Document Detail

Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?
MedLine Citation:
PMID:  23359595     Owner:  NLM     Status:  MEDLINE    
The behavioral phenotype of children with XXY has not been extensively studied until recently and this research has been confounded by insufficient study populations and ascertainment biases. The aim of the study was to expand the behavioral aspect of the XXY phenotype as well as investigate the role of existing familial learning disabilities (FLD) on behavioral problems. Behavioral phenotype of XXY includes social anxiety, ADHD, social communication, and atypical peer interactions. The Child Behavior Checklist (CBCL), Social Responsiveness Scale (SRS), and Gilliam Autism Rating Scale (GARS) were completed by the parents of 54 boys with XXY who had not received hormonal replacement prior to participation. Our findings suggest fewer behavioral deficits and lower severity in the general 47,XXY population than previously published and found significant differences between the groups with a positive FLD on the behavioral assessments. Findings demonstrate that boys with FLD exhibit an increased incidence and severity of behavioral problems. Our study expands on the findings of Samango-Sprouse et al. [Samango-Sprouse et al. (2012b) J Intellect Disabil Res] and the significant influence that FLD has on not only neurodevelopment, but also behavioral deficits. Our study suggests that part of the XXY phenotypic profile may be modulated by FLD. Further study is underway to examine the interaction between the many salient factors effecting behavioral and neurodevelopmental progression in XXY and variant forms. © 2013 Wiley Periodicals, Inc.
Carole A Samango-Sprouse; Emily Stapleton; Teresa Sadeghin; Andrea L Gropman
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  163C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-29     Completed Date:  2013-05-20     Revised Date:  2013-09-16    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  27-34     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Neurodevelopmental Diagnostic Center for Young Children, Crofton, MD 21114, USA.
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MeSH Terms
Child, Preschool
Chromosomes, Human, X*
Learning Disorders / complications,  genetics*,  physiopathology*
Mental Disorders / complications,  genetics*,  physiopathology*
Middle Aged
Retrospective Studies
Sex Chromosome Disorders of Sex Development / complications,  genetics,  physiopathology
Young Adult

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