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

التفاصيل البيبلوغرافية
العنوان: Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.
المؤلفون: Perinelli MG; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Naboni C; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Balagura G; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Amadori E; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Vari MS; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Capra V; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Lentoiou C; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Foiadelli T; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Sirchia F; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Luparia A; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Marseglia G; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Ramenghi LA; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy., Striano P; Department of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
المصدر: Neurology. Clinical practice [Neurol Clin Pract] 2024 Jun; Vol. 14 (3), pp. e200287. Date of Electronic Publication: 2024 Apr 19.
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, MD : Lippincott Williams & Wilkins
مستخلص: 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.
Competing Interests: The authors report no relevant disclosures. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.
(Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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تواريخ الأحداث: Date Created: 20240425 Latest Revision: 20240426
رمز التحديث: 20240426
مُعرف محوري في PubMed: PMC11042840
DOI: 10.1212/CPJ.0000000000200287
PMID: 38660576
قاعدة البيانات: MEDLINE
الوصف
تدمد:2163-0402
DOI:10.1212/CPJ.0000000000200287