Preventive Health Care for Children with Genetic Conditions: Providing a Primary Care Medical Home / Edition 2

by Golder N. Wilson, W. Carl Cooley

Overview

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.

Product Details

ISBN-13:	9780521617345
Publisher:	Cambridge University Press
Publication date:	05/11/2006
Edition description:	REV
Pages:	582
Product dimensions:	6.85(w) x 9.72(h) x 1.06(d)

About the Author

Wilson, Golder N., MD, PhD (Univ of Texas Southwestern Medical Center at Dallas); Cooley, W. Carl, MD (Dartmouth-Hitchcock Medical Center)

Table of 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.

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: This is an update of the authors' Preventive Management of Children with Congenital Anomalies and Syndromes published in 2000. The authors have updated preventive healthcare guidelines for children with specific genetic conditions. The material is organized in checklists by age and each entry provides a brief summary of difficulties patients affected by one of the conditions may face. Each table is designed to be used in the clinical setting in order to optimize the coordination of care.
Purpose: The authors suggest that clinicians copy the protocols and include them as part of the patient medical record. They provide a way of keeping track of surveillance studies important to maintain the health of patients with unique genetic disorders. They depart from the premise that each genetic condition places patients at a higher risk for individual complications associated with their primary diagnosis that may not be seen among all genetic disorders in general. The information is of great value and the author's objectives are met.
Audience: This wonderful book is self explanatory. It is intended to aid all healthcare practitioners in determining the preventive healthcare needs of patients with genetic conditions. Although primarily oriented to medical geneticists and their trainees, the book would also be valuable to developmental pediatricians, primary care physicians, and medical and nursing students. It is well written and easy to understand, which makes it useful for all care providers interested in understanding and learning the natural history of genetic disorders. Dr. Wilson is well known for his multiple publications and participation in scientific endeavors. Dr. Cooley has provided leadership to the Crotched Mountain Rehabilitation center in New Hampshire. They are both experienced physicians with expertise in medical genetics and preventive care.
Features: The information is presented in the form of tables that include a brief description of each genetic condition, followed by checklists of preventive care measurements. The number of conditions is limited only by the current understanding of the clinical progression of genetic disorders. Each entry provides a brief description of the incidence, causation, and diagnosis as well as natural history and family counseling for each disorder. This edition provides more information grouped into broad categories (chromosomal syndromes, syndromes of altered growth, connective tissue disorders, etc). Of particular interest is the entry on the clinical approach to the child with developmental disability.
Assessment: The authors provide an invaluable tool for the care of children with genetic conditions. Their effort represents a tremendous amount of work that will aid all healthcare providers who deal with patients with genetic diseases and disabilities. This is a must-have clinical tool. The ability to use the tables and make them part of the medical records is of invaluable assistance to clinical practitioners. This unique approach deserves periodic review as the understanding of medical genetics disorders increases.

Doody's Review Service

3 Stars from Doody

In a reference and clinical guide, Wilson (pediatric genetics, U. of Texas-Dallas) and Cooley (rehabilitation and pediatrics, Dartmouth U.- Hanover, New Hampshire) provide health professionals a structured approach to preventative care of children with congenital anomalies. For over 120 disorders ranging from cerebral palsy to Down syndrome they summarize key information, then detail general pediatric and specialty concerns in a structure that allows an integrated approach to patient care. For 30 common disorders they also provide checklists to keep an ongoing record of the child's medical complications and progress; they are designed to be copied or printed and placed in the medical record. The disk contain checklists and supplementary information. Annotation c. Book News, Inc., Portland, OR (booknews.com)

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