martes, 25 de febrero de 2014

Clinical genetics evaluation in identifying the et... [Genet Med. 2013] - PubMed - NCBI

Clinical genetics evaluation in identifying the et... [Genet Med. 2013] - PubMed - NCBI



 2013 May;15(5):399-407. doi: 10.1038/gim.2013.32. Epub 2013 Mar 21.

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

Erratum in

  • Genet Med. 2013 Aug;15(8):669.

Abstract

The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism before proceeding with any investigation; (ii) discussing testing options, diagnostic yields, and family investment before proceeding with an evaluation; (iii) communicating and coordinating with the patient-centered medical home (PCMH); (iv) assessing the continuously expanding and evolving list of available laboratory-testing modalities in light of the published literature; (v) recognizing the expanded phenotypes of well-described syndromic and metabolic conditions that overlap with autism spectrum disorders; and (vi) defining an individualized evaluation plan based on the unique history and clinical features of a given patient. The guidelines in this paper have been developed to assist the clinician in the consideration of these factors. It updates the original publication from 2008.Genet Med 2013:15(5):399-407.

PMID:
 
23519317
 
[PubMed - indexed for MEDLINE]




full-text ►

National Guideline Clearinghouse | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.



American College of Medical Genetics and Genomics

National Guideline Clearinghouse (NGC)

February 24, 2014



Guideline Title
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
Bibliographic Source(s)
Schaefer GB, Mendelsohn NJ, Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May;15(5):399-407. [76 references] PubMed External Web Site Policy
Guideline Status
This is the current release of the guideline.
This guideline updates a previous version: Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med 2008;10:4–12.

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