Researchers studied 78 people with autism to understand if a specific gene called MTHFR affects how severe their autism symptoms are. MTHFR helps your body process folate, a B vitamin important for brain development. The study found that people with lower MTHFR activity tended to have more noticeable autism symptoms. While this is interesting, the study was small, so scientists need to do more research before making big changes to how autism is diagnosed or treated. This finding could eventually help doctors identify autism earlier and create personalized treatments.

The Quick Take

  • What they studied: Whether a gene called MTHFR, which helps your body use folate (a B vitamin), affects how severe autism symptoms are in people with autism spectrum disorder.
  • Who participated: 78 people who had been diagnosed with autism and had already been tested for their MTHFR gene activity levels.
  • Key finding: People with lower MTHFR activity had more severe autism symptoms. The connection was statistically significant (p<0.05), meaning it’s unlikely to be just by chance, though the study was small.
  • What it means for you: This research suggests that checking MTHFR levels might someday help doctors understand autism better and possibly create personalized treatments. However, this is early research, and you shouldn’t make any health decisions based on this single study. Talk to your doctor before pursuing any MTHFR testing or treatments.

The Research Details

This was a straightforward observational study where researchers looked at existing information from 78 people with autism. Each person had already been tested to measure how well their MTHFR gene was working. The researchers then looked at how severe each person’s autism symptoms were using standard diagnostic criteria (DSM-5 guidelines). They used statistical methods to see if there was a relationship between MTHFR activity levels and autism severity.

The researchers didn’t assign people to different groups or give them treatments—they simply analyzed data that already existed. This type of study is useful for spotting patterns and connections, but it can’t prove that one thing causes another.

Understanding which genes might influence autism severity could eventually help doctors catch autism earlier and create treatments tailored to each person’s specific genetic makeup. If MTHFR activity really does affect autism symptoms, it might open new doors for helping people with autism.

This study has some important limitations to keep in mind. The sample size of 78 people is relatively small, which means the results might not apply to everyone with autism. The study was observational, so it can show a connection between MTHFR and autism severity but cannot prove that MTHFR causes more severe symptoms. The researchers themselves noted that their conclusions are limited and that more research is needed. The study was published in a specialized medical journal, but the findings haven’t been confirmed by other independent research yet.

What the Results Show

The main finding was a negative correlation between MTHFR activity and autism severity. In simpler terms, as MTHFR activity went down, autism symptoms tended to get more severe. This relationship was statistically significant (p<0.05), which means researchers are fairly confident this pattern wasn’t just due to random chance.

People in the study with lower MTHFR activity showed more noticeable challenges in social communication and repetitive behaviors—the core features of autism. These severity measurements were based on standard diagnostic criteria that doctors use to assess autism.

The researchers suggest this finding could eventually help identify which people with autism might benefit from interventions targeting folate metabolism. However, they emphasize that this is preliminary evidence and much more research is needed.

The study didn’t report other major secondary findings. The researchers focused primarily on the relationship between MTHFR activity levels and overall autism severity as measured by DSM-5 criteria.

This research adds to a growing body of work suggesting that folate metabolism—the process your body uses to handle B vitamins—might play a role in autism development and severity. Some previous research has suggested that folate-related genes could influence neurodevelopment, but direct evidence linking MTHFR specifically to autism severity has been limited. This study is one of the first to directly examine this connection in a clinical group, though the small sample size means it’s preliminary evidence rather than definitive proof.

The biggest limitation is the small sample size of 78 people. This makes it harder to be confident that the findings apply to all people with autism. The study is also observational, meaning researchers couldn’t control all the factors that might affect results—things like diet, supplements, other genes, or environmental factors. The study doesn’t explain why MTHFR activity might affect autism severity, only that there appears to be a connection. Finally, the findings haven’t been replicated by other independent research teams yet, which is important before making clinical recommendations.

The Bottom Line

Based on this single study, there are no strong recommendations for changes to autism diagnosis or treatment. The evidence is interesting but preliminary. If you or a family member has autism and you’re curious about MTHFR testing, discuss it with your doctor or a genetic counselor. They can help you understand whether testing makes sense for your situation and what the results would mean. Do not start supplements or treatments based on this study alone without medical guidance.

This research is most relevant to people with autism and their families who are interested in understanding the genetic factors behind autism. Doctors and researchers studying autism development should be aware of this finding as it may inspire future research. However, this study is too preliminary to change how autism is currently diagnosed or treated in clinical practice. People without autism don’t need to worry about MTHFR testing based on this research.

If MTHFR-targeted interventions are eventually developed based on this and future research, it would likely take several years of additional studies before they become available in clinical practice. This is not something that would show immediate results—it’s part of long-term research to better understand autism.

Want to Apply This Research?

  • If you have autism and are interested in this research, consider tracking your folate intake (through foods like leafy greens, legumes, and fortified grains) and any changes in symptom severity or daily functioning. Note dates and any supplements you take. This personal data could be useful to discuss with your healthcare provider.
  • If you have autism, you could work with a nutritionist to ensure you’re getting adequate folate through diet. This is a safe, general health recommendation regardless of MTHFR status. Track which foods you eat and how you feel, noting any patterns. Share this information with your healthcare team.
  • Over several months, keep a simple log of your diet (especially folate-rich foods), any supplements, and your overall functioning or symptom severity. Use a 1-10 scale to rate how you’re doing. This long-term tracking can help you and your doctor identify patterns and make informed decisions about your health.

This research is preliminary and based on a small study of 78 people. The findings have not been confirmed by other independent research. This information should not be used to diagnose, treat, or manage autism or any other medical condition. If you or a family member has autism and are considering genetic testing or any new treatments, please consult with a qualified healthcare provider, such as a neurologist, developmental pediatrician, or genetic counselor. Do not start any supplements or treatments based on this study without medical supervision. Always discuss any health decisions with your doctor.