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Clinical research: Facial features can help diagnose autism

by  /  1 August 2012

Physical flags: Children with autism are more likely to have unusual facial features, such as prominent foreheads, than are controls.

The presence of any of three abnormal physical features — an asymmetrical face, tufts of hair growing in the wrong direction or a prominent forehead — can help diagnose autism, according to a study published 6 June in the Journal of Autism and Developmental Disorders1.

A more precise picture of the pattern of dysmorphic features in autism could provide the basis for a screening tool for the disorder.

In a 2011 study, researchers compared the physical features of 224 children with autism with 224 controls matched in pairs by age and gender. They found 48 features, such as deeply set eyes, expressionless faces and thin upper lips, that are more common in children with autism than in controls.

They then classified different features according to severity. ‘Common variants,’ such as prominent ears, are present in more than four percent of the general population, whereas ‘minor’ abnormalities are rarer. The researchers also identified two ‘major’ abnormalities — an ‘open-mouthed appearance’ and ‘expressionless faces’ — that are severe dysmorphologies caused by abnormal development2.

In the new study, the same team reanalyzed these data to determine whether a subset of these features can help predict whether a child has autism. On average, children with autism have 1.3 major abnormalities, 10.6 minor ones and 8.3 common variations, whereas controls have 0.3, 5.7 and 3.2 respectively.

Using six or more common variants as a cutoff for an autism diagnosis accurately diagnosed 88 percent of the children with autism and misclassified only 22 percent of controls.

The researchers also used a statistical analysis to create a decision tree, based on the features that are the most prevalent in autism. First, they classified children with an asymmetrical face as part of the autism group. When they compared this designation with the children’s true diagnoses, they found that only three percent of the controls meet this criterion.

The researchers also placed children with abnormal hair whorls — multiple tufts of hair growing in the opposite direction from the rest — as well as children with a prominent forehead in the autism group. These three factors accurately identified 96 percent of the autism sample and misclassified 17 percent of controls.


1: Ozgen H. et al. J. Autism Dev. Disord. Epub ahead of print (2012) PubMed

2: Ozgen H. et al. J. Autism Dev. Disord. 41, 23-31 (2011) PubMed

  • Seebs

    Just a note: While many people who are not themselves autistic like to push the “people with autism” language, the autistic people I know are universally offended by it, and prefer “autistic people”. Contrast “people with blackness” or “people with femaleness”.

    • We are aware of this debate, but opinion out there seems to be divided. We chose to go the “people with autism” route because it is similar to the preferred terminology for many other disorders as well. If it ever becomes obvious that “autistic people” is less offensive to the majority, we would be happy to change our style.

      Thanks for reading

      –Apoorva Mandavilli

  • Brian

    Phrenology anyone?

  • Krista

    You know I have to say that I find this vaguely creepy. “Abnormal hair whorls,” is this something good $ should be spent studying??? Just because this may be interesting to some lab workers does not make it useful or important. 90% of ASD kids do not have chromosomal abnormalities. It really is not that difficult to diagnose autism- spend a few days at my son’s school and you will learn more than reading 100 books about dysmorphia – which is actually very rare.

    Simons has so much $ and so many incredible resources in terms of brain power and technology, I have to ask why can’t this $ be better spent on issues of pressing needs to ASD children and their families?

    • Jessica Wright

      Hi Krista,
      To clarify, this research is not funded by the Simons Foundation. is an editorially independent news website that reports on all interesting autism research, not just work done by SFARI investigators.

  • Amber

    Krista- In order to learn about how to help those who have a disease, disability, or autism, anything, weve got to learn more about it. as much as possible. This is not a waste of money. If they can make a list of definite physical features of autism than children could possibly be recognized as having it much earlier in life and therefore began recieving services that much sooner.

  • Meade

    Wide set eyes are not necessarily assymetrical in feature. Because they can be evenly spaced. Wide set eyes are often a marker of beauty, not the opposite.

  • Debra-Woman with Asperger Syndrome

    More money needs to be spent.I have a cousin who has a daughter with severe autism and her forehead is not broad and her eyes are set close together not far apart. When she was a toddler her head was abnormally small and her neck appeared longer then average. I have other dysmorphic features and I’m on the other end of the spectrum. My eyes set close together and my face, chin , forehead and ears are small. As a child I was small for my age and very thin. As an adult I’m obese due to my obsession for non healthy foods. You must broaden the number of controls in this study, as well as your demographics. I think once this is done you will find this research in conclusive.

  • Nicole

    I see this and think of the dysmorphologies associated with Fragile X and Foetal Alcohol syndrome. I often wonder whether proper differential diagnosis of ASD has been performed.

  • Isabell

    My 10 year old son has been referred for testing for autism , I’ve always known something wasn’t quite right but never knew what , he has RAS & his neurologist commented on his bilateral hair whorls on his frontal head & asked if he looked like my other children (which he doesn’t) but he never said much more & I just thought it strange. Now it makes sense.

  • Candace

    A sample of n = 448 is actually quite large, and a 97% predictive accuracy is rather impressive. Forty-eight specific features were identified as being possible indicators of ASD, I’m assuming that each of these was examined individually, and I’m curious about
    1. The level of significance for each; 2. If there is an increase or decrease in predictability when the features are considered in combination; and, if any gender differences were identified.
    As for criticizing the allocation of funding, the purpose of research is not only the immediate study, but also diversifying the approach in which we view things. Though it may seem unimportant, both significant and insignificant data can provide us with valuable information. If learning that certain dysmorphologies can aid in the diagnostic process, then research on the subject is beneficial and should be continued.

  • Candace

    I’m going to go ahead and read the published article. I’m not sure about the controls used for differential diagnosis concerning fragile x. It does say that the study was done with children, and FAS is identifiable and able to be diagnosed much earlier than ASD. I would think that a previous diagnosis of FAS would part of the exclusion criteria.

  • fred

    my girlfriends son is autistic and looking at his baby pictures you could tell there was something wrong. He had a large forehead, ears were prominent and his upper lip is thin. His eyes are wide apart. He is now older and there are the common features such as whirls in his hair and at times he keeps his mouth open. Unfortunately his diet is lacking and he likes to eat only chicken nuggets or fries from mcdonalds and snacks. Other characteristics are repeating things and lack of focus. I have tried to tell her that there were signs present before he was diagnosed but she doesn’t accept that. He has progressed and that is good. Hopefully as he becomes an adult things will come more full circle for him so he can be more social and function in society.

    • Megan

      Fred, I am autistic and I find you and this entire thing to be incredibly far reaching and rude. I am autistic and I can tell you right now hounding your girlfriend and trying to point these stupid things about her son is incredibly inappropriate. I would leave you for treating my kid like a nazi science experiment.

  • swfloridacoast

    I have whorls and an uneven hairline. Can see them in family photos and oil paintings of hundreds of years ago. They are more commonly known as cowlicks and thought of as cute. Autistic? Not by a long shot. Good grief!


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