Functional Medicine Day: Autism Spectrum Disorder « Integrative Medicine and Wellness

Welcome to the Functional Medicine day. Today we are welcoming functional medicine doctors and interested health care consumers to discuss this cutting-edge approach to medicine. I am posting this interesting case to get the conversation started. [Note to visitors: To learn more about functional medicine, you can download this PDF file: What is functional medicine?]

Autism is a growing concern, with increasing numbers of children being diagnosed, especially boys. Incidence of autism is now about 1/166, which represents about a tenfold increase in the past 2 decades, although the numbers vary according to researcher. The causes are not yet fully determined, but we do know that, as typical of most diseases, autism is multifactorial.

The main causes appear to be mitochondrial dysfunction, detoxification dysfunction and intestinal fungal overgrowth. This latter cause, according to autism expert Sid Baker, MD, occurs in about 1/3 of cases with aggressive antifungal therapy resulting in complete remission in many.¹ Nutrients reported to help autistic children include magnesium, vitamins B2 and A, and medium chain fatty acids. There have been reports that many autistic children have problems eliminating heavy metals, especially mercury.

Case Study

This child, now seven, was first brought to see me at age two. His mother reported that she had seen some symptoms at age 1 (repetitive behaviors), but they disappeared when they removed nuts from his diet. He was growing normally and apparently meeting milestones until age two when he started to get physically weak. This was first noticed when he became unable to climb the gym set at the park which he had climbed with no problems many times before.

Relevant family history is that his parents (mother 49, father 55) were supposedly infertile ( >12 known miscarriages). Unexpectedly, his mother maintained her pregnancy and successfully vaginally delivered him and his fraternal twin. His problems are not surprising considering the history of unsuccessful pregnancies and parents’ age well beyond optimal. His fraternal brother is relatively normal, although he does suffer from migraine headaches and food allergies.

Screening blood tests (which showed elevated serum lactic acid) and evaluation of developmental landmarks by a pediatrician resulted in a presumptive diagnosis of autistic spectrum disorder. Conventional care offered little hope, so his parents sought help elsewhere. An elevated lactic acid can be an indication of mitochondrial deficit, so I initially put him on high levels of vitamin B2 and modest levels vitamin B1, Mg, creatine, acetyl-L-carnitine, NAC, glutathione, lipoic acid, and CoQ10 — a combination of nutrients that would promote energy metabolism while bolstering mitochondrial antioxidant defenses. Later, after doing a urinary organic acids profile, we refined his supplement program and had his mother start giving him medium chain fatty acids (two grams per day). These fatty acids from coconut oil are more easily metabolized by the mitochondria for energy production. The results were remarkable: he became much stronger, and his autistic symptoms all resolved.

Although he is not cured, his metabolic function has been much improved; however, if he stops taking the supplements, he quickly starts to deteriorate. Activation of his mitochondria requires 100 mg/d of B2 (about 50 times the RDI).

His health is not perfect; he is still somewhat physically fragile, and I know we haven’t found or fixed all his problems. But if you met and talked with him, you would only see a bright, engaging boy, a bit small for his age.

Interestingly, in reviewing this with his mother before posting his story on the blog, she now feels that his apparent developmental deficiencies were all due to muscle weakness rather than mental issues. Her comment:

Brent (not his name) was having problems learning to read, and he would ask me, “Mom is that an “i” or an “l”, or is that an “h” or an “n”, and I was very concerned thinking he was slipping mentally, as he should have known this without any problem at this stage. But I would notice at other times he could read words easily, especially if they were listed rather than in sentence form. I also noticed the longer he tried to read a book, the worse his word recognition or decoding became. I was talking with a counselor at his school, and she explained it is much harder for the eyes to track horizontally between each small word and that the eye muscles have to develop the coordination and strength. When she said muscle strength, I knew immediately Brent’s problem was eye muscle weakness, not loss of mental function. I explained the problem to him; we changed how he reads, and he got his self confidence back and is now decoding and reading quite well. So, he obviously has muscle weakness throughout his body. The other very obvious place being his swallowing difficulties.

I can understand how a mother would not want her child to be diagnosed as autistic. And autism syndrome covers a wide range of dysfunction, ranging from mild to severe. She may be right that most, if not all, of Brent’s developmental problems could be explained by muscle weakness secondary to mitochondrial dysfunction. As we progressively restored his mitochondrial function, his muscles began developing again, and his physical and mental deficiencies eventually resolved.

The problem with an autism spectrum disorder diagnosis is that there is no specific confirmatory lab test–it is more a diagnosis by exclusion. If we had not caught this early and normalized his mitochondrial function, it is highly likely it would have resulted in (further?) neurological damage and converted his presumptive diagnosis into full manifestation.

Regardless of the diagnosis, Brent clearly has a significant mitochondrial defect that resulted in serious problems, most all of which we were able to resolve with a sophisticated nutritional intervention.