Dravet syndrome management

  • At present there is no cure for Dravet syndrome; however it is possible to reduce the number and severity of the seizures with
    pharmacological treatments A pharmacological therapy is a medical care that involves the use of medications.
    (Anti-Epileptic Drugs: AEDs) and by avoiding triggering factors.
  • Treatment of Dravet syndrome requires comprehensive management. In addition to medications, other
    non-pharmacological A non-pharmacological therapy is a medical care that does not involve the use of medications.
    treatments may be helpful along with comprehensive care measures. The family plays a critical role.

1/ Treatments

Treatments

All treatments should be undertaken under the supervision of a medical doctor who is knowledgeable about Dravet Syndrome. Many antiepileptic treatments are available worldwide, but some may not be available or officially approved in your country. All initiation, change or modification of antiepileptic treatment must only be made with the approval of the medical practitioner who regularly follows the patient. If you should have any questions regarding treatments, you should feel free to ask this doctor.

  • Several treatments can be used for Dravet syndrome patients – both
    pharmacological A pharmacological therapy is a medical care that involves the use of medications.
    or
    non-pharmacological A non-pharmacological therapy is a medical care that does not involve the use of medications.
    .

A/ Antiepileptic Drugs

Antiepileptic Drugs are a diverse group of pharmaceuticals, used in the treatment of epileptic seizures. Worldwide a large number of Anti-Epileptic Drugs are available. They are divided into several classes.

Their use depends on the specific epileptic disorder. Some may help the patient’s condition while others may worsen it.

The availability of specific medications in your country will depend on governmental regulation and marketing decisions by the pharmaceutical manufacturer.

Dravet syndrome is a highly pharmacoresistant epilepsy, meaning that the seizures are difficult to control which means that many patients are treated with more than one antiepileptic drug.

1- Frequently used treatments

Several antiepileptic drugs are used to treat Dravet syndrome patients. Their use depends on their local availability.

Should you need information regarding recommended treatments for Dravet syndrome patients in your country please refer to your local health authorities’ guidelines or to the specialist who is regularly following the patient.

2- To avoid

For Dravet syndrome patients, the list here below indicates some of the drugs that may worsen seizures and therefore should be avoided:

  • Lamotrigine
  • Carbamazepine
  • Vigabatrin

Should you wish more information, please refer to your local health authorities’ guidelines or to the specialist who is regularly following the patient. 

3- Emergency treatments

  • Emergency benzodiazepines are used to avoid long-lasting seizures that may turn into
    status epilepticusSeizures lasting for more than 30 minutes
    or to stop status epilepticus.

Emergency home treatments are mostly fast-acting antiepileptic drugs.

If possible your medical practitioner may prescribe an appropriate medication to be used to stop long-lasting seizures. You need to be carefully instructed about how to use this medication by an expert healthcare professional.

Different forms of fast-acting antiepileptic drugs exist; the administration routes of these medications are nasal, oral or rectal.

Emergency room treatment:

Should you go to the Emergency Room, the doctor may use other treatments according to your child’s clinical state, local practice and drug availability.

b/ Other antiepileptic measures

Sometimes antiepileptic drugs are not sufficient to control seizures. After discussion with your doctor, other treatments may be considered in addition to the medications:

  • ketogenic diet
  • vagus nerve stimulation

Keep in mind that each child with Dravet Syndrome is unique and what might work for one child may not work for another. These non-pharmacological treatments have shown variable results.

1- Ketogenic diet

The ketogenic diet is a high-fat, adequate-protein, low- sugar diet. The diet forces the body to burn fats rather than sugars. Normally, sugars contained in food are converted into glucose, which is then transported around the body and is particularly important in fuelling brain function.

However, if there is very little sugar in the diet, the liver converts fat into fatty acids and ketone bodies. The ketone bodies pass into the brain and replace glucose as an energy source. An elevated level of ketone bodies in the blood, a state known as “ketosis”, can lead to a reduction in the frequency of epileptic seizures.

