The Many Faces of Autism

By Richard Linsk, MD, PhD

Autism is an increasingly common condition. Autism Spectrum Disorder is the current diagnosis applied to children with a combination of deficits in social-emotional reciprocity, deficits in verbal and nonverbal communication, difficulties in forming and maintaining friendships, rigidity, stereotypical behavior, sensory hypersensitivities, and restricted interests. However, the diagnosis does not specify a cause and can be applied to children with a wide variety of presentations. Although we often attribute autism to genetics, the frequency of autism has been increasing dramatically over the last 30 years. At one time it was a rare condition found in one of 10,000 children.  More recently, it has been estimated that 1 in 52 children have autism. Clearly, genetics alone cannot account for an epidemic. Although some of it may be attributed to the increase in awareness of the condition, it appears that there’s also a real increase in the number of sick children.

THE MANY CONTRIBUTING FACTORS IN AUTISM

The causes of this condition are diverse. Anyone who’s seen a classroom of autistic children recognizes that they are not all the same. About 30% have intellectual disability, about 10% have amazing skills. Some look perfectly well. Others look chronically ill. About 30% have a seizure disorder.  About a third of children with autism undergo an apparently normal initial pattern of development but then regress into more severe dysfunction during the second year of life. About 30% of diagnoses can be attributed to identifiable genetic causes. A wide variety of different genetic factors associated with the development of autism have been discovered. However, the genes themselves rarely directly cause the condition. Rather, some genetic variations predispose the child to become sensitive to the increasing environmental stressors associated with modern life and leave them ill-equipped to respond.  Stressors can include such things as infections, inflammatory events such as immunizations, and environmental toxic exposures, such as mold or industrial chemicals. The increased use of medications, such as antibiotics causes deleterious changes to the gut flora, and the extensive use of acetaminophen (Tylenol) causes oxidative stress, especially in the developing brains of young infants. Additionally, it appears that there’s some correlation between certain fertility treatments, such as IVF and autism. Extreme prematurity and advanced paternal age may also be risk factors.

These bio-medical factors have a direct effect on the autistic child’s general health, neurological function, and behavior. Autistic children often suffer from abdominal pain, headaches, constipation, general discomfort, and sensitivities that make them miserable, irritable, and difficult to be around.

Our environment and food supply are full of toxins. Studies have looked at the prevalence of environmental toxins in children, and they are universal. Common toxins include glyphosate (RoundUp), pesticides, plastics used in packagings such as phthalates and BPA, food additives and preservatives, mold toxins in food or flooded basements, and heavy metals like lead and mercury. Many of these have been shown to act directly as neurotoxins and as endocrine disruptors, affecting sex hormone and blood sugar metabolism. No one factor is usually sufficient to push a child into autism but rarely is only one toxin present. Often toxins action synergistically, and gene variants that impair detoxification amplify the effect. Changes in gut bacteria can also have direct neurological effects.

THE IMPORTANCE OF FOOD IN AUTISM

This is why eating organic food and avoiding processed foods is so important. Organic food is largely free of added pesticides and herbicides. Processed foods are often full of preservatives, colors, flavorings, and industrial farming chemicals. Inadequate soluble fiber starves healthy bacteria and allows destructive bacteria to grow. Studies have shown that simply switching to a diet free of processed foods can dramatically improve classroom behaviors.

But even when avoiding toxins, some foods can be problems unto themselves. Many children with autism appear to be sensitive to proteins in wheat and milk which appear to be pharmacologically active, directly toxic to the intestines, and to provoke immune responses leading to autoimmune disorders. Many children, autistic or not appear to respond positively to the removal of milk and wheat products from the diet, often dramatically reducing irritability, GI problems, constipation, and other symptoms.

One recently discovered phenomenon in autism is the presence of antibodies, provoked by exposure to cow’s milk, that bind to the folic acid receptor in the brain and prevent the absorption of folic acid into the central nervous system. This causes a condition called cerebral folate deficiency. Folic acid is an essential vitamin in the brain required for many biochemical processes including DNA and protein methylation and detoxification. Deficiencies can lead to glutathione deficiencies. Glutathione is the major detoxifier and antioxidant in the body. Together these abnormalities can cause the brain to malfunction leading to autistic symptoms or other psychiatric disorders. Cerebral folate deficiency can be overcome by providing activated folic acid in the form of 5 methyl-tetrahydrofolate or folinic acid. A recent study showed clinical improvements in core autistic symptoms with the use of high-dose folic acid.

Many toxins and deficiencies end up causing increased oxidative stress and mitochondrial dysfunction, reducing the energy available for brain function. Mitochondrial dysfunction can cause a multitude of medical and neurological symptoms often seen in autism. Oxidative stress needs to be addressed through antioxidants such as vitamin C, glutathione, and plant-derived antioxidants. Mitochondrial dysfunction can be addressed with Co-Q 10 and Carnitine.

NAVIGATING SOCIAL SKILLS IN AUTISM

In addition to the biomedical abnormalities, children with autism have difficulty acquiring the social and relationship skills that most of us pick up without effort. They are often bullied in school. They need a calm, validating, and loving home in which to grow. They have difficulty processing stimuli and are very sensitive to noise, strong lights, strong smells, and strong emotions. They need accommodations in school, such as being in smaller classrooms, wearing headphones, and having a pleasant-textured object to touch. Occupational therapy approaches can be very helpful. They often exhibit emotional immaturity and have difficulty dealing with life’s stress. They need guidance in acquiring emotional skills that come naturally to other children, such as tolerating changes in their schedule or diet, delaying gratification, and tolerating setbacks. These often throw them into a tantrum.

While they often benefit from Applied Behavioral Analysis Therapy, which focuses on skill acquisition, they also need help in developing emotional skills and relationships. Therefore, relationship-oriented therapies are just as essential. One interesting approach is to imitate the behaviors of the autistic child and join them in their world, letting them know that you are someone who shares their interests and is worth engaging with. One of the central skills lacking in autism is “The Theory of Mind” which means that autistic individuals have difficulty understanding that others see things differently than they do. This can make them uninterested in what others care about. The Theory of Mind can be practiced by asking the child what they think other people are thinking.

It is also very helpful to provide the child with the safety of routines, calendars, and advance notice of any changes, giving them an opportunity to express their upset about the change in schedule and helping them process it and move on.

IMPROVING QUALITY OF LIFE IN AUTISTIC CHILDREN

Autistic symptoms are the end product of many biochemical and genetic abnormalities. These interact in vicious cycles synergistically making every other process inefficient and dysfunctional. The resulting brain dysfunction interferes with connection with others and skill acquisition. Children lose interest in the kind of human connections they need to develop. Ultimately, families and clinical teams need to address all of these issues to overcome the deficits of autism.

Often, we are unable to resolve the core symptoms of autism, but we are able to bring about substantial improvement in the autistic child’s general health, brain function, and behavior. The child is calmer, happier, and able to tolerate school, leisure activities and social gatherings in a way that allows families to enjoy their time together and improve their quality of life.

About the Author: Richard Linsk, MD, PhD, Amen Clinics Washington D.C.

Richard Linsk, MD, PhD, is a pediatrician and adult and child psychiatrist at Amen Clinics Washington D.C. Prior to becoming a psychiatrist, he was an integrative pediatrician, and before that he was a geneticist and biochemist. As a pediatrician, he has worked with many children with autism, and he is very comfortable with the diagnosis and management of the many forms of this disorder. To make an appointment with Dr. Linsk or to make a referral, contact us at 888-288-9834 or on our website here.