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Related Experiment Videos

Principles and performance: assessing the evidence.

R J Pollitt1

  • 1Neonatal Screening Laboratory, Sheffield Children's Hospital, UK. Rodney.Pollitt@sheffch-tr.trent.nhs.uk

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|January 8, 2000
PubMed
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Systematic reviews on treatments for inborn errors of metabolism and newborn screening face challenges. Poor literature quality and methodological issues limit accurate assessments of current knowledge.

Area of Science:

  • Medical research methodology
  • Metabolic disorders
  • Neonatal screening

Background:

  • Systematic reviews aim to synthesize evidence but can be limited.
  • Inborn errors of intermediary metabolism present unique challenges for research due to rarity and ethical considerations.
  • Newborn screening assessments often lack formal trials, relying on alternative methods.

Purpose of the Study:

  • To identify limitations in systematic reviews for inborn errors of metabolism and newborn screening.
  • To critically evaluate the 'causal pathway' and 'criteria-based' approaches for assessing newborn screening.
  • To highlight discrepancies between established screening criteria and current evidence.

Main Methods:

  • Analysis of literature quality for treatments of inborn errors of metabolism.

Related Experiment Videos

  • Evaluation of the 'causal pathway' approach in newborn screening.
  • Assessment of the 'criteria-based' approach, including Wilson and Jungner criteria, for neonatal screening.
  • Case illustration using two UK Health Technology Assessment Programme reviews.

    • Main Results:

    • Formal literature quality on treatment for inborn errors of metabolism is often poor.
    • The 'causal pathway' approach can be misleading due to discontinuities in incidence estimation.
    • Criteria-based approaches for newborn screening use qualitative descriptors and may conflict with current evidence.
    • Some Wilson and Jungner criteria are inconsistent with contemporary evidence-based views.

    Conclusions:

    • Systematic reviews may not accurately reflect the true state of knowledge in these fields.
    • Methodological limitations in assessing treatments and screening programs require careful consideration.
    • Current approaches to newborn screening assessment need refinement to align with evidence-based practices.