Neurogenetic Developmental Disorders
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From Issues in Clinical and Cognitive Neuropsychology

Neurogenetic Developmental Disorders

Variation of Manifestation in Childhood

Edited by Michèle M Mazzocco and Judith Ross

A reference to guide clinicians, researchers, teachers, and parents in identifying a range of genetic disorders despite widely variable cognitive, behavioral, and physical effects.

Overview

Author(s)

Summary

A reference to guide clinicians, researchers, teachers, and parents in identifying a range of genetic disorders despite widely variable cognitive, behavioral, and physical effects.

Genetic 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.

Hardcover

Out of Print ISBN: 9780262134804 524 pp. | 9 in x 7 in illus.44 ills/18 tables

Editors

Michèle M Mazzocco

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 Ross

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.