Autism

*The information on this website is not intended to diagnose, treat, cure or prevent any disease.

What is Autism?

Autism is a disorder of mental development and is now considered part of a “spectrum disorder,” meaning that there is a range of severity, symptoms and traits which are linked to autism; previously, there have been specific names for different manifestations of the disorder (such as Asperger’s syndrome), but the American Psychiatric Association has eliminated these sub-diagnoses and Autism Spectrum Disorder is now the preferred nomenclature. Generally, autism affects the ability to carry on normal social interactions and causes repetitive, stereotypical behavior. Signs are usually first noticed in children during the first several years of life. Boys are at a much higher risk than girls.

Autism appears to be on the rise in the developed world, with approximately 1.5% of children being diagnosed in 2017. In 2000, the rate of diagnoses was 0.7%. There has been a huge increase in the amount of autism cases diagnosed in the last 50 years. Part of this increase is likely due to changes in the way the disease is diagnosed, increased awareness, and better surveillance. Although the frequency with which autism occurs is on the rise, the specific rate it is increasing is more difficult to determine due to better diagnostics practices which are less likely to result in cases going undiagnosed.

The manifestation of autism can vary widely. In some individuals, it can be a highly debilitating condition, limiting the ability to carry out pursuits like careers and relationships. Many children with autism are never able to live independently. In other individuals, the impact can be much less severe and they are able to function very well in the workplace. Social interactions and nuances generally prove challenging for most people with autism. Many people with autism also demonstrate high-intellect, and occasionally they may have unusual abilities (called splinter skills). Examples of these splinter skills may include strong mathematical or memory abilities. Others with autism may have intellectual disabilities, which may make them more likely to engage in destructive or aggressive behavior.

Autism and related disorders on the autism spectrum are generally poorly understood diseases, with many hotly debated causes. Although most people with autism will live with the disorder their entire lives after it manifests, some people have apparently recovered from the disorder. There has been no identified pattern or treatment which results in resolution of the disease.

Common Symptoms

The major early symptoms of autism are social development abnormalities. These can be subtle. Sometimes, the signs can manifest suddenly. Common symptoms in children include:

Lack of eye contact
Not responding to names
Not responding to parents/family members/caregivers
Avoidance of physical contact
Delayed onset of speech or absence of speech
Inability to maintain conversation
Repetitive use of words/phrases without context or meaning behind them
Does not recognize visual cues/body language during communication
Does not point out objects
Does not express emotions
Difficulty understanding simple questions
Difficulty following simple directions
Repetitive physical behavior (hand flapping, rocking, etc.)
Self-harm behaviors (biting self, hitting, banging head)
Extreme adherence to routines or rituals
Hypersensitivity to light, sound, touch
Will only eat specific foods

Diagnosis

Routine wellness exams with a pediatrician are important for identifying signs of autism early on. Concerns signs such as inappropriate social interactions, delayed speech, or symptoms listed above warrant referral to a specialist for further evaluation as diagnosis can be difficult. Generally, there are no laboratory tests to determine if a child has autism, however genetic testing can be performed to exclude other conditions which can appear similar to autism. The major diagnostic approach will rely on gathering information from the child’s caregivers and then interacting with the child themselves. Tests administered include:

Speech
Hearing
Developmental
Social behavior

Criteria used to diagnose autism are listed in the American Psychiatric Association Diagnostic (APA) and Statistical Manual of Mental Disorders, 5th edition (DSM-5). These criteria as listed by the APA include meeting all of the following characteristics:

Problems reciprocating social or emotional interaction, including difficulty establishing or maintaining back-and-forth conversations and interactions, inability to initiate an interaction, and problems with shared attention or sharing of emotions and interests with others.
Severe problems maintaining relationships — ranges from lack of interest in other people to difficulties in pretend play and engaging in age-appropriate social activities, and problems adjusting to different social expectations.
Nonverbal communication problems such as abnormal eye contact, posture, facial expressions, tone of voice and gestures, as well as an inability to understand these.

As well as meeting at least two of the following four behavioral traits:

Stereotyped or repetitive speech, motor movements or use of objects.
Excessive adherence to routines, ritualized patters of verbal or nonverbal behavior, or excessive resistance to change.
Highly restricted interests that are abnormal in intensity or focus.
Hyper or hypo reactivity to sensory input or unusual interest in sensory aspects of the environment.

