The Focus Foundation fosters innovative, fast-paced, safe and creative research. Our scientific studies have patient centered outcomes and often our parents prompt the studies through their questions and concerns. Our research articles are published in peer reviewed journals that are reputable, well-respected and responsible in their various disciplines. The Focus Foundation is firmly committed to highlighting the strengths and challenges of our children through sound scientific studies and exploring the potential impact of targeted and novel treatments. Results of these studies and utilized to promote targeted treatments, prompt recovery, and the well-being of our patients.

Book cover X & Y Chromosomal Variations from Carole Samango-Sprouse and Andrea Gropman

X & Y Chromosomal Variations (Publication)

Dr. Carole Samango-Sprouse and Dr. Andrea Gropman, have published a book presenting the latest in research and clinical care. and addressing neurodevelopment in children with X and Y Chromosomal Variations.

Now stocked in more than 200 medical institutions across the country, this popular book is now available in paperback!

focus-foundation-our-research

… a wonderful review of the clinical knowledge associated with Karyoptypic abnormalities of the X and Y Chromosomes.

Luis Escobar, M.D., M.S.

A Wonderful Review

focus-foundation-our-research

… there is no comparable book on the market.

Doody Enterprises, Inc

Nothing Compares

We suggest you consider offering a copy of this book to your team of physicians so they can more clearly understand your child’s diagnosis and today’s treatment options.

It is available to buy here. Even better, our XY families receive a 25% discount with the coupon code XYPARENT. (Also available on all major book sites, but discount code only valid through publisher.)

Published Books and Chapters

Please contact us for PDF files of specific articles listed.
Title Author Journal (Year)
Chapter 35: 47,XXY (Klinefelter Syndrome) and related X and Y Chromosomal Conditions. Management of Genetic Syndromes. 4th Edition Samango-Sprouse, C.; Graham, J.; Swerdloff, R.; Visootsak, J. Eds. Cassidy, S.B.; Allanson, J.E. Wiley-Liss, 2020
Book: X and Y Chromosomal Variations: Hormones, Brain Development, and Neurodevelopmental Performance Samango-Sprouse, C.; Gropman, A. The Colloquium Digital Library of Life Sciences. October 11, 2016
Chapter: “Frontal Lobe Development in Childhood”, The Human Frontal Lobe: Functions and Disorders, 2nd Edition Samango-Sprouse, C. Eds. Miller, BL and Cummings, JL Guilford Press, New York, 2007

