Document Detail

Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome.
MedLine Citation:
PMID:  23057627     Owner:  NLM     Status:  MEDLINE    
AIM: To assess global and regional brain matter variations associated with XYY syndrome by comparison with Klinefelter syndrome and typical development.
METHODS: We used two conceptually distinct voxel-based magnetic resonance imaging methods to examine brain structure in young males with XYY syndrome: (1) volumetric comparison to assess global grey and white matter volumes and (2) support vector machine-based multivariate pattern classification analysis to assess regional neuroanatomy. We assessed verbal, non-verbal, and spatial abilities with the Differential Ability Scales (DAS), and we measured autism diagnostic criteria in eight males with XYY syndrome using the Social Responsiveness Scale and the Autism Diagnostic Interview-Revised (ADI-R).
RESULTS: A comparison of 36 typically developing males (mean age 11 y, SD 1 y 9 mo), 31 males with Klinefelter syndrome (mean age 9 y 8 mo, SD 1 y 8 mo), and eight males with XYY syndrome (mean age 11 y 6 mo, SD 1 y 11 mo) showed that total white and grey matter volumes were significantly, or nearly significantly, higher in males with XYY syndrome than in males belonging to the other two groups (grey matter: XYY males vs typically developing males, p<0.006; XYY vs males with Klinefelter syndrome, p<0.001; white matter: XYY males vs typically developing males, p=0.061; XYY males vs males with Klinefelter syndrome, p=0.004). Voxel-based multivariate pattern classification analysis indicates that, after controlling for global volumes, regional brain variations in XYY syndrome are more like those found in Klinefelter syndrome than those occurring in typical development. Further, visualization of classification parameters suggests that insular and frontotemporal grey matter and white matter, including known language areas, are reduced in males with XYY syndrome, similar to what is seen in Klinefelter syndrome. In males with XYY syndrome, DAS verbal and non-verbal scores were significantly lower than in typically developing participants (both p<0.001). DAS scores were not significantly different between XYY and Klinefelter syndrome groups. In five of eight males with XYY syndrome, the Social Responsiveness Scale score exceeded the cut-off for a likely diagnosis of autism spectrum disorder (ASD). In three of eight males with XYY syndrome, the ADI-R score met the cut-off for ASD diagnosis; in another two, ADI-R scores within the social and communication domains met the cut-off values for a diagnosis of ASD.
INTERPRETATION: The results suggest that genetic variations associated with XYY syndrome result in increased brain matter volumes, a finding putatively related to the increased frequency of ASDs in individuals with this condition. In addition, frontotemporal grey and white matter reductions in XYY syndrome provide a likely neuroanatomical correlate for observed language impairments.
Daniel M Bryant; Fumiko Hoeft; Song Lai; John Lackey; David Roeltgen; Judith Ross; Allan L Reiss
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural     Date:  2012-10-12
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  54     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-20     Completed Date:  2013-02-07     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1149-56     Citation Subset:  IM    
Copyright Information:
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
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MeSH Terms
Brain / pathology*,  physiopathology
Child Development Disorders, Pervasive / diagnosis,  genetics,  pathology,  physiopathology
Chromosomes, Human, X / genetics*
Chromosomes, Human, Y / genetics*
Frontal Lobe / pathology,  physiopathology
Klinefelter Syndrome / genetics,  pathology*,  physiopathology
Magnetic Resonance Imaging / instrumentation,  methods*
Neuropsychological Tests
Sex Chromosome Disorders / genetics,  pathology*,  physiopathology
Temporal Lobe / pathology,  physiopathology
XYY Karyotype / genetics,  pathology*,  physiopathology
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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