title: Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data.
abstract: The effects of a monosomy of either the maternally or paternally derived X chromosome in Turner's syndrome (TS) on general neurocognitive status and some executive abilities were assessed using the maximum likelihood estimators for pedigree data. This method increases the power of analysis by accounting for the effect of background heritable variation on a trait. The sample comprised 42 females with regular non-mosaic X monosomy and their non-affected relatives. Wechsler neurocognitive scores and several executive function tests' scores, including the Behaviour Dyscontrol Scale (BDS-2), the Wisconsin Card Sorting Test (WCST), and the Rey Complex Figure Test (RCFT), were considered in the analysis. Results showed a significant effect of TS on all Wechsler index and subtest scores, with greatest deficits observed in Arithmetic, Block Design, Object Assembly and Picture Arrangement, and on the total BDS, RCFT and WCST scores, regardless of parental origin of the single X-chromosome. Our data also showed a significantly higher effect of a paternally derived X chromosome in diminishing the performance on several Wechsler scores relevant to verbal skills, which might suggest X-linked imprinting loci relevant to these skills. Possible reasons for the inconsistency of the results concerning X-linked imprinting of cognitive loci using TS patients are discussed, and the relevance of pedigree analysis to future studies of this problem is emphasized.
authors.affiliation: School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia. d.loesch@latrobe.edu.au
authors.forename: Danuta Z
authors.initials: DZ
authors.lastname: Loesch
authors.forename: Quang Minh
authors.initials: QM
authors.lastname: Bui
authors.forename: Wendy
authors.initials: W
authors.lastname: Kelso
authors.forename: Richard M
authors.initials: RM
authors.lastname: Huggins
authors.forename: Howard
authors.initials: H
authors.lastname: Slater
authors.forename: Garry
authors.initials: G
authors.lastname: Warne
authors.forename: Philip B
authors.initials: PB
authors.lastname: Bergman
authors.forename: Paul
authors.initials: P
authors.lastname: Bergman
authors.forename: Christine
authors.initials: C
authors.lastname: Rodda
authors.forename: Robert John
authors.initials: RJ
authors.lastname: Mitchell
authors.forename: Margot
authors.initials: M
authors.lastname: Prior
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003071:Cognition / Q000502:physiology*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D010375:Pedigree; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology*; D014888:Wechsler Scales