title: A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.
abstract: A connection between LEOPARD syndrome (a rare autosomal dominant disorder) and autism spectrum disorders (ASDs) may exist. Of four related individuals (father and three sons) with LEOPARD syndrome, all patients exhibited clinical symptoms consistent with ASDs. Findings included aggressive behavior and impairment of social interaction, communication, and range of interests. The coexistence of LEOPARD syndrome and ASDs in the related individuals may be an incidental familial event or indicative that ASDs is associated with LEOPARD syndrome. There have been no other independent reports of the association of LEOPARD syndrome and ASDs. Molecular and biochemical mechanisms that may suggest a connection between LEOPARD syndrome and ASDs are discussed.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Japan. york@med.kurume-u.ac.jp
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Shoji
authors.initials: S
authors.lastname: Yano
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Niihori
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Toyojiro
authors.initials: T
authors.lastname: Matsuishi
mesh_terms: D000293:Adolescent; D000374:Aggression; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D015897:Comorbidity; D006801:Humans; D007398:Interpersonal Relations; D044542:LEOPARD Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D055815:Young Adult