In the fall of 2006, Liz and Peter Bell started to notice behavioral and neurological regression in their 13-year-old son, Tyler.

His symptoms quickly progressed from what his parents thought was typical teenage sluggishness to full-blown catatonia. One morning, his mother started the shower for him and then went to help the other children get ready. “When I came back ten minutes later he was still standing there, shivering, hadn’t even reached for the towel,” she recalls.

Tyler had been diagnosed with autism ten years earlier, but till then, he had still had strong motor abilities, even going on 20-mile bicycle rides with his family. Those skills disappeared over the course of a few months.

By the spring of 2007, Tyler wasn’t eating or talking much, and his right foot dragged across the ground when he walked. He “looked very Parkinsonian,” she says.

Trying to make sense of Tyler’s sudden deterioration, his neurologist in Sacramento, Michael Chez, gave him a complete medical work-up — including a spinal tap to collect a sample of cerebrospinal fluid.

Chez sent the spinal fluid to Keith Hyland’s neurochemistry lab in Atlanta, known for its specialized analyses. The fluid showed rare abnormalities: low levels of dopamine, serotonin, and folate — a B vitamin that’s essential for DNA synthesis.

Folate is found naturally in many foods. After it is ingested, the body begins to break it down in the bloodstream, from where it travels to the brain, binds to receptors at the blood-brain barrier, and breaks down further before finally reaching the spinal fluid and central nervous system.

This kind of cerebral folate deficiency (CFD) is rare: since its first report in 1994, only an estimated 100 cases have been documented worldwide.

In December, neurologist Vincent Ramaekers reported that of 25 children with early-onset, low-functioning autism and serious neurological deficits, 23 have lower folate levels in their spinal fluid than do controls1. Treating these children with folinic acid — a reduced form of folate — significantly improves their neurological function. In two of Ramaekers’ cases, he claims, it led to a full recovery from autism, though this has not been confirmed by other research groups.

“I suspect that children with the folate problem is a special subgroup of children with autism, but we don’t know how big this subgroup is in the whole population,” says Ramaekers, head of the Center for Autism at the University of Liège in Belgium.

In June 2007, Tyler began taking an oral folate supplement. Within a month, his mood brightened, he started eating again and his walking skills returned. “He was in the world again, when he had been pretty checked out before that,” Bell says.

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