Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.

Hdl Handle:
http://hdl.handle.net/10147/207410
Title:
Diagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.
Authors:
Shahdadpuri, R; Lambert, D; Lynch, S A
Affiliation:
National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin,, Dublin. raveenshahdadpuri@gmail.com
Citation:
Ir Med J. 2009 May;102(5):146-8.
Journal:
Irish medical journal
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207410
PubMed ID:
19623810
Abstract:
The aim of this study was to ascertain the diagnostic yield following a routine genetics clinic referral for the assessment of global developmental delay. Detailed retrospective review of 119 complete consecutive case notes of patients referred to one single clinical geneticist over a 14 month time period was undertaken (n = 119; 54 males, 65 females). The age at initial review ranged from 2 months to 37 years 3 months (mean 8 y 3 mo [SD 7 y 10 mo]). We made a diagnosis in 36/119 (30%); 21/36 were new diagnoses and 15/36 were confirmations of diagnoses. We removed a wrong diagnostic label in 8/119 (7%). In 3/8 we were able to achieve a diagnosis but in 5/8 no alternative diagnosis was reached. We had a better diagnostic rate where the patients were dysmorphic (odds ratio [OR] 1.825; 95% confidence interval [CI] 1.065 to 3.128, p = 0.044). In the majority, the diagnosis was made by clinical examination only. Molecular diagnosis was reached in seven cases. Five cases were confirmed by cytogenetic analysis. Brain magnetic resonance imaging (MRI) revealed a diagnosis in three cases. This study confirms the importance of a clinical genetics assessment in the investigation of global developmental delay.
Language:
eng
MeSH:
Adolescent; Adult; Child; Child, Preschool; Confidence Intervals; Cytogenetic Analysis; Developmental Disabilities/*diagnosis/genetics; Female; *Genetic Testing; Humans; Infant; Magnetic Resonance Imaging; Male; Odds Ratio; *Referral and Consultation; Retrospective Studies; Time Factors; Young Adult
ISSN:
0332-3102 (Print); 0332-3102 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorShahdadpuri, Ren_GB
dc.contributor.authorLambert, Den_GB
dc.contributor.authorLynch, S Aen_GB
dc.date.accessioned2012-02-01T10:24:18Z-
dc.date.available2012-02-01T10:24:18Z-
dc.date.issued2012-02-01T10:24:18Z-
dc.identifier.citationIr Med J. 2009 May;102(5):146-8.en_GB
dc.identifier.issn0332-3102 (Print)en_GB
dc.identifier.issn0332-3102 (Linking)en_GB
dc.identifier.pmid19623810en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207410-
dc.description.abstractThe aim of this study was to ascertain the diagnostic yield following a routine genetics clinic referral for the assessment of global developmental delay. Detailed retrospective review of 119 complete consecutive case notes of patients referred to one single clinical geneticist over a 14 month time period was undertaken (n = 119; 54 males, 65 females). The age at initial review ranged from 2 months to 37 years 3 months (mean 8 y 3 mo [SD 7 y 10 mo]). We made a diagnosis in 36/119 (30%); 21/36 were new diagnoses and 15/36 were confirmations of diagnoses. We removed a wrong diagnostic label in 8/119 (7%). In 3/8 we were able to achieve a diagnosis but in 5/8 no alternative diagnosis was reached. We had a better diagnostic rate where the patients were dysmorphic (odds ratio [OR] 1.825; 95% confidence interval [CI] 1.065 to 3.128, p = 0.044). In the majority, the diagnosis was made by clinical examination only. Molecular diagnosis was reached in seven cases. Five cases were confirmed by cytogenetic analysis. Brain magnetic resonance imaging (MRI) revealed a diagnosis in three cases. This study confirms the importance of a clinical genetics assessment in the investigation of global developmental delay.en_GB
dc.language.isoengen_GB
dc.subject.meshAdolescenten_GB
dc.subject.meshAdulten_GB
dc.subject.meshChilden_GB
dc.subject.meshChild, Preschoolen_GB
dc.subject.meshConfidence Intervalsen_GB
dc.subject.meshCytogenetic Analysisen_GB
dc.subject.meshDevelopmental Disabilities/*diagnosis/geneticsen_GB
dc.subject.meshFemaleen_GB
dc.subject.mesh*Genetic Testingen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfanten_GB
dc.subject.meshMagnetic Resonance Imagingen_GB
dc.subject.meshMaleen_GB
dc.subject.meshOdds Ratioen_GB
dc.subject.mesh*Referral and Consultationen_GB
dc.subject.meshRetrospective Studiesen_GB
dc.subject.meshTime Factorsen_GB
dc.subject.meshYoung Adulten_GB
dc.titleDiagnostic outcome following routine genetics clinic referral for the assessment of global developmental delay.en_GB
dc.contributor.departmentNational Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin,, Dublin. raveenshahdadpuri@gmail.comen_GB
dc.identifier.journalIrish medical journalen_GB
dc.description.provinceLeinster-

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