International consensus recommendations on the diagnostic work-up for malformations of cortical development
Year: 2020
Type: review
Abstract: Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.
Source: Nature Reviews Neurology
Authors: Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gomez Andres, Elena Parrini, Ivana Pogledic, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna C. Jansen, Grazia M. S. Mancini, Nataliya Di Donato
Institutions: Utrecht University, University Medical Center Utrecht, Erasmus MC, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Université Libre de Bruxelles, Centre Hospitalier de Luxembourg, Queen Fabiola Children's University Hospital, Amsterdam University Medical Centers, Stichting Epilepsie Instellingen Nederland, University of Amsterdam, Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades, Institut des Maladies Génétiques Imagine, Meyer Children's Hospital, University of Florence, University Hospital of Wales, Cardiff University, University Hospital Regensburg, Kinderklinik Regensburg, Vall d'Hebron Hospital Universitari, Medical University of Vienna, Mater Dei Hospital, University of Malta, Hospital Universitario Puerta del Mar, National Research Centre, University of Minnesota, Weizmann Institute of Science, Queen Elizabeth University Hospital, University of Regensburg, Royal Children's Hospital, The University of Melbourne, Murdoch Children's Research Institute, Technische Universität Dresden
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W3083080967