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Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment

J J O'Byrne1, S A Lynch2, E P Treacy3

  • 1Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. obyrnej@tcd.ie.

Irish Journal of Medical Science
|April 21, 2015
PubMed

Insights

Investigating global developmental delay (GDD) and learning disability (LD) in children and adults is now guided by new recommendations. These guidelines focus on appropriate first-line metabolic, genetic, and radiological investigations for unexplained cases.

Area of Science:

  • Medical Genetics
  • Pediatric Neurology
  • Diagnostic Imaging

Background:

  • Investigating unexplained global developmental delay (GDD)/learning disability (LD) presents challenges due to limited guidance and understanding of diagnostic approaches.
  • Lack of clear protocols from specialized centers hinders effective patient evaluation.

Purpose of the Study:

  • To establish recommendations for first-line metabolic, genetic, and radiological investigations.
  • To provide guidance for both children and adults presenting with unexplained GDD/ID.

Main Methods:

  • A guideline development group was formed to address the need for standardized investigation protocols.
  • A comprehensive literature search and review were conducted by the committee.
  • A best-practice protocol was developed considering diagnostic yield, practicality, treatability, and cost.

Main Results:

  • The developed protocol outlines appropriate first-line investigations for unexplained GDD/ID.
  • Recommendations cover metabolic, genetic, and radiological assessments.

Conclusions:

  • The recommendations aim to standardize the initial investigation of patients with unexplained GDD/ID.
  • These guidelines are intended to become national standards for clinical practice.
Abstract

Keywords:
First line investigationsGlobal developmental delayGuidelinesLearning disability

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