Preventive Health Care for Children with Genetic Conditions

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

• A compendium of clinical guidance and checklists to provide a structured approach to care for these children • Emphasis on preventive management of medical complications • Supported by key literature and web resources, suitable for professionals and parents

Contents

• Preface;
• Part I. Approach to the Child with Special Needs: 1. Approach to the child with genetic disease; 2. Providing a primary care medical home for the child with developmental disability; 3. Approach to preventive management;
• Part II. The Management of Selected Single Congenital Anomalies and Associations: 4. Congenital anomalies associated with developmental disability; 5. Single anomalies, sequences and associations; 6. Teratogenic syndromes;
• Part III. Chromosomal Syndromes: 7. Autosomal aneuploidy syndromes; 8. Sex chromosome aneuploidy and X-linked mental retardation; 9. Chromosome microdeletion syndromes;
• Part IV. Syndromes Remarkable for Altered Growth: 10. Syndromes with proportionate growth failure as a primary manifestation; 11. Syndromes with disproportionate growth failure; 12. Overgrowth syndromes; 13. Hamartosis syndrome;
• Part V. Management of Craniofacial Syndromes: 14. Craniosynostosis syndromes; 15. Branchial arch and face/limb syndrome;
• Part VI. Management of Connective Tissue and Integumentary Syndromes: 16. Connective tissue disorders; 17. Integumentary syndromes;
• Part VII. Management of Neurologic and Neurodegenerative Syndromes: 18. Neurologic syndromes including the arthrogryposes;
• Part VIII. Management of Neurodegenerative Metabolic Disorders; 19. Organellar and miscellaneous neurodegenerative disorders; 20. Metabolic dysplasias susceptible to dietary treatment;
• References;
• Index.