusion of the subject in this study was based on a summary of scores of four domains: (a) qualitative abnormalities in reciprocal social interaction; (b) qualitative abnormalities in verbal and nonverbal communication; (c) restricted, repetitive and stereotyped patterns of behavior; and (d) abnormality of development evident at or before 36 months [69]. All 13 autistic subjects met ADI-R criteria for autism. For some subjects, the intellectual evaluation was available and was based on the Wechsler Intelligence Scale for Children III and the Woodcock-Johnson Tests of Achievement-Revised (Table 2). Eight subjects were diagnosed with intellectual disability, usually in the range from mild to severe (61%). Six of 13 autistic subjects had seizures (46%). In five cases, the age of onset of