Good morning, good afternoon, and good evening, everyone. Today I will be discussing our research on the relationship between methylene tetrahydrofolate reductase, or MTHFR for short, gene variations, and the severity of autism spectrum disorder, or ASD. As many of you know, ASD is a neurodevelopmental condition marked by challenges in social communication and repetitive behaviors. Both genetic and environmental factors contribute to the severity of ASD, but our understanding of these factors remains limited. This is in part due to the limited amount of research on ASD. The study focused on a specific gene, the MTHFR gene, which plays a crucial role in folate and homocysteine metabolism. Variations in the MTHFR gene, specifically the C677T and A1298C mutations, can lead to reduced enzyme activity. These variations are graded by GenoMind, a genetics testing lab, on a scale from low or absent to high or normal activity. In the context of ASD, where the special needs population is often underserved and under-researched, our objective was to explore whether MTHFR activity levels correlate with ASD severity. MTHFR was specifically chosen due to seeing a trend in the genetics testing results of Rowan Virtua Regional Integrated Special Needs Center, or RISN Centers, patients, which indicated a potential correlation between MTHFR and ASD. Our main objective was to analyze the association between MTHFR gene levels and ASD severity. We aimed to determine if lower MTHFR activity could be linked to more severe manifestations of ASD. We conducted a retrospective chart analysis on 78 patients from the RISN Center, all of whom had undergone genetic testing through GenoMind. Patients were excluded from the study if they either did not have an ASD diagnosis or did not previously have genetics testing performed. MTHFR activity was assigned a numeric value based on the four levels of MTHFR activity from GenoMind. These assignments ranged from 1, low or absent, to 4, high or normal. ASD severity was assessed based on the DSM-5 criteria and categorized into three levels, one requiring little support, two requiring substantial support, and three requiring very substantial support. We then calculated the average MTHFR activity levels for each ASD severity level and performed statistical analyses to assess the significance of our findings. Our analysis revealed a significant negative correlation between MTHFR activity and ASD severity. Patients with lower MTHFR activity tended to exhibit more severe ASD symptoms. T-tests showed statistically significant differences between the ASD severity levels, particularly between levels 1 and 3 with a p-value of 0.00005. There was also statistical significance between each of the other levels with p-values of 0.05. These results indicate a strong correlation between reduced MTHFR activity and increased ASD severity. In conclusion, our findings suggest that lower MTHFR activity may predispose individuals to more severe forms of ASD. This highlights the importance of genetic factors in ASD and suggests that MTHFR gene variations could be an important consideration in ASD diagnostics and treatment. Moving forward, further research is warranted to explore the broader behavioral implications of MTHFR deficiency and to consider early screening for MTHFR variants at the time of ASD diagnosis, potentially leading to more personalized interventions. Thank you for your attention and for listening to our research. If you have any questions about the research or the study conducted, please feel free to contact Dr. Andrea Iannazelli or myself via our contact information on the slide. You will also find our references linked to the QR code in the bottom right-hand corner. Thank you very much and have a good day.

MTHFR gene

autism spectrum disorder

ASD severity

genetic factors

C677T and A1298C mutations