title: High functioning autism and Childhood Disintegrative Disorder in half brothers.
abstract: Childhood Disintegrative Disorder (CDD) is grouped with autism as a subtype of Pervasive Developmental Disorder (PDD) in ICD-10 and DSM-IV. This is the first report of autism and CDD cosegregating within a sibship. J. P. and M. P. are half-brothers with the same mother. J. P. is an 18-year-old with impairments in communication, social reciprocity, and stereotypies and was diagnosed with autism. M. P. is a 7-year-old who developed normally to 2 years 4 months. He then underwent a profound regression, becoming nonverbal and socially withdrawn, and lost adaptive skills. Investigations did not reveal any neurodegenerative process. M. P. was diagnosed with CDD. The rarity of the two conditions suggests a shared transmissible mechanism. The implications for autism/PDD genetic studies are discussed.
authors.affiliation: Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. zwaigenb@fhs.mcmaster.ca
authors.forename: L
authors.initials: L
authors.lastname: Zwaigenbaum
authors.forename: P
authors.initials: P
authors.lastname: Szatmari
authors.forename: W
authors.initials: W
authors.lastname: Mahoney
authors.forename: S
authors.initials: S
authors.lastname: Bryson
authors.forename: G
authors.initials: G
authors.lastname: Bartolucci
authors.forename: J
authors.initials: J
authors.lastname: MacLean
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D002675:Child, Preschool; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011569:Psychiatric Status Rating Scales; D012043:Regression, Psychology