December 17, 2019

The Puzzling Link Between Autism and Infantile Spasms

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Children with infantile spasms were not likely to have a sibling who also had infantile spasms, other forms of epilepsy, or autism spectrum disorder (ASD), a retrospective cohort study showed.

Of 475 patients with video-confirmed infantile spasms in a large clinical database, 294 had at least one sibling; of those, one patient had a sibling with infantile spasms, five had a sibling with another form of epilepsy, and six had a sibling with ASD, reported Shaun Hussain, MD, of the UCLA Mattel Children’s Hospital in Los Angeles, and colleagues, at the American Epilepsy Society annual meeting.

Autism affects approximately 35% of children who have infantile spasms and the link between the two disorders is unclear. They may share genetic susceptibility or it’s possible that infantile spasms cause ASD, Hussain suggested.

“The big issue out there is that in most cases of autism, there is no obvious cause,” Hussain said. “Although we believe genetics play a big role — and countless genes have been linked to autism — we can’t identify a gene mutation in the vast majority of cases.” Most children with autism also have a normal MRI and a normal, or nearly normal, EEG, he noted.

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