Published Peer-reviewed Articles

Please contact us for PDF files of specific articles listed.
Title Author Journal (Year)
A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome) Samango-Sprouse, C.A., Brooks, M.R., Counts, D., Hamzik, M.P., Song, S.Q., Powell, S., Sadeghin, T., Gropman, A.L. Frontiers in Genetics, 2022, section Genetics of Common and Rare Diseases. Manuscript ID: 808006
Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin Samango-Sprouse CA, Hamzik MP, Rosenbaum K, Khaksari K, Mitchell F, Kommareddi R, Brooks MR, Tipton E, Sadeghin T and Gropman AL Frontiers in Pediatrics 15 March 2022 10:817133. doi: 10.3389/fped.2022.817133
Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY Song, S. Q.  Gropman, A,  Benjamin, R. W.  Mitchell, F.,  Brooks, M.R., Hamzik, M.P., Sampson, K,  Kommareddi, K., Sadeghin, T. and Samango-Sprouse, C.A. Frontiers in Genetics 12 January 2022 | https://doi.org/10.3389/fgene.2021.808006
Case Report: Infant with Congenital Adrenal Hyperplasia and 47,XXY (Klinefelter syndrome) Song, S Q, A Gropman, R Benjamin, F Mitchell, M Brooks, MP Hamzik, K Sampson, R Kommareddi, T Sadeghin, Carole Samango-Sprouse Frontiers in Genetics, 2022, section Genetics of Common and Rare Diseases. Manuscript ID: 808006
A gene-by-gene mosaic of dosage compensation strategies on the human X chromosome. San Roman, Adrianna K. …et al. Carole Samango-Sprouse, Maximilian Muenke, and David C. Page. bioRxiv preprint doi: https://doi.org/10.1101/2021.08.09.455676; version posted August 9, 2021.
The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood. Samango-Sprouse, C; Brooks, MR.; Lasutchinkow, P; Sadeghin, T; Powell, S; Hamzik, MP; Song, Sa; and Gropman, AL. Genetics in Medicine. Published online 24 February 2021. https://doi.org/10.1038/s41436-021-01098-w
Klinefelter Syndrome and Turner Syndrome, in Brief. Samango-Sprouse C, S. Song, A. Lin, C. Powell, A. Gropman. Pediatrics in Review 2021;42;272 DOI: 10.1542/pir.2020-004028
Correspondence: Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities. Samango-Sprouse, C., Counts, D., Gropman, A. Am J Med Genet. 2021;185A:1004–1005.
Detection of maternal X chromosome abnormalities using single nucleotide polymorphism based noninvasive prenatal testing Martin KA, Samango-Sprouse CA, Kantor V, et al. American Journal of Obstetrics and Gynecology 2020
Speech and Language Development in children with 49,XXXXY syndrome Samango-Sprouse CA, Lasutschinkow PC, McLeod M, et al. American Journal of Medical Genetics: Part A June 2020
Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy Samango-Sprouse CA, Tran SL, Lasutschinkow PC, et al. American Journal of Medical Genetics: Part A. July 2020
Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome Counts DR, Yu C, Lasutschinkow PC, Sadeghin T, Gropman A, Samango-Sprouse CA American Journal of Medical Genetics: Part A 2020
Behavioral Phenotype of 49,XXXXY Syndrome: Presence of Anxiety-Related Symptoms and Intact Social Awareness Lasutschinkow, P.C., Gropman, A., Sadeghin, T., & Samango-Sprouse, C. American Journal of Medical Genetics: 2020
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder Samango-Sprouse, C.; Lasutschinkow, P. C.; Mitchell, F.; Porter, G.; Hendrie, P.; Powell, S.; Sadeghin, T.; Gropman, A American Journal of Medical Genetics: Part A 2020
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY Tosi L, Mitchell F, Porter GF, et al. American Journal of Medical Genetics: Part A 2020
A Review of the Intriguing Interaction Between Testosterone and Neurocognitive Development in males with 47,XXY Samango-Sprouse, C., Yu, C., Porter, G., Tipton, L., Lasutschinkow, P., Sadeghin, T Current Opinion in Obstetrics and Gynecology Volume 32, Number 2, April 2020.
Neurodevelopmental Outcome of Prenatally Diagnosed Boys with 47,XXY (Klinefelter syndrome) and the Potential Influence of Early Hormonal Therapy (EHT) Samango-Sprouse, C.A., Tran, S., Lasutschinkow, P.C., Sadeghin. T., Powell, S., Mitchell, F., and Gropman, A. The American Journal of Medical Genetics: Part A. 2020
