What is it?
Dravet syndrome, formerly known as severe myoclonic epilepsy of infancy (SMEI), is a genetic epilepsy disorder that begins in infancy or early childhood. It is characterized by temperature-sensitive or febrile seizures, treatment-resistant epilepsy, and developmental differences in childhood. The condition is considered a severe form of epilepsy, and it is estimated to account for roughly 10% of cases of epileptic encephalopathies in children.
What are its symptoms?
The primary symptoms of Dravet syndrome include frequent and prolonged seizures, often triggered by high body temperature (febrile seizures). The seizures associated with Dravet syndrome may manifest in various forms, including generalized tonic-clonic seizures, myoclonic seizures, and focal seizures. These seizures can be difficult to control with traditional antiepileptic medications. Additionally, individuals with Dravet syndrome may experience developmental delays, cognitive impairment, speech difficulties, motor coordination problems, and behavioral challenges.
What do I need to consider?
Dravet syndrome is primarily caused by mutations in the SCN1A gene, which encodes a sodium channel in the brain. The condition is typically not inherited from parents but occurs as a result of spontaneous genetic mutations. It is important to note that Dravet syndrome is a lifelong disorder, and management involves a comprehensive approach to control seizures, minimize complications, and provide supportive care. Treatment options may include antiepileptic medications, dietary therapies (such as the ketogenic diet), and various supportive therapies like speech therapy, physiotherapy, and occupational therapy. Early intervention and ongoing medical management play a crucial role in optimizing the quality of life for individuals with Dravet syndrome.
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References
- Children’s Hospital of Philadelphia | National Organization for Rare Disorders (NORD) | National Institute of Neurological Disorders and Stroke (NINDS) | Epilepsy Foundation | Dravet Syndrome Foundation | Cleveland Clinic | Wikipedia | Dravet Syndrome Foundation Canada | UCSF Benioff Children’s Hospitals