Treatment Options

There is no known cure for autism, however some children seem to recover spontaneously. Recovery has been reported both with and without intensive therapies/treatments.

Pharmaceuticals and Medical Procedures: There have been no medications identified which have been shown to improve symptoms of autism, however many autistic children may have additional health or behavioral issues which may be aided with medical therapy

Anti-depressant medications: These medications can be helpful for autistic children who develop high levels of anxiety or depression, which is relatively common. Selective serotonin reuptake inhibitors (SSRIs), selective norepinephrine reuptake inhibitors (SNRIs), tricyclic anti-depressants (TCAs), and atypical antidepressants may be used. For situational anxiety, short-acting anxiolytics such as benzodiazepines may be considered.
Anti-psychotic medications: Drugs like risperidone, haloperidol, and aripiprazole are sometimes prescribed in children with severe behavioral issues like aggression, self-harm, or destructive behaviors. If possible, these should be considered a last resort after behavior therapies have been attempted.
ADHD Medications: Some children display hyperactivity and may benefit from treatment with ADHD medications such as Adderall or Ritalin. This should be weighed against behavior therapy or used in combination with behavior therapy.
Antimicrobial Medications: These may be indicated if infectious agents such as Lyme disease are suspected to be involved in the development of autistic symptoms.

Non-pharmaceutical and Alternative Therapies:

The vast majority of approaches to autism will involve various types of behavioral, speech, and language therapies designed to help improve communication and social functioning. The benefits of therapy tend to correlate with intellectual abilities.

Special Education Programs: These are important, and should be staffed by individuals with training in managing children with autism. Early programs designed for children with autism can improve the odds of improved social function and independence later in life.
Communication Therapy: Focused communication training can help children with autism learn to communicate more effectively with others.
Behavioral Therapy: This is aimed at reducing negative behaviors as well as teaching new skill sets. Positive reinforcement through reward-based training is most effective.
Family Therapy: Teaching family members and caregivers how to respond and interact with their children can improve long term quality of life for everyone in the household.
Physical Therapy: Many children with autism may be susceptible to injuries or have muscle weakness. Focused physical therapy can reduce the chance of injury, promote physical development, and can provide an outlet for unfocused energy.
Animal/Pet Therapy: Many children with autism respond well to animal companionship. A famous example of an autistic person who gravitated towards interactions with animals (and later applied herself to revolutionizing food animal handling and well-fare) is veterinarian Temple Grandin.
Sensory Therapy: There is some thought that specific stimulation of senses such as touch and hearing may help alleviate some symptoms of this disorder or decrease the hypersensitivity symptoms some children with autism experience.
Art Therapy: Art or music can provide a creative outlet for autistic children, teenagers, and adults. Many may find artistic expression easier than communication with other individuals.
Deep Pressure Massage: This may improve relaxation in some people with autism.
Dietary Modifications: There is some evidence that children with autism and gluten-sensitivity show improvement of symptoms when put on a gluten-free diet. Other children do not show much response. If trying special diets, ensure to consult with a pediatric nutritionist to make sure that you are not causing nutritional deficiencies, which can easily occur in growing children. Eliminating soy and casein (milk protein) also seems to be helpful for many children. You may also consider specific diet plans like the GAPS diet.
Probiotics: Probiotics can help maintain a healthy GI tract and the bacteria living in the intestines create substances which can function as neurotransmitters. Although there is no evidence that probiotics directly help signs of autism, they may be helpful in reducing concomitant psychologic issues such as depression or anxiety.
Acupuncture: Some children and adults may benefit from acupuncture through reduction in stress and anxiety. Results are highly variable.
Chelation Therapy: This may be tried in the event that heavy metal is suspected to be related to the symptoms. This should only be done with expert supervision; improperly performed chelation therapy can be extremely dangerous.
Epsom Salt Baths: These mineral baths are inexpensive, relaxing, and can help the body absorb magnesium, which may aid in restful sleep.
Hyperbaric Oxygen Therapy: This seems to increase the oxygen content of blood, which may help with general neurologic function.
Hydrotherapy: Mineral baths or Epsom-salt baths seem to be helpful in the management of symptoms by decreasing stiffness of joints and improving blood flow.
Medical Marijuana: This option may help control behavioral and mood issues in people with autism.
Mold Binders: Products like cholestyramine and apple pectin can help remove toxic mold from the body. Mold toxins may be an occult contributor to autism in some cases.
Stem Cells: This is an active area of research and some clinical trials are underway assessing the utility of stem cells in treatment of autism.
Supplements:
- Fish Oil: Some studies have found improvements in behavioral issues in children with autism who are supplemented EPA and DHA omega-3 fatty acids.
- Melatonin: Sleep disorders are common in children with autism. Melatonin can help lead to improved sleep and regulation of sleep-wake cycles.
- Essential Minerals and Vitamins: Children with autism often don’t eat a diverse diet and may be surprisingly deficient in common trace minerals:
  - Calcium
  - Zinc
  - Magnesium
  - Selenium
  - Vitamin A, C, D and E
  - Vitamin B12
- Taurine: This amino acid can help improve cognitive function and provide a calming effect
- L-Carnitine: There is some evidence that L-carnitine supplementation can improve communication, anxiety, and social functioning in children with autism.
- Quercetin: This is an anti-inflammatory flavonoid which may decrease neuroinflammation, which may contribute to autism.
- Pycnogenol: Like quercetin, this is a plant-derived anti-inflammatory compound which may hep reduce inflammation in the central nervous system.
- L-Glutathione/N-acetylcysteine (NAC): Supplementation with one or the other of these compounds can help increase levels of glutathione in the body, which is important for antioxidant properties. One study found decreased irritability in children supplement with NAC.

