Book contents
- Frontmatter
- Contents
- Preface
- Glossary of genetic and molecular terms
- Part I Approach to the child with special needs
- Part II The management of selected single congenital anomalies and associations
- Part III Chromosomal syndromes
- Part IV Syndromes remarkable for altered growth
- Part V Management of craniofacial syndromes
- Part VI Management of connective tissue and integumentary syndromes
- Part VII The management of neurologic and neurodegenerative syndromes
- Part VIII Management of neurodegenerative metabolic disorders
- References
- Index
Part I - Approach to the child with special needs
Published online by Cambridge University Press: 29 January 2010
- Frontmatter
- Contents
- Preface
- Glossary of genetic and molecular terms
- Part I Approach to the child with special needs
- Part II The management of selected single congenital anomalies and associations
- Part III Chromosomal syndromes
- Part IV Syndromes remarkable for altered growth
- Part V Management of craniofacial syndromes
- Part VI Management of connective tissue and integumentary syndromes
- Part VII The management of neurologic and neurodegenerative syndromes
- Part VIII Management of neurodegenerative metabolic disorders
- References
- Index
Summary
Children with special health care needs account for a substantial proportion of pediatric hospital and outpatient visits. While the individual disorders causing chronic disease may be rare, the aggregate impact of chronic care occupies a significant fraction of the health professional's time. It is often cited that the sickest 1% of the population consumes 30% of the health care resources while the sickest 5% consumes 50%. The impact of chronic illness is similarly exaggerated in pediatric practice, with disproportionate demands on practitioners. Preventive management offers an important opportunity to minimize complications in children with special health care needs, and the key to preventive management is a specific diagnosis and approach.
This section previews those on specific disorders by outlining general approaches to the child with genetic disease and developmental disability. The practitioner should realize that the many rare genetic and developmental disorders can be grouped into disease categories, providing general guidelines for specialty referral and preventive management. Rather than being overwhelmed by long lists of eponyms or symptoms, the primary care provider can recognize categories such as multiple defect syndromes or increased muscle tone and use these introductory chapters to refine their approach to the diagnosis and management or congenital disorders.
Chapter 2 examines different causes of developmental disability,with an overview of assessment and therapy. Early recognition of developmental disabilities is emphasized, so that a Chronic Condition Management protocol can be instituted that optimizes pivotal functions like hearing and vision.
- Type
- Chapter
- Information
- Preventive Health Care for Children with Genetic ConditionsProviding a Primary Care Medical Home, pp. 1 - 2Publisher: Cambridge University PressPrint publication year: 2006