Describes an Italian patient with Asperger disorders, Neurogenic Diabetes Insipidus, and Primary Empty Sella. His response to vasopressin treatment suggested a concomitant presence of primary polydipsia. Implications of the observed concurrence of these rare disorders are discussed in relation to diagnosis and pathogenesis. (Author/CR)

A case study is presented of a Brazilian adolescent with a behavioral profile meeting the criteria of autism. After clinical and laboratory examinations, it was found that he had an abnormal karyotype. The need for case studies to develop data for defining an etiological basis for diagnosis is emphasized. (CR)

A two-stage protocol for screening for autistic spectrum disorders (ASD) was evaluated in a random population of 31,724 children aged 14-15 months. Children were first pre-screened by physicians at well-baby clinics using a 4-item screening instrument. Infants that screened positive were then evaluated during a 1.5-h home visit by a trained…

A case study of an adolescent with catatonia superimposed on autism is presented. The symptoms of the patient are highlighted and include abnormal social interactions, deficits in symbolic play and in communicative language, and occurrence of hallucinations and delusions. Treatment of the patient with clozapine and lorasepam is described. (CR)

The objective of this review is to clarify the role of matching in family genetic studies of autism as a way of defining endophenotypes for linkage analysis. The concept of a confounding variable is reviewed and the importance of considering these in family studies of three endophenotypes in autism are considered: cognitive/language impairments,…