Prevention

Because autism is so poorly understood, there is no proven way to prevent it from developing in children. Your best approaches to preventing autism will be to live a healthy lifestyle both before, during, and after having a child. There are various environmental factors which affect the activation or deactivation of genes even before they are passed down to children in the egg and sperm. These factors, termed epigenetic factors, occur outside the genome but have a major role in how development eventually unfolds in a child.

For both men and women, try and limit exposures to industrial chemicals, pesticides, and herbicides, as these environmental toxins may have a role to play. Use products which do not contain BPA, and avoid ingesting fish from areas may have high mercury content. For pregnant women, making sure you are eating a healthy, varied diet rich in omega-3 fatty acids and obtaining all the important pre-natal vitamins (such as folic acid) is extremely important. Avoid the use of drugs, tobacco, and alcohol during pregnancy. Double-check prescription medications with doctors before continuing once you find out you are pregnant, and if necessary, switch to medications which have been shown to be safe for developing fetuses.

There is an association between German measles (rubella) and autism. Although this cause of autism is rare, it is one to be cognizant of. Pregnant women should take care to avoid sick people, wash their hands frequently, and carry hand sanitizer.

Causes

The cause of autism is an active area of research. There is likely a multitude of causes, and it is possible that common symptoms of autism are a result of disturbances of multiple different pathways in the brain which occurs sometime during development. There are likely genetic influences for autism, however specific genes have yet to be identified. If there are genetic risk factors, they likely must occur in combination with epigenetic or environmental risk factors. Chemicals in the environment have been linked to autism, including pesticides and herbicides. Household products may also play a part; a class of chemicals called phthalates which are found in cleaning products, cosmetics, and personal care items such as shampoos and shaving creams have also been implicated. People, and especially women, who work in professions which result in high phthalate exposure may be at unusually high risk of having children who eventually develop autism. Phthalates belong to a class of chemicals which function as endocrine disruptors, and there are many more chemicals which can have a similar spectrum of activity which require further research. The idea that endocrine disruptors play a part is further supported by the fact that many boys with autism have underdeveloped testicles, suggestive of interference in testosterone or excessive estrogen-based signaling. Some of these endocrine-disrupting chemicals are even found in certain medications.

