Autism Diagnosis and Workup

I spend so much time convincing other medical professionals that autism is an epidemic – and that something can be done about it – that I rarely get to offer exactly what it is that I do to help affected individuals. ASD is a complicated and mysterious set of medical conditions that appears to have several different etiologies. Therefore the work-up – from the History and Physical Examination (H&P), to the laboratory investigations, to the medical intervention – starts out in a general way. Subsequent examinations and labs will depend on the outcomes of the previous findings; and most importantly, on the patients’ responses to initial treatments. The general evaluation includes the following (with the caveat that variations arise depending on age, sex, presenting symptoms, findings on previous labs, and other factors affecting the art of medicine):

H&P – 10 minutes with the pediatrician is just not enough. The interview should include medications that were taken during pregnancy, plus a thorough feeding and family history. Careful attention to vital statistics will help, especially an accurate head circumference determination with follow-up charting. A Denver Developmental Evaluation is simply not sufficient. Nowadays, some type of autism checklist should be documented.

Audiology – I actually had a patient from Canada who never received audiology testing. The child was deaf, not autistic.

MRI – Although there is some evidence that changes may take place as early as 6 months, the value of this 3D brain picture needs to be weighed against the risk of general anesthesia (movement affects the quality of the scan). I haven’t found this test to be of great value. However, the family does get assurance that the brain, at least, looks OK.

EEG – Even if there is no history of visible seizure activity (loss of consciousness or jerking of the muscles), Drs. Rossignol and Frye are well-known autism doctors who are teaching us that a 23 – 72 hour brain-wave test (especially including a period of sleep) may be helpful in ascertaining electrical spikes which could have detrimental effects upon the child. Now, getting the kid to cooperate is another matter. Then, there is getting a qualified pediatric neurologist to read it. Then, there is a controversy about whether to treat electrical short-circuits. Then, there is the risk of medications for treating brain convulsions. Very complicated.

CBC – It seems that the only patients who get out of a doctor’s office without a Complete Blood Count are children. Forget about HBOT; if you want to get increased oxygen to the brain, why not make sure that the child isn’t anemic?

Blood Lead and Mercury levels – There is a great deal of controversy over heavy metals that may be ‘locked’ in the brain and other tissues. When evaluating patients, however, at least assuring parents that the child is not actively heavy-metal poisoned is helpful. There are many practitioners who also check hair and urine for multiple metal intoxications. I object to the use of a provocative agent (EDTA, DMPS, DMSA) to induce metal excretion without first checking the baseline levels. Little else in medicine is approached in such a manner.

Other metals – Magnesium, calcium and zinc are important in many biological reactions, and children who are generally picky eaters may not be getting enough essential nutrients. Deficiencies could cause symptoms that present as G-I or skin conditions.

Thyroid evaluation – Let’s see. The patient displays symptoms that include over- or under-activity. How do we know that this is not a thyroid problem, if this organ doesn’t get checked? We don’t.

Chromosomes – for Rett’s syndrome (females), Fragile X and microarray. Parents get told all the time that, “Autism is genetic, there’s nothing that can be done other than therapies.” Well then, why not check the chromosomes? If everything is OK in that department, the condition should be more amenable to medical intervention than previously (conventionally) believed.

G-I Health – I prefer a comprehensive stool examination that includes the types of bacteria, presence or absence of yeast, and the state of digestion of fats, carbohydrates and proteins. Toilet training can be much more effective when gut health is restored. If a person acts like they have ‘ants in their pants’, sometimes they actually do!

Food Allergies – Call it reactivity, food sensitivity or allergy. When the body reacts to an environmental agent by producing an immunoglobulin, inflammation results. Reducing overall energy-depleting reactions in my young patients often results in significant improvement in fog, eye contact and communication. A gluten-free, casein-free diet will generally not work if: 1) The patient is not allergic to gluten and/or casein or 2) The child continues to ingest something else that  is very reactive. So, I test for multiple substances and ‘The Diet’ is the The Patient’s Diet. Additionally, I often evaluate G-I health with levels of morphine coming from gluten and casein (‘leaky gut‘).

Vitamin levels – Vitamin A and D levels are a good way to assess the patient’s state of nutrition. The low Vitamin D levels here in Florida are surprising. Is it sunscreen or lack of going outside to play? With evidence that autism may be due to vitamin deficiency, this is easy to check and address.

Comprehensive metabolic profile – Liver and kidney function can not only be documented, but serve as a baseline for future interventions, such as tolerating other medications that may be required.

Lipid panel – Both high and low cholesterol may cause health problems. If the levels are elevated, it can engender a discussion about what diet would be preferable. Very low levels are amenable to medical intervention which is often helpful with eye contact and communication improvements.

The list serves as a general guideline, at this point in time, with the technology that we now have, and the state of our knowledge. Therefore, frequent changes are to be expected.

That said, this can be a place to start in order to evaluate the cause, symptom complex, and treatment of a patient with ASD. Most of the laboratory tests are usually covered by some sort of insurance and the more exotic testing may be reserved for later dates, as the patient goes through treatment. Although there may be some controversy over which specific test(s) are more or less helpful, there can be no argument that such a framework is in the patients’ best interests and has a better chance to lead to successful treatment than merely stating, “The child has autism, and that explains everything.”

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3 Responses to “Autism Diagnosis and Workup”

  1. joseph gautier says:

    good post Doc. so was the MiraLAX one – something you wrote made a bell “ding” go off in my head that helped with a situation.

  2. YG says:

    I have to agree with your comment on the pediatrician’s visits. I came to this country as an adult so my only memory of a pediatrician is that in my native land. My memory of those visits is dreading the long time spent in the doctor’s office (with the doctor, not in the waiting room!), and the feared needle because a blood test was a certainty. Before the visit I also had to produce and send to a lab an urine and stool sample. So all that was used to test for illnesses, deficiencies and parasites. The visit included of course all the standard stuff too weight, height, meassurings and also hearing and vision tests. Those last two, nothing too involved, but enough to detect if I needed to go see a specialist. Since I had kids I have always been shocked at the ped visits here. My expectations were that the care would be far above the one I got, but my kids never get tested for anything unless there appears to be a cause of concern – so lets wait till the kid looks sick before we do anything, maybe – and the time in the waiting room is ten times or more longer than the time spent with the doctor. The whole visit is so uninvolved I often walk out of there so tired and frankly confused after so much waiting and just wondering what just happened?!

    • Dr. Udell says:

      Yeah… I’m not sure what happened to pediatricians/ pediatric care here in this century. I had role models such as Dr. Spock and T.Berry Brazelton, and now it’s Dr. Oz. Fame and riches seem to be a more important goal than just taking great care of the patient.

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