If your child has recently been diagnosed with Doose syndrome - or they appear to have Doose syndrome symptoms - it can be a distressing time. Doose syndrome is, like other rare diseases, relatively little understood. This can make it confusing for those caring for a child with the condition.
To learn more, read our introduction to Doose syndrome and epilepsy diagnosis and treatment.
What is Doose syndrome?
Doose syndrome, also known as Myoclonic Atonic Epilepsy, is a rare form of childhood epilepsy. It accounts for 1-2% of epilepsies that begin in childhood. It is named after a German doctor called Herman Doose, who first described the syndrome in 1970.
Doose syndrome typically begins between the ages of two and six years, and it is a little more likely to affect boys than girls. Before the seizures begin, the child will typically have developed normally.
We still don't know exactly what causes Doose syndrome, but it is believed there is a genetic element. Most children who have Doose syndrome have a relative who also has seizures.
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Doose syndrome symptoms
Caring for a child with Doose syndrome can be challenging because they may have several seizures per day. They might also have a few different types of seizure.
Many children’s seizures begin with a tonic-clonic seizure (when the child falls to the ground and begins to shake). It is then common for children with Doose syndrome to begin having ‘drop seizures’, also known as atonic seizures. This is when the child’s body suddenly loses muscle tone and they drop to the floor.
Children with Doose syndrome often have several other kinds of seizure, including absence seizures, tonic seizures, and myoclonic jerks. Children with this syndrome may be more likely to experience status epilepticus, which is where they have seizures for more than five minutes.
Diagnosing Doose syndrome
Because Doose syndrome is a relatively rare condition, doctors sometimes struggle to diagnose it. To diagnose this type of epilepsy, a specialist will normally perform a Doose syndrome EEG. Electrodes will be attached to the child’s scalp which can detect brain activity. There are certain brain wave patterns that are associated with Doose syndrome EEG’s.
Other ways of diagnosing Doose syndrome include:
- Brain scans
- Blood tests
- Lumbar puncture
Doose syndrome treatment
Doose syndrome is often hard to treat. Although medication does help some children, the results are not always instant and the child’s doctor may need to try out a few different medications to find one that works.
An alternative to traditional medicines is the Doose syndrome ketogenic diet. The ketogenic diet is a diet where the child gets most of their energy from fats, and it has been shown to help control seizures for children with the syndrome.
Other potential treatments may include:
- Brain surgery
- Vagus nerve stimulation
Outlook: can you outgrow Doose syndrome?
The outlook for children with Doose syndrome varies. For at least half of children with this kind of epilepsy, they are able to find a treatment which works for them. These children typically go on to develop normally with no further difficulties.
However, other children with Doose syndrome struggle with treatment and this can cause significant delays to their development. They may struggle with learning difficulties and live with several seizures per day.
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The importance of support
If your child has been diagnosed with a rare disease like Doose syndrome, it can be very overwhelming trying to understand what this condition means for your child and their future. The child’s epilepsy treatment team will normally be able to provide lots of information, as well as telling you about possible new treatments and scientific studies.
But beyond your treatment team, it is also important to seek out support networks in the epilepsy community. There are dedicated organizations for Doose syndrome and epilepsy (such as Doose Syndrome Epilepsy Alliance) as well as support groups aimed at families and carers of children who have this condition. It’s also important to take care of yourself too.
To find out about support groups, speak with your child’s doctor or search online for organizations near you.