Catalog of symptoms aims to unravel autism diversity
Researchers have standardized labels for nearly 300 traits of autism, drawn from 24 diagnostic tests for the disorder, they reported 27 October in Neuroinformatics1. They can use these terms to search for certain traits among large catalogs of the genetics and symptoms of people with autism.
Despite the ongoing search for biomarkers of the disorder, autism diagnoses depend entirely on behavioral assessments. There are several available diagnostic tests for autism, ranging from in-person assessments, such as the Autism Diagnostic Observation Schedule (ADOS), to parent or teacher reports. The choice of test often requires doctors to balance thoroughness with time and cost.
Some questionnaires, such as the Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III), which focuses on cognitive ability, gauge specific features of autism.
The new study aims to build a defined list, or ontology, of the traits these tests assess. The goal is to allow researchers to compare results across different diagnostic tests and identify the same features, regardless of the test used.
The researchers compiled 283 terms from a total of 5,000 questions across 24 diagnostic tests. The terms fall into three main categories: personal traits, social competence and medical history. The category of personal traits, for example, includes cognitive ability and motor and language skills.
The researchers used these terms to categorize symptoms in 525 families who are members of the Autism Consortium Database. This will allow others to search the database for individuals with particular features, such as those who have trouble regulating their emotions, the researchers say.
They also cataloged how many of the 283 terms each diagnostic instrument covers, along with the time needed to complete each test. For example, 19 percent of ADOS questions query language ability and 34 percent assess interpersonal interactions, but none assess motor skills.
The researchers then determined that combining three tests — the Autism Consortium Medical History, Vineland Adaptive Behavior Scales-II and WPPSI-III — covers the most terms in the least amount of time.
The researchers say the new tool can also help classify individuals with autism into subgroups, which may reflect different causes of the disorder.
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1: McCray A.T. et al. Neuroinformatics Epub ahead of print (2013) PubMed