Autism and MTHFR

Autism is a mental condition that develops in early childhood. A change in the way autism was diagnosed led to a huge increase in the number of children who were diagnosed with autism in the 1990s, and through the present time.

What is Autism?
Autism is defined as a developmental disorder that appears before a child is three years old. Symptoms include an inability to interact socially (doesn’t use body language, doesn’t develop friendships, difficulty empathizing, no interest in sharing feelings or interests with others), lack of communication (can’t or won’t talk, and doesn’t use mime, sign language or other alternatives to communicate) and specific behavior patterns (doing the same thing over and over again, needing everything in a specific routine, and others).

An autistic child is essentially locked inside a world of their own, and have difficulty interacting with the world and people around them.

There is no known cause of autism. Researchers believe that autism does not have a single cause, but that a wide variety of genetic and environmental factors may interact to cause autism. Autism does often run in families, and several genetic abnormalities have been found which may play a role in the development of autism.

What is the Connection between Autism and MTHFR?

At this point, almost the only thing we known about autism and MTHFR is that they are connected. No large scale studies have examined the connection, and many children with none of the MTHFR anomalies have developed autism. However MTHFR anomalies are far more common in children with autism than they are among children who do not have autism. Or put another way, research shows that children who have MTHFR 677 are more likely to develop autism.

There are several other things about the connection between autism and MTHFR that we don’t know for certain, but that research says are likely true.

MTHFR 1298 on its own does not seem to increase a child’s risk of developing autism. However, when a child has both MTHFR 677 and MTHFR 1298 anomalies, their risk of autism is much higher than in children who just have the 677 anomaly.

Autistic children frequently have low levels of the antioxidant glutathione and the protease cysteine. MTHFR anomalies cause low levels of these important biochemicals. It is possible that the low levels of these chemicals is one of the direct causes of autism, and that children with MTHFR anomalies are more likely to develop autism because they do not have enough glutathione and cysteine in their bodies.

Whether or not a mother has MTHFR 677 may impact her children’s risk of developing autism. One study found that a mother with MTHFR 677 who does not take folic acid during her pregnancy is more likely to have an autistic child. Mothers with MTHFR 677 who take folic acid during pregnancy don’t have a higher risk of their child developing autism, which is another good reason for pregnant women to regularly take folic acid.

Children with autism who have MTHFR anomalies function just as well as children with autism who don’t have MTHFR anomalies. This means the MTHFR anomalies don’t seem to make most autism symptoms worse.

There are four specific symptoms that MTHFR may make worse. Children with autism and an MTHFR anomaly may be more likely to have trouble meeting someone else’s eyes, engage in self-injury behaviors, be overactive, or make complicated movements with their whole body.

My Child has Autism/I have Autism, Should They Be Tested for MTHFR?
If you or your child has autism then you may want to arrange testing for MTHFR. Preliminary research suggests that folate treatment for autism may provide benefits, and that long term folate treatment can lead to clinical improvement. Knowing whether or not you have an MTHFR anomaly can help you determine what kind of folate supplement would work best. Getting tested will also make you aware of whether or not you are at risk for other health problems caused by MTHFR anomalies.

It also might be worthwhile to get tested for MTHFR if autism runs in your family.

I Have MTHFR 677, Will My Children Have Autism?
Many people have MTHFR anomalies and never develop autism. Researchers are still trying to understand what other risk factors for autism are and how and why they lead to autism. If your child inherits MTHFR 677 then they will have a higher risk of developing autism, but that does not necessarily mean that they will get autism.

There are a few things you can do to reduce the risk of your child developing autism. First, if you are a mother-to-be, make sure you take folic acid supplements throughout your pregnancy. Second, have your child tests for MTHFR anomalies as early as possible. If they have inherited MTHFR 677 or MTHFR 677/1298, then starting them on folate supplements, with a doctor’s supervision, may reduce their risk of developing autism.

Stillbirth and Early Spontaneous Abortion

Among the most heartbreaking results of the MTHFR anomaly is the increase in the risk of stillbirths and early spontaneous abortion.

What are stillbirth and early spontaneous abortion?
A stillbirth occurs when a baby dies of natural causes after the 20th week of pregnancy. Stillbirths may be caused by infections in the womb, placental rupture, chromosomal abnormalities or physical problems. Many times doctors cannot tell what causes a stillbirth. Early spontaneous abortion is medical-speak for a miscarriage. A miscarriage occurs when a baby dies before the 20th week of pregnancy. Most miscarriages occur in the first 12 weeks of pregnancy.

What is the connection between MTHFR and stillbirths or miscarriage?
Research is ongoing into why MTHFR increases the risk of stillbirths and miscarriages. With modern medicine and better prenatal care, stillbirths are becoming less and less common. In the United States less than 1 in 115 pregnancies will result in a stillbirth. Miscarriages are more common than stillbirths, but still happen less often than they did in the past.

With stillbirths and miscarriages becoming less common, it is rare for a woman to have more than one stillbirth and multiple miscarriages are not common. Doctors and researchers have looked for reasons why some women continue to have multiple miscarriages and stillbirths. They found one answer in MTHFR. Studies have found that the majority of women who have multiple miscarriages have at least one copy (and often 2 copies) of the 677 MTHFR anomaly.

I’ve had a miscarriage, should I get tested for MTHFR?
If you’ve only had one miscarriage, it was in the first trimester and you are generally healthy, you probably don’t need to worry about getting tested for MTHFR anomalies. If you have some of the other health problems that MTHFR causes, if you have had multiple miscarriages, or if you have a stillbirth and the doctors can’t tell why, you should probably talk with your doctor about getting tested for an MTHFR anomaly.

I have MTHFR, what can I do to prevent a miscarriage?
A recent study found that taking folic acid reduced the risk of miscarriage for women who have MTHFR anomalies. You might also try eating foods like leafy vegetables that are naturally high in folate nutrients.