Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-x5gtn Total loading time: 0 Render date: 2024-05-13T11:15:31.476Z Has data issue: false hasContentIssue false

Part II - The management of selected single congenital anomalies and associations

Published online by Cambridge University Press:  29 January 2010

Golder N. Wilson
Affiliation:
University of Texas Southwestern Medical Center, Dallas
W. Carl Cooley
Affiliation:
Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire
Get access

Summary

The average newborn has a 2–3% chance to have a major congenital anomaly, twothirds with isolated defects like cleft palate and one-third with patterns of defects (sequences, associations, or syndromes). Paralleling this frequency of structural defects, and exaggerated when they are present, are risks for abnormal brain development that manifest as behavior differences and/or cognitive disability. These children, defined by an IQ two standard deviations below normal or less than 70, will also constitute 2–3% of the population. The result is a 5% chance for physical and/or mental disability in children old enough for assessment, and their increased clinical care ensures that every health care professional will devote much time to children with special needs. This section begins translation of principles from Chapters 1 to 3 into management strategies for specific disabling conditions.

Chapters 4 and 5 will discuss congenital disorders that have no associated birth defects (like some cases of cerebral palsy) or lack the stereotypical and recognizable patterns of anomalies that characterize genetic syndromes. Cerebral palsy encompasses a large group of disorders defined by a typical pattern of neurologic dysfunction; it is a category like autism spectrum disorders where DNA technology is demonstrating an increasing etiologic role for genes as compared to perinatal or environmental influences. Hydrocephalus and spina bifida also have genetic predisposition, but are like cerebral palsy in forcing attention to neuromotor function rather than internal defects or genetic testing.

Type
Chapter
Information
Preventive Health Care for Children with Genetic Conditions
Providing a Primary Care Medical Home
, pp. 59 - 60
Publisher: Cambridge University Press
Print publication year: 2006

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×