The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities

Diana Schendel, Catherine Rice, Christopher M Cunniff

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
Pages433-453
Number of pages21
Volume686
DOIs
StatePublished - 2010
Externally publishedYes

Publication series

NameAdvances in Experimental Medicine and Biology
Volume686
ISSN (Print)00652598

Fingerprint

Epidemiology
Rare Diseases
DiGeorge Syndrome
Fragile X Syndrome
Intellectual Disability
Cognition
Recurrence

Keywords

  • 22q11.2 deletion syndrome
  • Autism spectrum disorders
  • Epidemiology
  • Fragile X syndrome
  • Intellectual disability
  • Neurodevelopmental disabilities
  • Rare disorders

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Schendel, D., Rice, C., & Cunniff, C. M. (2010). The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. In Advances in Experimental Medicine and Biology (Vol. 686, pp. 433-453). (Advances in Experimental Medicine and Biology; Vol. 686). https://doi.org/10.1007/978-90-481-9485-8_24

The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. / Schendel, Diana; Rice, Catherine; Cunniff, Christopher M.

Advances in Experimental Medicine and Biology. Vol. 686 2010. p. 433-453 (Advances in Experimental Medicine and Biology; Vol. 686).

Research output: Chapter in Book/Report/Conference proceedingChapter

Schendel, D, Rice, C & Cunniff, CM 2010, The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. in Advances in Experimental Medicine and Biology. vol. 686, Advances in Experimental Medicine and Biology, vol. 686, pp. 433-453. https://doi.org/10.1007/978-90-481-9485-8_24
Schendel D, Rice C, Cunniff CM. The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. In Advances in Experimental Medicine and Biology. Vol. 686. 2010. p. 433-453. (Advances in Experimental Medicine and Biology). https://doi.org/10.1007/978-90-481-9485-8_24
Schendel, Diana ; Rice, Catherine ; Cunniff, Christopher M. / The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. Advances in Experimental Medicine and Biology. Vol. 686 2010. pp. 433-453 (Advances in Experimental Medicine and Biology).
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