Several variants of this diet exist, including homemade recipes or ready-to-feed formula.

Ketogenic diet

This ketogenic diet should only be initiated and undertaken under the supervision of a doctor knowledgeable about Dravet syndrome and the ketogenic diet.

2- Vagus nerve stimulation

The Vagus nerve is a special nerve that carries motor impulses from the brain to a number of organs (lungs, heart, intestines, blood vessel …) and sensations from these organs back to the brain. Vagal stimulation may regulate epileptic seizures by an unknown mechanism of action.

Vagus nerve stimulation consists of the surgical implantation of a device under the skin of the chest, similar to a pace-maker. This device is then connected by a wire hidden under the skin to the vagus nerve in the neck.

Vagus nerve stimulation
Vagus nerve stimulation

2/ Emergency protocol

Treatments

All treatments should be undertaken under the supervision of a medical doctor who is knowledgeable about Dravet Syndrome. Many antiepileptic treatments are available worldwide, but some may not be available or officially approved in your country. All initiation, change or modification of antiepileptic treatment must only be made with the approval of the medical practitioner who regularly follows the patient. If you should have any questions regarding treatments, you should feel free to ask this doctor.

Dravet syndrome has a profound effect on family life especially when the child has long seizures that require a hospital treatment.

When there are long-lasting severe seizures, it is useful to have a well worked out plan for the child with Dravet syndrome, the parents and the siblings.

A/ Emergency protocol for the Dravet child

  • It is very difficult to predict when
    status epilepticusSeizures lasting for more than 30 minutes
    and severe seizures might occur. Whenever you leave home along your Dravet child, you might want to have the following items:
  • Cell phone to call for help
  • Status protocol to present to ambulance and emergency room professionals
  • Rescue treatments to stop long seizures
  • Diapers
  • Cereal bars or other snacks (emergency room visits may last for many hours)
  • Other medical devices (ex: oxygen bottle, suction machine…) or drugs, recommended by your physician

B/ Emergency protocol for the siblings

If you have other children you will need to make a plan for them if you have to go the hospital. Consider having a “parent on call” who will accompany the Dravet child to the emergency room. The other parent or another designated adult can stay with the other children so that they can continue with their activities and avoid the trauma of hours in the hospital environment.

3/ Comprehensive care

Treatments

All treatments should be undertaken under the supervision of a medical doctor who is knowledgeable about Dravet Syndrome. Many antiepileptic treatments are available worldwide, but some may not be available or officially approved in your country. All initiation, change or modification of antiepileptic treatment must only be made with the approval of the medical practitioner who regularly follows the patient. If you should have any questions regarding treatments, you should feel free to ask this doctor.

Comprehensive care aims to prevent and/or treat problems other than seizures that come with Dravet syndrome (co-morbidities). Treatment may not eliminate these problems but may reduce their impact on patients and their families.

A/ Fever and vaccination

Fever is one of the most frequent seizure triggering factors. Usually it is quite easy to control fever with medication. Fever has a number of causes, but most often is a sign of infection.

Preventing some infections with vaccination may be helpful.

1- Infections and fever

There is a general sense that Dravet syndrome patients are more sensitive to infections compared to others. However, they do not have any known immunological deficiency.

It is known that whenever a person with Dravet syndrome has a fever they are more likely to experience seizures. While it is true that some vaccines may cause a short fever that may trigger a seizure, it is still strongly recommended that children with Dravet syndrome receive all of the routine childhood immunizations.

A correct dose of antipyretic medication (for example, acetaminophen or ibuprofen) usually is effective to reduce fever. Remember to ask your regular practitioner for an antipyretic drug prescription.

Even if these patients are fever-sensitive, it is impossible to eliminate all infectious illnesses. They need to have as normal a social life as possible and should not be “isolated”.

