Linked Life Data

20824459

Source:http://linkedlifedata.com/resource/pubmed/id/20824459

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-9-8
pubmed:abstractText
Our objective is to describe the contribution of rare diseases to our understanding of the epidemiology of neurodevelopmental disabilities (NDDs) by comparing and contrasting the epidemiologic features of NDDs classified according to key characteristics of developmental delay or deviance in such areas as behavior or cognition (the phenotypic approach; autism spectrum disorders and intellectual disability as examples) versus classification based on the identification of an etiologic diagnosis (the etiologic approach; 22q11.2 deletion syndrome and fragile X syndrome as examples). We suggest specific applications in which consideration of rare etiology-based NDDs might further our understanding of NDD epidemiology overall; what is needed to integrate the two classification approaches; and identify practical challenges in achieving that integration. Understanding commonalities and differences in the epidemiologic features of the phenotypically and etiologically defined NDD classifications provides a useful framework for furthering our understanding of the prevalence, distribution, and causes of NDDs, as well as delivering appropriate diagnostic resources, appropriate treatments, accurate prognostic information, and estimates of recurrence risk for these disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0065-2598
pubmed:author
pubmed:issnType
Print
pubmed:volume
686
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
433-53
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities.
pubmed:affiliation
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. dschendel@cdc.gov
pubmed:publicationType
Journal Article, Review