Infantile Spasms Not Diagnosed, Treated in Timely Fashion

Pauline Anderson

December 20, 2016

HOUSTON — A new survey has uncovered substantial delays in diagnosing and treating infantile spasms (IS), which could severely affect the outcome of these children.

Doctors have to take some responsibility for this situation, according to Shaun A. Hussain, MD, assistant professor, Division of Pediatric Neurology, University of California at Los Angeles, who participated in the research.

The goal is immediate diagnosis of IS, the same day if possible, said Dr Hussain. "Our dream is that we can get people on effective therapy quickly because in that case, patients are more likely to respond to therapy; spasms go away more quickly, and the long-term intellectual outcomes are better."

Patients getting swift treatment "are probably less likely to be autistic, more likely to survive, less likely to suffer from other types of epilepsy in the long term," he added.

Dr. Hussain discussed his study during the American Epilepsy Society (AES) 2016 Annual Meeting.

For this analysis, the researchers surveyed 100 parents of children with IS. The median age at onset was 6.6 months.

The survey showed that only 29% of patients were seen by a provider who identified infantile spasm and prescribed a first-line treatment (an "effective provider") within a week of IS onset.

The median time from IS onset to the first effective provider was 24.5 days.

In some cases, it's the parents or other family members who miss the seizures, which isn't that difficult to do, Dr Hussain. In IS, a baby's head may simply drop and his arms rise for only a few seconds, so it doesn't resemble other forms of epilepsy that may be accompanied by violent convulsions.

But for the most part, parents instinctively know something is wrong with their baby and typically bring them to the emergency department or to their pediatrician, and that's where much of the diagnostic hold-up occurs, he said.

Long Delays

The researchers found that about a third of parents got an accurate diagnosis within a month, but another third reported waiting several months. "There were several patients who went years before being diagnosed," said Dr Hussain.

Non–English-speaking parents experienced a longer delay in diagnosis, but that barrier explained only a small fraction of the delay.

Many healthcare providers discounted the suspicions of parents that something was wrong with their baby.

Part of the problem, said Dr Hussain, is that some pediatricians may not be familiar with infantile spasms. IS affects 1 in 2500 births, but while relatively rare, "it's on a short list of disorders that can cause preventable mental retardation," he said.

Common causes of IS include abnormalities of brain development that begin before birth, as well as injures such as stroke and traumatic brain injury.

Currently, the "mainstay" of drug treatment for IS includes three drugs, two of which are hormonal therapies:

  1. Prednisolone (similar to prednisone);

  2. Adrenocorticotropic hormone; and

  3. Vigabatrin (also known as gamma-vinyl-GABA)

In 50% to 75% of cases, hormonal therapies "will stop spasms cold and eliminate some harmful brain wave patterns that accompany infantile spasms," although it's not clear how, said Dr Hussain. These drugs are typically given at a high dose for 2 weeks and then tapered off over the next 2 to 4 weeks.

"The hope is that it's cured; that the seizures don't come back, that you don't get other problems, and that you go on and be a normal person."

About 20% of patients reach this point. "We would love to get that number higher, way closer to 100%," said Dr Hussain.

He and his colleagues are trying to convince doctors to be more diligent in identifying IS. "Mostly, we are standing on our soapbox and screaming that there is this problem and people have to pay attention to us," he said.

"We can encourage pediatricians and [general practitioners] to be aware of it; we can guilt trip them when they make a mistake… but I want them to learn before the mistake."

Systemic Problems

Dr Hussain also pointed out that there are problems with the healthcare system. There simply aren't enough pediatric neurologists across the country. Some states — including the Dakotas and Montana — don't have a single pediatric neurologist, he said.

But he has seen "an explosion of interest" in IS since 2012, when he finished his training. "Each year, there are more posters and presentations at this meeting."

"The ball is rolling; it's just not rolling fast enough; we want more momentum; we want more clinical trials."

Medscape Medical News asked Robert S. Fisher, MD, PhD, professor of neurology, and director of the Stanford Comprehensive Epilepsy Center, Stanford University, California, to comment on this study.

"I'm not a pediatric neurologist, so I don't take care of the children with IS, but I do take care of a number of them after they've grown up," said Dr Fisher.

"Some of them, particularly those who were treated early, are doing very well. Some of them who were not, or have other problems, are not doing so well."

He agreed with Dr Hussain that parents are "very aware that something is wrong" with their child.

"It's the doctors who may not always be aware; they may consider this indigestion or something that makes the infant startle for no reason."

He also agreed that raising awareness among doctors is important.

This study was supported by the Elsie and Isaac Fogelman Endowment, the Hughes Family Foundation, and the UCLA Children's Discovery and Innovation Institute.

American Epilepsy Society (AES) 2016 Annual Meeting. Abstract 2.087 Presented December 4, 2016.

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