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.
Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?†
Article first published online: 28 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Medical and Neurodevelopmental Aspects of XXY and Related Multiple X Conditions
Volume 163, Issue 1, pages 27–34, 15 February 2013
How to Cite
Samango-Sprouse, C. A., Stapleton, E., Sadeghin, T. and Gropman, A. L. (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., 163: 27–34. doi: 10.1002/ajmg.c.31353
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.
- Issue published online: 28 JAN 2013
- Article first published online: 28 JAN 2013
- Klinefelter syndrome;
- language-based learning disabilities;
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.