The aim of this study was to investigate language disorders prospectively in patients with Dravet syndrome (DS) during the first years of life in order to identify their features and possibly the underlying mechanisms of the disease. At the Child Neurology Unit of Catholic University in Rome (Italy), thirteen patients with typical findings of DS were enrolled in the study. Full clinical observations, including neurological examination and long-term EEG monitoring, were prospectively and serially performed until a mean of 6years of age (range: 4years to 7years and 8months). The epileptic history was also collected in each case. In particular, developmental, cognitive, and detailed language assessments were performed with different tests according to the age of the patient. In addition to cognitive decline, characteristic language impairment was also found with a relative preservation of receptive abilities (comprehension) and a strong impairment of productive skills. This defect in sensorimotor verbal processing integration is discussed to highlight the possible mechanisms underlying cognitive decline.
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http://dx.doi.org/10.1016/j.yebeh.2015.10.027 | DOI Listing |
variants cause a range of epilepsy syndromes, including Dravet syndrome, leading to early cognitive and functional impairment. Despite advances in medical management, drug-resistant epilepsy remains common. Vagal nerve stimulation (VNS) has been suggested reducing seizure frequency in these patients but there is a lack of long-term follow-up, quantitative analysis that corrected for confounding factors such as antiseizure medications (ASMs) and the impact of VNS settings on response.
View Article and Find Full Text PDFTransl Pediatr
December 2024
Pediatric Neurology Division, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Transl Pediatr
December 2024
Karachi Medical and Dental College, Karachi, Pakistan.
Eur J Paediatr Neurol
January 2025
Dravet Syndrome UK, Chesterfield, UK.
Objectives: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro, Jongno-Gu, Seoul 03080, Republic of Korea. Electronic address:
Objective: The present study aimed to investigate the initial clinical features of infantile-onset genetic epilepsy and compare initial seizure variables and responses to sodium channel blockers between SCN1A and non-SCN1A group.
Methods: We selected 122 patients, comprising 58 patients with SCN1A mutations and 64 patients with mutations in other than SCN1A, from our institutional database.
Results: Patients identified in the SCN1A group tended to present with fever, prolonged seizure duration, and hemiclonic seizure semiology.
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