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

R Shahdadpuri1, D Lambert, S A Lynch

  • 1National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin. raveenshahdadpuri@gmail.com

Irish Medical Journal
|July 24, 2009
PubMed

Insights

A clinical genetics assessment successfully diagnosed 30% of global developmental delay cases, highlighting its importance. Dysmorphic features improved diagnostic rates, often identified through clinical examination alone.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Global developmental delay (GDD) is a significant concern in pediatric healthcare.
  • Accurate diagnosis is crucial for appropriate management and intervention.

Purpose of the Study:

  • To determine the diagnostic yield of routine genetics clinic referrals for global developmental delay.
  • To evaluate the effectiveness of clinical genetics assessments in diagnosing GDD.

Main Methods:

  • Retrospective review of 119 patient case notes referred to a clinical geneticist.
  • Analysis of diagnostic outcomes, including new diagnoses, confirmed diagnoses, and removal of incorrect labels.
  • Statistical analysis, including odds ratios and confidence intervals, to identify factors influencing diagnostic yield.

Main Results:

  • A diagnosis was established in 30% (36/119) of cases.
  • Patients with dysmorphic features had a significantly higher diagnostic rate (OR 1.825).
  • Diagnosis was primarily achieved through clinical examination, with molecular and cytogenetic analyses confirming a smaller proportion.

Conclusions:

  • Clinical genetics assessment is vital for diagnosing global developmental delay.
  • Early referral to a genetics clinic can improve diagnostic outcomes.
  • Further research into advanced diagnostic techniques for GDD is warranted.

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