EMBARGOED FOR RELEASE:
Monday, Dec. 9, 2019
8:00 AM EST
Abstract 12007
BALTIMORE – A severe form of epilepsy known as infantile spasms may increase the risk of children developing autism spectrum disorder (ASD) due to the condition’s unique seizures and resulting chaotic brainwaves, suggests research being presented
at the American Epilepsy Society Annual Meeting.
The research also hints that treatments for infantile spasms could be effective in treating ASD and should be studied as a potential therapy for autism in general.
Children who suffer from infantile spasms have a 30% to 40% risk of developing ASD, according to studies.1,2 Researchers have been exploring two theories that address the link: a genetic connection between the two conditions; and the chaotic brainwaves
caused by infantile spasms that may increase the risk of ASD. In the study presented at AES, researchers found a very low incidence of ASD in siblings of children with infantile spasms, suggesting the chaotic brainwaves may be a more likely cause.
“While about half of the children who had infantile spasms in our study also had ASD, very few of their siblings had any form of epilepsy or ASD,” said Shaun Hussain, MD, MS, senior author of the study and director of the UCLA Infantile Spasms
Program at UCLA Mattel Children’s Hospital, Los Angeles.
Based on their observations, researchers also suggest medication used to treat infantile spasms should be studied as a potential therapy for ASD. “We’re optimistic,” said Dr. Hussein. “We’ve seen several kids with longstanding
infantile spasms who seemed severely autistic, but after they were diagnosed and treated, their autistic symptoms – especially impaired social awareness and engagement – dissipated.”
Researchers studied 294 children who had video electroencephalogram (EEG)-confirmed infantile spasms and at least one sibling. Among the siblings, 1 (.3%) had infantile spasms, 5 (2%) had another form of epilepsy and 6 (2%) had ASD. While those rates
are slightly higher than the general population, they are still low, researchers noted. Researchers say the results suggest the seizures and abnormal brainwave patterns associated with infantile spasms may be critical factors in a child’s development
of ASD.
Infantile spasms often go unrecognized – and therefore untreated – because the seizures are subtle, often looking like a startle reflex, such as stiffening of the arms and legs, or the head dropping forward. Infantile spasms cause disorganized
chaotic brainwaves called hypsarrhythmia, a type of seizure unlike those in other forms of epilepsy. Both spasms and hypsarrhythmia pose a serious and imminent threat to the developing brain.
Treatment for infantile spasms should start as soon as possible using corticosteroids, adrenocorticotropic hormone or vigabatrin[EM3] . About 20% of children with infantile spasms that receive treatment are cured, although 10-15% die by age 2 and the remainder typically exhibit other forms of epilepsy, intellectual disability
and ASD[EM4] .
“This was an exploratory study, and it may be that children with infantile spasms may just have a special type of autism,” said Dr. Hussain. “On the other hand, we may have stumbled upon a means to treat or even prevent ASD in general.”
1. Saemundsen E, Ludvigsson P, Hilmarsdottir I, Rafnsson V. Autism spectrum disorders in children with seizures in the first year of life - a population-based study. Epilepsia. 2007 Sept;48(9): 1724-1730.
2. Saemundsen E, Ludvigsson P, Rafnsson V. Autism spectrum disorders in children with a history of infantile spasms: a population-based study.J Child Neurol. 2007 Sep;22(9):1102-7.