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What is Dravet Syndrome

Dravet Syndrome, first described by Dr Charlotte Dravet in 1978, ( also known as Severe Myoclonic Epilepsy in Infancy –SMEI). It is a combination of Epilepsy, Autism and Attention deficit disorder. An estimate of one in every 20,000 people has Dravet.
Seizures begin during the first year of life. First seizures occur with fever, are generalised tonic clonic (grand mal). These seizures are often prolonged and difficult to control and require emergency treatment. Over months, seizures can occur without fever and other seizure types can occur such as myoclonic jerks, complex partial and absence seizures.

Most children with Dravet Syndrome have a mutation, a change in a gene called SCN1A. This gene holds the DNA code to make a protein that helps to control the electrical activity in the brain cells. This protein is called the sodium ion channel alpha subunit. Although it is a genetic mutation, it is not always inherited from a parent. Most times, it will be a new mutation that occurs in the early stages of the embryo's development.

Treatments available for Dravet syndrome are focused on improving symptons with anticonvulsant medications to help control seizures. Despite been on medications , people with Dravet syndrome will continue to have many different types of seizures.
Dravet Syndrome is a catastrophic , neurological condition causing severe seizures, and many other conditions.  These include:

  • Learning difficulties
  • Ataxia
  • Autism
  • Cognitive impairment
  • Poor development of language and motor skills
  • Hyperactivity
  • Difficulty relating to others
  • Behaviour and development delays
  • Movement and balance issues
  • Orthopaedic issues
  • Disruptions of autonomic nervous system, which regulates things such as body temperature and sweating
  • Growth and nutrition
  • Sleeping difficulties

Dravet syndrome is an uncontrollable type of Epilepsy that affects everyday life. Most young adults with Dravet syndrome will be dependant on Caregivers.  A person with Dravet syndrome has 85% chance of surviving into adulthood. This disorder is very rare, little is known about it and research is ongoing. Treatment for Dravet syndrome is currently only with a particular group of anti convulsants to help control the seizures. Dravet syndrome is one of the more severe types of childhood seizure disorders in which control of seizures is very poor.

 

 

 

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Last Update 11 February, 2017 16:14