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

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.

SUBMITTER: Oegema R

PROVIDER: S-EPMC7790753 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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

Oegema Renske R Barakat Tahsin Stefan TS Wilke Martina M Stouffs Katrien K Amrom Dina D Aronica Eleonora E Bahi-Buisson Nadia N Conti Valerio V Fry Andrew E AE Geis Tobias T Andres David Gomez DG Parrini Elena E Pogledic Ivana I Said Edith E Soler Doriette D Valor Luis M LM Zaki Maha S MS Mirzaa Ghayda G Dobyns William B WB Reiner Orly O Guerrini Renzo R Pilz Daniela T DT Hehr Ute U Leventer Richard J RJ Jansen Anna C AC Mancini Grazia M S GMS Di Donato Nataliya N

Nature reviews. Neurology 20200907 11

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 p ...[more]

PMID: 32895508

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Project description:ObjectivesThe purpose of this study is to provide expert consensus recommendations to establish a global ultrasound curriculum for undergraduate medical students.Methods64 multi-disciplinary ultrasound experts from 16 countries, 50 multi-disciplinary ultrasound consultants, and 21 medical students and residents contributed to these recommendations. A modified Delphi consensus method was used that included a systematic literature search, evaluation of the quality of literature by the GRADE system, and the RAND appropriateness method for panel judgment and consensus decisions. The process included four in-person international discussion sessions and two rounds of online voting.ResultsA total of 332 consensus conference statements in four curricular domains were considered: (1) curricular scope (4 statements), (2) curricular rationale (10 statements), (3) curricular characteristics (14 statements), and (4) curricular content (304 statements). Of these 332 statements, 145 were recommended, 126 were strongly recommended, and 61 were not recommended. Important aspects of an undergraduate ultrasound curriculum identified include curricular integration across the basic and clinical sciences and a competency and entrustable professional activity-based model. The curriculum should form the foundation of a life-long continuum of ultrasound education that prepares students for advanced training and patient care. In addition, the curriculum should complement and support the medical school curriculum as a whole with enhanced understanding of anatomy, physiology, pathophysiological processes and clinical practice without displacing other important undergraduate learning. The content of the curriculum should be appropriate for the medical student level of training, evidence and expert opinion based, and include ongoing collaborative research and development to ensure optimum educational value and patient care.ConclusionsThe international consensus conference has provided the first comprehensive document of recommendations for a basic ultrasound curriculum. The document reflects the opinion of a diverse and representative group of international expert ultrasound practitioners, educators, and learners. These recommendations can standardize undergraduate medical student ultrasound education while serving as a basis for additional research in medical education and the application of ultrasound in clinical practice.

Dataset Information

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

Publications

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

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