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Aetiological investigations in early developmental impairment: are they worth it?

Anthony Richard Hart1, Ruchi Sharma2, Mark Atherton3

  • 1Department of Paediatric Neurology, Sheffield Children's Hospital NHS Foundation Trust, Ryegate Children's Centre, Sheffield, UK.

Archives of Disease in Childhood
|July 24, 2017
PubMed

Insights

Most standard investigations for early developmental impairment (EDI) in children do not yield a diagnosis. Streamlining diagnostic pathways can reduce healthcare costs and patient burden.

Area of Science:

  • Pediatric Neurology
  • Developmental Pediatrics
  • Clinical Genetics

Background:

  • Early developmental impairment (EDI) affects numerous children, necessitating accurate etiological diagnosis.
  • Identifying the cause of EDI is crucial for targeted interventions and management.
  • Current diagnostic approaches involve a wide range of investigations with varying diagnostic yields.

Purpose of the Study:

  • To determine the frequency of diagnosis in children with EDI.
  • To assess the contribution of specific investigations to diagnosing the cause of EDI.
  • To propose a streamlined guideline for EDI investigation.

Main Methods:

  • Retrospective review of case notes for 699 children referred for EDI investigation.
  • Participants categorized into two groups: EDI without additional features (EDI-) and EDI with additional features (EDI+).
  • Analysis of diagnostic yield from various investigations.

Main Results:

  • A diagnosis was established in 23.7% of children, significantly higher in the EDI+ group (27.3%) compared to the EDI- group (9.9%).
  • Commonly used screening tests like full blood count and metabolic screens did not lead to diagnoses.
  • MRI (23.1%) and microarray (11.5%) were the most effective investigations in identifying causes of EDI.

Conclusions:

  • A majority of 'screening' investigations for EDI do not contribute to a diagnosis.
  • There is a significant opportunity for cost savings within the NHS by optimizing investigation protocols.
  • A data-driven, streamlined guideline for EDI investigation is proposed to reduce patient and family burden.
Abstract

Keywords:
Child DevelopmentDevelopmental DisabilitiesDiagnosis DifferentialEtiologyInvestigative Techniques

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