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Fundamentals of Autism

As a parent of an autistic child, I believe it is important to constantly learn about autism and to teach others. There are many parents who have difficult children, but they do not recognize the symptoms because they are not properly informed. In fact, some people even will go so far as to say ASD is not a real diagnosis. Early intervention is crucial for the child’s development and can make a huge difference in adulthood. Autism has been on the rise over recent years making awareness even more important. The purpose of this article is to give a brief history and general medical facts about autism that will help people to better understand the diagnosis.

Autism Spectrum Disorder is a group of developmental disorders that include a wide variety of symptoms. Some signs are repetitive behaviors, arm flapping, limited interests, unusual attachment to inanimate objects, self-harm, difficulty communicating, limited or no speech, social problems, and the inability to focus and to make eye contact. In some cases, children have physical disabilities and problems with their immune system. Early testing can diagnose ASD in early developmental years. The three main categories of autism are Autistic Disorder, Asperger’s and Pervasive Developmental Disorder. Children are categorized based on the severity of their symptoms.

Autistic Disorder is the most common autism diagnosis. A child with this diagnosis may have little or no speech, sensory issues, low IQ, and unusual and repetitive behaviors. This is my son’s diagnosis. His disorder is considered more severe because he is non-verbal. However, after hours of therapy, he is able to function in an inclusive classroom setting. There is a wide range of abilities between children, and they vary in their capabilities. For example, another child in this category may have language but be unable to function in an inclusive program. This shows how children who are categorized the same may act completely differently.

Asperger’s is more mild, and it usually does not include intellectual disabilities. Sometimes a child with Asperger’s is extremely intelligent, but may exhibit strange behaviors or interests. Pervasive Developmental Disorder is sometimes called atypical autism. Children with this diagnosis may have some common symptoms as Autistic Disorder and Asperger’s, but they are fewer and usually mild. This is the highest functioning diagnosis. In most cases these children have more of the social disorders associated with ASD.

Today the three categories are technically no longer used, and instead the term “ASD” is used as the blanket diagnosis. Children are labeled “on the spectrum,” and where a child is on the spectrum is determined by the degree of the disorder. An autism diagnosis uses many tests, such as the Autism Diagnostic Observation Schedule (ADOS), which is a standardized diagnostic test for Autism Spectrum Disorder. A professional may administer the ADOS and combined with information collected by family and caregivers, he/she will determine if a child has ASD and where the child falls on the spectrum. Other tests include Social Communication Questionnaire, Childhood Autism Rating Scale and Autism Diagnostic Interview.

Despite these new criteria, the developmental doctor that treats my son does not approve of the blanket ASD diagnosis. In his opinion, it interferes with research and makes funding more difficult.

Before the 1950s, autism was usually treated by putting those individuals in mental institutions. In 1911, severe autism was thought to be a form of schizophrenia or psychosis. In some cases, before the medical community recognized autism, children were thought to be mentally retarded.

In the 1950’s, child psychiatrists developed approaches to pathological mental development in children. In fact, the British Government passed the Mental Health Act in 1959. This act forced the local community to integrate and care for the mentally ill. The first epidemiological study of autism was published in 1966 in Britain. Parents formed groups in the 1960’s that played a huge role in bringing awareness to the disorder, getting children better care and improving school programs. Since the late 1960s, autism research has been growing at an incredible rate. People with ASD are getting much more help now than in the past. The definition of autism and the understanding of it have changed dramatically over the last century. These advances were fueled by the discovery of early intensive behavioral intervention therapies.

In 1950’s and 1960’s, the statistics for autism was 4 cases per 10,000 children. This increased in 2002 to 7 cases per 1000, and today it is diagnosed in 1 of 59 children, and even more in boys. The increase in diagnosis leads some researchers to believe that autism is not a genetic epidemic, but instead it is environmental because a genetic disorder would take millions of years to go from 4 in 10,000 cases to 1 in 59 cases. A clear understanding of the etiology of ASD technically has not yet been achieved. Researchers believe a variety of genetic and environmental factors play a role in the disease. There is certainly a genetic link in many cases, but research demonstrates that environmental factors may play a role.Some doctors argue that environment must play a role because there is no way a genetic disorder could reach today’s number so rapidly. Environmental factors may cause some children to have mild or severe autism-like symptoms. There is no one cause of ASD. Some contributing factors might be the age of the parents, leaky gut, inflammation and exposure to chemicals. Some research has shown a correlation between repeated overexposure to pesticides and autistic behaviors.

Epigenetics may contribute to the risk of autism. While there is no autism gene that can be identified, research has shown there are 102 genes associated with autism. Forty-seven of the genes were found to be related to intellectual disabilities, 52 were more related to autism and the other three were related to both. When studying the genes of someone with ASD, researchers found that the genes of autistic people had similarities with other mental illnesses. For example, ASD patient’s genes were found to have similar characteristics to the genes of patients diagnosed with schizophrenia, bipolar disorder and obsessive-compulsive disorder.

Mitochondria dysfunction is usually present in children with ASD. This would explain the reason why behaviors vary so much from one child to the next. Many children with ASD have absorption issues and digestive problems. Digestive problems lead to inflammation and a buildup of toxins in the blood and may affect the blood brain barrier. The blood brain barrier is something researchers believe is playing a role in disrupting brain development.

Research has also found that many children with ASD have problems with methylation. The lack of 5-MTHF will inhibit the methylation process and have a negative effect on brain function. Brain mapping is a technique where imaging of the brain is used to identify levels of activity in certain areas and brain region connectivity. This technique is becoming more popular because it allows therapists to identify and focus on specific issues in the brain. Since each part of the brain cannot properly communicate with one another, children will exhibit a variety of symptoms. Some parts of the brain show too much activity while others do not show enough. Children may not be able to show facial expressions in social situations relative to their present emotional state. Other children may have difficulty picking up social cues, may have aversions to smells or textures, exhibit repetitive behaviors, be unable to speak, have difficulty with fine or gross motor skills, and lack empathy and inability to focus. Some children with severe emotional issues can become violent. There are so many behaviors we still learn about every day.

MRI images have shown that an ASD brain in children grows faster than a typical brain between the ages of 2-4. The cortical surface expands but does not get thicker which can impair maturation of cortical white matter. However, this changes as the child ages. Research has shown that the ASD brain is the same size or slightly smaller by adolescence.

Since no two kids are exactly the same, it is difficult to predict behaviors and caregivers must learn to be prepared for anything. The only thing researchers can prove is that early intervention gives children the best chance of success as an adult. 75% of children with ASD will need some type of lifelong support.


Charles DeFrancesco BS


Future?, 2. (2019). What is Brain Mapping and How Is It a Part of Our Future? - Advanced Neurosurgery Associates. Retrieved 7 October 2019, from

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