Tag: Autism studies

Detecting Autism

from physical clues in the Retina.

Is there a likely physical marker for autism being researched right now?

Recent studies are being summarized and new large number studies are being done to see if the results from “small number” trial studies can be duplicated and information refined.

A year or two ago an optometrist wondered if examination of the retina might be a way to distinguish autistic individuals and to be non intrusive ( no biopsies, blood samples, hair, DNA etc taken) and used as a diagnostic tool to discover autism as early as in newborn babies.


Studies have been done (and more are coming) and the results seem to show a few interesting points. (so far!)

Subsequent studies seem to prove that when children diagnosed as autistic are examined, the vast majority of them have thicker retinas and thicker coverings where the optic nerve joins at the retina than “average” or “normal” individuals.

More studies are being done to see if there are other criteria that can be gleaned.

Studies done on “autistic like” mice which have been engineered to carry several genes associated with autism also seem to show this characteristic (thicker tissue at retina and the base of the optic nerve).


Many scientific reports in journals and the news, etc. are reporting this as “fact.”

It is exciting to think science may have found an autism “tell” but here is why I would urge readers to be cautious in jumping on the “hooray we can detect autism now” band wagon.

There are many genetic conditions which frequently include autism in their symptoms. Fragile X, Ehler Danlos, Williams Syndrome, and many other known genetic syndromes/conditions have specific genetics associated with them as well.

What science may be in the process of discovering is another as yet unknown genetic condition associated with autism. As with the associated conditions referred to above, not all autistic individuals may have the genes that are present in the condition that causes thickened retinal and optic nerve tissues.

(see the genes included and known to exist in the engineered “autistic” mice and compare to the genes in the DNA of individuals included in the studies who show thickened tissue, for example.)

This does not mean that ALL autistic individuals might be diagnosed by using the retina test, only those with the specific genes which might also include signs of autism as part of the characteristics of that specific genetic condition.

Much more research is needed to make sure that somebody does not decide that if the retinas of individuals do not reflect this particular feature of development, that individual must NOT BE autistic.


Arbitrary statements in diagnosing autism abounded and were mistakenly perpetuated for years, and still are in some places today.

Today’s understanding of autism is that it is usually genetic, and that autism is caused by uneven development of one’s neurology even before we are born.

So far there are over 100 specific genes associated strongly with autism.

I hope there is much more critical research done before somebody arbitrarily decides that this potential new physical “marker” applies to ALL autistic individuals.

Watching for more reports and studies results as science moves on.
Hoping for scientific methods to be formed to ask and answer this question.
“Does this new test apply to every single individual who might have autism”???
Developments will be reported here.

Still learning, looking, trying to understand my own autism as I age. Trying to report what I am learning so you can find it here, “all in one place” rather than have to search all over the internet for clues.
It is all pretty interesting, isn’t it?

Animals, Autism, Self Injury

Can we learn anything from studies?

One of the truly distressing behaviors encountered in some autistic people is the problem of Self Injuring behavior.
This can range from skin picking, hair/eyebrow/eyelash pulling, chewing fingernails and fingertips, to biting oneself, using sharp objects to self injure, head banging , throwing oneself against sharp things such as corners of a wall or a table edge. It can include self cutting, burning, piercing, and multitudes of other behaviors which can cause permanent bodily damage.

You may be surprised to learn that self injuring behaviors are not confined to autism and certain mental disorders in humans. Animals can and do practice very similar forms of self injury.

Early studies on primates and zoo animals, as well as domesticated animals seemed to show that the worst self injuring behaviors were to be found in confined animals. (Labs, zoos, farms, kennels, and in animals kept as pets where close confinement and lack of social interaction with peers was a common condition).
Some studies at first blamed the behaviors on conscious use of self injury to gain attention. One earlier study said such behavior should be completely ignored and not rewarded by offering interactions, distractions, or other attention or show of concern.


Many studies since have put blame on unnatural environment, poor socialization or lack of ability to socialize naturally, lack of enrichment of environment, and some more recent studies are finding that brain chemicals are skewed in many cases, the subjects being studies being found lacking in dopamine or cortisol.

Many self injuries seem to be linked to frustrated sexuality and frustration of natural social/sexual behavior patterns in captivity as opposed to what would exist in the natural environment, and were assumed to be replacement for thwarted natural sexual behaviors.

Exposure to stress seemed to be involved and often made the self injury patterns worse or more frequent.

Forward now to studies being done in the past and currently involving human self injury.

Among diagnosed children with ASD studies using reports from their doctors said 28 percent of the autistic children in their care had some form of self harming behaviors.

Studies involving adults who were capable of self reporting showed that about 50 percent were actively or presently dealing with self injuring behaviors.

Studies of lower functioning individuals in care facilities show up to 60 percent struggle with self injurious behaviors.

Studies with both animals and humans have shown those who self injure often have lower levels of dopamine, norepinephirine, or cortisol.
Some studies show that certain chemicals used for sedation or anesthesia, or other purposes can induce self injuring behaviors.
Animals coming out of surgery seem to have more propensity to self injury immediately after. Studies pointed to the chemicals used to anesthetize the animal, as self injury was more common when certain anesthetics were used, than with others. I have not found comparative studies involving anesthesia with humans but I am wondering if the many calming drugs given to people who have anxiety or other behavioral problems might not be involved in some way for humans as well?

One very interesting human study tied certain self injury patterns with different known genetic disorders or syndromes. Named in the study as having recognizable tendencies to certain specific patterns of self injury are Lesch-Nyhan, Cornelia DeLange, Smith Magenis, and Prader- Willi syndromes. There may be others!


Self injuring groups studied showed overall lower verbal abilities, fewer self help skills, low mood, poor social interaction, higher levels of impulsivity, and higher levels of stereotyped, compulsive, or repetitive behaviors.

Another study showed the worst self injury behaviors were observed among those who had more severe sensory impairments, and among those who had physical illnesses associated with higher levels of pain.

I am not able to draw conclusions from these studies, but it seems evident to me that they provide some very strong clues which need further investigation.
Chemical, genetic, and environmental conditions all seem to play a part here. What will we learn from further studies?
Are there clues here to actions we can take to help those with Self Injuring Behaviors today?