MTHFR Gene & Autism: What’s the connection?

Autism, or autism spectrum disorder (ASD), is a complex disorder affecting communication, social interaction, and behavior.

It shows a wide range of symptoms, including difficulty with nonverbal cues, eye contact, and engaging in reciprocal conversations, as well as repetitive behaviors and restricted interests. [i]

While there’s no agreed-upon single cause of autism, it is believed to result from a mix of genetic and environmental factors. Though there is no definitive cure, early diagnosis, and intervention can play an important role for individuals with autism and help them achieve a better quality of life.

That said, there does appear to be a possible connection between autism and the MTHFR gene.

The MTHFR gene is responsible for converting folate (vitamin B9) into a usable form for the body. Some studies have explored a potential link between certain MTHFR gene variants and increased autism risk.

These variants might affect brain development and function due to their impact on folate metabolism and methylation processes. Research is ongoing to learn more about the MTHFR gene mutation and autism.

However, the MTHFR and autism connection is complex. Autism is influenced by multiple genetic and environmental factors, and the MTHFR gene is unlikely to be the sole cause. As of now, genetic testing for MTHFR gene variants is not a standard diagnostic tool for autism; instead, diagnosis relies on behavioral assessments and developmental evaluations. [ii]

At the Drake Institute, we use advanced technologies to develop customized drug-free treatment protocols for patients with autism.

To learn more about how the Drake Institute treats autism spectrum disorder and other brain-based conditions, please fill out the consultation form or call us at 800-700-4233.

 


What Is Autism?

Autism Spectrum Disorder, or ASD, is a neurodevelopmental disorder that ranges from mild to severe and includes repetitive behaviors, impaired social communication, restricted interests, and rigidity.

Common symptoms of autism include difficulties in processing and understanding nonverbal cues, challenges in maintaining eye contact and engaging in reciprocal conversations, misreading others’ intentions, and exhibiting repetitive behaviors or restricted interests. [iii]

Some individuals with autism may also demonstrate sensory sensitivities to certain stimuli, such as lights, sounds, textures, or foods. [iv]

Autism is believed to result from a combination of genetic and environmental factors. While there is no definitive cure for autism, early intervention and various therapies can improve clinical outcomes. In fact, at the Drake Institute, we have seen a small percentage of ASD patients no longer meet the criteria for the diagnosis following the completion of treatment.

The level of support required for individuals with autism varies widely depending on the severity of their symptoms and challenges. Some individuals with autism may require minimal support and be able to live independently or with minimal assistance in their daily lives. At the other end of the spectrum, some individuals with autism may require significant support and assistance with daily living activities, communication, and managing challenging behaviors.

Level 1

At Level 1 on the autism spectrum, individuals require minimal support, demonstrating relatively mild symptoms and challenges. They may have good communication skills and are able to navigate social interactions with some degree of success. Support at this level may focus on social skills and providing occasional accommodation as needed. [v]

Level 2

Level 2 on the autism spectrum represents individuals who require moderate support to manage their symptoms and challenges. They may face difficulties in social communication and interaction, as well as some repetitive behaviors. At this level, interventions may include structured routines, social skills training, and support to ensure their success and well-being. [vi]

Level 3

Level 3 encompasses individuals who require substantial support due to significant impairments in communication, social functioning, and even self-care. They may have limited verbal communication or be nonverbal and require specialized interventions and therapeutic support. At this level, a highly structured environment and personalized care plans are essential to address their unique needs and enhance their overall quality of life. [vii]

Signs & Symptoms Of Autism

Autistic children typically display a range of signs and symptoms that affect their communication, social interactions, and behavior. Common autism signs can include challenges in understanding and using nonverbal cues, delayed language development, repetitive behaviors, and intense focus on specific topics.

Sensory sensitivities and difficulties in understanding and expressing emotions are also prevalent. The severity and combination of these symptoms can vary widely among autistic children, necessitating early identification and intervention to provide appropriate support and therapies for their unique needs.

Some of the most common ASD symptoms are: [viii]

  • Avoids eye contact
  • Doesn’t respond to name by 9 months of age
  • Lack of facial expressions (e.g., happy, sad, angry, etc.) by 9 months of age
  • Doesn’t play simple interactive games (e.g., pat-e-cake) by 12 months of age
  • Uses few or no hand gestures (e.g., doesn’t wave hello or goodbye) by 12 months of age
  • Doesn’t share interests with others (e.g., doesn’t show you their favorite toy) by 15 months of age
  • Doesn’t point to show you something interesting by 18 months of age
  • Doesn’t notice when others are hurt or upset by 24 months of age
  • Doesn’t notice other children and play with them by 36 months of age
  • Doesn’t pretend to be someone else (e.g., teacher, superhero, etc.) by 48 months of age
  • Doesn’t sing, act, or dance for you by 60 months of age

What Is The MTHFR Gene?

Research has shown that there may be a link between MTHFR and autism. But what is the MTHFR gene?

