This article is a companion piece to the story of Evan Carkhuff, a child diagnosed with autism who went many years with neither a medical diagnosis nor an explanation for his medical condition. Here we explain the medical science of the underlying neurodevelopmental disorder with which he was eventually diagnosed, called cerebral folate deficiency (CFD). As you will read from the description of his disorder in the accompanying article, Evan had several atypical characteristics that led some physicians down a wrong path.

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