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
- 2000. The child behavior checklist and related forms for assessing behavioral/emotional problems and competencies. Pediatr Rev 21:265–271. , .
- 1982. The personality and psycho-sexual development of boys with 47,XXY chromosome constitution. J Child Psychol Psychiatry 23:169–180. , , .
- 1997. Behavioral inhibition, sustained attention, and executive functions: Constructing a unifying theory of ADHD. Psychol Bull 121:65–94. .
- 1997. At risk for anxiety: I. Psychopathology in the offspring of anxious parents. J Am Acad Child Adolesc Psychiatry 36:918–924. , .
- 1986. Dyslexia in 47,XXY in boys identified at birth. Behav Genet 16:343–354. , , , .
- 1993. Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities. Am J Med Genet 48:169–173. , , .
- 1995. Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics 96:302–308. , , , .
- 2001. Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. Am J Med Genet 102:309–313. , , .
- 2010. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 96:954–959. , , , , , , , , , , , , , .
- 2003. Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. J Clin Endocrinol Metab 88:622–626. , , .
- 1956. Chromatin test in Klinefelter's syndrome. J Clin Endocrinol Metab 16:689. , , .
- 2012. Attentional threat avoidance and familial risk are independently associated with childhood anxiety disorders. J Child Psychol Psychiatry DOI: 10.1111/jcpp.12024. , , , , , .
- 2010. Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS ONE 5:e10887. , , , , , , .
- 2011. Neuroanatomical phenotype of Klinefelter syndrome in childhood: A voxel-based morphometry study. J Neurosci 31:6654–6660. , , , , , , .
- 2005. Social responsiveness scale (SRS). Los Angeles, CA: Western Psychological Services. , .
- 2003. A twin study of anxiety-related behaviours in pre-school children. J Child Psychol Psychiatry 44:945–960. , , , , , .
- 2007. Feeling anxious: A twin study of panic/somatic ratings, anxiety sensitivity and heartbeat perception in children. J Child Psychol Psychiatry 48:1184–1191. , , , .
- 2000. Neurobehavioral phenotype of klinefelter syndrome. Men Retard Dev Disabil Res Rev 6:107–116. DOI: 2-2 , , , .
- 2007. XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic resonance imaging case-control study. Pediatrics 19:e232–e240. , , , , , , , , , , , .
- 1995. Gilliam autism rating scale. Austin, TX: PRO-ED. .
- 2006. Gilliam autism rating scale, 2nd edition. Austin, TX: PRO-ED. .
- 2009. Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. J Pediatr 155:439–443. , , , , , , , .
- 1942. Syndrome characterized by gynecomastia aspermatogenes without Aleydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab 2:615–627. , , .
- 2004. Inhibin B and anti-Mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab 89:1864–1868. , , , .
- 2011. Executive function in young males with klinefelter (XXY) syndrome with and without comorbid attention-deficit/hyperactivity disorder. J Int Neuropsychol Soc 22:1–9. , , , , , , , .
- 1991. Klinefelter syndrome: The need for early identification and treatment. Clin Pediatr (Phila) 30:161–164. , .
- 2008. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16:163–170. , , , .
- 1991. Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87:81–83. , .
- 2001. Early reading development in children at family risk for dyslexia. Child Dev 72:816–833. , .
- 1997. Broader autism phenotype: Evidence from a family history study of multiple-incidence austism families. Am J Psychiatry 154:185–190. , , , , .
- 2007. Very early phonological and language skills: Estimating individual risk of reading disability. J Child Psychol Psychiatry 48:923–931. , , , , , , , , .
- 1979. Summary of clinical findings: Profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects Orig Artic Ser 15:261–266. , , , .
- 1990. Summary of clinical findings in children and young adults with sex chromosome anomalies. Birth Defects Orig Artic Ser 26:225–228. , , .
- 2005. Early androgen deficiency in infants and young boys with 47, XXY klinefelter syndrome. Horm Res 64:39–45. , , , , , .
- 2012. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics 129:769–778. , , , , , , , .
- Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47, XXY Syndrome at 36 and 72 months of age. Am J Med Genet Part A DOI DOI 10.1002 ajmg.a.35769. , , , , , , . 2012a.
- Expanding the phenotypic profile of boys with XXY—Is it all about the X? Oral Abstracts. J Intellect Disabil Res 56:927. , , , , . 2012b.
- 2012. Advances in research on the neurological and neuropsychiatric phenotype of klinefelter syndrome. Curr Opin Neurol 25:138–143. .
- 1990. Very early language deficits in dyslexic children. Child Dev 61:1728–1743. .
- 2003. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genet Med 5:460–468. , , , , , , , , , , , , , , , , , , , .
- 2005. Klinefelter syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 2e. New York: Wiley-Liss. p 323–334. , , , .
- 2003. Family risk of dyslexia is continuous: Individual differences in the precursors of reading skill. Child Dev 74:358–373. , , .
- 2012. Criminality in men with klinefelter's syndrome and XYY syndrome: A cohort study. BMJ Open 2:e000650. , , , , .
- 2012. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr 33:309–318. , , , .
- 2006. Predicting delayed letter knowledge development and its relation to grade 1 reading achievement among children with and without familial risk for dyslexia. Dev Psychol 42:1128–1142. , , , , .
- 2007. Reading development subtypes and their early characteristics. Ann Dyslexia 57:3–32. , , , , , , .
- 2011. Parental literacy predicts children's literacy: A longitudinal family-risk study. Dyslexia 17:339–355. , , , .
- 2011. Dutch children at family risk of dyslexia: Precursors, reading development, and parental effects. Dyslexia 17:2–18. , , , , , .
- 2012. Child and parental literacy levels within families with a history of dyslexia. J Child Psychol Psychiatry 53:28–36. , , , , .
- 2001. Characteristics of dyslexia in a dutch family. Dyslexia 7:105–124. , , .
- 2011. Psychophysiological markers of vulnerability to psychopathology in men with an extra X chromosome (XXY). PLoS ONE 6:e20292. , , , , .
- 2007. Thinking about you thinking about me, 2nd edition. San Jose, CA: Think Social Publishing. 316 pp. .
- 2012. Longitudinal genetic analysis of anxiety sensitivity. Dev Psychol 48:204–212. , , .
- 2008. Effect of ascertainment and genetic features on the phenotype of klinefelter syndrome. J Pediatr 152:716–722. , , , , , , .