Frequently Asked Questions Links Studies Articles by Dr. Sprouse Frequently Asked Questions (FAQ) 1) What is a neurodevelopmental evaluation at NDC for Young Children? This is a comprehensive evaluation of all brain systems including neuromotor, perception, learning, attention, speech, language, motor planning and cognition in order to determine the appropriate types and frequency of therapeutic interventions. 2) What is the purpose of the neurodevelopmental evaluation? The purpose is to understand how the child’s brain functions and to create early intervention strategies, therapeutic services and developmental activities to optimize the child’s learning and educational success. 3) Should all children with SCV have neurodevelopmental evaluations? Yes, children with SCV have a significantly increased risk for developmental dyspraxia and language based learning disabilities (80%-100%). This includes speech and language problems, dyslexia, written composition problems, auditory processing deficits, and possible secondary behavioral problems. 4) What are syndrome-specific neurodevelopmental activities? Syndrome-specific activities are developed based on brain, behavior and the neurogenetic disorder in addition to the child’s strengths and weaknesses. Syndrome-specific goals and objectives recognize that each child’s neurogenetic disorder must be considered in the development of his or her IFSP and IEP in order to optimize success. 5) What is Developmental Dyspraxia? Developmental Dyspraxia is a developmental disorder, which affects boys more often than girls (4:1). Developmental dyspraxia is difficulty in motor planning an action, a sound or a word. Motor planning deficits may include difficulty identifying the action, planning the action or executing the action. It may include some or all of these aspects. Children with Developmental Dyspraxia may have problem in any type of voluntary motor action such as speaking, running, jumping, eating or swallowing. 6) Do children with SCV have an increased incidence of developmental dyspraxia? Yes, Dr. Samango-Sprouse’s article in Infants and Young Children (July 2002) and CASHA (Winter, 2002) describe an increased incidence of 80% of developmental dyspraxia in children with SCV who are diagnosed through prenatal testing. 7) Is Developmental Verbal Dyspraxia (DVD) the same as Developmental Dyspraxia? No, DVD is primarily a motor planning deficits in oral motor or speech output. Although it is not well studied in research literature, many children with DVD have associated motor planning deficits in gross and fine motor. So many children with DVD actually have developmental dyspraxia. 8) Do you accept insurance? An evaluation at NDC for Young Children is “Fee for Service” so we do not accept insurance. You will be expected to pay the entire fee at the time of evaluation. You will receive an itemized bill and a detailed explanation of all the testing which was completed. You should send the bill and letter of explanation to your insurance carrier in order to obtain reimbursement. 9) Can you help us with insurance difficulties? Yes, Teresa Sadeghin, administrative assistant at NDC for Young Children will assist you with these matters. We cannot guarantee that you will receive reimbursement. We will try within reason to assist you with these insurance issues. 10) Can we videotape your assessment? Yes, as long as it is not disruptive to the testing or affects your child’s attention or performance. 11) Can we audiotape the visit? Yes and this is rarely disruptive to the child’s performance. 12) How long does a typical evaluation last for a child? The length of evaluation is dependent on the age of your child. Children under 3 years: It is one visit with tests for one and half-hours to two hours. ($600 fee) Children between 3 and 5 years: There are two sessions. Each session lasts one and half to two hours each. ($1200 fee) Children between 5 and 8 years: There are three sessions. Each session lasts one and half to two hours. ($1800 fee) Children between 8 and 12 years: There are four sessions. Each session lasts one and half to two hours. ($2400 fee) 13) How can you test an infant with SCV? There are now well developed standardized assessments to evaluate an infant’s neurobehavioral organization state control and modulation and neurodevelopmental performance. Dr. Samango-Sprouse is skilled in observing and summarizing the child’s unique learning style to optimize his or her developmental outcome. She is considered an expert in neurogenetic disorders like SCV. 14) How long is the typical report on a child with SCV? The length of the report varies with each age, his or her skills and the disorder. Typically the report is five to six pages for children under three years of age. The report is approximately six to ten pages for children who are between three and five years of age. The report is eight to twelve pages for children who are more than five years of age. To Top Links Cure Autism Now (CAN) <http://www.cureautismnow.org> American Association for Klinefelter Syndrome Information and Support (AAKSIS) <http://www.aaksis.org> Knowledge Support and Action (KS&A) <http://www.genetic.org> To Top Studies New Clinical Trial Concerning Early Androgen Treatment of 47,XXY Dr. Judith Ross, a pediatric endocrinologist at Thomas Jefferson University in Philadelphia and Dr. Carole Samango-Sprouse, a neurodevelopmental specialist