期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 31, 期 -, 页码 61-69出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2021.02.006
关键词
CASK pathogenic Variants; Epilepsy; Late-onset spasms; Spindles abnormalities; Developmental delay
资金
- Italian Ministry of Health [NET-2013-02356160]
- European Research Council (ERC Starting Grant) [260888]
- Italian Ministry of University and Research (Progetto Dipartimenti di Eccellenza)
- Pierfranco and Luisa Mariani Foundation (PADAPORT project)
- European Reference Network for Rare Neurological Diseases [739510]
The study found that epilepsy is a common comorbidity in patients with CASK pathogenic variants, with a high incidence of spasms and drug resistance. The degree of developmental delay does not seem to be more severe in patients with epilepsy, but feeding difficulties are more frequent in patients with epilepsy.
Objective: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the elec-troclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay. Methods: this national multicentre cohort included genetically confirmed patients with different CASK pathogenic variants. Our findings were compared with cohorts reported in the literature. Results: we collected 34 patients (29 females) showing from moderate (4 patients) to severe (22) and profound (8) developmental delay; all showed pontine and cerebellar hypoplasia, all except three with microcephaly. Seventeen out of 34 patients (50%) suffered from epileptic seizures, including spasms (11 patients, 32.3%), generalized (5) or focal seizures (1). In 8/17 individuals (47.1%), epilepsy started at or beyond the age of 24 months. Seven (3 males) out of the 11 children with spasms showed EEG features and a course supporting the diagnosis of a developmental and epileptic encephalopathy (DEE). Drug resistance was frequent in our cohort (52.9% of patients with epilepsy). EEG abnormalities included poorly organized background activity with diffuse or multifocal epileptiform abnormalities and sleep-activation, with possible appearance over the follow-up period. Developmental delay degree was not statistically different among patients with or without seizures but feeding difficulties were more frequent in patients with epilepsy. Conclusions: epilepsy is a frequent comorbidity with a high incidence of spasms and drug resistance. Overall developmental disability does not seem to be more severe in the group of patients with epilepsy nor to be linked to specific epilepsy/EEG characteristics. A childhood onset of epilepsy is frequent, with possible worsening over time, so that serial and systematic monitoring is mandatory. ? 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据