A Review of the Intriguing Interaction Between Testosterone and Neurocognitive Development in males with 47,XXY Samango-Sprouse, C., Yu, C., Porter, G., Tipton, L., Lasutschinkow, P., Sadeghin, T. Current Opinion in Obstetrics and Gynecology. 2020
Investigating the impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs) Samango-Sprouse, C., Porter, G., Lasutschinkow, P., Tran, S, Sadeghin, T., Gropman, A. Prenatal Diagnosis. 2019
Update on the clinical perspectives and care of the child with 47,XXY (Klinefelter syndrome) Samango-Sprouse, C.A., Counts, D.R., Tran, S.L., Lasutschinkow, P.C., Porter, G.F., Gropman, A.L. The Application of Clinical Genetics. 2019
Hormonal replacement therapy (HRT) and its potential influence on working memory (WM) and competency/adaptive functioning (CAF) in 47,XY (Klinefelter syndrome). Tran, S., Samango-Sprouse, C., Sadeghin, T., Powell, S., Gropman, A. American Journal of Medical Genetics Pt A. 2019
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy Samango-Sprouse, C., Lasutschinkow, P., Powell, S., Sadeghin, T. & Gropman, A. Am J of Med Genet Part A (2019)
International Investigation of Neurocognitive and Behavioral Phenotype in 47, XXY (Klinefelter syndrome): Predicting Individual Differences Samango-Sprouse, C., Stapleton, E.J., Chea, S., et al. Am J Med Genet Part A (2018)
The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome) Samango-Sprouse, C. Prenatal Diagnosis (2017)
10-year-old Female with Intragenic KANSL1 Mutation, no KANSL1-related Intellectual Disability, and Preserved Verbal Intelligence Keen, C. Samango-Sprouse, C. Dubbs, H. Zackai, E. Am J Med Genet Part A (2017)
X & Y chromosomal variations : hormones, brain development, and neurodevelopmental performance Samango-Sprouse, C., & Gropman, A. L Morgan & Claypool Publishers (2017
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. Samango-Sprouse, C; Hall, MP; Kırkızlar, E; Curnow, K; Demko, Z; Lawson, P; Gross,S; Gropman, A. Public Library of Science (2016)
Expanding the Phenotypic Profile of Kleefstra Syndrome: A Female with Normal Intelligence and Childhood Apraxia of Speech Samango-Sprouse, Carole ; Lawson, P; Sprouse, C; Stapleton, E; Sadeghin, T; Gropman, A Am J Med Genet Part A. (2016)
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A Am J Med Genet Part A (2015)
Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Samango-Sprouse, C., Stapleton, E. J., Lawson, P., Mitchell, F., Sadeghin, T., Powell, S., & Gropman, A. L. (2015) Am J Med Genet C Semin Med Genet (2015)
Early Identification of Infants and Toddlers At Risk for Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) Samango-Sprouse, C. A., Stapleton, E., Aliabadi, F., Graw, R., Vickers, R., Haskell, K., Sadeghin, T., Jameson, R., Parmele, C. L., Gropman, A. L Autism (2014)
Positive Effects of Short Course Androgen Therapy on the Neurodevelopmental Outcome In Boys with 47, XXY Syndrome at 36 and 72 Months of Age Samango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman AL Am J Med Genet Part A (2014)
Expanding the Phenotypic Profile of Boys with XXY – Is it all about the X? Samango-Sprouse, C. A., Stapleton, E., Mitchell, F. L., Sadeghin, T., Donahue, T. P., Gropman, A. L. Am J Med Genet Part A (2014)
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations Gropman A, Samango-Sprouse CA Am J Med Genet C Semin Med Genet (2013)
Immunodeficiency in patients with 49,XXXXY chromosomal variation Keller MD, Sadeghin T, Samango-Sprouse C, Orange JS Am J Med Genet C Semin Med Genet (2013)
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. Prenat Diagn (2013)
Introduction: Past, present, and future care of individuals with XXY Samango-Sprouse CA, Gropman AL Am J Med Genet Part C Semin Med Genet (2013)
Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY? Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL Am J Med Genet Part C Semin Med Genet (2013)
Prenatal diagnosis and 47,XXY Simpson JL, Samango-Sprouse C Am J Med Genet C Semin Med Genet (2013)
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA Am J Med Genet C Semin Med Genet (2013)
Expanding the phenotypic profile of boys with XXY – is it all about the X? Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Gropman AL. J Intellect Disabil Res (2012)