in Davidsonville, MD are currently recruiting subjects for a study involving the use of physiologic doses of androgen replacement in 47,XXY boys between the ages of 4 and 12. An abstract of the study follows: Klinefelter syndrome (KS), a genetic disorder that occurs in 1/1000 males, is defined by the abnormal chromosome karyotype 47,XXY (extra X chromosome), and has characteristic physical and cognitive phenotypes evident in childhood. The KS physical phenotype includes testicular failure (androgen deficiency) and tall stature. The KS neurocognitive phenotype includes diminished motor function and language-based learning difficulties. The KS behavioral phenotype involves poor self-image and shyness. The neurodevelopmental deficits associated with KS likely reflect the influence of both androgen deficiency and genetic factors on development and represent a major impediment for living a normal life with KS. It is the goal of this clinical trial to determine whether this burden can be reduced by treatment early in childhood with androgen replacement. Androgen replacement is standard in adolescent and adult KS males, but has not been used in younger, prepubertal KS boys. The Phase I study will establish that the androgen oxandrolone, an FDA-approved medication for children, is also safe in prepubertal KS boys. The Phase II study is the randomized clinical trial, in which we plan to study the effects of childhood androgen replacement on motor and cognitive aspects of the KS phenotype that may result from childhood androgen deficiency. This randomized, placebo-controlled study tests a novel intervention in this population: low-dose androgen (oxandrolone) treatment for two years in KS boys (n=120), ages of 4-12 years. We predict that KS boys treated with androgen for 24 months will have improved muscle strength, compared to the placebo-treated KS boys. Second, we predict that KS boys treated with androgen for 24 months will have improved aspects of motor function including response speed, simple repetitive movement, and complex nonrepetitive motor action, compared to the placebo-treated KS boys. Third, we predict that KS boys treated with androgen (oxandrolone) for 24 months will have improved aspects of language, including verbal memory and verbal fluency; and fourth, we predict that KS boys treated with androgen for 24 months will have improved aspects of simple and complex attention, compared to the placebo-treated KS boys. RELEVANCE OF THIS RESEARCH: KS is well suited for interventional studies because testicular failure is nearly universal in this disorder. Early androgen replacement is a reasonable, appropriate, and safe research treatment option in this androgen-deficient population. Therapeutic interventions for this relatively common disorder have not been forthcoming, and this proposal represents a unique opportunity to replace a missing hormone and potentially improve motor function and cognition. If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. The study is free to research subjects, will take place in Philadelphia, and includes transportation and hotel. If you are interested in learning more about participating in this research, please contact Dr. Ross directly. Her contact information appears below: Judith L. Ross, M.D. Professor, Department of Pediatrics Thomas Jefferson University 1025 Walnut St., Suite 726 Phila, PA 19107 Phone: 215-955-1648 FAX: 215-955-1744 e-mail: Judith.Ross@mail.tju.edu To Top Articles authored by Dr. Sprouse: 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. 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 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. Ross, Judith L., Samango-Sprouse, C.A., Lahlou, N., Kowal, N. , Elder, F.F. Andrew, Zinn, R. “Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome” Hormone Research 2005; 64(1):39-45. Samango-Sprouse, C.A. “Frontal Lobe Development in Childhood.“ The Human Frontal Lobe: Functions and Disorders, Eds. BL Miller, and JL Cummings, Guilford Press, New York, 1999. Samango-Sprouse, C.A. “Frontal Lobe Development in Childhood.“ The Human Frontal Lobe: Functions and Disorders, 2nd Edition, Eds. BL Miller, and JL Cummings, Guilford Press, New York, 2007. Samango-Sprouse, C.A. “Neurodevelopmental Evaluations of Newborns and Infants with Genetic Disorders” Chromosome Deletion Outreach, Fall 2000. Samango-Sprouse, C.A. “Autism: The Disorder of Extremes” The AHEIBBI Newsletter. Spring 1998. 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. 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., and Rogol, A. “XXY: The Hidden Disability and Prototype for Infantile Presentation of Developmental Dyspraxia (IDD).” Infants and Young Children. July 2002. 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. 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. Simpson, J.L., Graham, J.M., Samango-Sprouse, C.A., Swerdloff, R. "Klinefelter Syndrome." Management of Genetic Syndromes, 2nd Edition Eds. Cassidy, S.B., Allanson, J.E. Wiley-Liss, Inc. 2005. Zinn, A. R., Ramos, P., Elder, F.F., Kowal, K., Samango-Sprouse, C., Ross, J.L. “Androgen Receptor CAGn Repeat Length Influences Phenotype of 47XXY (Klinefelter) Syndrome.” Journal of Clinical Endocrinology and Metabolism 2005 Sep; 90(9):5041-6. “First Signs” An Educational Video on Autism, Clinical and Production Consultant, in collaboration with Nancy Wiseman, Founder and President of First Signs, Inc.