X and Y Chromosomal Variations

This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. 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 will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs’ syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.

Dr. Samango-Sprouse is an associate clinical professor of pediatrics at the George Washington University and is an Adjunct Associate Professor in the Department of Human and Molecular Genetics at Florida International University. Dr. Samango-Sprouse is currently the Director of the Neurodevelopmental Diagnostic Center for Children and the Executive Director and Chief Science Officer of The Focus Foundation. She received her doctorate from George Washington University in Washington, DC and then studied neurobehavioral assessment at the Children's Hospital of Boston with Dr. Heidelise Als, a developmental psychologist and renown Harvard University scholar. She is trained in neuromotor and neurocognitive development, neurobehavioral skills and oral motor assessment for children with an emphasis on children with neurogenetic disorders. She is trained in Bobath neurodevelopmental training (NDT), and is certified in the assessment of pre-term infant behavior (APIB), the Brazelton Neonatal Assessment Scale (BNABS), and the Autism Diagnostic Observation Scale -2 (ADOS-2). Dr. Samango-Sprouse's research focuses on the intersection between brain, behavior, and neurodevelopmental outcome in children with genetic disorders. She writes about the diverse and complex relationship between brain function secondary to genetic disorders and how to develop targeted treatment programs that optimize competency and recovery. Dr. Samango-Sprouse has published more than 90 articles on children with neurogenetic disorders, published numerous chapters on the frontal lobe, 47, XXY, and computer-assisted evaluations for children with ASD. She has been guest editor of the American Journal of Medical Genetics, Part C and is on the Board of the Journal of Integrative Psychology and Therapeutics, the Editorial Board of BioMed Research International-pediatrics, and the Editorial Board of Advances in Endocrinology. She is an invited grants reviewer for the March of Dimes, the International Rhett Syndrome Foundation (IRSF), Scientific Review Board, and Autism Speaks. She is an invited reviewer for Pediatrics, American Journal of Medical Genetics, Journal of Neuropsychology, Gene, Brain and Behavior, and Scientific Reports, among other scientific journals. In addition, she has had stories in the New Yorker, Washington Post, Psychology Today, and has been interviewed by NBC and Fox news. Dr. Samango-Sprouse believes that a family-centered approach is critical to optimize a child's recovery. "Parents must be empowered with information about their child's medical disorder, and how that condition will impact their child's learning and intellectual performance," she says. "When parents are armed with the timely and accurate information, they can advocate for a syndrome-specific and targeted program to optimize recovery and produce an ideal outcome for the child and the family." Dr. Andrea Gropman is a Professor of Neurology and Pediatrics at the George Washington Medical School and Health Sciences Center. She is also Chief of Neurogenetics and Neurodevelopmental Pediatrics and attending neurologist at the Children's National Medical Center in Washington, D.C. She is an expert and consultant in the Medical Genetics Branch at the National Human Genome Research Center at the National Institutes of Health, Bethesda, M.D. She received a B.A. in biology and biochemistry from Brandeis University, and an M.D. from the University of Massachusetts Medical School where she received a Hewlett Packard Top Scholar Award. She subsequently trained in pediatrics at the Johns Hopkins Hospital in Baltimore, M.D., Neurology/Child Neurology at George Washington University, and the Children's National Medical Center in Washington, D.C., and Genetics and biochemical genetics at the National Institutes of Health. She is board certified in pediatrics, neurology with special competence in child neurology, developmental disabilities, genetics, and biochemical genetics. She divides her time between clinical activities in neurology and neurogenetics at both Children's National and the NIH where she works on various metabolic protocols and the Undiagnosed diseases program. Dr. Gropman has cared for children with X and Y chromosomal disorders for more than 15 years. She is an active participant in the development of study protocols, specialty clinics for variant XY chromosomal disorders, and research with all children with X and Y chromosomal disorders. She serves on a number of scientific advisory committees and review groups at the institutional, governmental, and national level. Her research focuses on neuroimaging in the urea cycle disorders and other inborn errors of metabolism that affect brain function as she hopes to use the information from this research to identify early markers of neurological damage from metabolic conditions and develop novel therapies.