Classification system based on co-occurring conditions may provide insight into autism

Summary: Gastrointestinal and immune disorders, along with sleep disruptions and seizures often co-occur at similar points of time in those diagnosed under the autism spectrum. Analyzing patterns in diagnosis of co-occurring medical conditions allowed for the identification of three subtypes of children with ASD. The findings could provide new insight into the mechanics of ASD.

Source: Rensselaer Polythechnic Institute

Children with autism spectrum disorder (ASD) are often affected by co-occurring conditions, such as epilepsy, immune disorders, gastrointestinal problems, and developmental delays. According to research published today in Autism Research, creating a classification system for ASD based on co-occurring conditions could provide useful insights into the underlying mechanics of ASD and these conditions.

The study was produced by a Rensselaer Polytechnic Institute team, led by Juergen Hahn, a professor of biomedical engineering, which analyzed de-identified administrative claims data from the OptumLabs Data Warehouse for thousands of children with and without ASD over five years. What the team found, Hahn said, were three subgroups within the cohort of 3,278 children with autism.

The first group, about a quarter of the children, had high rates of co-occurring condition diagnoses. The second cluster, also about a quarter of the children, had high rates of developmental delays, specifically. The third group, which encompassed the remaining 50%, had the lowest rates of co-occurring condition diagnoses – only slightly higher than the group of 279,693 children without ASD.

These findings, Hahn said, lay the groundwork for creating a sub-classification system within ASD.

“This could potentially be a blueprint for looking at the subtypes of autism. I’m not saying it’s the only way to do it but I think it’s an important step in that direction,” he said.

The analysis also showed that certain conditions like gastrointestinal and immune disorders, and seizure and sleep disorders often co-occurred at similar points in time in children with autism. Hahn said those findings could prompt further exploration by other research teams.

“Once you know which conditions happen together, then you can look at if there is some commonality among the underlying mechanisms. Maybe you find that if there’s an intersection of the mechanism that causes one problem or the other,” Hahn said.

This study built upon earlier research published in Journal of Autism and Developmental Disorders, where the Rensselaer researchers looked at gastrointestinal problems and antibiotic use in both children with autism and without.

The data showed that gastrointestinal symptoms are twice as common in children with autism, but that antibiotics don’t increase those symptoms in children with ASD any more than they do in children without.

“I think that’s important because it’s basically a question a lot of parents have when they go to the doctor,” Hahn said.

Answering these big medical questions is a hallmark of the Center for Biotechnology and Interdisciplinary Studies (CBIS) at Rensselaer, of which Hahn is a part.

“At Rensselaer, using an interdisciplinary approach at the intersection of the physical, computational, and life sciences and engineering, we seek to provide a new angle to human health for complex disorders and diseases such as ASD, Alzheimer’s, and Parkinson,” said Deepak Vashishth, director of CBIS.

The dedication to collaborative work at the center has enabled Hahn’s previous discoveries, including his finding that patterns with certain metabolites in the blood can accurately predict if a child has an ASD diagnosis.

In both of these most recent studies, the team was able to map over time when children were diagnosed with co-occurring conditions. Those timelines show that, at certain ages, diagnosis rates diverge between children with autism and children without.

These maps may help doctors better determine at what age they should start screening children with autism for various co-occurring conditions.

This shows medical files
Co-occurring conditions could provide useful insights into the underlying mechanics of autism spectrum disorder. The image is credited to Rensselaer Polytechnic Institute.

Larger than that, Hahn said, these findings raise more questions to be explored.

“That tells you that something must be causing this and so we have to figure out what’s going on in the body at this point in time that might either cause or contribute to these divergences somehow,” he said.

Hahn is joined on the publication by Deborah McGuinness, professor of computer science and a member of the Institute of Data Exploration and Applications at Rensselaer; Troy Vargason, a graduate student in biomedical engineering at Rensselaer; and Dr. Richard Frye, chief of the Division of Neurodevelopmental Disorders and director of the Autism Program at Phoenix Children’s Hospital.

About this neuroscience research article

Rensselaer Polythechnic Institute
Media Contacts:
Reeve Hamilton – Rensselaer Polythechnic Institute
Image Source:
The image is credited to Rensselaer Polytechnic Institute.

Original Research: Open access
“Clustering of co‐occurring conditions in autism spectrum disorder during early childhood: A retrospective analysis of medical claims data”. Troy Vargason, Richard E. Frye, Deborah L. McGuinness, Juergen Hahn.
Autism Research. doi:10.1002/aur.2128


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Individuals with autism spectrum disorder (ASD) are frequently affected by co‐occurring medical conditions (COCs), which vary in severity, age of onset, and pathophysiological characteristics. The presence of COCs contributes to significant heterogeneity in the clinical presentation of ASD between individuals and a better understanding of COCs may offer greater insight into the etiology of ASD in specific subgroups while also providing guidance for diagnostic and treatment protocols. This study retrospectively analyzed medical claims data from a private United States health plan between years 2000 and 2015 to investigate patterns of COC diagnoses in a cohort of 3,278 children with ASD throughout their first 5 years of enrollment compared to 279,693 children from the general population without ASD diagnoses (POP cohort). Three subgroups of children with ASD were identified by k‐means clustering using these COC patterns. The first cluster was characterized by generally high rates of COC diagnosis and comprised 23.7% (n = 776) of the cohort. Diagnoses of developmental delays were dominant in the second cluster containing 26.5% (n = 870) of the cohort. Children in the third cluster, making up 49.8% (n = 1,632) of the cohort, had the lowest rates of COC diagnosis, which were slightly higher than rates observed in the POP cohort. A secondary analysis using these data found that gastrointestinal and immune disorders showed similar longitudinal patterns of prevalence, as did seizure and sleep disorders. These findings may help to better inform the development of diagnostic workup and treatment protocols for COCs in children with ASD.

Lay Summary
Medical conditions that co‐occur with autism spectrum disorder (ASD) vary significantly from person to person. This study analyzed patterns in diagnosis of co‐occurring conditions from medical claims data and observed three subtypes of children with ASD. These results may aid with screening for co‐occurring conditions in children with ASD and with understanding ASD subtypes.

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