Children who suffer from infantile spasms (IS) may be at increased risk for developing autism spectrum disorder (ASD), but very few of their siblings are at risk for epilepsy or ASD, according to study results presented at the American Epilepsy Society 2019 Annual Meeting, held in Baltimore, Maryland from December 6 to 10.

Previous studies have reported that IS – a severe form of epilepsy characterized by epileptic spasms, hypsarrhythmia, and developmental impairment – is associated with an increased risk for other forms of epilepsy, as well as ASD. The increased risk for ASD may be secondary to a shared genetic susceptibility or secondary to a causative role of IS in the development of ASD.

The goal of the current study was to investigate the risk for IS, ASD and epilepsy among siblings of children with IS.

The retrospective cohort study included 294 children with video-EEG confirmed IS and at least one sibling. Only 1 patient with IS (0.3%) had a sibling with IS and 5 patients (1.7%) had a sibling with another form of epilepsy. A total of 6 patients (4.4%) had a sibling with a diagnosis of ASD.


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According to the researchers, while the risk for IS, other forms of epilepsy, and ASD was increased among siblings of patients with IS, compared to the general population, this risk is relatively low. The results of this study suggest that genetic predisposition plays a minor role in the development of ASD, while it is possible that ASD may be mediated by the IS itself.

“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.

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These findings suggest that medications used to treat infantile spasms should be studied as a potential therapy for ASD. Despite the exploratory nature of this study, Dr Hussain noted that findings suggest “children with infantile spasms may just have a special type of autism. On the other hand, we may have stumbled upon a means to treat or even prevent ASD in general.”

Reference

Sharma V, Hussain S. Risk of infantile spasms, other epilepsy, and autism among siblings of children with infantile spasms. Presented at The American Epilepsy Society 2019 Annual Meeting; December 6-10, 2019; Baltimore, MD. Abstract 3.234.