Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

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

{"title":"Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.","authors":"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","doi":"10.1212/CPJ.0000000000200287","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11042840/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology. Clinical practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1212/CPJ.0000000000200287","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/19 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

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.

查看原文本刊更多论文

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。

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。

求助全文

约1分钟内获得全文求助全文

来源期刊

Neurology. Clinical practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

0.00%

发文量

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.