Dr. Sprouse's Book
The first book on X & Y Chromosomal Variations from Carole Samango-Sprouse and Andrea Gropman, two world renowned researchers. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression.
This book is available in paperback, hardcover, or eBook through most online retailers.
When ordered through the below link, add the promo code XYPARENT to the cart for a 25% discount.
The Focus Foundation
The Focus Foundation: The Focus Foundation, a not-for-profit organization that was founded in 2005 by Dr. Carole Samango-Sprouse, is the first and only research-based agency dedicated to identifying and helping children who have X & Y Chromosomal Variations, rare genetic disorders, Dyslexia, and/or Developmental Dyspraxia.
Parent to Parent programs offer parent to parent support as a core resource for families with children who have a special health care need, disability, or mental health issue. Through a one to one "match" experienced support parents provide emotional support to families and assist them in finding information and resources. Parent to Parent programs are committed to listening and learning from families and developing an array of services and supports in response to family identified needs.
Get support for you and your family:
Still not sure whether or not to get an evaluation?
Studies, Conferences and Events
The Focus Foundation’s Australian X and Y Chromosome Variation Clinic
April 10th, 2019 – April 15th, 2019
The Focus Foundation is thrilled to be bringing their team or specialists to Australia for the first time in April of 2019! This Australian conference will include specialist consultations with our team of X and Y Chromosome Specialists in Neurodevelopment, Neurogenetics, Endocrinology, PT, Immunology, Executive Functioning, Oral Motor and Speech and Language. There will also be an educational parent conference with our panel of specialists, and a medical professional conference day. We encourage all chromosome variations to sign up for both the specialist consultations and the educational conference. LINK for this registration: https://thefocusfoundation.org/event/australian-x-and-y-chromosome-clinic-and-conference/
The Focus Foundation’s 16th Annual 49ers Conference, focusing on 49, XXXXY.
July 10th - July 12th, 2019
Join our team of XY chromosomal specialists for our 16th Annual 49ers Conference, focusing on the 49, XXXXY child.
Comprehensive evaluations with Dr. Sprouse available July 8th, 9th, or 10th. Join us for a welcome reception for all families on Wednesday, July 10th at the Country Inn & Suites in Annapolis, Maryland. Clinic consultations with our entire team of specialists will take place on Thursday, July 11th. Our informative parent conference is scheduled for Friday, July 12th and will include lunch for those in attendance. For more information on this conference and how you can register, please visit https://thefocusfoundation.org/event/16th-annual-49er-conference/.
Please check back for information about these and other conferences and events.
Samango-Sprouse, C., Chea, S., Sadeghin, T., Gropman, A. 2018. Exploring the impact of hormonal replacement therapy (HRT) on Working Memory Outcomes in Boys with 47, XXY (KS). In submission.
Samango-Sprouse, C., Lasutschinkow, P., Gropman, A., Perez, C., Sadeghin, T., 2018. The impact of testosterone replacement therapy (TRT) on anxiety disorders in 47, XXY (KS). In submission.
Samango-Sprouse, C., Stapleton, E.J., Chea, S., et al. 2018. International Investigation of Neurocognitive and Behavioral Phenotype in 47,XXY(Klinefelter syndrome): Predicting Individual Differences. American Journal of Medical Genetics Part A. 2018;1-9, https://doi.org/10.1002/ajmg.a.38621.
Samango-Sprouse, C., Keen, C., Sadeghin, T., Gropman, A. The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome) Prenatal Diagnosis, May 2017; 37(5):497-501.
Keen, C. Samango-Sprouse, C. Dubbs, H. Zackai, E.10-year-old Female with Intragenic KANSL1 Mutation, no KANSL1-related Intellectual Disability, and Preserved Verbal Intelligence. American Journal of Medical Genetics Part A. February, 2017
Samango-Sprouse, C; Hall, MP; Kırkızlar, E; Curnow, K; Demko, Z; Lawson, P; Gross,S; Gropman, A. Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. Public Library of Science (Plos ONE), 11(8), 1-11. doi:10.1371/journal.pone.0161045. April 2016
Samango-Sprouse, C., Lawson, P; Sprouse, C; Stapleton, E; Sadeghin, T; Gropman, A.. Expanding the Phenotypic Profile of Kleefstra Syndrome: A Female with low-average Intelligence and Childhood Apraxia of Speech. Am J Med Genet Part A, 170(5), 1312, doi:10.1002/ajmg.a.37575.
Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A. 2015. Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. Am J Med Genet Part A 9999A:1–9.
Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL. 2015. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet Part C 169C:150–157.
Samango-Sprouse, C. A., Stapleton, E., Mitchell, F. L., Sadeghin, T., Donahue, T. P., Gropman, A. L. Expanding the Phenotypic Profile of Boys with XXY – Is it all about the X?, Am J Med Genet Part A. 2014 Jun;164(6):1464-9. doi: 10.1002/ajmg.a.36483. Epub 2014 Apr 8.
Samango-Sprouse, C. A., Stapleton, E., Aliabadi, F., Graw, R., Vickers, R., Haskell, K., Sadeghin, T., Jameson, R., Parmele, C. L., Gropman, A. L. Early Identification of Infants and Toddlers At Risk for Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD), Autism, 1362361314521329, first published on February 18, 2014
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20.
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.
Samango-Sprouse CA, Gropman AL. 2013. Introduction: Past, present, and future care of individuals with XXY. Am J Med Genet Part C Semin Med Genet 163C:1–2.
Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. 2013. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet Part C Semin Med Genet 163C:44–49.
Gropman A, Samango-Sprouse CA. 2013. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet Part C 163C:35–43.
Simpson, J.L., & Samango-Sprouse, C. (2013, February). Prenatal diagnosis and 47, XXY. American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 163, No. 1, pp. 64-70). Wiley Subscription Services, Inc., A Wiley Company.
Samango-Sprouse, CA; Sadeghin, T; Mitchell, FL; Dixon, T; Stapleton, E; Kingery, M; and Gropman, AG. 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: 10.1002/ajmg.a.35769. October, 2012
Samango-Sprouse CA, Stapleton EJ, Mitchell FL, Sadeghin T, Gropman AL. 2012. Expanding the phenotypic profile of boys with XXY - is it all about the X? Oral Abstracts. J Intellect Disabil Res 56:927.
Rebecca E. Rosenberg, J. Kiely Law, Connie Anderson, Carole Samango-Sprouse and Paul A. Law. Survey of Vaccine Beliefs and Practices Among Families Affected by Autism Spectrum Disorders. CLIN PEDIATR published online 2 March 2012. http://cpj.sagepub.com/content/early/2012/02/22/0009922812438435.citation
Samango-Sprouse, CA . Explaining the phenotype of Trisomy X is available on the National Organization for Rare Disorders (NORD) website
Samango-Sprouse, CA. Sex Chromosome Disorders: A Very Common but Rarely Diagnosed Disorder appeared as a Special Feature May/June 2011 in the online NeuroDevelopmental Treatment Association (NDTA) website.
Samango-Sprouse, CA; Gropman, A; Sadeghin, T; Kingery, M; Lutz-Armstrong, M; Rogol, A. Early Effects of Short Course Androgen Therapy on Children with 49, XXXXY Syndrome on Neurodevelopmental Profile. Acta Pædiatrica May 2011.
Samango-Sprouse, CA. Expansion of the phenotypic profile of the young child with XXY. Pediatr Endocrinol Rev 2010 Dec; 8 Suppl 1: 160-8
Gropman, A., Rogol, A., Fennoy, I., Sadeghin, T., Sinn, S., Jameson, R., Mitchell F., Clabaugh, J., Lutz-Armstrong, M., and Samango-Sprouse, C.A. Clinical Variability and Novel Neurodevelopmental Findings in 49, XXXXY. American Journal of Medical Genetics. Vol. 152A, No. 6. June 2010.
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. “XXY (Klinefelter Syndrome): a Pediatric Quantitative Magnetic Resonance Imaging Study” Pediatrics 2007.
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. “Puberty-related influences on brain development.” Molecular and Cellular Endocrinology, Volumes 254-255, pages 154-162, 25 July 2006.
Samango-Sprouse, Carole. Autism, Developmental Dyspraxia and Technology: A Window of Opportunity The Neurological Resource Center Newsletter, July 2006.
Zinn, Andrew R., Ramos, P., Elder, F.F., Kowal, K., Samango-Sprouse, C.A., Ross, J.L. “Genetic Factors in Klinefelter Syndrome; Androgen Receptor CAG Repeat Length Influences Phenotype of 47XXY (Klinefelter Syndrome).” J Clin Endo Metab Sept:90 (9):5042-6, 2005.
