In a case report published a few months before my Medical Hypotheses paper — claiming vitamin D is at the heart of the autism epidemic — Drs. Stewart and Latif of the Royal Glamorgan Hospital in South Wales published a case report of a child with autism who also had rickets. However, they failed to connect the dots and did not even discuss the possibility that the vitamin D deficiency had anything to do with the autism.
This 15-year-old-boy was first diagnosed with autism at age 12 despite showing clear autistic symptoms from age 4. He complained of bilateral leg pain and could not go up the stairs on his own due to muscle weakness. He ate no dairy products and refused to leave the house so he had no source of vitamin D. His family was under investigation by child protective services, probably for what appeared to be neglect.
On exam, he was very small for his age, pale, had swollen joints, and was clearly weak, too weak to stand from a seated position. His lab showed an elevated alkaline phosphatase (1024) but rickets was not evident on his X-rays, although severe demineralization was. His 25(OH)D was so low, it was undetectable.
Despite the lack of X-ray evidence of rickets, he was diagnosed with rickets (probably on the basis of the elevated alkaline phosphatase) and, despite having an undetectably low 25(OH)D, was treated with only calcium and multivitamins. In six months, he was improved except his alkaline phosphatase was still elevated (566). If the doctors repeated the 25(OH)D, they did not report the value. The rest of the paper deals with the importance of nutrition in autism, especially the 29% of autistic children with iron deficiency.
In spite of his rickets, and in spite of his undetectably low 25(OH)D, this boy did not receive the usual treatment for rickets, large doses of vitamin D and calcium. Had he received such treatment, someone might have noticed that the possibility of a relationship between vitamin D and autism earlier.
This case report requires several points of clarification. One, while Dr. Stewart did not say, I hope child protective service left this family alone after the rickets disappeared. Two, the doctors apparently would have missed the diagnosis of rickets if they had only relied on the radiologist; apparently, the elevated alkaline phosphatase was the clue. For a bizarre set of reasons, numerous pediatric radiologists, when they read a rachitic x-ray, believe rickets is child abuse. Tragically, they never learned the difference.
For those unfortunate families that are innocent but accused of child abuse, be sure to get a “bone fractionated alkaline phosphatase” along with a 25(OH)D on your child. In fact, for any parent, the next time you take your child to the doctor, if you ask for a bone fractionated alkaline phosphatase, you’d be surprised how often it is elevated in “normal” kids. If elevated in children, it is usually due to vitamin D deficiency or subclinical rickets.