统一评估脑营养不良性脑病（BIND）的临床工具；四场专家研讨会的报告：纽卡斯尔、莱顿、罗马、巴黎。

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-04 DOI:10.1016/j.nmd.2024.104452

Jos Hendriksen , Pien Weerkamp , Ruben Miranda , Anna Kolesnik , Daniela Chieffo , David Skuse , Elizabeth Vroom , Chloe Geagan , Francesco Muntoni , Eugenio Mercuri , BIND WP5 working group

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引用次数: 0

摘要

作为旨在改进杜兴氏和贝克尔肌肉萎缩症脑部受累特征描述的国际项目的一部分，一组临床医生、研究人员和家庭协会在 2021 年 3 月至 2024 年 3 月期间举行了多次会议，以确定可用于评估肌营养不良症神经认知和神经行为脑部合并症的各种可能工具并达成共识。在从筛查到临床实践和科学研究等不同环境中应使用哪些工具的问题上达成了共识。研究发现，筛查问卷不仅在提供流行病学数据方面很有价值，而且在提高杜兴社区和专业人士的认识方面也很有价值。更加标准化和详细的在线问卷调查，结合深入的临床评估，有助于更好地识别脑部合并症的概况，并制定适当的干预计划。此外，通过评估脑部受累的多种特征收集到的信息还可用于探索与其他方面的相关性，如不同肌营养不良蛋白同工酶的区域表达、脑成像以及缺乏这些同工酶的动物模型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Towards harmonization of clinical tools for assessing Brain Involvement in Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, Paris

As part of an international project aimed at improving the characterization of brain involvement in Duchenne and Becker Muscular Dystrophies, a group of clinicians, researchers and family associations held multiple meetings between March 2021 and March 2024 to identify and reach a consensus on the possible tools that could assess the spectrum of neurocognitive and neurobehavioral brain comorbidities in dystrophinopathies. Consensus was achieved on which of these tools should be used across different settings, ranging from screening to clinical practice and scientific research. Screening questionnaires were found to be valuable not only for providing epidemiological data but also for raising awareness among the Duchenne community and professionals. More standardised and detailed online questionnaires, combined with in-depth clinical assessments can help better identify the profile of brain comorbidities and plan appropriate interventions. Additionally, the information gathered from assessing multiple features of brain involvement can be used to explore correlations with other aspects, such as the regional expression of the different dystrophin isoforms, brain imaging, and the animal models deficient in these isoforms.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.