Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. Consultation with a cortical visual impairment experienced specialist and the Consumer Reference Group informed modifications to the instructions of the Rett Syndrome Hand Function Scale for children with CDKL5 deficiency disorder (CDD-Hand). Eighty-six families registered with the International CDKL5 Disorder Database provided video clips of their child's hand function and provided feedback about the measure. Video data were coded by 2 researchers to evaluate intra- and interrater reliability. This study provides initial evidence of validation and reliability. The scale appears to be suitable for a range of ages and functional abilities for CDKL5 deficiency disorder.

CDKL5中的致病变异基因导致CDKL5缺乏症（CDD），其特征是早发性癫痫，严重的发育迟缓，并且通常是皮质视觉障碍。未来临床试验的成功需要经过验证的临床结果测量。本研究旨在调整针对 CDKL5 缺乏症的 Rett 综合征手功能量表，并评估其可行性、可接受性、内容效度和信度。咨询皮质视觉障碍经验丰富的专家和消费者咨询小组，了解对 CDKL5 缺乏症 (CDD-Hand) 儿童 Rett 综合征手功能量表说明的修改。在国际 CDKL5 疾病数据库注册的 86 个家庭提供了他们孩子手部功能的视频剪辑，并提供了有关该措施的反馈。视频数据由 2 名研究人员编码，以评估内部和评估者之间的可靠性。这项研究提供了验证和可靠性的初步证据。该量表似乎适用于 CDKL5 缺乏症的一系列年龄和功能能力。