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Diagnoses: Dravet’s Syndrome and Epilepsy

20 January, 2012

Epilepsy is a common neurological disorder, characterised by seizures.  It can affect anyone – young or old, male or female, rich or poor, tall or short… epilepsy occurs across all cultures and all boundaries – even some animals can have epilepsy.

While for most people, epilepsy can be controlled with medication and makes only a small impact on their life, for others Epilepsy is more pervasive.

There is a specific form of epilepsy called Dravet’s Syndrome.  It was studied and named by a French psychiatrist named Charlotte Dravet.  It is also called Severe Myclonic Epilepsy of Infancy (or SMEI).

Dravet’s Syndrome is characterised by febrile convulsions, or tonic-clonic seizures (also known as general seizures).  These seizures are the “classic” type that everyone seems to think of when you say seizures – fall to the ground, with whole body shakes, eyes roll back into the head.  For children with Dravet’s syndrome, they generally begin before the age of one and reoccur about one to two months later.  Then the myclonic seizures or jerks begin.  These seizures are very brief – and consist of a sudden muscle jerk.  The child remains conscious during the seizure. This seizure is one type of “partial” seizure (as opposed to general seizure).

People with Dravet’s syndrome can develop other types of seizures also.  The other type of seizure that happens in our home is an atonic seizure.  This seizure lasts between one and ten seconds (usually one to two seconds here) and is characterised by a sudden loss of muscle tone.  They are also called drop seizures as the loss of muscle tone will cause the person to suddenly drop to the floor if they are standing up.

In most cases of Dravet’s Syndrome, it is difficult to completely control the seizures with medication.

Unfortunately, Dravet’s syndrome doesn’t simply cause the inconvenience of seizures and medication.  People with Dravet’s syndrome usually have developmental delay across some or all areas, with speech/language development being the most significantly affected. Most children with Dravet’s syndrome have significant developmental delays across all or most developmental areas.

Dravet’s Syndrome is usually caused by a gene mutation.  Generally, those who have the mutation, have Dravet’s syndrome so it is not generally “genetic” in that parents pass it on to their children, and may have other children with Dravet’s syndrome.  The genetic mutation occurs while the baby develops.  On rare occasions a parent may have the gene mutation and pass it on to the child. At present, the blood taken for the genetic test is sent to Glasgow, Scotland, and takes many months to return a result.

Epilepsy affects between one and two percent of the general population (ie 1-2 in every 100).  Dravets syndrome affects somewhere between 1-20,000 and 1-40,000 people (0.005% to 0.0025%).  On that average, you would expect that 500-1200 people living in Australia had this condition (and less than 350,000 world wide). I don’t know about you, but those numbers help me conceptualise it all.  As a comparison, Down Syndrome occurs in 1 in 660 births, Congenital Muscular Dystrophy in 1 in 10,000 births, and Cornelia de Lange Syndrome in 1 in 10,000 to 30,000 births.

Dravet’s Syndrome is not something that will go away, or can be grown out of.  The symptoms can be managed and treated but they will always be there.

3 Comments leave one →
  1. DaughterofEve permalink
    20 January, 2012 1:55 pm

    Once again, a very helpful summary. Thanks Liz, helps me understand other things better.

  2. 21 January, 2012 10:13 am

    Wow. Thanks for the explanation Liz.


  1. Diagnoses: An Update « We Learn 4 Fun

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