What is Dravet Syndrome?

SMEI (Severe Myoclonic Epilepsy of Infancy)

In Shazza Language

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Including conclusions brought about with other parents of kids with Dravet Syndrome, specifically members of the SMEI Yahoo Email Group
Date of Submission 26th January 2004

How Does this Condition Evolve?
Primarily the start of the condition includes a clonic seizure that is associated with a fever. The seizure may affect one side of the body or both, sometimes changing. Within a few months another seizure occurs very similarly to the first. These seizures are usually status epilepticus, meaning basically they last too long. In some kids myoclonic seizures then follow.
The first seizure the child has occurs in the first year of life and seizure control is very difficult to obtain. Unfortunately at about age 1 development slows considerably and doesn't pick up again until 4. Some regression in development can occur. Meaning that children can lose skills during this time. Most or all children will grow up and have at least some form of mental retardation, varying in degrees.

These kids can and usually do have a wide variety of seizure types. The seizures are frequent and often reach status epilepticus. After the first two clonic seizures, fever may or may not be present.

Although the syndrome name includes "Myoclonic" it does not necessarily mean that the child will have myoclonic seizures although many children do go on to have them.

On observation it appears that all children with Dravet syndrome appear to have more of a problem with speech then any other developmental skill.

What are Clonic Seizures?
A continuous punching action that occurs without stiffening of the body.

What are Myoclonic Seizures?
Myoclonic seizures are quick jerks, usually singular and can be mistaken for a startled reflex. The myoclonics may occur in clusters (meaning a lot of jerks in a group) sometimes lasting hours. The person experiencing myoclonic seizures are fully awake and aware of what is happening. Myoclonic seizures can be as subtle as a chin twitch and as vicious as to knock a person to the floor.

What other Seizure Types can Dravet Syndrome Children Experience?
All seizure types, but here are the main ones:
Tonic Clonic: Child goes stiff, becoming unconscious, followed with punching of the arms and legs.
Tonic: The body goes stiff
Atonic: The body goes limp
Absent Seizures: Staring of for a second or so.
Complex Partials: Complex and repetitive movement with little or no awareness of what they are doing. Includes: Chewing, strange movements perhaps with just one or more appendages (arm, leg, head etc.), as an example, some may dress and undress.
Simple Partials: Same as Complex Partials only the child is fully aware of what they are doing but are unable to control or stop it.

Many children will have a combination of seizure types all in the one go.

Diagnosing Dravet Syndrome
Is based on clinical observations. This includes the child's seizure history and EEG records, many children will have a normal EEG reading early on, that will then start showing specific abnormalities as the syndrome progresses. In some cases a genetic link has been found. A test can be performed (in research phase) to determine if a child has this gene mutation, called SCN1A mutation. This is not however conclusive as some children although diagnosed with SMEI do not have this mutation.

Seizure Triggers Specific to Dravet Syndrome:
Heat can be a trigger for seizure activity in these children

The usual triggers for seizures are also sometimes present including:
Being tired, or lack of sleep
Illness and often fever
Over excitement
Being outside of their comfort level

Best treating drugs for Dravet Syndrome suggest:
Valproate (Sodium Valproate, Valproic Acid, Epilim) etc.
Benzodiazepines (Clonazepam, Lorazepam)
Stiripentol - Great expectations here but not easily available
Topiramate (Topamax)
Ethosuximide (Zarontin)

Drugs to stay away from:
Lamotragine (Lamictal)
Carbamazepine (Atretol, Depitol, Epitol, Tegretol)
Some research also suggests Phenytoin (Dilantin) can also aggravate

For the medical version by Dr Charlotte Dravet please check out this site click here

Disclaimer: The materials provided at this site are for informational purposes and are not intended for use as a diagnosis or treatment tool or as a substitute for consulting a licensed medical professional. Please remember I am just a mum and have absolutely no medical expertise what so ever. This site will not be held responsible for any inaccuracy's present.

Copyright 2004. All rights reserved.