CDKL5 发育不良和癫痫性脑病的早期发育干预和丰富环境:病例报告。

IF 2.3 Q3 CLINICAL NEUROLOGY
Neurology. Clinical practice Pub Date : 2024-06-01 Epub Date: 2024-04-19 DOI:10.1212/CPJ.0000000000200287
Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Valeria Capra, Camelia Lentoiou, Thomas Foiadelli, Fabio Sirchia, Antonella Luparia, Gianluigi Marseglia, Luca A Ramenghi, Pasquale Striano
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引用次数: 0

摘要

目的:CDKL5 发育性癫痫脑病(CDKL5-DEE)是一种罕见的 X 连锁显性遗传疾病。以家庭为中心的早期干预(EI)计划应纳入临床实践,该计划可通过接触丰富的环境促进轴突可塑性和突触重组。然而,目前针对 CDKL5-DEE 和脑性视力障碍(CVI)患者的专门早期干预方案还很缺乏:我们为您介绍一名 CDKL5 基因缺失(MIM*300203)的女孩。该患儿在 2 个月大时出现严重癫痫。她的神经系统检查异常,并患有严重的CVI。在 5 个月大时进行的首次评估中,她在格里菲斯精神发育量表 III(GMDS-III)上的发育商数(DQ)相当于 3 个月大时的水平(95% CI)。该儿童参加了为期 6 个月的幼儿综合发展项目:结果:12 个月大时,DQ 得分为 91 分。神经视觉功能有所改善。量表结果显示,神经运动和精神运动发育逐步改善,这与疾病的预期结果形成鲜明对比:本案例研究表明,以家庭为中心的 EI 和对 CVI 的及时评估可促进和加强神经发育。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Objectives: CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI).

Methods: We present a girl with a deletion of the CDKL5 gene (MIM*300203). At the age of 2 months, the child presented with severe epilepsy. The neurologic examination was abnormal, and she had severe CVI. At the first assessment, at 5 months old, her Developmental Quotient (DQ) on the Griffiths Mental Developmental Scales III (GMDS-III) was equivalent to 3-month-old skills (95% CI). The child was enrolled in an EI program for 6 months.

Results: At 12 months of age, the DQ score was 91. There has been improvement in the neurovisual functions. The findings from the scales show a gradual improvement in neuromotor and psychomotor development, which is in contrast to the expected outcome of the disease.

Discussion: The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.

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来源期刊
Neurology. Clinical practice
Neurology. Clinical practice CLINICAL NEUROLOGY-
CiteScore
4.00
自引率
0.00%
发文量
77
期刊介绍: Neurology® Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. Articles include studies reporting on genetic disease risk, pharmacogenomics, and results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology® Genetics, but studies using model systems for treatment trials, including well-powered studies reporting negative results, are welcome.
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