Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders

IF 6.6 1区医学 Q1 CLINICAL NEUROLOGY

Epilepsia Pub Date : 2024-05-27 DOI:10.1111/epi.17991

Gabrielle Conecker, Maya Y. Xia, JayEtta Hecker, Christelle Achkar, Cristine Cukiert, Seth Devries, Elizabeth Donner, Mark Fitzgerald, Elena Gardella, Michael Hammer, Anaita Hegde, Chunhui Hu, Mitsuhiro Kato, Tian Luo, John M. Schreiber, Yi Wang, Tammy Kooistra, Madeleine Oudin, Kayla Waldrop, J. Tyler Youngquist, Dennis Zhang, Elaine Wirrell, M. Scott Perry

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Abstract

Objectives

We aimed to develop consensus on comorbidities (frequency, severity, and prognosis) and overall outcomes in epilepsy, development, and cognition for the five phenotypes of SCN8A-related disorders.

Methods

A core panel consisting of 13 clinicians, 1 researcher, and 6 caregivers was formed and split into three workgroups. One group focused on comorbidities and prognosis. All groups performed a literature review and developed questions for use in a modified-Delphi process. Twenty-eight clinicians, one researcher, and 13 caregivers from 16 countries participated in three rounds of the modified-Delphi process. Consensus was defined as follows: strong consensus ≥80% fully agree; moderate consensus ≥80% fully or partially agree, <10% disagree; and modest consensus 67%–79% fully or partially agree, <10% disagree.

Results

Consensus was reached on the presence of 14 comorbidities in patients with Severe Developmental and Epileptic Encephalopathy (Severe DEE) spanning non-seizure neurological disorders and other organ systems; impacts were mostly severe and unlikely to improve or resolve. Across Mild/Moderate Developmental and Epileptic Encephalopathy (Mild/Moderate DEE), Neurodevelopmental Delay with Generalized Epilepsy (NDDwGE), and NDD without Epilepsy (NDDwoE) phenotypes, cognitive and sleep-related comorbidities as well as fine and gross motor delays may be present but are less severe and more likely to improve compared to Severe DEE. There was no consensus on comorbidities in the SeL(F)IE phenotype but strong conesensus that seizures would largely resolve. Seizure freedom is rare in patients with Severe DEE but may occur in some with Mild/Moderate DEE and NDDwGE.

Significance

Significant comorbidities are present in most phenotypes of SCN8A-related disorders but are most severe and pervasive in the Severe DEE phenotype. We hope that this work will improve recognition, early intervention, and long-term management for patients with these comorbidities and provide the basis for future evidence-based studies on optimal treatments of SCN8A-related disorders. Identifying the prognosis of patients with SCN8A-related disorders will also improve care and quality-of-life for patients and their caregivers.

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关于 SCN8A 相关癫痫和/或神经发育障碍的合并症和预后的全球修正德尔菲共识。

目标：我们旨在就SCN8A相关疾病的五种表型的合并症（频率、严重程度和预后）以及癫痫、发育和认知方面的总体结果达成共识：成立了一个由 13 名临床医生、1 名研究人员和 6 名护理人员组成的核心小组，并将其分成三个工作组。其中一个小组主要研究合并症和预后。所有小组都进行了文献综述，并在修改后的德尔菲流程中提出了问题。来自 16 个国家的 28 名临床医生、1 名研究人员和 13 名护理人员参加了三轮改良德尔菲流程。共识的定义如下：强烈共识≥80%完全同意；中等共识≥80%完全同意或部分同意：就重度发育性和癫痫性脑病（Severe DEE）患者的 14 种合并症达成了共识，这些合并症涉及非癫痫发作性神经系统疾病和其他器官系统；这些合并症的影响大多很严重，而且不太可能得到改善或缓解。在轻度/中度发育性癫痫脑病（Mild/Moderate DEE）、伴全身性癫痫的神经发育迟缓（NDDwGE）和无癫痫的神经发育迟缓（NDDwoE）表型中，可能会出现认知和睡眠相关的合并症以及精细和粗大运动迟缓，但与重度发育性癫痫脑病（Severe DEE）相比，其严重程度较轻，且更有可能得到改善。对于 SeL(F)IE 表型的并发症尚未达成共识，但有强烈的共识认为癫痫发作将在很大程度上得到缓解。重度 DEE 患者很少出现癫痫发作，但一些轻度/中度 DEE 和 NDDwGE 患者可能会出现癫痫发作：在 SCN8A 相关疾病的大多数表型中都存在严重的合并症，但在重度 DEE 表型中最为严重和普遍。我们希望这项工作能提高对这些合并症患者的识别、早期干预和长期管理水平，并为今后开展 SCN8A 相关疾病最佳治疗的循证研究奠定基础。确定 SCN8A 相关疾病患者的预后也将改善患者及其护理人员的护理和生活质量。

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来源期刊

Epilepsia 医学-临床神经学

CiteScore

10.90

自引率

10.70%

发文量

319

审稿时长

2-4 weeks

期刊介绍： Epilepsia is the leading, authoritative source for innovative clinical and basic science research for all aspects of epilepsy and seizures. In addition, Epilepsia publishes critical reviews, opinion pieces, and guidelines that foster understanding and aim to improve the diagnosis and treatment of people with seizures and epilepsy.