Our Research

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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.

Our Research - The Focus Foundation

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!

Our Research - The Focus Foundation

… 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
Our Research - The Focus Foundation

… 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.

TitleAuthorJournal (Year)
Chapter 35: 47,XXY (Klinefelter Syndrome) and related X and Y Chromosomal Conditions. Management of Genetic Syndromes. 4th EditionSamango-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 PerformanceSamango-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 EditionSamango-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.

TitleAuthorJournal (Year)
Detection of maternal X chromosome abnormalities using single nucleotide polymorphism based noninvasive prenatal testingMartin KA, Samango-Sprouse CA, Kantor V, et al.American Journal of Obstetrics and Gynecology 2020
Speech and Language Development in children with 49,XXXXY syndromeSamango-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 therapySamango-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 syndromeCounts DR, Yu C, Lasutschinkow PC, Sadeghin T, Gropman A, Samango-Sprouse CAAmerican Journal of Medical Genetics: Part A 2020
Behavioral Phenotype of 49,XXXXY Syndrome: Presence of Anxiety-Related Symptoms and Intact Social AwarenessLasutschinkow, 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 disorderSamango-Sprouse, C.; Lasutschinkow, P. C.; Mitchell, F.; Porter, G.; Hendrie, P.; Powell, S.; Sadeghin, T.; Gropman, AAmerican Journal of Medical Genetics: Part A 2020
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXYTosi 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,XXYSamango-Sprouse, C., Yu, C., Porter, G., Tipton, L., Lasutschinkow, P., Sadeghin, TCurrent 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,XXYSamango-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 therapySamango-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 IntelligenceKeen, 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. LMorgan & 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 SpeechSamango-Sprouse, Carole ; Lawson, P; Sprouse, C; Stapleton, E; Sadeghin, T; Gropman, AAm J Med Genet Part A. (2016)
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXXSamango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman AAm 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. LAutism (2014)
Positive Effects of Short Course Androgen Therapy on the Neurodevelopmental Outcome In Boys with 47, XXY Syndrome at 36 and 72 Months of AgeSamango-Sprouse CA, Sadeghin T, Mitchell FL, Dixon T, Stapleton E, Kingery M, Gropman ALAm 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 variationsGropman A, Samango-Sprouse CAAm J Med Genet C Semin Med Genet (2013)
Immunodeficiency in patients with 49,XXXXY chromosomal variationKeller 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 accuracySamango-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 XXYSamango-Sprouse CA, Gropman ALAm 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 ALAm J Med Genet Part C Semin Med Genet (2013)
Prenatal diagnosis and 47,XXYSimpson JL, Samango-Sprouse CAm J Med Genet C Semin Med Genet (2013)
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXYSprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CAAm 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 ProfileSamango-Sprouse, CA; Gropman, A; Sadeghin, T; Kingery, M; Lutz-Armstrong, M; Rogol, AActa Pædiatrica (2011)
Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndromeGropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, Jameson R, Mitchell F, Clabaugh J, Lutz-Armstrong M, Samango-Sprouse CAAm J Med Genet Part A (2010)
Expansion of the phenotypic profile of the young child with XXYSamango-Sprouse, CAPediatr Endocrinol Rev (2010)
Klinefelter SyndromeVisootsak, Jeannie; Graham, John M., Samango-Sprouse, C., Swerdloff, R., Simpson, J.LManagement of Genetic Syndromes (2008)
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndromeZeger, 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 StudyGiedd, 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 ChildhoodSamango-Sprouse, C.AThe Human Frontal Lobe: Functions and Disorders (2007)
Puberty-related influences on brain developmentGiedd, 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 OpportunitySamango-Sprouse, CaroleThe Neurological Resource Center Newsletter (2006)
Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter SyndromeRoss, Judith L., Samango-Sprouse, C.A., Lahlou, N., Kowal, N., Elder, F.F. Andrew, Zinn, RHormone Research (2005)
Klinefelter SyndromeSimpson, J.L., Graham, J.M., Samango-Sprouse, C.A., Swerdloff, RManagement of Genetic Syndromes (2005)
Androgen Receptor CAGn Repeat Length Influences Phenotype of 47XXY (Klinefelter) SyndromeZinn, 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 AutismAman, M.G., Novotny, S., Samango-Sprouse C.A. et al.CNS Spectrums (2004)
Klinefelter Syndrome: Expanding the Phenotype and Identifying New Research DirectionsSimpson, J.L., De la Cruz, F., Swerdloff, R., Samango-Sprouse, C.A., et alGenetics in Medicine (2003)
XXY: The Hidden Disability and Prototype for Infantile Presentation of Developmental Dyspraxia (IDD)Samango-Sprouse, C.A., and Rogol, AInfants 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, JThe American Journal of Human Genetics (Abstract) (2002)
47,XXY, 47,XXX and 47, XYY: Hidden disabilities within the Speech and Language CommunityAylstock, M. and Samango-Sprouse, C.ACSHA 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 XXYSamango-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-ActivationSamango-Sprouse, C.A.Seminars of Reproductive Medicine (2001)
MR Imaging of the Corpus Callosum in Pediatric Patients with Neurofibromatosis- Type 1Dubovsky, E.C. Booth, T.N., Vezina, G, Samango-Sprouse, C. Palmer, K.M. and Brasseux, CAmerican Journal of Neuroradiology (2001)
Neurodevelopmental Evaluations of Newborns and Infants with Genetic DisordersSamango-Sprouse, C.A.Chromosome Deletion Outreach (2000)
Neurodevelopmental and Neuroimaging Correlates in Nonsyndromal Microcephalic ChildrenCuster, D, Vezina, G, Vaught, D, Brasseux, C, Samango-Sprouse, CA, Cohen, M and Rosenbaum, KDevelopmental and Behavioral Pediatrics (2000)