Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome

Autism spectrum disorder is an emerging public health issue. The core features of autism spectrum disorder are persistent impairment in reciprocal social communication and interaction and restricted, repetitive patterns of behavior or interests. We now know that it encompasses disorders previously referred to as early infantile autism, childhood autism, Kanner autism, high-functioning autism, atypical autism, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. While it is agreed that the etiology of autism spectrum disorder is largely unknown, certain environmental and genetic factors may be responsible for the disease. In particular, emerging evidence has suggested the role of C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene as a possible risk factor. We present the case of a two-year-old boy with high risk for autism who was found on advanced investigation to have heterozygous polymorphism for MTHFR. This prompted us to add folic acid to his therapeutic regime. He was treated with high-dose folic acid along with conventional intervention, and went on to make excellent recovery. We conclude that pharmacological intervention has the potential to improve outcome in a subgroup of autistic children.