Autism: Faces and lungs

27 Oct

Two stories out in the past couple of days point to physical differences in autistics: faces and lungs. One study found that facial features were quantitatively different in autistic children than in non-autistic children. In MU study links facial features to autism, Janese Silvey wrote:

A new University of Missouri study shows that children with autism have slight differences in facial characteristics — a finding that indicates the disorder develops in the womb.

Kristina Aldridge, assistant professor of pathology and anatomical sciences in MU’s School of Medicine, worked with other researchers at the Thompson Center for Autism and Neurodevelopmental Disorders to analyze 64 boys with autism and 41 typically developing boys ages 8 to 12.

They used a camera to capture 3-D images of each child’s head and then mapped 17 points on the faces. When Aldridge compared the two groups, she found statistically significant differences in facial features.

It is perhaps not surprising that facial differences could be detected. Head circumferences are known to be often larger in autistics, and follow a different trajectory after birth. However, the authors point to prenatal development as possibly at play:

“We can look at a point in time when facial features are being developed and genes that are shared at that time between the face and brain,” Aldridge said. “This narrows the window of time and the candidate genes we might look at.”

A story from WebMD points to Autism linked to unusual shapes in lungs. The study was presented at a conference of the Annual Meeting of the American College of Chest Physicians as Can Bronchoscopic Airway Anatomy Be an Indicator of Autism?

Here is the abstract:

Can Bronchoscopic Airway Anatomy Be an Indicator of Autism?
Barbara Stewart, MD*

Nemours Childrens Clinic, Pensacola, FL

PURPOSE: The purpose of this study is to investigate possible correlation between certain airway anamolies and a definitive diagnosis of autism and/or autistic spectrum disorder.

METHODS: IRB approval was obtained for a restrospective study to evaluate 49 patients with a diagnosis of autism or autistic spectrum disorder. These patients were seen in the pulmonary clinic with a diagnosis of cough that was unresponsive to therapy and who required further pulmonary work-up.Bronchoscopic evaluation of the airway was included as part of that work-up.

RESULTS: Bronchoscopic evaluations revealed the presence of initial normal anatomy followed by double take-offs in the lower airway (or “doublets”)in 100% of the autistic population studied.

CONCLUSIONS: There appears to be a correlation between autistic spectrum disorder and airway anatomy. This is a small study of 49 patients. More investigation is warranted.

CLINICAL IMPLICATIONS: At present autism is diagnosed through subjective observation of “autistic behaviors.” Autistic children with cough may be diagnosed objectively.

DISCLOSURE: The following authors have nothing to disclose: Barbara Stewart, Barbara Stewart

Not surprisingly, it is a pretty small study. (49 patients). This isn’t a study which says, “all autistic kids have these lung differences”. Rather it is, “of the autistic kids we saw in our clinic for persistent coughs had this anomaly”. Even still, it is an interesting finding if real. On thing this points to, that the author notes in the interview is that for this subset of kids, development went on a different path very early:

“I think the whole thing occurs embryologically — when the cell and egg come together and the fetus is formed,” she says. “It’s important for parents to know that.”

As also discussed on CRACKING THE ENIGMA as The many faces of autism

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29 Responses to “Autism: Faces and lungs”

  1. Jon Brock October 27, 2011 at 01:55 #

    Can I put in a shameless plug for my blogpost on the faces paper?

    http://crackingtheenigma.blogspot.com/2011/10/many-faces-of-autism.html

    That lungs paper is intriguing too. No idea what to make of it!

    • Sullivan October 27, 2011 at 02:00 #

      Jon Brock,

      thanks for the link. I’ve added it to the body of the article above. Your’s is much more thorough than the brief mention above, and well worth the time for people to read.

  2. brian October 27, 2011 at 04:33 #

    Not surprisingly, it is a pretty small study. (49 patients).

    Yes, but (1) the author indicated that she had also used a comparison group of over 300 children without ASD (although that wasn’t included in the abstract) and did not find even one child in that group with this distinctive pattern, and (2) the author indicated that, to her knowledge, this pattern has never been described in the literature.

