DESCRIPTION
EMAS is one of many forms of childhood epilepsy. It is unique because it mostly causes myoclonic-atonic seizures. Children with EMAS usually have normal development before any seizures begin. However, a small number of children with EMAS have mild delays prior to having seizures.
The first seizure in EMAS usually occurs between 2 and 6 years of age.
In 1 in 4 children, the first seizure occurs during a fever. Boys have EMAS more often than girls.
Children with EMAS mostly have generalized seizures, or seizures that affect the whole brain. Focal seizures affect only one part of the brain, and they are rarely reported in EMAS. EMAS can include multiple types of seizures, such as:
Sometimes, in EMAS, seizures can change a child’s level of consciousness. This can happen without obvious signs of a seizure. For instance, there may be no jerking. When this occurs and goes on for a long period of time, it is called nonconvulsive status epilepticus.
Myoclonic-atonic seizures
Tonic seizures
Tonic-clonic seizures
Absence seizures
Sometimes, in EMAS, seizures can change a child’s level of consciousness. This can happen without obvious signs of a seizure. For instance, there may be no jerking. When this occurs and goes on for a long period of time, it is called nonconvulsive status epilepticus.
SIGNS AND SYMPTOMS
Main Symptoms
The primary symptom of EMAS is having myoclonic-atonic seizures.
Developmental setbacks, however, are also a symptom. They are seen as EMAS evolves. When seizures begin, a child’s development is usually normal or only mildly delayed. Developmental setbacks begin around the same time as the seizures. Many researchers believe that the seizures contribute to the developmental setbacks, even though there could be a different cause underlying both.
Parents of children with EMAS may report:
- Regression (a loss of milestones)
- Developmental plateau (a failure to gain additional skills)
Stormy Phase
Most children experience an active phase, when seizures can get very frequent and there are many seizure types. This seizure activity, along with the setbacks, is known as the “stormy phase.”
Other Symptoms
Other symptoms that can appear alongside setbacks include:
- Poor balance
- Speech and language problems
- Poor memory
- Poor attention
- Behavioral challenges
- Features of autism spectrum disorder
Diagnosing EMAS
EMAS is diagnosed when families or doctors notice myoclonic-atonic seizures. Doctors can learn a little about the seizures from a clinical exam and health history. They may ask about seizure types and when seizures began. They will often use lab investigations to learn more.
Other factors that point to an EMAS diagnosis include:
- Development that had been normal or close to normal prior to seizures
- Seizures that began between 2 and 6 years of age
- Normal brain imaging results
- No other known reasons for these seizures (they can also be caused by a disorder called GLUT1 syndrome)
Doctors may order the following laboratory tests:
- Electroencephalogram (EEG). An EEG measures electrical activity in the brain. It can show if a child is having myoclonic-atonic seizures. However, it can only show this if the seizures are recorded during the EEG.
- Magnetic resonance imaging (MRI). MRI results are usually normal in children with EMAS. MRI can help to rule out other forms of epilepsy.
- Genetic testing. Genetic testing can try to identify a gene associated with EMAS. It can also make sure that serious genetic disorders that look like EMAS are not missed.
Resources
ORGANIZATIONS/GROUPS
Doose Syndrome Epilepsy Alliance
Doose Syndrome Epilepsy Alliance (DSEA) exists to improve lives for those living with Doose syndrome and their families. DSEA provides a chance to connect with other families through their Doose Foundation private Facebook group. The DSEA website provides important Resources for Next Steps, Finding Support, Newly Diagnosed, and much more.
The Epilepsy Leadership Council is made up of individuals representing organizations serving individuals with epilepsy and their families, as well as professionals, and governmental organizations. The mission is to develop and coordinate among its members shared projects that will have a positive impact on the lives of individuals with epilepsy, focusing on those areas where working together produces greater efficiency and impact than working independently.
For a list of more than 40 professional societies, patient advocacy organizations, and governmental agencies, please click here.
Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance (formerly known as The Brain Recovery Project) enhances the lives of children who need neurosurgery to treat medication-resistant epilepsy. They empower families with research, support services, and impactful programs before, during, and after surgery. PESA’s programs include research-based, reliable information to help parents and caregivers understand when a child’s seizures are drug-resistant; the risks and dangers of seizures; the pros and cons of the various neurosurgeries to treat epilepsy; the medical, cognitive, and behavioral challenges a child may have throughout life; school, financial aid, and life care issues. PESA’s resources include a comprehensive website with downloadable guides, pre-recorded webinars, and virtual workshops; an informative YouTube channel with comprehensive information about epilepsy surgery and its effects; a private Facebook group (Education After Pediatric Epilepsy Surgery) with over 300 members; Power Hour (bi-monthly open forums and live virtual workshops on various topics); and free school training to help your child’s education team understand the impact of their epilepsy surgery in school. Their Peer Support Program will connect you with a parent who has been there. The Pediatric Epilepsy Surgery Alliance also hosts biennial family conferences and regional events that allow families to learn from experts, connect with other families, and form lifelong friendships. They also provide a travel scholarship of up to $1,000 to families in need to fund travel to a level 4 epilepsy center for a surgical evaluation.
In addition, PESA has resources for medical professionals to assist in helping clinicians help the parents of their patients find the resources they need after surgery. Educators and therapists will also find helpful resources and information, including videos, guides, and relevant research. Patients who have undergone surgery are encouraged to register with the Global Pediatric Epilepsy Surgery Registry to help set future research priorities.
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