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Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case
Martina Giorgia Perinelli1, Cecilia Naboni1, Ganna Balagura1
1Department 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.
Family-centered early intervention (EI) for CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) improved neurodevelopment. Prompt assessment of cerebral visual impairment (CVI) enhanced outcomes in a young patient.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked disorder.
- Early Intervention (EI) promotes neuroplasticity but lacks specific protocols for CDKL5-DEE with cerebral visual impairment (CVI).
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