Early Effects of Short Course Androgen Therapy on Children with 49, XXXXY Syndrome on Neurodevelopmental Profile Samango-Sprouse, CA; Gropman, A; Sadeghin, T; Kingery, M; Lutz-Armstrong, M; Rogol, A Acta Pædiatrica (2011)
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, Mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sprouse CA Am J Med Genet Part A (2010)
Expansion of the phenotypic profile of the young child with XXY Samango-Sprouse, CA Pediatr Endocrinol Rev (2010)
Klinefelter Syndrome Visootsak, Jeannie; Graham, John M., Samango-Sprouse, C., Swerdloff, R., Simpson, J.L Management of Genetic Syndromes (2008)
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome Zeger, M.P., Zinn, A.R., Lahou, N, Ramos, P, Kowal, K, Samango-Sprouse C., Ross J.L. Journal of Pediatrics (2008)
XXY (Klinefelter Syndrome): a Pediatric Quantitative Magnetic Resonance Imaging Study Giedd, Jay N., Clasen, L.S., Wallace, G.L., Molloy, E.A., Blumenthal, J.D., Nelson, J.E., Tossell, J.W., Staver, C., Samango-Sprouse, C.A. Pediatrics (2007)
Frontal Lobe Development in Childhood Samango-Sprouse, C.A The Human Frontal Lobe: Functions and Disorders (2007)
Puberty-related influences on brain development Giedd, JN, Clasen, LS, Lenroot, R, Greenstein, D, Wallace GL, Ordaz, S, Molloy, EA, Blementhal, JD, Tossell, JW, Stayer, C, Samango-Sprouse, CA, Shen, D, Davatzikos, C, Merke, D, and Chrousos, G. Molecular and Cellular Endocrinology (2006)
Autism, Developmental Dyspraxia and Technology: A Window of Opportunity Samango-Sprouse, Carole The Neurological Resource Center Newsletter (2006)
Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome Ross, Judith L., Samango-Sprouse, C.A., Lahlou, N., Kowal, N., Elder, F.F. Andrew, Zinn, R Hormone Research (2005)
Klinefelter Syndrome Simpson, J.L., Graham, J.M., Samango-Sprouse, C.A., Swerdloff, R Management of Genetic Syndromes (2005)
Androgen Receptor CAGn Repeat Length Influences Phenotype of 47XXY (Klinefelter) Syndrome Zinn, A. R., Ramos, P., Elder, F.F., Kowal, K., Samango-Sprouse, C., Ross, J.L. Journal of Clinical Endocrinology and Metabolism (2005)
Outcome Measures for Clinical Drug Trials in Autism Aman, M.G., Novotny, S., Samango-Sprouse C.A. et al. CNS Spectrums (2004)
Klinefelter Syndrome: Expanding the Phenotype and Identifying New Research Directions Simpson, J.L., De la Cruz, F., Swerdloff, R., Samango-Sprouse, C.A., et al Genetics in Medicine (2003)
XXY: The Hidden Disability and Prototype for Infantile Presentation of Developmental Dyspraxia (IDD) Samango-Sprouse, C.A., and Rogol, A Infants and Young Children (2002)
Further Characterization and Expansion and the Neurobehavioral Phenotype of Children with Sex Chromosome Variations. Samango-Sprouse, C.A., Tsang, T. and Huddleston, J The American Journal of Human Genetics (Abstract) (2002)
47,XXY, 47,XXX and 47, XYY: Hidden disabilities within the Speech and Language Community Aylstock, M. and Samango-Sprouse, C.A CSHA Magazine (2002)
A Genomewide Screen for Autism Suspectiblity Loci Liu, J., Nyholt, D., Magnussen, P., Parano, E., Geschwind, D. et al American Journal of Human Genetics (2001)
The Neurocognitive Profile of the Young Child with XXY Samango-Sprouse, C.A. European Journal of Human Genetics (2001)
The Mental Development in Polysomy X Klinefelter Syndrome (47 XXY; 48 XXXY): effects of Incomplete X-Activation The Mental Development in Polysomy X Klinefelter Syndrome (47 XXY; 48 XXXY): effects of Incomplete X-Activation Seminars of Reproductive Medicine (2001)
MR Imaging of the Corpus Callosum in Pediatric Patients with Neurofibromatosis- Type 1 Dubovsky, E.C. Booth, T.N., Vezina, G, Samango-Sprouse, C. Palmer, K.M. and Brasseux, C American Journal of Neuroradiology (2001)
Neurodevelopmental Evaluations of Newborns and Infants with Genetic Disorders Samango-Sprouse, C.A. Chromosome Deletion Outreach (2000)
Neurodevelopmental and Neuroimaging Correlates in Nonsyndromal Microcephalic Children Custer, D, Vezina, G, Vaught, D, Brasseux, C, Samango-Sprouse, CA, Cohen, M and Rosenbaum, K Developmental and Behavioral Pediatrics (2000)