2- Vaccination

Parents often fear that vaccination may trigger seizures, especially since:

  • one of vaccines’ side effects is to sometimes cause fever
  • fever in some children with epilepsy can trigger a seizure
  • the first epileptic episode for Dravet syndrome is often triggered by a fever

However, it is highly recommended to vaccinate these children to protect them from serious infectious diseases. After a vaccination, it may be reasonable to routinely give an antipyretic medication for fever prevention. Otherwise the child’s temperature should be monitored and if fever develops antipyretics can be given promptly.

B/ Environmental seizure factor

Dravet syndrome patients are sensitive to various environmental stimuli that may trigger seizures.

1- Pattern

Visual patterns (repetition of visual shapes) may trigger seizures in some patients. Although it is not always easy to avoid them, some solutions exist, such as completely masking one eye.

2- Light

Some Dravet syndrome patients may have seizures triggered by bright flashing lights such as strobe lights or sun reflected from the water at the beach. For others flashing colours and shapes may be important such as from video games or cartoons.

The following may be useful for these patients:

  • Avoid bright lights that flicker.
  • Limit the time spent in front of television and other electronic screens and reduce their contrast. Sit as far away from the screen as possible and keep the lights on in the room. Avoid watching screens in the dark.
  • Regular sunglasses may be helpful outside. The value of special filtering glasses is uncertain but may be useful for outdoor activities.

3- Temperature

An increase of body temperature is a seizure-triggering factor.

It may be sensible to avoid intensive sports, hot environment (hot rooms, hot cars…), hot baths and to prefer an air-conditioned environment. The value of cooling-vests has not been established.

C/ Associated disorders

Every child affected by Dravet syndrome is unique. He/she may experience one or more of the following associated disorders:

  • Cognitive decline
  • Behavioural and psychological issues
  • Gait difficulties
  • Sleeping and/or feeding disorders

1- Cognitive functions

  • Even though the evolution of Dravet syndrome is very individual,
    cognitive functions Any mental process that involves symbolic operations such as : perception, memory, creation of imagery, and thinking.
    are nearly always impacted.

The dimensions, severity and nature of the cognitive decline can be documented by aged-adapted standardised testing. This testing can be carried out at intervals through the patient’s life.

If available in your country, the help of a cognition specialist can be valuable to develop an early appropriate management plan and optimize cognitive progression.

2- Behavioural and psychological issues

Behavioural and psychological issues can be observed in Dravet syndrome patients that can impact their family and social life.

These factors vary from one child to another and may include hyperactivity, repetitive behaviour, opposition behaviour and problems with social interaction.

A short attention span especially when associated with hyperactivity can make life dangerous for these patients – they may not perceive a situation as risky.

Stereotypic activities are repetitive movements and behaviours that may interfere with structured play.

Oppositional behaviour may make Dravet patients difficult to manage at home and in public. Some oppositional behaviours may be linked to poor communication based on language impairment.

Many Dravet syndrome patients have difficulties to interact appropriately with children of their own age; they may prefer the company of adults. Overly trusting and friendly behaviour towards adults may lead them to danger.

3- Sleeping and/or feeding disorders

Sleeping disorders

Dravet patients may experience difficulties with sleep. The problems may include excessive sleepiness or difficulty falling asleep, maintaining sleep or awakening very early. There are many causes including unrecognized seizures or side effects from some of the anti-epileptic drugs which may be improved through dosage adjustment.

Feeding disorders

Most of the feeding disorders such as anorexia or loss of appetite are a consequence of anti-epileptic drug treatments. Dose adjustments may not be easy because of the risk of more seizures. Sometimes a psychologist can be helpful.

4- Gait and Fine Motor Skills

Dravet syndrome patients are often subject to motor impairment and postural change. These issues may become particularly important during adolescence. Gait tends to deteriorate from about nine or ten years of age, when patients gradually develop a special crouch pattern when they walk. They may have difficulty walking long distances, although usually they maintain the ability to walk around the house and for short distances. Fine motor skills are also impacted making them clumsy. Difficulties with fine motor skills may also impact reading, writing and drawing.