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Neurogenetic Developmental Disorders Variation of Manifestation in Childhood Edited by Michèle M. M. Mazzocco and Judith L. Ross With contributions by Kevin M. Antshel, Georgianne Arnold, Rosalind Brown, Merav Burg-Malki, Kimberly M. Cornish, Marsha L. Davenport, Laraine Masters Glidden, Edward M. Goldstein, Doron Gothelf, Deborah D. Hatton, Agnes T. Heaney, Veronica J. Hinton, Stephen R. Hooper, Andrew Levitas, Theordore I. Lidsky, Michèle M. M. Mazzocco, Allyn McConkie-Rosell, Carolyn B. Mervis, Bartlett D. Moore III, Colleen A. Morris, Julianne O'Daniel, David Roeltgen, John F. Rosen, Judith L. Ross, Joanne F. Rovet, Jay S. Schneider, Sarah A. Schoolcraft, Tony J. Simon, John M. Slopis, Gerry A. Stefanatos, Vicki Sudhalter and Martha Zeger  Table of Contents and Sample ChaptersGenetic disorders in children can have highly variable effects. Even relatively common disorders may go undiagnosed and untreated by clinicians who are not familiar with the range of atypical cognitive or behavioral symptoms possible in an affected child. Recent research in genetics and brain development has altered the phenotypic description of various disorders, but this new knowledge is not readily available to practitioners. This collection provides a single resource that will help clinicians, pediatricians, neuropsychologists, educators, and others use the latest research to identify and treat a variety of genetic disorders as early as possible. The chapter authors report on the full range of phenotypes, including subtle or atypical variants, for each disorder. They describe disorders that have wide-ranging cognitive phenotypes and a well-understood genetic etiology (including Fragile X, Turner, and Klinefelter syndromes), discussing the genotype that leads to the syndrome, the medical implications, and the behavioral or psychological consequences. The chapter authors also report on more complex categories of etiologies, including congenital hypothyroidism and metabolic disorders, the genetic components of which are not completely understood. Finally, they go beyond diagnosis, discussing genetic counseling, family adaptation, and early intervention options for the preschool- and school-age years. About the Editors Michèle M. M. Mazzocco is Associate Professor of Psychiatry at Johns Hopkins School of Medicine and the Principal Investigator for the Math Skills Development Project at the Kennedy Krieger Institute in Baltimore. Judith L. Ross is Professor in the Departments of Pediatrics and Medicine and Chief of the Division of Pediatric Endocrinology at Thomas Jefferson University in Philadelphia. See Other Titles In:
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