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International consensus recommendations on the diagnostic work-up for malformations of cortical development

Renske Oegema1, Tahsin Stefan Barakat2, Martina Wilke2

  • 1Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands. r.oegema@umcutrecht.nl.

Nature Reviews. Neurology
|September 8, 2020
PubMed

Insights

Malformations of cortical development (MCDs) are complex neurodevelopmental disorders. This study provides a consensus diagnostic workflow to improve patient management and personalized care for MCDs globally.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Malformations of cortical development (MCDs) are a group of neurodevelopmental disorders with diverse clinical presentations and genetic causes.
  • These conditions lead to significant lifelong challenges, including epilepsy, intellectual disability, and cerebral palsy, impacting individuals and healthcare systems.
  • Current diagnostic pathways are often complex and fragmented, delaying appropriate patient management.

Purpose of the Study:

  • To establish international consensus recommendations for the diagnostic work-up of Malformations of Cortical Development (MCDs).
  • To provide a standardized diagnostic workflow to aid clinicians in identifying MCD subtypes and their genetic basis.
  • To improve timely and accurate diagnosis, enabling personalized care, prognosis, and recurrence risk counseling for affected individuals.

Main Methods:

  • A comprehensive literature review on MCD clinical presentation, etiology, and diagnostic approaches.
  • Data collection on current practices and recommendations from clinicians and diagnostic laboratories within the Neuro-MIG network.
  • Consensus building among 42 international experts from 20 countries using expert discussions and a Delphi process.

Main Results:

  • A consensus-driven diagnostic workflow applicable to all individuals with MCD.
  • A comprehensive list of MCD-related genes and their associated phenotypes.
  • Recommendations aimed at maximizing diagnostic yield and facilitating personalized patient care.

Conclusions:

  • The developed diagnostic workflow offers a standardized approach to MCD diagnosis.
  • Implementation of this workflow is expected to enhance diagnostic accuracy and improve patient management globally.
  • This consensus initiative facilitates personalized care and genetic counseling for individuals with Malformations of Cortical Development.

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