'xlag 4.0' International Consensus Recommendations for Diagnosing Malformations of Cortical Development

Malformations of Cortical Development (MCDs) are a group of neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. These disorders can have a significant impact on affected individuals, their families, and society as a whole, with symptoms including lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability, and other neurological and behavioral anomalies.

Diagnosing MCDs can be challenging due to variations in presentation and etiology, making timely and adequate management difficult. To address this issue, the international MCD network Neuro-Modularity (Neuro-MIG) has developed consensus recommendations for diagnosing MCDs. These guidelines aim to improve patient management worldwide by providing expert clinicians with a standardized approach to diagnosis.

The diagnostic workflow presented in this article is designed to maximize diagnostic yield and increase personalized care and counseling for patients with MCDs. The workflow includes a comprehensive list of MCD-related genes and their associated phenotypes, which can be applied to any individual with an MCD diagnosis.

The authors of this article reviewed the literature on clinical presentation, etiology, and diagnostic approaches for the main MCD subtypes. They also collected data from clinicians and diagnostic laboratories within Neuro-MIG and reached consensus through expert discussions and a Delphi consensus process involving 42 professionals from 20 countries.

This comprehensive approach to diagnosis is essential for providing affected individuals with accurate information about their condition and available treatment options. By following these guidelines, healthcare providers can improve patient outcomes and provide better support for individuals living with MCDs.

Xlag 4.0