Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

Authors

  • Carole A. Samango-Sprouse Ed.D,

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    • Neurodevelopmental Diagnostic Center for Young Children, 2222-E Defense Highway, Crofton, MD 21114.
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    • Carole Samango-Sprouse, Ed.D is an Associate Clinical Professor of Pediatrics at the George Washington University School of Medicine and Health Sciences. She is actively involved in the clinical and developmental care of children with rare neurogenetic disorders. She is the CEO of the Neurodevelopmental Diagnostic Center providing care for children with uncommon neurogenetic disorders from all over the world. She writes extensively about the relationship between brain function, neurodevelopmental profile, and neurogenetic disorder. She has provided care for children with X and Y Chromosomal Variations for over 15 years.

  • Emily Stapleton,

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    • Emily Stapleton graduated from the University of Virginia with a B.A. in Cognitive Science. She has been working as a research assistant for The Focus Foundation for over a year.

  • Teresa Sadeghin,

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    • Teresa Sadeghin has been working with young children since 1970. She is a program administrator at the Neurodevelopmental Diagnostic Center for Young Children. Mrs. Sadeghin coordinates studies, serves as a liaison to parents and organizes specialty programs.

  • Andrea L. Gropman

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    • Andrea Gropman, M.D., is an Associate Professor of Neurology and Pediatrics at the George Washington University of the Health Sciences and an attending at the Children's National Medical Center in Washington, D.C. She is the Chief of the division of Neurogenetics and Neurodevelopmental Pediatrics. She is involved in clinical and molecular testing of patients with Neurogenetic conditions and her research is focused on neurological and neurodevelopmental phenotyping of genetic conditions. She also performs research using neuroimaging in children and adults with inborn errors of metabolism. She has overseen the care of children with X and Y Chromosomal Variations for over 15 years.


  • How to Cite this Article: Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL. 2013. Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? Am J Med Genet Part C Semin Med Genet 163C: 27–34.

Abstract

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.

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