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Cerebral Folate Deficiency: Symptoms, Causes, Diagnosis, Treatment and Cure

Trained in dentistry, Sree is currently pursuing lab sciences. She loves researching and sharing information on various health topics.

What Is Cerebral Folate Deficiency (CFD)?
Also known as Cerebral Folate Transport Deficiency or FOLR1 Deficiency, this particular condition is linked to autism and is under consistent study by the medical field in an effort to prevent cases of autism.

The condition is characterized by a deficiency in the vitamin B9 or B-vitamin folate in the brain. The problem usually results not from lack of folate in the body but rather, from deficiency of transportation of the vitamin. For some reason, those who suffer from Cerebral Folate Deficiency have a problem absorbing the vitamin as it attempts to go through the brain-blood barrier.

What Causes Cerebral Folate Deficiency?
Genetics is the primary theory surrounding CFD. It is posited that those who suffer from CFD have had a history of the same condition in their family tree. It's also been theorized that CFD largely relies on environmental factors of both the child and the parents. Parents exposed to certain chemicals may have had altered genetics that influence their reproductive system – thus causing CFD to occur in their children.

Note however, that the exact and verified cause of CFD is still unknown. Verification as to CFD and whether or not it is the root cause of autism is still not forthcoming. What is established however, is that most autistic children also suffer from Cerebral Folate Deficiency or low concentrations of folate in their body. Studies are being conducted to verify this finding as autistic children are provided with high doses of folate to see any improvements in their symptoms.

Signs of CFD
The condition presents itself early on, usually before the child reaches 2 years of age. Development is fairly normal from birth until 2 years of age – but after this time, parents would start to notice marked differences with their child. Usually, a child with Cerebral Folate Deficiency would halt in development upon reaching the age of 2 and would stay more or less within that level for the rest of their life. Some signs and symptoms that mark CFD include, but are not limited to the following:

  • Psychomotor regression or the loss of previously acquired movement capacity. This may include tremors and the inability to coordinate their movements. Children with CFD often need assistance with basic tasks such as eating because their motor abilities become erratic and lose the steady precision required by the activity.
  • Some individuals may require wheelchair assistance overtime since the condition extends to the leg muscles.
  • Speech difficulties are also a common problem as children with CFD have a steep learning curve, requiring more effort to speak, understand, and learn new words. Stuttering is a frequent issue as well as the limited vocabulary.
  • Intellectual disabilities are perhaps the most marked sign of CFD.
  • There is also a marked presence of Leukodystrophy, which is a condition wherein the white matter of the brain is reduced in number.

CFD and Autism
CFD and autism are not synonymous with each other. However, it is undeniable that more than 75% of children diagnosed with autism suffer from Cerebral Folate Deficiency. It is therefore a common theory that CFD is one of the primary causes of autism in children, especially since the symptoms are remarkably similar with each other. As far as this article is concerned, CFD and autism will be used interchangeably.

Cerebral Folate Deficiency: Symptoms, Causes, Diagnosis, Treatment and Cure

Cerebral Folate Deficiency: Symptoms, Causes, Diagnosis, Treatment and Cure

How Is Cerebral Folate Deficiency Diagnosed?

CFD Diagnosis is done through a physical check followed by more intensive tests to determine the presence of folic acid in the brain. These tests may include a scan so that doctors will be able to see brain matter and distinguish whether certain materials are lacking or deficient in the brain.

Role of Parents: It is typically the parents who first notice when something is different about their children. It could be in the form of slow mental development, slow physical growth, something slightly wrong with the child's physical formation, and various other issues. Parents should have a pretty good idea how the normal development of a child progresses and from there, be curious enough to bring the child to the doctor. Some signs that parents should bear in mind include failure to make eye contact, not responding to his/her name, or unusual and repetitive actions.

Frequent Checkups: New parents are often asked to bring their newborn to the doctor on a routine basis up until 36 months of age. The purpose of this is for the doctor to check for developmental milestones.

Professional Autism Diagnosis: CFD in itself can be diagnosed through a scan. However, since autism is the most common result of CFD, it makes sense that many professionals check for autistic behavior in the child. Typically, the diagnosis is done by utilizing a checklist which contains positive signs that a child could be suffering from autism. Parents may also be asked to fill in the Modified Checklist Autism in Toddlers.

Typical Diagnosis Procedure: Diagnosis often involves a team rather than just one person. This includes a pediatrician, psychologist, occupational therapist and a speech and language pathologist. It can also involve genetic testing and further examinations to determine issues often related to autism.

DSM-V: DSM-V is also undergoing changes that will create a whole new definition for autism and therefore may change the diagnosis procedure of the condition.

Essentially, there are three hallmarks of autism when it comes to symptoms: problems with communication, repetitive behavior, and social challenges. There are currently methods being used to address all these issues, but none have been found to provide the absolute cure. In many cases, a combination of strategies is used to produce significant improvement.

CFD Treatment and Cure

Treatment for children diagnosed with Cerebral Folate Deficiency is a combination of medication as well as palliative care. Such treatments may vary, depending on the age of the child.

