Drs

Dravet Syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Seizures, developmental delay
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Anticonvulsants, ketogenic diet
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Dravet Syndrome is a rare and severe form of epilepsy that begins in infancy. It is characterized by prolonged seizures that are often triggered by fever or hot temperatures. Dravet Syndrome is a lifelong condition that can significantly impact the quality of life of affected individuals and their families.

Etiology

Dravet Syndrome is primarily caused by mutations in the SCN1A gene, which encodes a subunit of a sodium channel that is crucial for the proper functioning of neurons. These mutations lead to dysfunctional sodium channels, which in turn cause the hyperexcitability of neurons and result in seizures. While most cases are due to de novo mutations, there is a small percentage of cases that are inherited in an autosomal dominant manner.

Clinical Presentation

The onset of Dravet Syndrome typically occurs in the first year of life, often around 5 to 8 months of age. The initial seizures are usually febrile seizures, which are seizures associated with fever. As the child grows, other types of seizures may develop, including myoclonic seizures, tonic-clonic seizures, and absence seizures.

Developmental Impact

In addition to seizures, children with Dravet Syndrome often experience developmental delays. These can include delays in language, motor skills, and social interaction. Over time, some children may develop features of autism spectrum disorder and have difficulties with attention and hyperactivity.

Diagnosis

The diagnosis of Dravet Syndrome is based on clinical criteria and confirmed by genetic testing. A detailed medical history and electroencephalogram (EEG) are essential components of the diagnostic process. Genetic testing can identify mutations in the SCN1A gene, which confirms the diagnosis in approximately 80% of cases.

Management

Management of Dravet Syndrome is challenging and requires a multidisciplinary approach. The primary goal is to control seizures and minimize their impact on the child's development.

Pharmacological Treatment

Several anticonvulsant medications are used to manage seizures in Dravet Syndrome. These include valproate, clobazam, and stiripentol. However, some common antiepileptic drugs, such as carbamazepine and lamotrigine, can exacerbate seizures and should be avoided.

Dietary Therapy

The ketogenic diet, a high-fat, low-carbohydrate diet, has been shown to reduce seizure frequency in some children with Dravet Syndrome. This diet should be implemented under the supervision of a healthcare professional.

Other Therapies

In addition to medication and dietary therapy, other treatments such as vagus nerve stimulation and cannabidiol (CBD) have been explored for seizure control in Dravet Syndrome.

Prognosis

The prognosis for individuals with Dravet Syndrome varies. While some children may experience a reduction in seizure frequency as they grow older, others may continue to have frequent and severe seizures. Developmental delays and cognitive impairments are common, and ongoing support and therapy are often necessary.

Research Directions

Ongoing research is focused on understanding the genetic and molecular mechanisms underlying Dravet Syndrome, as well as developing new treatments to improve outcomes for affected individuals. Gene therapy and novel pharmacological agents are areas of active investigation.

See Also

• Epilepsy
• Genetic disorders
• Neurology