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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

Silvia Masnada1, Valentina De Giorgis2, Umberto Carugo3

  • 1Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|December 13, 2025
PubMed
Summary

This study established expert consensus on diagnostic criteria for Aicardi syndrome (AIC), a rare neurodevelopmental disorder. New criteria include cerebral malformations and cognitive impairment, refining diagnosis for this ultra-rare condition.

Keywords:
Aicardi syndromeCerebral malformationsDelphi methodExpert consensusNeurodevelopmental disorderdiagnostic criteria

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Aicardi syndrome (AIC) is a rare neurodevelopmental disorder with historically defined diagnostic features.
  • Unclear etiology and evolving diagnostic tools necessitate updated criteria for AIC.
  • Previous diagnostic criteria for AIC have been based on individual approaches.

Purpose of the Study:

  • To establish the first expert-based consensus on diagnostic criteria for Aicardi syndrome (AIC).
  • To integrate existing and novel diagnostic features for AIC.
  • To develop consensus on major, supportive, and alert criteria for AIC in clinical practice.

Main Methods:

  • A modified Delphi study involving a geographically diverse, multidisciplinary group of 55 expert physicians.
  • Achieved consensus on major, supportive, and alert diagnostic criteria for AIC.
  • Did not design a fixed diagnostic algorithm due to disease rarity and data heterogeneity.

Main Results:

  • Consensus was reached on the historical triad of AIC symptoms.
  • New major criteria for AIC include coexisting cerebral malformations and cognitive impairment.
  • Additional supportive features and alert criteria (red flags) were identified for AIC diagnosis.

Conclusions:

  • The Delphi method successfully achieved expert consensus on AIC diagnostic criteria.
  • Limitations include AIC's ultra-rare nature and potential variability in expert experience and representation.
  • Ongoing research is needed to validate and refine AIC criteria, especially with advances in genetic and neurological knowledge.