Promising Autism News

Patient’s families, acquaintances and colleagues frequently supply autism stories and ask my opinion about them. Focusing on treatment, I have found the recent research, A randomized controlled trial of bumetanide in the treatment of autism in children, in Translational Psychiatryto be the most compelling. This information may represent a path to some of the most promising medical alternatives available to address the ‘stop-calling-it-autism‘ epidemic.

The authors first reported their protocol for ASD 2 years ago in an article entitled, The diuretic bumetanide decreases autistic behavior in five infants treated during 3 months with no side effects.

At this point, I hasten to further explain, lest the less-than-scientific and/or more-than-willing-to-take-advantage minds out there drum up similar sounding explanations and desperate parents jump at not-exactly-the-same-thing therapies. Proceed at your own pace (and feel free to question and/or correct me in comments), but here is the line of thinking that this theory proposes:

The brain functions as it does by sending and receiving chemical and electrical messages. For a variety of reasons (genetic<->environmental), an alteration occurs that affects the neuron’s ability to correctly move chloride in and out of the cell membrane. If that ion builds up inside the cell, the neurotransmitter GABA doesn’t work as it should, leading to altered inhibitory connections resulting in modified pathways in the brain of affected individuals, and many of the downstream behaviors that follow.

To test that approach, the investigators gave 5 patients (4 boys and 1 girl), ages 8-11 years, a powerful diuretic medicine (Bumex ®), that specifically lowers intracellular chloride, every day for 3 months. Five (well-accepted) rating scales were assessed, before and after treatment. For the most part, there was significant improvement in the patients’ ‘autism’. Not all areas showed improvement in all of the children, and it was observed that the younger ones did better.

Fast forward to the present research involving 60 patients (50 boys, 10 girls), ages 3-11 years, who were randomly chosen to either receive the same powerful diuretic medicine or placebo for 3 months, with autism scoring before and after that time, and again 1 month after treatment was discontinued. Three (well-accepted) rating scales were utilized. Statistically significant improvement was best documented when the ‘most severe’ cases were not included in the evaluation. The principle side effect was a mild, treatable, short-lived reduction in blood potassium. One set of results in the study revealed an increase in the autism scores 1 month after discontinuing the protocol, which begs the question, “Does the treatment last?”

Why I like the protocol
Intracellular chloride concentrations are higher in younger patients, helping to explain why the young are the most affected, and achieve greater success with this treatment. It might elucidate the observation that there are a number of disparate treatments which have appeared to improve various behaviors in autistic patients. The chelating, metal-removing protocols may similarly alter ions within cells. Although other diuretic agents work in a different manner, just moving water around cells may lead to similar, but less effective improvements. Treatments that enhance energy production might be helpful in moving chloride ions. GABA is directly related to muscle tone, which is an important sign in ASD patients. Oxytocin, which has been reported to improve some symptoms, also affects chloride concentration. This therapy targets inhibitory functioning, which appears to be a clinically significant problem (everything goes in, little comes out). If cellular chloride concentrations are affected by genetic and environmental differences, this could account for the various presentations of the disorder that we call autism.

Don’t try this at home
The treatment is only at an experimental stage. At this early juncture in our knowledge, we need to recognize that the child should have a normal electrocardiogram, serum electrolytes, and a healthy liver and kidneys. Side effects can include dehydration, orthostatic hypotension, hypersensitivity, cramps, low tone and activity, diarrhea, myalgia, arthralgia, nausea, or dizziness. The physician’s desk reference also lists headache, hyperuricemia, hypokalemia, hyponatremia, hyperglycemia, azotemia, and increased serum creatinine. Excessive urinating, loss of toilet training and bedwetting may increase. Electrolyte levels in the blood may need to be followed closely.

Proceed with caution
Finally, we should proceed with caution with this possibly promising new therapy. Bumetanide is a drug for treating severe congestive heart failure and is not presently approved for use in children. Therapies that we already use help many patients recover without as many risks, and the most affected and older patients seem to gain the least benefit.

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