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Journal article
Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study
NeuroImage clinical, v 2(1), pp 197-203
17 Jan 2013
PMID: 23667827
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
As a group, people with the sex chromosome aneuploidy 49,XXXXY have characteristic physical and cognitive/behavioral tendencies, although there is high individual variation. In this study we use magnetic resonance imaging (MRI) to examine brain morphometry in 14 youth with 49,XXXXY compared to 42 age-matched healthy controls. Total brain size was significantly smaller (t = 9.0, p < .001), and rates of brain abnormalities such as colpocephaly, plagiocephaly, periventricular cysts, and minor craniofacial abnormalities were significantly increased. White matter lesions were identified in 50% of subjects, supporting the inclusion of 49,XXXXY in the differential diagnosis of small multifocal white matter lesions. Further evidence of abnormal development of white matter was provided by the smaller cross sectional area of the corpus callosum. These results suggest that increased dosage of genes on the X chromosome has adverse effects on white matter development.
► Total brain size was significantly smaller. ► Rates of brain abnormalities were significantly increased. ► Smaller cross sectional area of the corpus callosum.
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Details
- Title
- Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study
- Creators
- Jonathan D. Blumenthal - Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, 10 Center Drive, Bethesda, Maryland, USA.Eva H. Baker - United States Department of Health and Human ServicesNancy Raitano Lee - UNSW SydneyBenjamin Wade - Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, 10 Center Drive, Bethesda, MD, USALiv S. Clasen - Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, 10 Center Drive, Bethesda, MD, USARhoshel K. Lenroot - Neuroscience Research AustraliaJay N. Giedd - Child Psychiatry Branch, National Institute of Mental Health, NIH, DHHS, 10 Center Drive, Bethesda, MD, USA
- Publication Details
- NeuroImage clinical, v 2(1), pp 197-203
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychological and Brain Sciences (Psychology)
- Web of Science ID
- WOS:000209276800022
- Scopus ID
- 2-s2.0-84873427415
- Other Identifier
- 991019296799904721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Neuroimaging