Toddlers and Preschoolers
Upon diagnosis of CFD-led autism, toddlers and preschoolers may be prescribed certain medications, typically those that contain folic acid. Early intervention increases the chance of further brain development so that the child will be able to get past the usual stumbling blocks of autism. Although early intervention may not completely cure autism, it can significantly improve the standing of the child. Palliative care includes:

  • Structured and therapeutic activities lasting as little as 25 hours every week
  • Intervention of therapists, teachers, or other professionals when it comes to autism
  • Training and engagement of parents in activities, behavior, and daily schedules that will encourage development in the child even as it adjusts to the specific needs of the condition
  • Time and opportunity for the child to play and socialize with typically growing peers
  • Intervention techniques taught to parents so that they'd have a fairly good idea how to handle and work with their children

Teens and Adults: Over the years, there have been positive outcomes with regards to children diagnosed with autism. Such children grew up to be ‘off the spectrum' in that they no longer fall under the medically accepted definition of autism,although this doesn't always mean that they've fallen within the range of normal. This allows them to live a better quality of life with lesser supervision from guardians and more opportunity for exposure with their peers.

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Best outcome situations are also not unheard of. In these cases, children previously diagnosed with autism manage to grow into adults within the normal range when it comes to mental development, speech patterns, and physical capacity. The exact reasons why this happens however, is still unknown.

As of this writing, there is no known solid cure for CFD. There have been studies wherein children with known CFD are given high doses of processed folic acid which allows for easy absorption of the body. When administered early on, it has been shown to help the developmental capacity of the child. Children undergoing the treatment start to have marked improvements with their speech patterns, their mental acuity, and their physical abilities. However, such studies are still ongoing and not 100% ideal for curing CFD-caused autism. It's also important to note that not all autistic children are found with CFD. Only around 75% of autistic children suffer from cerebral folate transmission deficiency.

Bipolar Disorder, Autism, Sleep and Anxiety Disorders

Bipolar Disorder, Autism, Sleep and Anxiety Disorders

Medications Used

Medications for autism vary depending on the special needs of the child. As previously mentioned, the introduction of folate in capsule format is just one type of medicine being used today. Others that are equally popular include, but are not limited to:

SSRIs or Selective Serotonin Re-Uptake Inhibitors: There are several classes of SSRIs on the market today, so it's usually left up to the doctor to choose which one is best for your child. The beauty of this is that should one SSRI fail to provide the expected results, there are lots more that can be used. They mainly target symptoms related with the child's ability to socialize with other people. Even as they're made available, there are still clinical trials being conducted on SSRIs to ascertain the real extent of the help they provide. On the plus side, there have been reports on the positive effects of SSRI on their children. The main issue with SSRIs is that it can be tough to determine the perfect dosage to get the results you want. SSRIs are primarily targeted towards anxiety and depression symptoms.

Naltrexone: This particular medicine is used to inhibit repetitive behavior in children with autism. It is approved by the FDA, specifically to help with the treatment of opioid and alcohol addiction. However, it has been shown to provide improvements for those with autism.

Antipsychotic Medications: Antipsychotic medications are utilized for behavioral problems with the special needs child. Specifically, it manages to reduce the activity in the brain, thereby limiting the instances of aggression. Note though that there are several types of antipsychotic medications available today. While some only provide so much, there are others with side effects including sedation, abnormal movements, and even stiffness of the muscles.

Associated Psychiatric and Medical Conditions: It's not surprising for children with autism to be diagnosed with associated psychiatric conditions. Typically, such psychiatric conditions stem from the unique characteristics of autism with Cerebral Folate Deficiency as the underlying cause. Although some parents may lump these associated psychiatric conditions together with autism, it's actually a good idea to identify the ‘branches' that stem from the common problem. By doing so, it becomes easier for professionals to handle each symptom as they come.

ADHD or Attention Deficit and Hyperactivity Disorder: ADHD can be a trial in itself and when combined with autism, it can be quite a challenge for parents. The condition is characterized by difficulties paying attention, excessive activity, and behavioral problems that may be inappropriate given the age of the individual. ADHD is treated by a combination of selected medications and behavioral therapy. Medications often involve stimulants which would help the child better cope with the symptoms of the condition.

Anxiety Disorders: Anxiety disorders are also fairly common in children who have autism. The anxiety itself can vary from one person to another as some children might show an aversion to being with other people, spiders, baths, separation anxiety, panic disorder and more. Typically, anxiety disorders in people with autism are approached through behavioral therapy.

Sleep Disorders: Children diagnosed with autism also have a harder time sleeping. It may take them a long time to fall asleep at night or wake up extremely early in the morning. This makes the child less effective in the daytime. Although some parents may argue that sleeping is always a problem with children, it must be noted that those who have sleep disorders take this to the extreme as there are instances of waking up several times through the night.

Parents can help handle this problem by establishing a sleeping routine for the child. How the parent handles midnight waking or pre-dawn waking is also important as it helps set the tone for the following nights. It's also a good idea to impose rules that could affect a child's sleeping patterns. For example, turning off tablets and computers an hour before bedtime would help foster sleep.