Finally, there has been continued speculation about the relationship between vaccines and autism, specifically vaccines which contain an adjuvant (an ingredient designed to stimulate a more robust immune response) such as aluminum or thiomersal. The vaccine-autism link has been very muddled since a shocking paper in 1998 published in the highly-regarded medical journal The Lancet. The original research paper, which showed a link between the measles-mumps-rubella (MMR) vaccine, has since been retracted after a journalistic investigation found the original authors were found to have misrepresented and inappropriately selected and falsified their data, performed biased statistical analysis and committed serious ethical violations in the conduct of their research and were motivated by financial gain. Two subsequent studies (here and here), designed to overcome the problems in the original study, have been performed which have failed to replicate the original findings. It is an ongoing area of controversy for autism advocates. The decision to vaccinate is best left to the parents after discussion with medical professionals about the risks and potential harms for vaccination.

There is at least once infectious cause of autism which has been identified. German measles (also called rubella) is a known cause of autism, although the number of cases of autism caused by this condition overall is probably less than 1%. Still, in parts of the world where rubella is common, this may be a major contributor to new autism cases. Infection in utero appears to be the major risk factor, rather than infection after birth. Other infections agents may also contribute to the development of autism. Suspected viruses which may play a role include herpes simplex virus type 2 (HSV-2) which targets nervous tissue, and may infect a developing fetus. Other infections may not necessarily target a developing fetus directly, but they may cause active inflammation in the pregnant mother. Inflammatory signals called cytokines cross the placenta and can have a huge influence on activation and deactivation of different genes during key moments of development. Influenza virus also appears to play a role in increased risk of autism.

There is also speculation that some cases of autism are due to infection with the tick-borne bacterial Borrelia burgdorferi, which is the causative agent of Lyme disease. This bacterium is known to infect many different places in the body, including the central nervous system. It is possible a pregnant mother unknowingly infected with Lyme disease could transmit the bacteria to her child, or the child may later pick up the disease naturally through exposure to ticks.

Some cases of autism may be related to intestinal parasites. The relationship between intestinal parasites and autism is unclear, but some parents note improvement in the symptoms of autism after treatment for parasites. Screening for intestinal parasites is generally simple to do and may be worth considering in children with autism. Other parasites such as toxoplasmosis may be more difficult to detect, but can sometimes be detected on bloodwork which detects antibodies against the parasite, although this only represents past exposure to the parasite, and does not necessarily indicate active infection.

Heavy metal exposure, whether in utero or as a growing infant, may also play a role. Heavy metals tend to accumulate in the central nervous system, and children are especially sensitive to the toxic effects. Heavy metals can be found in municipal water sources, fish obtained from contaminated regions, or even produce which is grown near industrial areas or highways.

Toxic mold exposure is another possible cause. Mold toxins are highly inflammatory, and there is thought to be a link between neuroinflammation and autism. This could occur in utero through the mother’s exposure to toxic mold, or after birth, especially if the child spends large amounts of time in a contaminated environment. Ensuring your environment and the baby’s environment is as clean as possible is important for decreasing exposure to these destructive toxins.

There have been many agents cited as possible causes of autism, including plastics, drugs (legal and illegal), fetal alcohol exposure, flame retardants (which are common on household furniture), and vaccines, specifically those which contain thiomersal.

Some cases of autism may be related to health conditions in the mother, including low thyroid levels, lack of iodine, or diabetes. Some women experience a temporary diabetic state called gestational diabetes, which seems to double to risk for the development of autism in the unborn child. There is also evidence that external stress to the mother could increase the risk of diabetes. Stress induces the release of the steroid hormone cortisol, which has a huge impact on various systems in the body. Certain medications take by mothers such as anti-depressants may also increase the risk.

There are even more proposed causes which occur after birth. These include autoimmune dysfunction in the developing brain. This theory speculates that the infant’s own immune system becomes activated against certain proteins/neurons in the brain, leading to cell death and eventual development of autism.

Intestinal issues may also be related to autism, whether these be through dietary problems, microbiome abnormalities, or immune conditions such as irritable bowel syndrome. Children with autism are four times as likely to have intestinal problems compared to children without autism. Whether or not this is a cause or effect of autism can be difficult to unravel. Inflammation in the gut can have profound impacts on the rest of the body, however children with autism also frequently have unusual dietary habits, which may also lead to changes in the gut. Whether intestinal disorders lead to autism or autism leads to intestinal disorders is an area of significant research. There are also dietary theories that some children convert gluten and casein proteins into endogenous opioids, which then go on to disrupt normal neurological development. Others point to vitamin D deficiencies as a possible cause in children.