The MTHFR gene is an important gene that helps our body use folate, a vitamin essential for various processes like DNA repair, gene regulation, and neurodevelopment. [ix]

It’s been estimated that 40-45% of the general population has one or two mutations or variants of the MTHFR gene, which impacts our body’s ability to convert folic acid (Vitamin B9) into active 5-methyltetrahydrofolate (5-MTHF).

Why Is Folate Important?

Folate, also known as vitamin B9, is an important nutrient that our body needs for several jobs. One of its main tasks is helping our cells grow and repair, which is especially crucial for things like building tissues and staying healthy.

Folate also plays a key role in a vital process called methylation. This process is affected if there is a variant in the MTHFR gene. [x] [xi]

What’s The Link Between MTHFR & Autism?

The link between the MTHFR gene mutation and autism is still being explored.

Some studies have suggested a potential association between certain variants of the MTHFR gene and an increased risk of autism spectrum disorder (ASD). These gene variants, particularly the C677T and A1298C variants, may impact how efficiently the MTHFR enzyme works, affecting folate metabolism and methylation processes.

Methylation is critical for brain development and functioning, and disturbances in this process have been proposed as a potential contributor to neurodevelopmental disorders like autism.[xii]

While there is ongoing research exploring the potential connection between MTHFR and autism, more comprehensive studies may be helpful in expanding our understanding of how specific gene variants may contribute to the risk and pathogenesis of autism spectrum disorder.

As with any complex disorder, autism likely arises from a combination of genetic, epigenetic, and environmental influences, and further research may enhance our understanding of its underlying mechanisms.

What Is Cerebral Folate Deficiency (CFD)?

Folate (vitamin B9) is very important to brain development. Current research is revealing that many kids with autism have low folate in their brains. This condition, called Cerebral Folate Deficiency, is treatable. [xiii]

How Is Autism Diagnosed?

The diagnostic process for autism spectrum disorder (ASD) involves several steps to identify and assess the condition in children. Since there is no single medical test for ASD, doctors rely on behavioral observations and developmental history to make an accurate diagnosis.

The first step is developmental monitoring, where parents, caregivers, and healthcare providers actively observe a child's growth and developmental milestones. This process involves watching how the child plays, learns, speaks, behaves, and moves to ensure they are meeting typical developmental expectations for their age.

Next comes developmental screening, which is a more formal assessment of a child's development. Clinicians use standardized questionnaires and checklists to compare a child's skills and behaviors with those of other children their age. Specific screenings for ASD are recommended at certain ages to identify any potential concerns.

If the screening indicates an area of concern, then a formal developmental evaluation is recommended.

The evaluation results help determine if the child meets the criteria for a developmental diagnosis of ASD.

Throughout the process, clinicians play a crucial role in guiding parents and caregivers, providing support, and ensuring that children with ASD receive the appropriate services and interventions tailored to their unique needs. [xiv]

Can Children Grow Out Of Autism?

Currently, there is no evidence to support the idea that children can "grow out of" autism spectrum disorder (ASD). Autism is considered a lifelong neurodevelopmental condition that affects individuals across their lifespan. While children may show improvements in certain areas of development and may learn strategies to cope with challenges, the core characteristics of autism tend to persist into adulthood though symptoms may be noticeably less in some individuals. There are some individuals with autism who have exceptionally successful careers.

Early intervention and appropriate support can make a significant difference in the lives of individuals with autism. It is essential to recognize that each person with autism is unique, and their development and progress will vary. Some individuals may continue to need support throughout their lives, while others may develop skills that allow them to function more independently.

As research and understanding of autism continue to evolve, it is essential to focus on providing comprehensive and individualized support to individuals with autism to help them reach their full potential and improve their quality of life. [xv]

Can Autism Be Cured?

Currently, there is no known cure for autism spectrum disorder (ASD). Autism is considered a lifelong neurodevelopmental condition, and individuals with autism will continue to experience its characteristic features throughout their lives. However, early intervention and appropriate support can significantly improve the lives of individuals with autism. It’s worth noting that some of the Drake Institute’s ASD patients no longer meet diagnostic criteria as having ASD by the completion of their treatment.

Does Autism Get Worse With Age?

Autism spectrum disorder (ASD) is a lifelong condition, but it does not necessarily get worse with age for everyone. For some autistic individuals, challenges with social communication may persist in their adult lives. However, many individuals with autism can develop coping strategies, communication skills, and social abilities over time, which may lead to improvements in different areas.

For some individuals, the challenges associated with autism may become more manageable with age, especially with early intervention and appropriate support. Early diagnosis and access to therapies and interventions can make a significant difference in helping individuals with autism develop essential skills and adapt to various situations.

It's important to note that autism is a highly variable disorder, and each person's experiences and challenges may differ. Some individuals may continue to face significant difficulties with certain aspects of autism, while others may show considerable progress and increased independence, and even some individuals may develop very successful careers. [xvi]

How The Drake Institute Treats Autism

Over the last 40 years, the Drake Institute has clinically pioneered the use of advanced treatment technologies to treat a variety of brain-based medical disorders such as ADHD, Autism Spectrum Disorder, PTSD, anxiety, panic disorder, depression, insomnia, and more. Using a combination of brain map-guided neurofeedback and sometimes neurostimulation, our Medical Director creates customized treatment protocols to address each patient's needs.

