- Brachycephaly (flat, wide head; TH had this from back sleeping, but his fontanelles didn't close until very late, rather than too early)
- Mouth asymmetry
- Ear lobe crease
- Asymmetry of the eyes
- A large mouth
- Limited facial expression (only in new social situations)
- An abnormal whorl (TH has a piebald hair color distribution; he has a neurotypical cousin with double whorls)
- A prominent lower jaw
Further, certain features occurred in the ASD group with relatively high frequency, including:
- Sandal gap toes
- An abnormal frontal hair whorl
- Attached earlobes
- A high, narrow palate
- Hypermobile joints
According to one report on the study, these features were more common among boys with ASD compared to girls, and the authors draw a potential link to copy number variations, or CNVs, a focus that has moved to the fore in responsible autism research. In brief, carrying different numbers of copies of the same DNA sequence might produce different outcomes or combinations of outcomes.
I've boldfaced the features that TH shares with these children. How do you or your child stack up?
9 comments:
Some of it our developmental ped was all over years ago, including the sandal foot toe and the webbing/attached toes? Mooser has the frontal whorl, Bub has the double crown and frontal whorl. Both boys are tow heads with a birthmark that grows dark brown hair (Bub's [brown bm] near his crown, Moose's [strawberry bm] at the nape of his neck).
Me and the boys have attached earlobes, I have portwine stain birthmarks (as does my dad on my forehead and nape, not sure what color my hair was back there when I was blonde). I have no sandal gap, but both boys do. We do have slight connection of our peace sign toes (sorry I don't know the correct name!), Bub's head (like mine) is flat and wide, Mooses is like a bicycle helmet (like dad), We all have face assymetry including eyes, nose, mouth. I think it's because we all sleep on one preferred side at night! The rest, I don't know. I could probably find just as many exceptions as I could similarities.
Eldest has always looked "normal"... always.
The pictures of his brother though... who didn't have hair until after age 3... made you go.. mmmmmm... He has a HUGE, HUGE head in the pics. He's finally grown into it, for years everything had to have buttons in the front to get shirts over his head.
Mouth asymmetry... does that count an upper lip that was higher and didn't close quite right for a long time.
His ear lobe crease comes from falling against a glass table when he was 2 at my parents... broke the cartilidge.
The whorl in the back of his head is genetic... like Father like son's.
Hypermoble joints in our fingers on our left hand come from twisting our fingers daily....
My boys look as normal as every other child... actually... my autistic one... is pretty damn cute. As we've been told more than once, he's not the first one you notice in the classroom... unless he's bouncing and flapping...
Other than the attached ear lobes (which I also have) my 12 year old autistic son has none of these. Although, I'm not sure about the palate thing.
Honest opinion: this type of study has about as much legitimacy as phrenology. The best I think you can do is state that people of certain ethnic background may have a genetic predisposition toward autism and that there may be a correlation between these characteristics and ethnicity. My kid doesn't have any of these traits, save attached earlobes...but that is the case for everyone in our family.
I'll cop to 'limited facial expression' in new social situations, and my elbows are a bit double-jointed. That's it.
I'd have to agree with what cherishthescientist said above. Certain traits run in certain families. Various members of my family have/had a variety of those traits listed. Some of us are/were pretty spectrumy; others rather neurotypical. Most of the people I know have at least one of the traits (facial asymmetry being pretty much universal - photoshop a picture of your left half face mirrored and one of your right half face mirrored) and most of them seem pretty neurotypical to me. The person I know best who has an actual autism diagnosis looks "normal".
Only the head size is my son. Don't know about the palate though.
There was a study a few years back that that defined two types of autism.
One, labeled complex autism and occurring in about 30% of autism cases, presents with smaller head size, greater chance of low IQ, lower rate of siblings with the disorder and seems to have close to a 1:1 ratio of occurrence between boys and girls.
The other, essential autism, presents with larger head size, few structural brain abnormalities and has a ratio of 7:1 boys to girls.
Sounds like this may have been looking at the "essential autism" group. My son is in that group, but does not have these other features.
Highlights that AUTISM is not one thing, but just behaviors that are outcomes of several different physical syndromes.
Hm.
Well, I look like an anime character (read as: large eyes, not so large mouth) and have a tiny head and have facial expressions that are different, not less.
And unattached earlobes, just like both parents. And a high narrow palate and Ehlers Danlos Syndrome, also JUST LIKE A PARENT! (autism does not erase mendelian inheritance. The more you know...). And vaguely asymmetrical eyes, which we always thought was normal and just more prominent bc I'm biracial...more eye genes to shuffle, yknow?
I don't find this study particularly enlightening. Go to an ASAN meeting and no one there looks remotely alike.
Ehlers Danlos...I've wondered if TH has some kind of connective tissue thing like that. His connective tissue is so stretchy. I used to teach E-D as an example of multiple paths of inheritance to the same phenotype. But I don't think his skin is "stretchy."
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