ADNP refers to a gene on the chromosome 20 pair. Mutations in the gene cause Helmsmoortel-van der Aa Syndrome, which is, so far, one of the more common types of autism. In many cases, due largely to the pervasive functionality of the ADNP protein, it is also often one of the more severe expressions. This is evidence that early eruption of baby teeth (more or less a complete mouth full of teeth before 12 months) is a marker for Helmsmoortel-van der Aa Syndrome – and for nothing else.
Our SAITO software currently has information about 1464 genes in 701 syndromes and 44 categories. What used to be called Asperger’s had two different syndromes (Asperger X-linked 1 and 2) and two different genes (NLGN3 and NLGN4X, respectively) – the category is awaiting a new name. In a similar manner but for much less sinister reasons, for the category Pervasive Developmental Delay the gene (GPX1) and its syndrome will likely be reclassified within the autism spectrum. The future classification of the 15 syndromes and 20 genes currently grouped in the Panic Phobia Anxiety category is under discussion – they may well be shifted to the autism spectrum. None of which is likely to matter much to people with these conditions.
Currently, after the arrive of two batches of candidates genes SAITO has information about 268 autism genes in 130 syndromes. There are currently seven genes awaiting further information. I was aware that several large scale studies from Asia, Africa and South America were still being completed, but it seemed that, to recycle a very ill-fated phrase, “the end of the tunnel was in sight”.
Two researchers disabused me of that naive notion by sending a quote from the US National Institutes of Health (NIH):
“Changes in over 1,000 genes have been reported to be associated with ASD, but a large number of these associations have not been confirmed.”
Grinding, gnashing or clenching or clacking your teeth. I asked what I thought was a simple question directed to the international genetics grapevine: are there any indications that bruxism is inheritable.
Today, if you have diagnosed with bruxism, you may consciously or unconsciously clench your teeth when you’re awake (awake bruxism) or clench or grind them during sleep (sleep bruxism). For some medical practitioners, sleep bruxism is considered a sleep-related movement disorder. People who clench or grind their teeth (brux) during sleep are more likely to have other sleep disorders, such as snoring and pauses in breathing (sleep apnea). Mild bruxism may not require treatment. However, in some people, bruxism can be frequent and severe enough to lead to jaw disorders, headaches, damaged teeth and other problems. This is especially true in the Rett syndrome spectrum.
Signs and symptoms of bruxism may include:
Teeth grinding or clenching, which may be loud enough to wake up nearby sleepers
Teeth that are flattened, fractured, chipped or loose
Worn tooth enamel, exposing deeper layers of your tooth
Increased tooth pain or sensitivity
Tired or tight jaw muscles, or a locked jaw that won’t open or close completely
Jaw, neck or face pain or soreness
Pain that feels like an earache, though it’s actually not a problem with your ear
Dull headache starting in the temples
Damage from chewing on the inside of your cheek
One disturbing hypothesis is that there is not really a clear distinction between sleep and awake bruxism so that patients suffer pain at varying levels throughout a 24 hour interval. What is disturbing about that is it is an admission by people who have trained professionally for years to recognize pain and do something about it that patients, especially those with expressive language disabilities, may have been suffering because those tasked with identifying and relieving that suffering failed to do so.
That meant my questions really should have been (1) whether or not there are mutations that suggest a tendency to bruxism, how can the grinding of teeth being reliably measured? and (2) what should be done to either reduce the frequency or intensity? (3) if bruxism could be measured how prevalent might it be expected to be across the arthrogryposis, ataxia, autism, cerebral palsy and Down syndrome spectra?
We were somewhat surprised to observe that not only did most students appear to enjoy having their tea poured Moroccan style (see above), but that they also wanted to learn to pour that way themselves. The more extreme high elevation variation (see the second image) drew a great deal of attention. We conjecture there is visual, auditory and perhaps aromatic appeal. That students might want to interact with other students is noteworthy. Of interest is whether a student observing others nearby drink various beverages might tempt the student to experiment.
We certainly did NOT expect that students would be willing, even eager, to pour tea for other students. That does not sound very autistic to us.
As is well-known, sensory hypersensitivity is common in the autism spectrum. For visual or optical challenges there are two aspects – control of the lights used to illuminate classrooms and living spaces AND protective eyewear. One of the older and frequently cited papers is (1985) The Effects of Fluorescent and Incandescent Lighting on the Repetitive Behaviours of Autistic and Intellectually Handicapped Children, Australia and New Zealand Journal of Developmental Disabilities, 11:3, 137-141,
As it happens, there are a number of causes of visual hypersensitivity: (1) medications like tetracycline and digitalis; migraine headaches; some types of dyslexia; meningitis and lupus; as well as some types of macular degeneration and cataracts. There are certainly night blindnesses that are caused by vitamin shortages – typically of vitamin A, C, E, lutein and beta-carotene.
So I asked the grapevine for genes implicated in photophobia. So far, the count is 43.
A student wearing glasses that block some blue and white light
A few points:
- Realistically, EVERY bus transporting special needs students needs to have an aide on board.
- We have often asked audiences who the most important person in the daily life of a special needs child is. The answer we always suggest is the bus driver on grounds that if the bus ride is bad the day usually will be a disaster.
- In this case the problems are (a) no aide on-board (b) a driver who clearly went off the rails and (c) the aide who did approach the bus should have intervened.
- Even when the people all function well there are mechanical failures, traffic, medical emergencies …
- Then there’s the problem that the students might be actively reluctant to get on the bus in the future.
- There’s a bit of an inability to scale at issue here: if the student is 6’5″ and 275 pounds I doubt trying to take away the backpack would end well.
The comment I wrote was “There are already over 200 genes (24,000 protein coding genes) in almost 100 named syndromes on all 23 chromosomes implicated in autism spectrum disabilities so we’re not persuaded even autism spectrum is a very useful term. That said, by some standards one could say Gates, Mozart and Newton had autism spectrum disabilities. Germany isolated and killed special needs individuals at Hadamar, Spiegelgrund and other T4 facilities – that was not a bright moment in human history. On a much smaller scale, neither was this incident.”
- The question to answered by a school bus driver, a school district or a society is ‘do you have currency, compassion and courage to deal with the weakest members of your cultural group – the old, the very young, the poor, and in this case, the disabled’?
It is one thing to recognize a courageous act by someone else. It can be said that recognizing that courage itself takes some courage – the recognizer is likely to be saying to a complete stranger something like “That was a brave thing you just did”.
So what can someone who is autistic or is otherwise struggling with an expressive language disability do when they discern that someone is being courageous? Chatting with anyone, let alone a stranger, is just not in the wheelhouse. What we teach is the student is to close their right fist and point the right thumb upward perpendicular to the fingers. Just for reference, normally the inside tip of the thumb is touching the middle joint of the the middle finger. The fist then touches the chest (gently) over the heart. Then the fist moves two or three inches away from the chest and toward the person whose courage is being recognized.
When a class or the school more formally recognizes someone’s courage we ask them to come to an exhibition. The class will be dressed in formal silks and equipped with eagle-style kwan daos. If the honored guest is entering from stage right, for example, the class will be lined up in single file about 30 inches apart and facing the the right. The kwan dao is in the left hand. As the honored guest walks to his or her seat the students in series will turn ninety degrees left (so back to facing the audience) as the guest passes. The right hand grasps the kwan dao shaft below the left hand and the fingers and wrists are flexed to make the tassel and flag move. The ritual was used years and years ago when the Emperor of all China wanted to impress a visitor. Being saluted in this manner is quite a unique experience.