Bipolar Disorder

Characterized by episodes of hyperactivity followed by depression, bipolar disorder was once called manic-depression. For those who have autism, bipolar disorder normally becomes evident through rapid, loud, and nonstop talking, irritability, impulsiveness, pacing, and insomnia. Depression may not actually be part of the symptoms as those who suffer from this condition veer quickly from ‘normal' periods to ‘manic' moments. Note though that there are opinions regarding over-diagnosis of bipolar disorder when it comes to autistic patients.

Note that the associated conditions given above aren't always there and don't always come together. An autistic child may have ADHD, but without anxiety or vice versa. Other conditions that could be associated with Cerebral Folate Deficiency include seizures, depression, obsessive compulsive disorder, and gastrointestinal disorder.

Complementary Approaches
These approaches are discovered to have a complementary effect on children with autism. Hence, they're best added into the typical treatment routine in order to improve results:

  • Omega 3 - fatty acids – known for their numerous benefits to the body, omega-3 fatty acids have been shown to help with ADHD, specifically with the hyperactivity symptoms of the child.
  • Folate – as already mentioned, the introduction of folate in children with autism can help bridge the gap when it comes to folate transmission deficiency.
  • Melatonin – associated with sleep, melatonin helps regulate the sleep cycle and should be able to help children with sleep disorder to have sufficient hours for rest. Note that before administering this to children, it's best to first consult your doctor.
  • Gluten and casein-free diet – although this is still not completely verified, some parents have experienced improvement on their children once they've eliminated gluten and casein in their diet. Considering how children with autism are more likely to suffer from food allergies, this is a move that bears trying.

Risks with Pregnant Women
With every parent wishing for a healthy child, it's not surprising that soon-to-be parents are highly invested in knowing what should be done in order to have healthy babies. This is especially true for parents with a family history of Cerebral Folate Deficiency caused autism.

Today, it has been noted that taking folate DOES NOT help prevent autism. Folic acid in its basic form often included in prenatal vitamins will not ensure that autism can be avoided. This is largely due to the fact that pregnant mothers cannot break down the folic acid themselves. Hence, it's usually a good idea to take prenatal vitamins containing an altered type of folic acid that makes it easier to break down and absorb. For a better understanding of what kind of prenatal vitamins to take, pregnant women are advised to inform their doctors of their genetic history, especially if autism is marked in the family.

It can be tough to have a child in the family who is diagnosed with Cerebral Folate Deficiency and subsequent autism. Numerous adjustments must be made as you make your home and lifestyle friendlier for this new development. There is hope though, and when intervention is done early enough; parents will be able to notice marked improvements that will make the process easier as time goes on. Following are some tips for parents:

Learn about the Condition: It's important that you take the time to learn more about the condition so that you'll be in a better position to make adjustments to your life. Understanding more about CFD and autism would help prepare you for any eventualities. Meet with practitioners and professionals who can help guide and educate you about the condition.

Talk with Your Spouse: Talk to your spouse about the special needs of your child so that you'll be able to tackle the challenges better. Having a child with special needs is not only a toll for the parent-child relationship but also for the parent-parent relationship. It is not unheard of for parents to separate ways due to the stress of having a child with special needs. Hence, take the time to talk with each other as well as other parents who are in the same situation. This should make it easier for you and your partner to handle the future.

Educate Brothers and Sisters: Make sure that the brothers and sisters of your child with special needs understand the situation and adjust reasonably. Although it can't be expected of a child to completely understand the difficulties, this will at the very least, allow them to be conscious of the situation so that they won't feel terribly isolated or rejected in the family.

Have a Break Once in a While: It's perfectly OK to have a break once in a while. Caring for children with special needs can be quite exhausting and parents who do not seek a reprieve once in a while might find themselves breaking at some point. Assign a specific day as your refresher and hire the services of a professional to help with the child on that day. If you can well afford it, having someone to help you full time would be an excellent idea.

Some Autism Resources to Check Out
Following are some autism resources you should know about. Depending on your current location, you should be able to find organizations dedicated towards this particular cause:


Association for Science in Autism Treatment (ASAT)

a non-profit organization comprised of parents and professionals for improving treatment, care, and education on autism

Autism Research Institute

Dedicated towards developing better ways of diagnosing and treating autism

Autism Society of America

Dedicated towards improving the lives of people who are affected by autism through public awareness, treatment, and education

First Signs

Concerned with the early diagnosis and treatment of autism to give parents and patients better chances on how to cope with the condition

Autism National Committee

A non-profit organization which focuses on "Social Justice for All Citizens with Autism

Facts About Children with Autism

Kids diagnosed with autism are:

• 1.6 times more likely to have skin allergies

• 2.2 times more likely to have severe headaches

• 1.8 times more likely to have food allergies

• 3.5 times more likely to suffer from chronic diarrhea

Test your reading!


Kim Maravich from Pennsylvania on August 27, 2016:

This is a fascinating and well written article. It really contains some ground breaking material. I wonder whether an MTHFR gene mutation in either the mom or child might be related? I have an MTHFR mutation and needed to be sure to supplement with folate (not folic acid) while pregnant. Thanks for your article!

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