International consensus recommendations on the diagnostic work-up for malformations of cortical development
Oegema, Renske; Barakat, Tahsin Stefan; Wilke, Martina; Stouffs, Katrien; Amrom, Dina; Aronica, Eleonora; Bahi-Buisson, Nadia; Conti, Valerio; Fry, Andrew E; Geis, Tobias; Andres, David Gomez; Parrini, Elena; Pogledic, Ivana; Said, Edith; Soler, Doriette; Valor, Luis M; Zaki, Maha S; Mirzaa, Ghayda; Dobyns, William B; Reiner, Orly; Guerrini, Renzo; Pilz, Daniela T; Hehr, Ute; Leventer, Richard J; Jansen, Anna C; Mancini, Grazia M S; Di Donato, Nataliya
(2020) Nature Reviews Neurology, volume 16, issue 11, pp. 618 - 635
(Article)
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
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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.
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Keywords: Clinical Neurology, Cellular and Molecular Neuroscience, Review, Journal Article
ISSN: 1759-4758
Publisher: Nature Publishing Group
Note: Funding Information: This article represents a consensus document based on three facetoface expert meetings within the NeuroMIG network that were held in St Julians, Malta, from 21 to 23 February 2018, in Lisbon, Portugal, on 13 and 14 September 2018, and in Rehovot, Israel, on 17 March 2019. The meetings were funded by the European Cooperation in Science & Technology (COST Action CA16118). Two NeuroMIG working groups, WG1 and WG3, took the lead in preparing the draft, although a larger group within the network was invited to participate in the Delphi consensus procedure and comment on the second draft. The final version of the consensus document was reviewed by the drafting team and circulated among all COST network members before submission. Publisher Copyright: © 2020, The Author(s). Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
(Peer reviewed)
