Study: Most Newborns with Epilepsy Benefit from Genetic Testing

Data show that the majority of neonatal epilepsy is linked to identifiable genetic causes, which may help guide treatment and family genetic counseling.

7:00 AM

Author | Beata Mostafavi

Because of genetic testing, Orion Maynard's parents knew the cause of his epilepsy weeks after he was born. The results influenced his treatment, qualified him for immediate intervention services and led to the discovery that future siblings had a 50 percent chance of being born with the same condition.

MORE FROM THE LAB: Subscribe to our weekly newsletter

Most newborns with epilepsy like Orion would benefit from genetic testing because the majority of cases are linked to identifiable genetic causes, finds a new study led by University of Michigan C.S. Mott Children's Hospital.

In the study, among 29 babies with epilepsy not linked to congenital brain malformations, 83 percent had a genetic cause. Research published in Neurology analyzed data from the Neonatal Seizure Registry that includes enrollees from seven children's hospitals, including Mott.

A parallel, multisite study in JAMA Pediatrics, for which Mott was a major contributor, found similar results for children under age 3.

"The younger the epilepsy begins, the more likely we are to find a genetic cause that may help with treatment," says Renee Shellhaas, M.D., a pediatric neurologist at Mott and the lead author of the Neurology work.

"Parents and physicians always want to know why a specific child develops epilepsy. Genetic testing benefits our youngest epilepsy patients and their families because it can not only assist with their care and prognosis but also in connecting families with condition-specific support groups and specialists, access to research studies and counseling about family planning."

Genetic testing involves a simple blood test but is not always approved by health insurance providers.

"These findings reinforce that genetic tests are incredibly valuable for childhood epilepsy, yet we still struggle getting them covered because of the cost," Shellhaas says.

"We need to work on a broader policy level to increase access to appropriate genetic testing for children with epilepsy. Finding the reason for a child's epilepsy provides comfort and closure for families, helps them to connect with other families, can allow for tailored treatment and ends the diagnostic odyssey faced by so many of our patients. Genetic testing is a standard of care for children with global developmental delays; our research results suggest we should consider a similar standard for children with epilepsy."

Orion Maynard and his parents Lindsay and Robin.

Genetic testing, early intervention                         

For Orion's parents, Lindsay and Robin, the test brought important answers after their baby boy began having back-to-back seizures at just a few days old.

SEE ALSO: Are Doctors Overmedicating Newborns with Seizures?

Orion was referred to Mott, where he was diagnosed with epilepsy. A genetic test easily found the source: a missing piece of one of his chromosomes (16p13.11). A few months later, both parents had the same test and learned Lindsay was a carrier.

The test also helped with immediate eligibility for Early on Michigan, which offers early intervention and services for families with children under 3 who are experiencing developmental delays, disabilities or special needs. Now 3 years old, Orion has benefited from several of the program's resources, including speech, physical and occupational therapy.

"Without the testing, we may not have qualified for the program until he was closer to 1½ or 2, when speech and motor development delays were noticeable," Lindsay says. "Orion has been getting services since he was 3 months old."

Evidence needed

Shellhaas' findings come on the heels of a separate study she also led, which analyzed how clinicians treat epilepsy in children under 3 across 17 pediatric epilepsy centers in the U.S. The work, published in Pediatric Neurology, found that even though there are 20 different anti-seizure medications, the drug levetiracetam is most commonly prescribed.

SEE ALSO: Telemedicine: Improving Access to Care for Pediatric Epilepsy

She says this consistency in practice is surprising because there are no evidence-based guidelines on the preferred approach to treating early life epilepsy.

"Even though clinicians seem to have informally agreed on the best way to start treating early life epilepsy, that doesn't mean it is evidence-based treatment," Shellhaas says. "We don't have that much data on how a lot of medicines influence the developing brain. We are working hard to change that."

Factors in the preference toward levetiracetam could include that the medication has a generic form, doesn't have interactions with other drugs, and can be taken as a liquid or given through an IV. More study on its efficacy is needed.

"We have to keep working to find the best way to diagnose and tailor treatment as early as possible in a child's life," Shellhaas says. "If you can improve the way a child's neurodevelopment begins early on, you've influenced his or her ability to grow, develop and participate in society. That not only benefits the child but the whole family."


More Articles About: Rounds epilepsy CS Mott Children's Hospital Neurological (Brain) Conditions
Health Lab word mark overlaying blue cells
Health Lab

Explore a variety of healthcare news & stories by visiting the Health Lab home page for more articles.

Media Contact Public Relations

Department of Communication at Michigan Medicine

[email protected]

734-764-2220

Stay Informed

Want top health & research news weekly? Sign up for Health Lab’s newsletters today!

Subscribe
Featured News & Stories Epilepsy tracking for children and teens
Health Lab
Preparing Adolescents With Epilepsy to Manage Care through Adulthood
Assessment tool helps doctors ensure adolescents and young adults with epilepsy have the skills and confidence they need to take control of seizures and health care.
Breaking Down Mental Health on blue background and text inside a yellow head graphic
Breaking Down Mental Health
Depression and Sleep
In this episode, learn to understand the interplay between depression and how cognitive behavioral therapy can improve sleep.
Provider takes a pulse oximetry reading from a patient's finger
Health Lab
Inaccurate pulse oximeter readings could limit transplants, heart pumps for Black patients with heart failure
Racially biased readings of oxygen levels in the blood using pulse oximeters may further limit opportunities for Black patients with heart failure to receive potentially lifesaving treatments, such as heart pumps and transplants
Patient lies in hospital bed after surgery with bandage on head, displays toys later after recovery
Health Lab
Lifechanging results for young woman after orange-sized brain tumor removed
Young woman thrives after surgery to remove a pilocytic astrocytoma tumor in her brain.
Three year old patient poses by Wonder Woman statue, wears costume
Health Lab
Three-year-old Wonder Woman making strides after customized spinal procedure
Three year old Wonder Woman fan thrives after customized minimally invasive selective dorsal rhizotomy to help symptoms of cerebral palsy and spastic diplegia
Illustration of neuron cell
Health Lab
Two genes linked to autism implicated in brain cell connectivity
A new study links two autism-associated genes together for the first time, potentially revealing a mechanism behind brain changes seen in people with autism.