Neurogenetic Developmental Disorders

Variation of Manifestation in Childhood
Overview

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.

Table of Contents

  1. Foreward
  2. Preface
  3. Acknowledgements
  4. I. COMMON GENETIC DISORDERS: WIDELY RANGING OUTCOMES FROM A SPECIFIC ETIOLOGY
  5. 1. Turner Syndrome in Childhood

    Marsha L. Davenport, Stephen R. Hooper, and Martha Zeger

  6. 2. Klinefelter Syndrome

    Judith L. Ross, Gerry A. Stefanatos, and David Roeltgen

  7. 3. Fragile X Syndrome: The Journey from Genes to Behavior

    Kimberly M. Cornish, Andrew Levitas, and Vicki Sudhalter

  8. 4. Duchenne Muscular Dystrophy

    Veronica J. Hinton and Edward M. Goldstein

  9. 5. Neurofibromatosis

    John M. Slopis and Bartlett D. Moore, III

  10. 6. Cognitive and Behavioral Characteristics of Children with Chromosome 22q11.2 Deletion Syndrome

    Tony J. Simon, Merav Burg-Malki, and Doron Gothelf

  11. 7. Williams Syndrome

    Carolyn B. Mervis and Colleen A. Morris

  12. II. COMPLEX ETIOLOGIES AND COMPLEX OUTCOMES
  13. 8. Congenital Hypothyroidism: Genetic and Biochemical Influences on Brain Development and Neuropsychological Functioning

    Joanne F. Rovet and Rosalind Brown

  14. 9. Inborn Errors of Metabolism

    Kevin M. Antshel and Georgianne Arnold

  15. 10. Neurodevelopmental Effects of Childhood Exposure to Heavy Metals: Lessons from Pediatric Lead Poisoning

    Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider, and John F.

  16. III. REACTIONS AND RESPONSES: BEYOND THE DIAGNOSIS
  17. 11. Beyond the Diagnosis: The Process of Genetic Counseling

    Allyn McConkie-Rosell and Julianne O'Daniel

  18. 12. From Diagnosis to Adaptation: Optimizing Family and Child Functioning When a Genetic Diagnosis Is Associated with Mental Retardation

    Laraine Masters Glidden and Sarah A. Schoolcraft

  19. 13. When a Genetic Disorder Is Associated with Learning Disabilities

    Michele M. M. Mazzocco

  20. 14. Early Intervention and Early Childhood Special Education for Young Children with Neurogenetic Disorders

    Deborah D. Hatton

  21. 15. The Individualized Education Program: Navigating the IEP Development Process

    Vicki Sudhalter

  22. Contributors
  23. Index