A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Winter, 2021 | Number 1, Volume 35

Case study: folate benefits child at high risk for ASD

Clinicians in India report a case study in which they successfully treated a child at high risk for autism due to a variant in a gene involving the folate pathway. 

The child, who was two years old when the doctors saw him, exhibited a number of autistic-like behaviors including speech problems and a lack of eye contact. He was heterozygous for a MTHFR gene mutation called C677T that reduces the ability to convert folic acid into its active form, methylfolate. Previous research has suggested that this mutation may play a significant role in autism. 

The clinicians started the child on high-dose folic acid (2.5 mg once a day, given orally) along with behavioral training and speech therapy. They say, “On follow-up three months later, the mother reported improved behavior with the child using words to express his needs, albeit infrequently. He was now making some eye contact when addressed directly. When the Childhood Autism Rating Scale (CARS) was performed six months later at 30 months of age, it was not indicative of any feature of autism.” 

They conclude, “Genetic workup for MTHFR gene polymorphism must be considered in children diagnosed with autism spectrum disorder, particularly when basic workup has been noncontributory.”


“Clinical relevance of methylenetetrahydrofolate reductase genetic testing in autism: a case report of successful clinical outcome,” Sufyan Fadila, Praveen Suman, Praveen Kumar, and Faraz Omair, Cureus, January 2021 (free online). Address: Sufyan Fadila, [email protected].