Dravet Syndrome


What is Dravet Syndrome?

Severe Myoclonic Epilepsy of Infancy is another term for Dravet syndrome. This is a very uncommon genetic epileptic encephalopathy that begins in infancy but lasts for a lifetime. The infant may be healthy with no symptoms shown, to simple seizures, and then in the most severe case which is Dravet syndrome.

dravet syndrome


The seizures are hard to control and it usually starts as early as six months of age and can be triggered by fever or hot temperatures. About 80% of individuals with Dravet syndrome have a gene mutation that is the root of the problem. This condition is not genetically inherited from parents but is a child’s new mutation.

A gene called SCN1A is connected to the gene mutation of Dravet syndrome. When this gene does not work correctly, the brain cells that are helped by sodium channels to function properly does not work correctly as well. Aside from SCN1A, there are other gene mutations that can possibly affect the channels and cause Dravet syndrome. For about 20,000-40,000 births, one of them has this disorder and today, it is better recognised due to the discovery of new genetic evidence.


What are the Signs and Symptoms of Dravet Syndrome?

Dravet syndrome begins to appear at a child’s first year of life with periodic seizures that is related with fever and on the second year of life, other types of seizures start to come out.  A patient’s condition of this syndrome will become much worse as the person grows and age.

Symptoms of this condition may include:

  • Seizures that occur between infancy and as the child grows older
  • Most children have some developmental or behavioral problems
  • Mental ability impairment
  • Hyperactivity
  • Tendency to walk unsteadily
  • Having a hard time relating or coping up with the others
  • Motor skill deficits
  • Motor tone is low
  • Disorders regarding sleep
  • Delayed development of language
  • A complication in the autonomic nervous system
  • Chronic infection
  • A crouched gait
  • Balance and growth matters

How is Dravet Syndrome Treated?

Since Dravet syndrome is considered a spectrum disorder, treatments differ for each child. There are also various and multiple types of seizures in each patient so techniques like neuroimaging and EEG monitoring should be used to have the correct diagnosis as  this syndrome is usually misdiagnosed.

Daily intake of anticonvulsants can also help for the management for chronic seizure although some anticonvulsants should be avoided depending on the patient’s case. Some medications for seizures do not respond well with most patients so it is best to have the patient undergo set of numerous medical tests to monitor the condition and have the best treatment and protocol for the person.


Other treatments include:

  • Rescue medications – These are recommended by the neurologist for seizures that needs an immediate intervention.  Midazolam and clonazepam are examples of rescue medications.
  • Intravenous Immunoglobulin Therapy – This therapy is for the production of antibodies.
  • Ketogenic diet – This is the type of diet with foods that have low carbohydrates and high in fats. Despite the fact that it can help, the symptoms cannot be terminated still.
  • Cognitive rehabilitation through therapies and developmental assessments.
  • Vagus Nerve Stimulation Therapy – This is for intractable epilepsies.
  • The use of emergency protocols
  • Avoid seizure triggers – An example of this are swift environmental changes, stress, and illness.

Prognosis

Children who has Dravet syndrome do not surpass this type of condition and so it has a great impact with their daily living especially when the diagnosis is not quite clear or the current treatments are unavailable since it is limited. Available medications is still very complex and some cannot completely control a seizure therefore these children have a poor prognosis.

As the child ages, the rejection in cognitive function becomes stable and in many case, a slight improvement is found. Individuals with Dravet syndrome rarely become self-independent even if they turn indo adults since teenagers or other adults relay on caregivers.

The degree of the cognitive problems corresponds with the commonness of seizures. The continuous care and handling of an individual that has needs that are highly specialized can be very challenging for those who care for this individual. It can also drain the family financially and emotionally.

Life Expectancy

According to some research studies, the life expectancy for children with Dravet syndrome is still not very clear but is said that the cognitive function of the child will be stable after the child reaches 4 years old. As stated by the NIH, a patient with Dravet syndrome has an 85 percent chance of pulling through into adulthood.

Although the chance is great, some patients die due to a sudden unexpected death in epilepsy (SUDEP) or for an unknown reason. The symptoms of Dravet Syndrome does not fade over time and individuals with this condition need caretakers who are more than willing to fully commit themselves as well as their time.


References:

  • http://www.dravetfoundation.org/dravet-syndrome/what-is-dravet-syndrome
  • http://www.epilepsy.com/learn/types-epilepsy-syndromes/dravet-syndrome
  • http://www.dravet.org.uk/what-is-dravet-syndrome/
  • Lhatoo, edited by Simon Shorvon, Renzo Guerrini, Mark Cook, Samden D. (2013). Oxford textbook of epilepsy and epileptic seizures. Oxford [u.a.]: Oxford Univ. Press. p. 13.
  • Selmer, K.K.; Eriksson, A-S; Brandal, K.; Egeland, T.; Tallaksen, C.; Undlien, D.E. (1 October 2009). “Parental SCN1A mutation mosaicism in familial Dravet syndrome”. Clinical Genetics 76 (4): 398–403.
  • Granata, Tiziana (1 April 2011). “Comprehensive care of children with Dravet syndrome”. Epilepsia 52: 90–94.

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