Autism Frequently Missed in Children With Epilepsy

Allison Shelley

December 08, 2011

December 8, 2011 (Baltimore, Maryland) — Despite problems, many children with epilepsy are not evaluated for autism or developmental delay.

"Systematic screening should be routine for all children seen in epilepsy clinics," Anne Berg, PhD, from Children's Memorial Hospital in Chicago, Illinois, told reporters attending a news conference here at the American Epilepsy Society (AES) 65th Annual Meeting.

In a study presented here, the investigators tracked children younger than 5 years seen at an epilepsy monitoring unit and a ketogenic diet clinic for about half a year. They asked parents of the 44 children to complete the Ages and Stages Questionnaire, as well as an autism screening tool.

Most of the children (77%) screened positive for developmental delay; of these participants, a strong proportion (36%) had autism.

More than a third of patients had not been previously diagnosed as having developmental delay or autism and were referred for confirmatory evaluation.

Screening Gap

"It's important that screening be right there at the beginning to help improve cognitive development," Dr. Berg told Medscape Medical News. "We are concerned that when pediatricians send patients to neurologists, they assume additional screening is taking place, but neurologists may think pediatricians are taking care of that, and a gap is occurring."

Breanne Fisher, RN, MSN, CPNP, and Catherine Dezort, RN, MSN, CPNP, both nurses at Children's Memorial Hospital, described some of the referrals they typically make to psychiatrists; speech, occupational, and physical therapists; or educational specialists in their multidisciplinary approach.

Their team is now prospectively evaluating a more extensive battery of screening tools with new-onset patients.

Many questions remain about the association between epilepsy and autism. "We don't know whether uncontrolled epilepsy may lead to autism," Masanori Takeoka, MD, from Harvard Medical School in Boston, Massachusetts, said at the news conference. "But both tend to feature intellectual disabilities."

Dr. Takeoka is senior investigator of another study presented at the meeting. His team found not only that autism is common in children with epilepsy but also that their seizures are surprisingly photosensitive.

Photosensitive seizures can be triggered by flickering lights; therefore, the self-stimulatory behavior of children with autism, such as flapping a hand in front of the face, has the potential to increase the risk for photosensitive seizures.

"Our study found a high overall incidence of photosensitivity in 25% of children over 15 years of age with autism spectrum disorder, and an even higher rate of 29% in that age group of children who had both epilepsy and autism," lead investigator Jill Miller-Horn, MD, also at Harvard Medical School, told reporters. "This finding has not been previously described."

Table. Incidence of Photoparoxysmal Response (n = 333)

Children Photoparoxysmal Response (%)
With autism 7
No epilepsy 1
With epilepsy 12
With autism and age older than 15 years 25
With both autism and epilepsy and age older than 15 years 29

Dr. Miller-Horn also pointed to the relatively small size of the study. "Larger-scale prospective studies are needed to confirm this trend," she said. "Further study is also needed to identify the importance of these findings in the pathophysiology of epilepsy in children with autism spectrum disorder."

In October, another team proposed that a deletion on chromosome 2 is linked to epilepsy and autism (Am J Hum Genet. 2011;89:551-563).

"We identified a single gene, methyl-CpG-binding domain 5," noted the team, led by Michael Talkowski, PhD, from the Center for Human Genetic Research at Massachusetts General Hospital, Boston.

Partial or complete deletion of the gene MBD5 on chromosome 2 was associated with intellectual disability, epilepsy, and autism.

The authors have disclosed no relevant financial relationships.

American Epilepsy Society (AES) 65th Annual Meeting: Platform A.02. Presented December 5, 2011.


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