A Devastating Diagnosis

When 14-month-old Westin’s head began dropping unexpectedly, his mom, Jennifer Hopper, knew she was watching more than just infant reflexes.

“I had a gut feeling that something wasn’t right,” said Jennifer. “I knew that infantile spasms was the worst case scenario for Westin.”

After several days of these movements, Jennifer took her son to the Emergency Department at Le Bonheur Children’s Hospital. Within 24 hours Westin was diagnosed with infantile spasms – a type of infantile epilepsy that can wreak havoc on a child’s development.

Le Bonheur’s Neuroscience Institute recently launched the Infantile Epilepsy Center to help children like Westin get a quick diagnosis and individualized, multidisciplinary treatment. Thanks to this approach, early intervention is saving the lives of infants and improving their developmental outcomes.

More Than Just Small Kids

Infantile epilepsy is a group of rare seizures that typically affect children younger than 2 years old. The seizures typically present as small involuntary movements, crunches or spasms and require a rapid diagnosis to curb potential developmental delays.

“Infants are not just small children,” says Pediatric Epileptologist and Director of the Infantile Epilepsy Center, Sarah Weatherspoon, MD. “Infantile epilepsy requires specific techniques, diagnostics and treatments.”

As the only Infantile Epilepsy Center in the Southeast and one of only three centers dedicated to the condition in the country, Le Bonheur’s standardized approach provides efficient and rapid access to expert care. Infants with suspected epilepsy are quickly admitted for monitoring, diagnosis and treatment.

When children enter the center, they see a wide array of experts. These include members of the Neuroscience Institute such as pediatric epileptologists, pediatric neuroradiologists who interpret brain imaging studies, neuropsychologists for neurodevelopmental assessments and a neuro-ophthalmologist.

Care for these infants may even extend into a wider range of disciplines than neuroscience – general pediatricians, geneticists, as well as clinical nutritionists and speech therapists to monitor feeding and growth. With these resources, the Infantile Epilepsy Center is able to provide for the whole child and address the spectrum of ways their health has been impacted by infantile epilepsy.

“In order to find the underlying etiology of an epilepsy, it is important to provide state-of-the-art neuroimaging and genetic testing,” says Weatherspoon. “We are trying to consolidate our resources so that every patient has access to what they need.”

An Early Diagnosis

Westin Hopper’s diagnosis of infantile spasms is a condition which Weatherspoon often sees only after it has gone untreated for much too long.

“Unfortunately, many children are not diagnosed with infantile spasms until their brains have been severely impacted,” says Weatherspoon. “They need to be evaluated and initiate treatment within a week of when their spasms start.”

Infantile spasms typically arise between the ages of 4 to 12 months. These seizures are small and seemingly innocuous. While they don’t have the visual impact of a tonic-clonic seizure, these spasms have a large impact on development. Each week of untreated spasms leads to permanent worsening in development.

The Infantile Epilepsy Center has a variety of resources to ensure early diagnosis. Infants require an electroencephalogram (EEG), a brain wave test, in order to assess their brain activity and determine the type of seizure or event in order to choose the most appropriate treatment.

Following an EEG, an infant may undergo further testing from the Neuroscience Institute’s suite of imaging modalities including a 3T MRI, magnetoencephalogram (MEG), transcranial magnetic stimulation (TMS) and functional MRI (fMRI). These diagnostic tests allow pediatric epileptologists to localize brain lesions, determine the source of the seizures and assess an infant’s critical motor and language functions.

Fortunately for Westin, quick diagnosis preserved his motor and verbal development.

“Most children with infantile spasms are passed over in ERs and pediatrician offices,” says Jennifer. “Thanks to the team from Le Bonheur, we have a little boy who continues to improve developmentally.”

Caught quickly, treatment options can stop infantile epilepsy in its tracks. The treatment consists of adrenocorticotropic hormone (ACTH) and vigabatrin, often used in combination. With these medications, spasms can disappear in as little as a few days. The Infantile Epilepsy Center also uses other treatments such as ketogenic diet and epilepsy surgery to help control infantile epilepsy.

Improving Outcomes

Le Bonheur’s outcomes for infantile epilepsy continue to improve, thanks to early detection and individualized therapies.

Of the patients with infantile spasms who were treated with a combination of ACTH and vigabatrin, 91% were spasm free at two weeks and 73% were spasm free after six months.

“Time to treatment makes a huge difference in long-term outcomes,” says Weatherspoon. “Anything that shortens this time is critical for positive outcomes for development and seizure relief.”

One of Weatherspoon’s goals is to continue education for families and pediatricians around the country of the effects of infantile epilepsy so that infants are diagnosed faster. Babies change, and their development can deteriorate rapidly. If families know what to look for and doctors know how to recognize it and refer appropriately, the treatment process for infantile epilepsy will flow smoother and quicker.

Westin Hopper is just one child who has benefited from the Infantile Epilepsy Center’s efforts for early diagnosis and treatment. Although his verbal development is still in progress, he is making strides in his physical, occupational and speech therapies.

“With a rare diagnosis like Westin’s, we were grateful to have a team providing a variety of options and answers,” says Jennifer. “Because of correct tests and treatments, we have a little boy who you can’t tell has infantile spasms.”

Meet the Infantile Epilepsy Center Team