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Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting

Published on: June 6, 2020

Current evidence-based recommendations on investigating children with global developmental delay.

Renuka Mithyantha¹, Rachel Kneen^2,3, Emma McCann⁴

¹Department of Developmental Paediatrics, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

Archives of Disease in Childhood

|October 22, 2017

Summary

Global developmental delay (GDD) investigations in young children should prioritize genetic testing and screening for treatable metabolic conditions. Updated guidelines recommend microarray testing as a first-line approach for unexplained GDD.

Keywords:

genetics neurodevelopment neurodisability

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Area of Science:

Pediatrics
Genetics
Neurology

Background:

Global developmental delay (GDD) affects 1-3% of children under five, with diverse causes including genetic and metabolic factors.
Advances in biotechnology and genetic testing necessitate updated investigation protocols for GDD in young children.

Purpose of the Study:

To provide updated guidance on first-line and second-line investigations for GDD in children under five.
To review the yield and cost-effectiveness of various diagnostic approaches for GDD.

Main Methods:

A literature review was conducted from 2006 to 2016, focusing on evidence for investigating developmental delay in children under five.
Evidence was collated into first-line and second-line investigations, considering yield and cost implications.

Main Results:

Genetic testing should be a first-line investigation for unexplained GDD in children under five, provided no exogenous cause is identified.
Investigations for treatable conditions, particularly metabolic disorders, should be considered first-line due to a higher-than-expected yield.
Second-line investigations should be guided by clinical assessment, patient history, and developmental trajectory.

Conclusions:

Current UK recommendations for investigating GDD may require updating.
Microarray testing should be considered a first-line investigation for GDD.
A comprehensive approach to investigating treatable metabolic disorders is recommended for children with GDD.