title: Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.
abstract: The purposes of this study were to identify differences in patterns of developmental abnormalities between the brains of individuals with autism of unknown etiology and those of individuals with duplications of chromosome 15q11.2-q13 (dup[15]) and autism and to identify alterations that may contribute to seizures and sudden death in the latter. Brains of 9 subjects with dup(15), 10 with idiopathic autism, and 7 controls were examined. In the dup(15) cohort, 7 subjects (78%) had autism, 7 (78%) had seizures, and 6 (67%) had experienced sudden unexplained death. Subjects with dup(15) autism were microcephalic, with mean brain weights 300 g less (1,177 g) than those of subjects with idiopathic autism (1,477 g; p<0.001). Heterotopias in the alveus, CA4, and dentate gyrus and dysplasia in the dentate gyrus were detected in 89% of dup(15) autism cases but in only 10% of idiopathic autism cases (p < 0.001). By contrast, cerebral cortex dysplasia was detected in 50% of subjects with idiopathic autism and in no dup(15) autism cases (p<0.04). The different spectrum and higher prevalence of developmental neuropathologic findings in the dup(15) cohort than in cases with idiopathic autism may contribute to the high risk of early onset of seizures and sudden death.
authors.affiliation: Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA. Jerzy.Wegiel@opwdd.ny.gov
authors.forename: Jerzy
authors.initials: J
authors.lastname: Wegiel
authors.forename: N Carolyn
authors.initials: NC
authors.lastname: Schanen
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Cook
authors.forename: Marian
authors.initials: M
authors.lastname: Sigman
authors.forename: W Ted
authors.initials: WT
authors.lastname: Brown
authors.forename: Izabela
authors.initials: I
authors.lastname: Kuchna
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Nowicki
authors.forename: Jarek
authors.initials: J
authors.lastname: Wegiel
authors.forename: Humi
authors.initials: H
authors.lastname: Imaki
authors.forename: Shuang Yong
authors.initials: SY
authors.lastname: Ma
authors.forename: Elaine
authors.initials: E
authors.lastname: Marchi
authors.forename: Teresa
authors.initials: T
authors.lastname: Wierzba-Bobrowicz
authors.forename: Abha
authors.initials: A
authors.lastname: Chauhan
authors.forename: Ved
authors.initials: V
authors.lastname: Chauhan
authors.forename: Ira L
authors.initials: IL
authors.lastname: Cohen
authors.forename: Eric
authors.initials: E
authors.lastname: London
authors.forename: Michael
authors.initials: M
authors.lastname: Flory
authors.forename: Boleslaw
authors.initials: B
authors.lastname: Lach
authors.forename: Thomas
authors.initials: T
authors.lastname: Wisniewski
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002828:Choristoma / Q000473:pathology; D058674:Chromosome Duplication / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D015331:Cohort Studies; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009929:Organ Size / Q000235:genetics; D018709:Statistics, Nonparametric; D055815:Young Adult