Doose syndrome is a rare form of epilepsy that begins in early childhood. This condition is also known as myoclonic atonic epilepsy and myoclonic atonic epilepsy.
Doose syndrome is considered a generalized epilepsy. Seizures in Doose syndrome can be difficult to treat with medication. As children enter adolescence or adulthood, they may improve and may no longer need treatment.
Epilepsy is a tendency to have recurring seizures. Doose syndrome is an epilepsy syndrome. There are many different epilepsy syndromes. Epilepsy syndromes have certain characteristics, such as age at seizures, type and frequency of seizures, associated symptoms, and inheritance patterns.
The first episode of Doose syndrome usually begins between 7 months and 6 years of age. This condition can affect children who were previously healthy and reached developmental milestones such as walking, talking, and socializing on time. Recurrent seizures may begin weeks or months after the first seizure.
Seizure types in Doose syndrome include:
Atonic seizures: Atonic seizures involve a sudden loss of muscle tone, and they can cause children to drop objects or fall. Children who experience atonic episodes are not conscious during the episodes and may not remember them.
Myoclonic seizures: Myoclonic seizures are characterized by sudden twitching of a muscle or muscle group. Their duration may last from a few seconds to a few minutes.
Myoclonic resting seizure: This is a type of seizure that is not common in other types of epilepsy except Doose syndrome. This type of seizure begins with a myoclonic seizure, followed by an atonic seizure.
Absence Seizures: Absence seizures, formerly known as petit mals, occur in many childhood epilepsy syndromes. These seizures are often described as staring spells. During these seizures, children are often unresponsive and unaware of their surroundings for a few seconds.
Absence seizures do not involve shaking or jerking movements and do not result in impaired muscle tone. People don’t remember events that happened during an absence seizure or that they ever happened.
Generalized tonic-clonic seizure: A generalized tonic-clonic seizure is a type of seizure that involves jerking and shaking on both sides of the body and impaired consciousness. They are usually accompanied by severe fatigue.
Children with Doose syndrome often experience several types of seizures on a regular basis. The severity of the condition varies, with some children having many seizures per day and others having several seizures per week.
Some children with Doose syndrome may experience other effects besides seizures.
Some children with Doose syndrome have features of ataxia (difficulty in coordination), dysarthria (slurred speech), or autism (difficulty expressing themselves and interacting with others).
Duss syndrome can cause several health problems with long-term effects. A fall seizure is a sudden fall that occurs during or after a seizure. This could result in serious bodily injury.
Status epilepticus is a type of seizure that does not resolve on its own. These seizures interfere with breathing and require urgent medical intervention. Status epilepticus is a rare complication of Doose syndrome.
Developmental regression, the loss of already developed physical or cognitive abilities, can also occur.
No known risk factor is unequivocally associated with Doose syndrome, and often there is no specific cause or trigger for individual seizures. However, common seizure triggers, including fever and fatigue, can trigger a seizure. Photosensitive seizures can also occur in response to flashing lights.
The seizures that occur in Doose syndrome are generalized seizures, which means they start with abnormal neural activity throughout the brain. This is in contrast to focal seizures, which start with abnormal neural activity in small areas of the brain and may spread throughout the brain.
Generalized seizures can lead to impaired consciousness. They can affect the tone and movement of the body, but don’t necessarily do so. For example, absence seizures do not affect muscle movement, but myoclonic and atonic seizures do—both of which can lead to disturbances and loss of consciousness.
Most children diagnosed with Doose syndrome have at least one family member with epilepsy. The condition is thought to have a possible genetic cause, but there is no clear pattern of inheritance.
Several genes are involved in this condition, including SCN1A, SCN1B, GABRG2, CHD2, and SLC6A1. Changes in one or more of these genes can cause or predispose children to Doose syndrome.
Certain features, including seizure patterns, normal childhood development, family history of epilepsy, and diagnostic test results, can identify Doose syndrome.
With Doose syndrome, the child’s physical examination is usually normal, and signs of physical defects or neurophysiological problems are not expected.
Most children with recurrent seizures will have an EEG. This test usually lasts about half an hour, but an extended EEG or nighttime EEG can also be done.
An EEG is a non-invasive brain wave test that measures the electrical activity of the brain in real time. During this test, your child will place a small metal plate on the scalp. These boards detect the electrical patterns of the brain. Each board is connected to wires that send signals to the computer so that the computer can read brain wave patterns.
What to Expect from an EEG
The EEG in children with Doose syndrome has certain patterns. This test will show generalized (whole brain) spike-wave activity with a frequency of 2 to 5 hertz (Hz). These bursts of activity may occur frequently throughout the study. When spikes are not present, overall background brain activity may be normal or abnormal.
Brain imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT), may also be done. Brain structures detected by imaging tests are usually completely normal in children with Doose syndrome.
In some cases, other tests, such as blood tests, urine tests, and a lumbar puncture, may be needed to rule out other causes of epilepsy. The outcome of Doose syndrome is expected to be normal.
This condition can be difficult to treat. Antiepileptic drugs (AEDs) used for generalized epilepsy are different from those used for focal epilepsy. In fact, some AEDs used to treat focal seizures may actually exacerbate generalized seizures.
AEDs commonly used to treat Doose syndrome include:
- Depakote (valproate)
- lamotrigine (lamotrigine)
- Capra (Levetiracetam)
Seizures may improve in some children with one AED (monotherapy), and a combination of these drugs may sometimes be needed.
In addition to AEDs, other treatments can be used to treat seizures in Doose syndrome. Steroid medications, including adrenocorticotropic hormone (ACTH), methylprednisolone, prednisone, or dexamethasone, are beneficial for some children with this disorder.
It’s not entirely clear why steroids might be beneficial. Steroids reduce inflammation and may alter hormone levels, and it has been suggested that this improvement may be related to one of these two effects. Although neither hormones nor inflammation have been directly linked to Doose syndrome, some children experience improvement with these treatments.
The ketogenic diet is another strategy considered to be one of the strategies for the treatment of refractory epilepsy, a type of epilepsy that is not well controlled with AED medications.
A ketogenic diet is a diet high in fat, adequate in protein, and very low in carbohydrates. It is thought to control seizures through a physiological process called ketosis, in which the body forms ketones as a result of a metabolic breakdown that occurs in the absence of carbohydrate intake.
This diet is extremely difficult to maintain and is ineffective unless strictly followed. That’s why it’s generally not considered an ideal approach unless medication is ineffective in controlling seizures. Children on this diet may crave sugar, bread, or pasta—a diet that younger children often cannot follow as closely as needed if they can reach for food.
While it can help reduce seizure frequency, the ketogenic diet can lead to higher levels of fat and cholesterol.
If your child is on the ketogenic diet, it’s a good idea to find a support group of other parents whose kids are on the ketogenic diet so you can share recipes and strategies.
How to use the ketogenic diet
In some cases, epilepsy surgeryConsider use in children with Doose syndrome.
If your child is diagnosed with Doose syndrome or any type of epilepsy, it is natural to be concerned about their health. Most types of epilepsy can be controlled with antiepileptic therapy. Serious health consequences, such as serious injury or death, are very rare.
As children get older, they will be able to better understand their condition and play a greater role in taking their own medicines. As your child learns to recognize the sensations that can occur before a seizure (aura), they can try to take a break from what they’re doing and reduce the chance of possible injury from a seizure.