CRC GENE DEVAL DISB PDF

Preface

Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities (DD) as well as the care of individuals with these disabilities should find this book useful. Interested individuals involved in the testing, care, and treatment of DD should include special educators, developmental specialists, nurses, occupational=physical therapists, speech pathologists, public health experts, psychologists, psychiatrists, geneticists and genetic counselors, child life experts, ethicists, social workers, and other health professionals. In addition, this book can be used as a resource for parents and other family members of individuals with DD and agencies involved in providing services.

The types and causes of DD are discussed including genetic and environmental factors and the ever-increasing knowledge of their interaction. The chapters are organized into sections to address genetics and related factors pertinent to the area of medical and clinical genetics. Specifically, genetic conditions with developmental disability as a major component will be addressed by different disciplines (neurology, developmental pediatrics, rehabilitation medicine, psychology, epidemiology, public and mental health experts, pharmacology, and ethics). Noted experts are utilized to address diagnostic testing, dual diagnoses, treatment approaches for related health and behavioral problems (e.g., autism, self-injurious behavior, attention deficit hyperactivity), special education, social services, early intervention programs, and counseling.

The opening chapters comprise a section that includes the history of mental retardation specifically addressing historical advances in genetics, patterns of inheritance and our understanding of the causes, diagnosis, and treatment of individuals with DD. The areas of genetics include basic mammalian genetics, multifactorial inheritance, molecular genetics, clinical cytogenetics and biochemical genetics as these areas relate to testing for DD. The Human Genome Project and how it relates to DD and mental retardation is also presented. Finally, examples of animal modeling using transgenic mice for certain disorders and especially Down syndrome are described in a separate chapter.

The second section presents, in separate chapters, examples of conditions with DD, including specific single gene and chromosome syndromes, microdeletion chromosome anomalies, fetal alcohol syndrome and environmental causation, expanded newborn screening and sporadic disorders. Genetic conditions that are classical and often under consideration by the clinical geneticist when evaluating individuals with DD are described including Prader–Willi syndrome, Angelman syndrome, Smith–Magenis syndrome, Williams–Beuren syndrome, 22q deletion syndrome (velo-cardio-facial syndrome), Rett syndrome, Down syndrome, sex chromosome aneuploidy, phenylketonuria, and fragile X syndrome, the most common cause of familial mental retardation.

The final section begins with a chapter that addresses the causes and prevalence of DD and recurrence risks. Chapters discussing aspects of neurogenetic disorders, cerebral palsy, behavioral genetics, and manifestations of certain conditions such as self-injurious behavior, attention deficit-hyperactivity, and autism are presented. The current treatment and diagnostic approach for children with DD are addressed, including the use of early intervention programs, complementary and alternative medical interventions, and use of computers to search for genes causing DD or mental retardation.

This text is intended to be read and used by all individuals interested in DD and the role of genetics in these conditions. References are cited for the reader interested in learning more about the information given and for those interested in pursuing the subject and related topics in more depth.