Autism, Muscular Problems and Breathing – the surprising ways vitamin C deficiency can show up in autistic children and how its correction can save heartache and money.
Classic vitamin C deficiency is typically associated with scurvy, the disease known in colonial times to be linked to trans-Atlantic sailors that was corrected by consumption of citrus. In fact, the once pejorative term ‘limey” was given to British sailors who prevented scurvy with the addition of lime juice to their daily rations.
Today, scurvy is considered quite rare. However, the reality is that scurvy is a late-stage and overt manifestation of severe long-term vitamin C deficiency. Before common symptoms of full-blown scurvy appear (weakness, fatigue, muscle soreness and the classing scurvy sign, bleeding gums), a person may have what is called a subclinical vitamin C deficiency. This usually exists for a very long time prior to obvious symptoms. In other words, scurvy doesn’t happen overnight. As vitamin C becomes more and more deficient, the symptoms become more and more obvious.
Since vitamin C, like all nutrients, has more than just a single function in the body and works in tandem with other nutrients, its deficiency compounds over time. In other words, a subclinical deficiency will usually become an overtly symptomatic clinical deficiency if not addressed. The puzzling part is that deficiencies manifest differently from patient to patient. But a physician who appreciates the fundamental nature of molecular nutrition (or lack of) and its impact on the body is better equipped the see these elusive pieces of the diagnostic puzzle.
The case referenced below is an excellent example. Two children (both male, ages 6 and 5) with autism were taken to the hospital for progressive worsening shortness of breath. Interestingly, both children also had refused to walk for several weeks prior to hospitalization because of severe muscle pain in their legs. Upon admission to the hospital, both boys had elevated heart rates and difficultly breathing. A pulmonary vasodilator was given to both boys to facilitate breathing. The 6 year old was admitted to intensive care. Bloodwork showed several micronutrient deficiencies: vitamin B1, folate, copper, zinc, vitamin D and iron. But the most severe deficiency was vitamin C which was undetectable in both boys. (The other nutrients were low but at detectable levels).
Based on lab results, the boys were given vitamin C on the first day of hospital admission. The 6 year old boy was discharged after 13 days in the hospital. At that point, vitamin C levels had improved dramatically after aggressive supplementation in the hospital. The 5 year old boy was discharged from the hospital after five days of supplementation with both vitamin C (orally) and vitamin B1 (intravenously). The caregivers of both boys were counselled in the hospital about micronutrient supplementation and nutrition to prevent this occurring again in the future. It was discovered that because of the boys’ autism, they were extremely picky eaters who refused all fruits and vegetables for well over a year and had subsisted mainly on rice and boiled eggs.
According to the literature, the typical vitamin C deficiency symptoms include the following:
-Fatigue
-Weakness
-Loss of appetite (compounding the already finicky eating patterns of these boys)
-Perifollicular petechial hemorrhage (red, bruise-like spots around hair follicles that look like a rash)
-Bruising
-Bleeding gums
-Bone or limb pain
Interestingly, both patients indicated some of the above listed symptoms prior to hospitalization, for a significant time period. Both had loss of appetite and weakness. The 6 year old patient had corkscrew hair on his limbs (aka perifollicular petechial hemorrhage), which happens when the capillaries around hair follicles are damaged that then causes what looks like ingrown hairs on various parts of the body. Since vitamin C plays an important role in regulating the synthesis of collagen, and collagen is present in our blood vessels to help our arteries and capillaries maintain structure and shape, a deficiency (whether clinical or subclinical) will often manifest in seemingly weird ways – like ingrown hair-like rashes and limb pain. In fact, in both the patients from this case study, they experienced intense limb pain that resulted in the patient refusing to walk.
It was not until their shortness of breath became extreme that they were taken to the hospital where the vitamin C deficiency, which at this point was very severe, was uncovered. A rare symptom of vitamin C deficiency is breathing difficulty due to pulmonary arterial hypertension, which is how both of the patients presented at the hospital, although in retrospect, it is clear that vitamin C deficiency symptoms were present prior to hospitalization. The pulmonary arterial hypertension was ultimately a result of collagen dysfunction from lack of vitamin C. The mechanism of action is a combination of factors:
-Vitamin C directly regulates the enzyme prolyl hydroxylase which is a key protein for the synthesis of collagen. Hydroxylation (which is simply a chemical process of adding an oxygen and hydrogen atom) of collagen is what gives it the stability to support various tissues, such as blood vessels and the epidermis of the skin.
-Vitamin C is involved in the synthesis of nitric oxide (NO), which acts directly on the lining of blood vessels as a signaling molecule for smooth muscle to relax. This results in blood vessels opening up and increasing blood flow. Low vitamin C causes the arteries in the lungs to resist relaxing, keeping them stiff which can restrict blood flow. In these young patients, that eventually caused their pulmonary arterial hypertension (PAH), and shortness of breath.
-Vitamin C regulates the enzyme prolyl hydroxylase, which in turn regulates another protein called HIF (hypoxia inducible factor). Low vitamin C increases HIF which causes blood vessels to constrict.
-Vitamin C has potent antioxidant effects. Evidence suggested PAH is also linked to an excess of reactive oxygen species, which are basically damaging molecules that are neutralized by antioxidants, such as vitamin C.
It is obvious that vitamin C deficiency is much more than the age-old scurvy cases. In another case report published this year2, an 11 year-old boy displayed similar and seemingly enigmatic symptoms – bone pain and infections, muscle soreness in the legs and mild pulmonary hypertension. This boy also had a developmental disorder and a highly self-induced restricted diet. Once a diagnosis of scurvy was made on this boy and he received intravenous and oral vitamin C, his joint and muscle pain was gone in a week. Again, the clinical presentation was not “classic scurvy” but instead was primarily musculoskeletal until the pulmonary hypertension warranted a closer look.
Monitoring micronutrient status periodically could have prevented all three cases from becoming as severe as they did. Although drawing blood on children to monitor their vitamin and mineral levels is certainly not routine, it is worth noting that in some cases that are difficult to diagnose, nutrient deficiencies are often an underlying and routinely neglected cause. That, combined with the fact that nutrient repletion is typically safe and relatively inexpensive, makes assessing nutrient status an incredibly underrated and underutilized resource in standard medical care.
-For more information on the case studies (6 year old and 5 year old) paper, click here for the ABSTRACT and click here for FULL TEXT.
-For more information on the case studie (11 year old) paper, click here for the ABSTRACT.
-For more information on the physiologic role of micronutrients and autism, click this link:
Micronutrients and AUTISM.
-For more information on the physiologic role of micronutrients and attention deficit disorders, click this link: Micronutrients and ADHD.
REFERENCE
1Sakamornchai et al. Case Report: Vitamin C combined with multiple micronutrient deficiencies is associated with pulmonary arterial hypertension in children with autistic spectrum disorder. Case Reports: Front Nutr 2022 Oct 20;9:928026.
2Ueki et al. Rheumatologic manifestations with elevated levels of IL-6, IL-17A, and IL-23 in a patient with scurvy. Mod Rheumatology Case Reports 2023;7(1):302-306.