Brain Mapping

To develop our individualized treatment plans, we first complete a qEEG brain map analysis for each patient. Brain mapping helps us identify which specific regions or networks of the brain are dysregulated linked to symptoms.

To collect this data, 19 sensors are placed around the scalp in areas of the brain responsible for language, focus, memory, executive functioning, social/emotional understanding and behavioral/emotional regulation. The 19 sensors measure and record brainwave activity that is processed through a normative database of neurotypical individuals.

When we compare the patient's results with those of neurotypical individuals, we can identify regions or networks of the brain that are dysregulated and causing symptoms. This information also allows us to determine how these areas are dysregulated so that we can develop specific treatment protocols that help improve brain functioning and reduce symptoms.

Neurofeedback

During neurofeedback training/treatment, sensors are once again placed on the scalp. The sensors record and display instantaneous brainwave activity visually in real-time on a computer screen with simultaneous auditory feedback as well.

During neurofeedback sessions, the patient is seeing the results of how their brain is working and with this information, they learn to improve their brainwave activity by guiding it toward healthier, more appropriately functional brainwave patterns.

We do not administer any drugs or perform invasive procedures during this process. Instead, the patient is improving their own brain functioning, guided by visual and auditory feedback.

Neurostimulation

As an adjunct to neurofeedback, we may also use neurostimulation guided by qEEG brain map findings to gently stimulate the brain into healthier functional patterns. In our experience, some patients may benefit even more from neurofeedback if we also use neurostimulation.

Contact The Drake Institute Today!

In the last forty years, Drake has helped thousands of patients with various disorders such as autism, ADHD, PTSD, anxiety, panic disorder, depression, insomnia, migraine headaches, irritable bowel syndrome, and hypertension reduce or resolve their symptoms and thereby achieve a better quality of life. Call us at 1-800-700-4233 or fill out the free consultation form to get started.

 

[i] https://www.cdc.gov/ncbddd/autism/signs.html

[ii] https://mthfrsupport.com.au/2017/01/link-between-mthfr-and-autism/

[iii] https://www.cdc.gov/ncbddd/autism/signs.html

[iv] https://www.autismspeaks.org/sensory-issues

[v] https://psychcentral.com/autism/levels-of-autism#level-1

[vi] https://psychcentral.com/autism/levels-of-autism#level-2

[vii] https://psychcentral.com/autism/levels-of-autism#level-3

[viii] https://www.cdc.gov/ncbddd/autism/signs.html

[ix] https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html

[x] https://www.mayoclinic.org/drugs-supplements-folate/art-20364625

[xi] https://www.hsph.harvard.edu/nutritionsource/folic-acid/

[xii] https://mthfrsupport.com.au/2017/01/link-between-mthfr-and-autism/

[xiii] https://tacanow.org/family-resources/cerebral-folate-deficiency/

[xiv] https://www.cdc.gov/ncbddd/autism/screening.html

[xv] https://psychcentral.com/autism/can-you-grow-out-of-autism

[xvi] https://www.spectrumnews.org/opinion/autism-features-may-be-more-severe-in-old-age/

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dr david velkoff headshot

“David F. Velkoff, M.D., our Medical Director and co-founder, supervises all evaluation procedures and treatment programs. He is recognized as a physician pioneer in using biofeedback, qEEG brain mapping, neurofeedback, and neuromodulation in the treatment of ADHD, Autism Spectrum Disorders, and stress related illnesses including anxiety, depression, insomnia, and high blood pressure. Dr. David Velkoff earned his Master’s degree in Psychology from the California State University at Los Angeles in 1975, and his Doctor of Medicine degree from Emory University School of Medicine in Atlanta in 1976. This was followed by Dr. Velkoff completing his internship in Obstetrics and Gynecology with an elective in Neurology at the University of California Medical Center in Irvine. He then shifted his specialty to Neurophysical Medicine and received his initial training in biofeedback/neurofeedback in Neurophysical Medicine from the leading doctors in the world in biofeedback at the renown Menninger Clinic in Topeka, Kansas. In 1980, he co-founded the Drake Institute of Neurophysical Medicine. Seeking to better understand the link between illness and the mind, Dr. Velkoff served as the clinical director of an international research study on psychoneuroimmunology with the UCLA School of Medicine, Department of Microbiology and Immunology, and the Pasteur Institute in Paris. This was a follow-up study to an earlier clinical collaborative effort with UCLA School of Medicine demonstrating how the Drake Institute's stress treatment resulted in improved immune functioning of natural killer cell activity. Dr. Velkoff served as one of the founding associate editors of the scientific publication, Journal of Neurotherapy. He has been an invited guest lecturer at Los Angeles Children's Hospital, UCLA, Cedars Sinai Medical Center-Thalians Mental Health Center, St. John's Hospital in Santa Monica, California, and CHADD. He has been a medical consultant in Neurophysical Medicine to CNN, National Geographic Channel, Discovery Channel, Univision, and PBS.”

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