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Catalog of symptoms aims to unravel autism diversity

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Jessica Wright
8 January 2014

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.

The researchers presented preliminary findings from this work at the 2010 Autism Consortium Symposium in Boston.

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.

Autism traits: A new standardized list defines 283 symptoms, encompassing personal traits, social skills and medical history, seen in people with autism.

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.

News and Opinion articles on SFARI.org are editorially independent of the Simons Foundation.


1: McCray A.T. et al. Neuroinformatics Epub ahead of print (2013) PubMed


Name: ASD Dad
8 January 2014 - 10:19PM

This appears to be a promising move to encompass 'medical conditions' into the identification and assessment of ASD patients.

The hierarchy though must be rigorous medical/physiological examination as it is becoming clearer that in at least two major ASD subgroups biological dysfunction drives autism - epilepsy/seizures and gastrointestinal diseases

Both may present the best opportunity to quickly and effectively intervene to provide greater quality of life for ASD individuals and in the case of epilepsy / seizures limit intellectual and cognitive damage to young brains and neurology.


Name: Payman
14 January 2014 - 6:58PM

So all past studies into autism could be questionned into their validity since most if not all were not specific to subcategory of groups within autism label. So is the genetic research? where does Sfari go from here...or Are they going to blindly follow the same old path.

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