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":"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。","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":"<p><strong>Objectives: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.</p>","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":"{\"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\":\"<p><strong>Objectives: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.</p>\",\"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. 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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.
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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