Note: I am not a medical doctor, and neither this or any other blog can provide you with medical advice. If you believe you or your child has an issue with folate, please don't attempt to fix it yourself. The right type and the right dose of folonic acid matter. Please contact your health care provider.
Folate, a B vitamin crucial for brain development and function, plays an important role in both Autistic children and adults. Research has shown a link between folate metabolism issues and Autism, particularly in children. However, understanding its impact across all ages can be key to improving cognitive function and reducing neurological symptoms.
Folate Receptor Alpha Autoantibodies in Children with Autism
One of the most significant findings in recent years is the discovery of folate receptor alpha (FRα) autoantibodies in 58%-76% of Autistic children. These autoantibodies interfere with the brain’s ability to absorb folate by attacking the folate receptor, a protein responsible for transporting folate into the brain.
Low folate in the brain, known as cerebral folate deficiency (CFD), can result in a range of symptoms and severities. Some of the symptoms can mimic Autism or other related conditions. They include the following but note that not all symptoms will be present for each child.
Cognitive and Behavioral Symptoms:
Cognitive delays: Learning difficulties, slower intellectual development, or intellectual disability.
Speech delay: Difficulty with language development or loss of verbal skills.
Physical Symptoms:
Irritability or mood changes: Increased agitation, irritability, or emotional instability.
Feeding difficulties: Problems with sucking, swallowing, or eating, which may be present in infancy.
Sleep disturbances: Trouble falling asleep, staying asleep, or irregular sleep patterns.
Failure to thrive: Poor growth and weight gain in infants and young children.
Visual or hearing impairment: Impaired vision or hearing, often due to optic or auditory nerve dysfunction.
Neurological Symptoms:
Developmental regression: Loss of previously acquired skills, such as speech, motor abilities, or social interaction.
Seizures or epilepsy: Seizure activity, often resistant to typical treatments.
Ataxia: Difficulty with balance and coordination, leading to unsteady walking.
Hypotonia: Low muscle tone, causing muscle weakness or floppy limbs.
Movement disorders: Abnormal involuntary movements such as tremors, dystonia (muscle contractions), or chorea (jerky, dance-like movements).Other Signs:
Microcephaly: A smaller than average head size.
Spasticity: Stiff or rigid muscles.
Autonomic dysfunction: Problems with automatic bodily functions, such as abnormal sweating, heart rate issues, or temperature regulation.
Autistic features: Increased social withdrawal, communication difficulties, or repetitive behaviors. Some children with CFD may exhibit symptoms of Autism and may not actually be Autistic. This could explain some cases where children are thought to be "recovered" from Autism but may actually have a folate issue and not Autism.
To clarify, folate deficiency does not cause Autism and treating it does not cure Autism, but treating a folate deficiency in a non-Autistic child could relieve some symptoms that mimic Autism and treating folate deficiency in Autistic children and adults can relieve some other symptoms that may sometimes be mistakenly seen as a more "severe" presentation of Autism.
Studies have shown that the levels of FRα autoantibodies in the blood often correlate with folate levels in the cerebrospinal fluid (CSF), meaning that children with high levels of FRα autoantibodies typically have lower folate levels in the brain. Treating CFD with folinic acid, a form of folate that bypasses the affected receptors, has shown promising results in some children, leading to improvements in language, cognition, and behavior.
What About Adults?
While pretty much all of the research on the topic focuses on children, folate issues can affect autistic adults as well. Folate deficiency may persist into adulthood, manifesting as chronic fatigue, cognitive difficulties, sensory sensitivities, mood swings, or even neurological symptoms like tingling in the extremities. Although fewer studies have been conducted on adults, those experiencing these symptoms should consider discussing folate levels with their healthcare provider, especially if they have a known history of metabolic or genetic conditions like MTHFR mutations.
Key Symptoms to Watch For
Both Autistic children and adults should be on the lookout for potential signs of folate deficiency, such as:
Fatigue or brain fog
Mood changes (irritability, depression, or anxiety)
Sensory sensitivities
Neurological issues (tingling, numbness, or migraines)
Sleep disturbances
Mouth sores or digestive issues
Testing for folate receptor autoantibodies or genetic markers can help identify if folate-related issues are contributing to symptoms. Treatment options, such as folinic acid or possibly L-methylfolate, can provide relief by bypassing absorption barriers caused by autoantibodies or genetic mutations.
Conclusion
Folate deficiency, particularly due to FRα autoantibodies, can significantly impact the lives of Autistic individuals, and no one is talking about it. While much of the research has been on children, adults should also remain vigilant about symptoms and seek appropriate testing and treatment. Addressing folate deficiency could be a key factor in improving well-being for both Autistic children and adults.
Resources
Folate receptor alpha autoantibodies in autism:
Research has shown a high prevalence of folate receptor alpha autoantibodies in children with autism, leading to cerebral folate deficiency. Key studies like those by Dr. Richard Frye have contributed to our understanding of the impact of these autoantibodies on neurological and cognitive functions in children with ASD.
Source: Frye, R. E., et al. (2013). Folate receptor alpha autoimmunity and cerebral folate deficiency in autism spectrum disorders. Journal of Pediatric Neurology, 10(1), 1-8.
Frye, R. E., Rossignol, D. A., Scahill, L., McDougle, C. J., Huberman, H., & Quadros, E. V. (2020). Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder. Seminars in pediatric neurology, 35, 100835. https://doi.org/10.1016/j.spen.2020.100835
Folinic acid treatment in autism:
Several studies have explored the benefits of folinic acid supplementation for children with ASD who have folate receptor autoantibodies, showing improvements in language, cognition, and behavior in some cases.
Source: Frye, R. E., et al. (2018). Folinic acid improves verbal communication in children with autism and language impairment: A randomized double-blind placebo-controlled trial. Molecular Psychiatry, 23(2), 247-256.
Folate metabolism and MTHFR mutations:
MTHFR (methylenetetrahydrofolate reductase) mutations are known to affect folate metabolism, which can lead to neurodevelopmental and neurological issues in individuals with ASD, as well as those without autism.
Source: Morris, M. S., et al. (2010). Folate and neurological function: A review of human studies. Advances in Nutrition, 1(2), 152-158.
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