Neurogenetic developmental disorders: variation of manifestation in childhood

Michèle M. M. Mazzocco, Judith L. Ross0262134802, 9780262134804, 9781429477154

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.

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Table of contents :
Cover……Page 1
Contents……Page 7
Foreword……Page 9
Preface……Page 12
Acknowledgments……Page 14
I COMMON GENETIC DISORDERS: WIDELY RANGING OUTCOMES FROM A SPECIFIC ETIOLOGY……Page 15
1 Turner Syndrome in Childhood……Page 16
2 Klinefelter Syndrome……Page 59
3 Fragile X Syndrome- The Journey from Genes to Behavior……Page 85
4 Duchenne Muscular Dystrophy……Page 116
5 Neurofibromatosis……Page 143
6 Cognitive and Behavioral Characteristics of Children with Chromosome 22q11.2 Deletion Syndrome……Page 172
7 Williams Syndrome……Page 208
II COMPLEX ETIOLOGIES AND COMPLEX OUTCOMES……Page 272
8 Congenital Hypothyroidism: Genetic and Biochemical Influences on Brain Development and Neuropsychological Functioning……Page 273
9 Inborn Errors of Metabolism……Page 304
10 Neurodevelopmental E¤ects of Childhood Exposure to Heavy Metals:Lessons from Pediatric Lead Poisoning……Page 342
III REACTIONS AND RESPONSES: BEYOND THE DIAGNOSIS……Page 371
11 Beyond the Diagnosis: The Process of Genetic Counseling……Page 372
12 From Diagnosis to Adaptation: Optimizing Family and Child Functioning When a Genetic Diagnosis Is Associated with Mental Retardation……Page 395
13 When a Genetic Disorder Is Associated with Learning Disabilities……Page 418
14 Early Intervention and Early Childhood Special Education for Young Children with Neurogenetic Disorders……Page 440
15 The Individualized Education Program: Navigating the IEP Development Process……Page 473
Contributors……Page 495
Index……Page 498