Ross, Judith L., Samango-Sprouse, C.A., Lahlou, N., Kowal, N., Elder, F.F. Andrew, Zinn, R. “The Phenotype of Early Androgen Deficiency in Young Boys with 47,XXY Klinefelter Syndrome” Hormone Research (in press 2005)
Aman, M.G., Novotny, S., Samango-Sprouse C.A. et al. “Outcome Measures for Clinical Drug Trials in Autism.” CNS Spectrums Vol. 9, No. 1. January 2004.
Simpson, J.L., De la Cruz, F., Swerdloff, R., Samango-Sprouse, C.A., et al. “Klinefelter Syndrome: Expanding the Phenotype and Identifying New Research Directions." Genetics in Medicine. Vol. 5, No. 6. November/December 2003.
Samango-Sprouse, C.A., Tsang, T. and Huddleston, J. “Further Characterization and Expansion and the Neurobehavioral Phenotype of Children with Sex Chromosome Variations." The American Journal of Human Genetics (Abstract). Vol. 17, No. 4. October 2002.
Samango-Sprouse, C.A., and Rogol, A. “XXY: The Hidden Disability and Prototype for Infantile Presentation of Developmental Dyspraxia (IDD).” Infants and Young Children. July 2002.
Aylstock, M. and Samango-Sprouse, C.A. “ 47,XXY, 47,XXX and 47, XYY: Hidden disabilities within the Speech and Language Community” CSHA Magazine, Vol.31, No.2, pp18- 21.
Liu, J., Nyholt, D., Magnussen, P., Parano, E., Geschwind, D. et al. “ A Genomewide Screen for Autism Suspectiblity Loci” American Journal of Human Genetics Vol.69: 327-340, July 2001.
Samango-Sprouse, C.A. “The Neurocognitive Profile of the Young Child with XXY,” The European Journal of Human Genetics Volume 9, Supplement 1, May 2001. p.193.
Samango-Sprouse, C.A. “The Mental Development in Polysomy X Klinefelter Syndrome (47 XXY; 48 XXXY): effects of Incomplete X-Activation” Seminars of Reproductive Medicine Vol 19 (No.2) 193-202. June 2001
Dubovsky, E.C. Booth, T.N., Vezina, G, Samango-Sprouse, C. Palmer, K.M. and Brasseux, C. “MR Imaging of the Corpus Callosum in Pediatric Patients with Neurofibromatosis- Type 1” American Journal of Neuroradiology, Vol.22, January, 2001,
Samango-Sprouse, CA “ Neurodevelopmental Evaluations of Newborns and Infants with Genetic Disorders” Chromosome Deletion Outreach, Fall, 2000.
Custer, D, Vezina, G, Vaught, D, Brasseux, C, Samango-Sprouse, CA, Cohen, M and Rosenbaum, K “ Neurodevelopmental and Neuroimaging Correlates in Nonsyndromal Microcephalic Children” Developmental and Behavioral Pediatrics Vol. 21.No. 1, February 2000.
Samango-Sprouse, CA “The Hidden Disability; The Child with XXY (Klinefelter Syndrome) The AHEIBBI Newsletter, Winter, 1999.
Samango-Sprouse, CA “Autism: The Disorder of Extremes” The AHEIBBI Newsletter, Spring, 1998.
North K, Samango-Sprouse CA, Riccardi V, Legius E, Moore B, Ratner N, Denkla M. “Cognitive Function and academic performance in NF - 1” Neurology, 1997, Vol.5, No.1, 1997.
Samango-Sprouse, CA, Suddaby, E. “Developmental Concerns in Children with Congenital Heart Disease: New Insights” Current Opinion in Cardiology (Pediatrics) Vol. 12 NO. 1 January 1997.
Suddaby EC, Samango-Sprouse CA, Vaught DR, Custer DA, "Neurodevelopmental Outcome of Infant Cardiac Transplant Recipients, Journal of Transplant Coordination, 1995.
Samango-Sprouse, CA: "NF-1, MRI and developmental disabilities". Neurofibromatosis Ink Vol. 7, NO.2 1995.
Samango-Sprouse, CA: "Infant disorders help evaluators map crossroads of genetics and behavior", The Brown University Child and Adolescent Behavior Letter, Vol. ll, No. 9 September 1995.
