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Fifteen-minute consultation: Early developmental impairment - an update on diagnostic tests

Frederica Sarantis1, Francesca Seregni2, Thiloka Ratnaike3

  • 1East and North Hertfordshire NHS Trust, Stevenage, UK.

Archives of Disease in Childhood. Education and Practice Edition
|May 14, 2026
PubMed

Insights

Investigating developmental delay in children is crucial. Genomics, specifically next-generation sequencing, offers a faster, more equitable path to accurate genetic diagnoses for improved care.

Area of Science:

  • Pediatrics
  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Developmental delay is a frequent pediatric concern with varied causes.
  • Identifying the underlying cause is vital for prognosis, recurrence risk, and management.
  • Many cases of unexplained developmental delay have an underlying genetic basis.

Purpose of the Study:

  • To review advances in investigating pediatric developmental delay.
  • To emphasize the role of genomics in achieving timely diagnoses.
  • To advocate for next-generation sequencing as a primary diagnostic tool.

Main Methods:

  • Focus on recent advancements in genetic testing methodologies.
  • Highlight the utility of next-generation sequencing (NGS) techniques.
  • Integration of genomic testing with standard biochemical and metabolic assessments.

Main Results:

  • Genomic approaches, particularly NGS, significantly improve diagnostic yield in developmental delay.
  • Early implementation of NGS can reduce the time to diagnosis.
  • Enhanced equity in accessing advanced genetic testing is achievable.

Conclusions:

  • Next-generation sequencing should be a first-line investigation for children with developmental delay.
  • Genomic testing alongside biochemical and metabolic tests optimizes diagnostic outcomes.
  • Accelerating genetic diagnosis leads to better-informed clinical management and patient care.

Keywords:
Child DevelopmentInfant DevelopmentNeurologyPaediatricsPredictive Value of Tests

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