1
40
1
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1038/sj.ejhg.5201279" target="_blank" rel="noreferrer">http://doi.org/10.1038/sj.ejhg.5201279</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness
Publisher
An entity responsible for making the resource available
European Journal Of Human Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Female; Humans; Male; Children W/SNI; Chromosome Aberrations; Cytogenetics; Environmental Exposure; Fragile X Syndrome/diagnosis; Mental Retardation/diagnosis/genetics; Telomere/genetics
Creator
An entity primarily responsible for making the resource
van Karnebeek CD; Jansweijer MC; Leenders AG; Offringa M; Hennekam RC
Description
An account of the resource
There are no guidelines available for diagnostic studies in patients with mental retardation (MR) established in an evidence-based manner. Here we report such study, based on information from original studies on the results with respect to detected significant anomalies (yield) of six major diagnostic investigations, and evaluate whether the yield differs depending on setting, MR severity, and gender. Results for cytogenetic studies showed the mean yield of chromosome aberrations in classical cytogenetics to be 9.5% (variation: 5.4% in school populations to 13.3% in institute populations; 4.1% in borderline-mild MR to 13.3% in moderate-profound MR; more frequent structural anomalies in females). The median yield of subtelomeric studies was 4.4% (also showing female predominance). For fragile X screening, yields were 5.4% (cytogenetic studies) and 2.0% (molecular studies) (higher yield in moderate-profound MR; checklist use useful). In metabolic investigations, the mean yield of all studies was 1.0% (results depending on neonatal screening programmes; in individual populations higher yield for specific metabolic disorders). Studies on neurological examination all showed a high yield (mean 42.9%; irrespective of setting, degree of MR, and gender). The yield of neuroimaging studies for abnormalities was 30.0% (higher yield if performed on an indicated basis) and the yield for finding a diagnosis based on neuroradiological studies only was 1.3% (no data available on value of negative findings). A very high yield was found for dysmorphologic examination (variation 39-81%). The data from this review allow conclusions for most types of diagnostic investigations in MR patients. Recommendations for further studies are provided.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1038/sj.ejhg.5201279" target="_blank" rel="noreferrer">10.1038/sj.ejhg.5201279</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2005
Backlog
Children W/SNI
Chromosome Aberrations
Cytogenetics
Environmental Exposure
European Journal Of Human Genetics
Female
Fragile X Syndrome/diagnosis
Hennekam RC
Humans
Jansweijer MC
Journal Article
Leenders AG
Male
Mental Retardation/diagnosis/genetics
Offringa M
Telomere/genetics
van Karnebeek CD