    It’s also worth noting that this trait should be set by about twenty weeks before birth. In that way, it’s rather like the minor physical (facial) anomalies discussed here, as well as the brain overgrowth that apparently traces to before the 18th week of gestation discussed by Eric Courchesne at the recent IMFAR as indicative of unusual development long before birth in some children (49 of 49 in this pulmonary study) with ASD.

    • Sullivan October 27, 2011 at 05:30 #

      brian,

      I have to admit some restraint in this because of the obvious parallels that can be made…this is a case series. A true case series, not some lawyer/lawsuit driven pseudo case series. 49 autistic patients go to a single clinic (unrelated to autism) and all are found to have the same medical condition.

      “Not surprisingly” in my mind is because it is a single clinic. With 1% prevalence of diagnosed autism, one would expect that the clinic would not see that many autistic kids. 49 kids from a single clinic is pretty high to me. But I don’t know how big this place is.

  3. brian October 27, 2011 at 07:52 #

    Sullivan, the Nemours Children’s Clinic in Pensacola is part of a large medical group that includes a couple of children’s hospitals plus about two dozen pediatric clinics that are associated with other hospitals in four states. I’d guess that this was a retrospective review of patients from several of those sites.

    Fortunately, at each branch point there is either only one branching airway (as in the 300 children without ASD) or more than one (two smaller, symmetrical branches in these children with ASD), so that’s not a judgement call.

  4. daedalus2u October 27, 2011 at 14:38 #

    I think it relates to nitric oxide. NO is used as a signaling molecule to determine patterning during development across the whole lifespan.

    NO is known to be important in multiple ways during neural tube closure and axon targeting.

    NO is known to be important in angiogenesis and also in fetal lung morphology.

    http://www.ncbi.nlm.nih.gov/pubmed/11839530

    It has to be some sort of “balance” between “too much” and “not enough”. In the formation of the vasculature, hemoglobin is the sink for NO, and the lowest NO level is at the inside of the endothelium where red blood cells with hemoglobin are in direct contact with it.

    It is probably a balance between NO generation in the amniotic fluid in the lung (maybe from nitrite reduction) and NO destruction by hemoglobin in the developing pulmonary vasculature.

    This explant culturing might not be exactly relevant because the growth media isn’t the same as amniotic fluid, so it doesn’t have the same NO production properties. It does show that NO is important.

    The timing of the formation of these branches in the human is around the same time as the number of minicolumns is set (8 weeks gestation), the same time that thalidomide causes autism (3 weeks gestation).

  5. Calli Arcale October 27, 2011 at 21:15 #

    Case study it may be, but it’s very intriguing. One wonders whether this has an impact on respiratory health, and whether or not this is why some have perceived an increased rate of respiratory problems (allergies, asthma) in autistics. But that wonder should wait; I’d like to see it looked for on a larger scale.

  6. Anne October 27, 2011 at 22:07 #

    If the lung study pans out in larger groups, it might help to alert parents of autistic children to look for signs of asthma.

    For instance, don’t treat coughing as a “behavior” to suppress… I know an autistic who was kicked out of kindergarten because they were “coughing to get attention.” No, she had bronchitis from living with smokers.

  7. McD October 28, 2011 at 02:51 #

    Very interesting studies. There is an interesting commentary on the Aldridge et al. study here:

    http://crackingtheenigma.blogspot.com/2011/10/many-faces-of-autism.html

    Jon Brock looks at the subgroups and the difference between apparent subtypes of autism.

  8. Chris October 28, 2011 at 03:42 #

    (Um, McD, see the first comment in this thread)

  9. McD October 28, 2011 at 22:14 #

    Oops, I saw the shameless plug but didn’t twig as I skimmed through. I got sent the link to Jon Brock’s blog through a different email list I subscribe to, and I thought it was an excellent take on the study.

  10. Alto October 29, 2011 at 02:46 #

    I’m confused. Where do the “lower airways” begin in the lungs? Why not just show us a picture? The way this is written it’s very hard for a lay person to get an exact idea of what they are saying.

