Junaid Mohammed, Wong Kingsley, Korolainen Minna A, Amin Sam, Downs Jenny, Leonard Helen
The Kids Research Institute Australia, The University of Western Australia, Northern Entrance, Western Australia, Australia.
Research and Development, Orion Corporation, Espoo, Finland.
Pediatr Neurol. 2025 Feb;163:68-75. doi: 10.1016/j.pediatrneurol.2024.11.010. Epub 2024 Nov 28.
Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes. These variables were examined according to gender, age group, genetic variant group, and lifetime number of antiseizure medications. Using negative binomial regression associations were expressed as incidence rate ratios and geometric mean ratios for hospitalization rates and length of stay, respectively.
There were 2880 hospitalizations over 2728.4 person-years with two thirds seizure related. Infants were much more likely to be hospitalized than older individuals, with decreasing effect sizes with increasing age. Males had slightly higher rates of hospitalizations for seizure-related management and for non-seizure-related admissions. Lifetime use of six or more antiseizure medications was associated with a higher hospitalization rate for seizure management than use of three or fewer medications. The median length of stay was five days for seizure and nonseizure reasons.
There is an urgent need for much better seizure management in CDKL5 deficiency disorder given the hospitalization burden especially in the preschool age group and the multiplicity of antiseizure medications being used.
关于患有CDKL5缺乏症（一种极其罕见的发育性癫痫性脑病）的个体的医院服务使用情况的信息有限，而相关证据有助于服务规划。因此，利用国际CDKL5障碍数据库中379名经基因验证个体的基线和纵向数据，我们旨在调查该队列中与癫痫相关的住院率和其他住院率以及相关住院时长。
结果变量为家庭报告的终身住院次数以及癫痫（管理和/或检查）相关和非癫痫相关原因的平均住院时长。这些变量根据性别、年龄组、基因变异组以及终身抗癫痫药物使用次数进行了检查。使用负二项回归，关联分别以住院率和住院时长的发病率比和几何平均比表示。
在2728.4人年期间共有2880次住院，其中三分之二与癫痫相关。婴儿比年龄较大的个体更易住院，且随着年龄增长效应量逐渐减小。男性因癫痫相关管理和非癫痫相关入院的住院率略高。终身使用六种或更多抗癫痫药物与癫痫管理的住院率高于使用三种或更少药物的情况相关。癫痫和非癫痫原因的住院中位时长均为五天。
鉴于住院负担，特别是在学龄前儿童年龄组以及所使用的抗癫痫药物种类繁多，CDKL5缺乏症患者迫切需要更好的癫痫管理。
