Dravet syndrome: The long‐term outcome

摘要: Few studies focused on the long-term outcome of Dravet syndrome in adulthood are available literature, but all concordant. In this article, we consider outcomes 24 patients followed at Centre Saint-Paul, Marseille, up to age 50, and compare them reported literature. Five (20.8%) died, a mean 24.8 years, one by status epilepticus, three sudden unexpected death epilepsy (SUDEP), unknown cause. Epileptic seizures tend become less frequent severe after childhood. Fever sensitivity (temperature variations) persists throughout clinical course DS, its impact seizure frequency severity is milder than infancy. Generalized convulsive seizures, mostly as generalized tonic-clonic (GTCS), were only type observed almost patients, often with focal onset. They childhood nocturnal. Some these major have typical aspects, for example, bilateral or asymmetric tonic posturing, some cases vibratory state clonic movements (Oguni et al., Brain Dev 2001;23:736-748; Akiyama Epilepsia 2010;51:1043-1052). Other like myoclonic atypical absences, complex partial (CPS) common adulthood: Among our 6 had seizures. Electroencephalography (EEG) also changes still multiple heterogenous, interictally ictally. Photosensitivity pattern showed tendency disappear before 20. Motor abnormalities common. Cerebellar features, including ataxia, dysarthria, intention tremor, eye movement disorder, more prominent. Walking markedly impaired, due orthopedic signs such kyphosis, kyphoscoliosis, flat feet, claw feet. This symptomatology was minor during worsened adolescence, despite physiotherapy. Mental retardation ranged from moderate severe, predominance language impairment, personality labeled autistic psychotic. Dependency nearly constant: Only 3 adult lived independently.