  11. Alto October 29, 2011 at 02:51 #

    I’m upset, because having an ASD I WANT to know exactly where this is and how it relates to the rest of my lungs so I can figure out any pertinent information.

    This article is so meager.

  12. brian October 29, 2011 at 11:29 #

    Alto, the lower airways begin where the trachea branches to supply air to your left and right lungs (these are the left and right “main” bronchi); these then branch again to supply the upper and lower lobes of each lung and a third, middle lobe of the right lung (these are the “secondary” bronchi). Apparently the children with ASD that Dr. Stewart examined had typical anatomy to this level.

    After this, there are additional branches (the tertiary bronchi) within the lung lobes. If I understand this preliminary report, the individuals with ASD that were examined have smaller, doubled branches (“doublets”) at this level where typically there are single branches.

    The “multimedia library” link on this page includes two diagrams that illustrate the anatomy, plus a video of a bronchoscopic exam (“image 3 of 3”).

    http://emedicine.medscape.com/article/1898852-overview#aw2aab6b3.

    At this point it’s not at all clear if this anatomical feature is present in anyone who does not have a medical condition that merits bronchoscopy. Accordingly, it seems that Dr. Stewart’s finding is of interest more for its relationship to the embryological origin of the anatomical feature seen in these children than for any possible clinical significance.

  13. daedalus2u October 29, 2011 at 18:08 #

    In one of the papers I looked at, they mentioned that higher frequency branches were often dead-end branches and were not that rare, and that dead end branches were more susceptible to infection, so individuals with cough would be expected to have a higher number of these abnormalities.

  14. brian October 29, 2011 at 21:59 #

    daedulus2u, I dont’ recall that Dr. Stewart mentioned in her abstract, her published comments, or in a brief video interview that’s available on line that one of each symmetrical doublet led to a blind end. However, I also don’t recall that she mentioned the frequency of the branch points, but it seems that if the internodal distance was similar in the children with ASD and the controls and if only one of each of the two unusually narrow diameter take-offs was functional in the children with ASD, it might suggest some important functional differences in addition to predisposition to infection.

    I’ll be interested to (eventually) learn if the alteration in NO levels that you mentioned and the alteration in NO synthase levels that have been noted in some individuals with neurodevelopmenatal changes (i.e., schizophrenia, but, I suppose, possibly also in ASD) will turn out to be associated with environmental effects (e.g., prenatal infection a la Fatemi) or genetics, or both.

  15. daedalus2u October 29, 2011 at 22:32 #

    It wasn’t from something the person who found the result in children with autism wrote, it was in this paper.

    http://www.ncbi.nlm.nih.gov/pubmed/11158647

    In the section titled Accessory Cardiac Bronchus starting on page 108.

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  26. Katherine Mack October 10, 2016 at 17:27 #

    My grandson now aged 5 born 02/09/2011 is being assessed for autism .
    When he was approx 7 months he had allergies to dairy and about 9 months he had an anaphylaxis to egg when trying scrambled egg for the first time. He had to have an epi-pen .
    He developed multiple chest infections and was being investigated for Primary Dyscanesia Syndrome meaning born with no caelia which proved to be negative.
    Through x-ray his lungs showed they were scarred and my daughter was told he may have to have a lung transplant in adolescent .
    He was living in the west midlands and moved to Glasgow. Surprisingly his chest infections aren’t as regular now and he manages quite well as a normal child. Nothing has been investigated about his lungs since moving to glasgow but his behaviours are more on the Autistic spectrum now.
    He has aggressive behaviours grunts a lot when angry and a very good vocabulary.
    I found your article interesting and thought I would share my information with you. I feel that the respiratory problems and allergies he has may have been an early diagnosis in his autism.
    At times it is difficult for other adults to understand his behaviour as he has no other limb disorders or speech he is very intelligent but hypersensitivity to sounds and likes certain clothes.
    We avoid taking him to areas where there are crowds .
    The MDT are meeting this week 13 Oct 2016 to confirm his autism although my daughter has been told he is on the spectrum by SALT.
    I hope you find this interesting.

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