Cohen MS, Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ, Rosenbaum KN: "Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral Spectrum and the correlation of prognosis with physical findings". Americana Journal of Medical Genetics (Neuropsychiatric Genetics) 60:535-540 1995.
Samango-Sprouse CA, Saal HM, Stern HJ, Rosenbaum KN." The neurodevelopmental profile if infants and toddlers with Neurofibromatosis Type - l" Developmental Medicine and Child Neurology. 1995.
Vezina GL, Samango-Sprouse CA, Cohen MS, Fitz CR, Mott SH, Brasseau CO, Tifft CJ. Stern HJ, Rosenbaum KN: "Cranial magnetic resonance imaging (MRI) findings and their relationship to age and sexual maturation in neurofibromatosis Type - l". American Journal of Human Genetics, 55(3) 21 supplement, 1994.
Custer DA, Vezina LG, Vaught DR, Samango-Sprouse CA, Brasseux C, Cohen MS, Rosenbaum KN: Neuroimaging and neurocognitive findings in nonsyndromal young children with absolute microcephaly." Thirteenth Biennial Conference on Human Development, Pittsburgh Pa, April 14-16 1994.
Mott SH, Samango-Sprouse CA, Vezina LD, Tifft CJ, Stern HJ, Saal HM, Packer RJ, Rosenbaum KN: "Neurofibromatosis Type l (NF-l): Correlates between neurodevelopmental profile, hypotonia and findings in magnetic resonance imaging (MRI) in young children." American Academy of Neurology meeting, 1994.
Powell CM, Stanley WS, Divine GC, Samango-Sprouse CA, Ellingham TJ, Vaught DR, Murphy BA, Rosenbaum KN: "Mosaic tetrasomy 5p: a new mosaic segmental aneusomy syndrome confirmed by FISH." Annual March of Dimes Birth Defects Meeting, 1992.
Saal HM, Traboulsi EI, Gavaris P, Samango-Sprouse CA, Parks M: "Dominant Syndrome With Isolated Cryptophthalmos and Ocular Anomalies," American Journal of Medical Genetics 43, 1992.
Samango-Sprouse CA, Saal HM, Rosenbaum KN, Stern HJ; "Central Nervous System and Developmental Anomalies in Hemifacial Microsomia". The American Journal of Human Genetics, 49(4): 161; supplement, 1991.
Rosenbaum KN, Boyajian M, Samango-Sprouse CA, "Accessory ectopic cervical thymus with lip psuedoclefts: Further confirmation of a new syndrome." The American Journal of Human Genetics, 49(4): 160; supplement, 1991.
Stern H, Rodnan L, Samango-Sprouse CA, "A new syndrome of craniofacial malformation, tracheomalacia, pectus deformity, hypotonia and severe mental retardation in two male siblings.” The American Journal of Human Genetics, 49(4):166; supplement, 1991.
Saal HM, Johnson RC, Zimmerman D, King LJ, Carr AG, Samango-Sprouse CA and Stanley W, “Loss of the N-MYC Oncogene in a Patient with an Interstitial Deletion of the Short Arm of Chromosome 2.” 1990.
Stern HS, and Samango-Sprouse CA, "Fetal Valproate Syndrome from Minimal Inutero Exposure to Valproic Acid" Pediatric Research, 25(4); l989.
Samango-Sprouse C, Rosenbaum K, Rodnan L, Saal H, and Stern H: The incidence of developmental disabilities in infants and toddlers with von Recklinghausen neurofibromatosis. American J. Human Genetics 43S:A68, 1988.
Conry JA, Bock GH, Ruley EJ, Samango-Sprouse CA, Weiss I, Eng G, Conner K, Johnson EI: Predictors of cognitive performance in infants with chronic renal failure. Neurology 20:413, 1986.
Bock GH, Conner K, Ruley J, Samango-Sprouse CA, Conry JA, Eng G, Johnson EI, and David, Christopher: Disturbances of brain maturation and neurodevelopment during chronic renal failure in infancy. Journal of Pediatrics, 11:231-8, 1986.
Samango-Sprouse, CA, "The Developmental/Educational Professional in a Private Office Setting," Clinical Proceedings, 39(3); May/June, l983.
Samango-Sprouse, CA, "Growth, Development and Nutrition", Handbook designed for Pediatric Residents, January, 1982