What is autism?
Autism or autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by significant social, communication, and behavioral challenges. ASD is also associated with restricted and repetitive movements usually seen in the first three years of the affected person’s life. The disorder develops or progresses gradually, worsening the communication and social skills with age.
Autism is a spectrum disorder and has many variants, with each variant having its own unique set of symptoms and neurodevelopmental delays that may be accompanied by severely challenged or gifted thinking and problem-solving abilities.
Autism is a life long, and complex psychiatric disorder that affects 24.8 million people worldwide or approximately one percent of the total world population. In the United States, the disorder is highly prevalent with the rate of one in 54 births, as of the year 2020.
According to the United States’ Centre for Disease Control and Prevention (CDC), Autism is the fastest-growing developmental disability with the prevalence in the US increasing by 119.4 percent from 2000 (1 in 150) to 2010 (1 in 68).
According to research by Buescher published in 2014, autism services are a great financial burden for the United States’ citizens, costing them 236 to 262 billion dollars annually.
How may autism present in a child?
Signs of autism may develop as early as eighteen months in affected children, however, in most cases, they present between two and three years of age. Autism has high variable symptoms with impaired or gifted behaviors all around.
The symptoms of autism usually fall under three overt types; impairments in social interaction, impairments in communication, and repetitive behavior. Around 0.5 percent to 10 percent of affected individuals will present with unexpected and extraordinary skills like splinter skills such as being able to play a specific piece on piano without knowing how to play the piano in general which makes them surprising prodigies and savants. People with ASD have certain advantages as they are strong visual and auditory learners known to excel in math, science, and arts.
Furthermore, around 40 percent to 60 percent of autistic individuals have poor motor tone and motor planning skills that can affect their ability to execute motor functions significantly. This can also negatively impact their quality of life.
Autism is also associated with mood disorders, sleeping difficulties, gastrointestinal problems, and gender dysmorphia, with gastrointestinal problems being the most common occurrence throughout their lives.
Individuals suffering from autism will have the following symptoms throughout their life:
- They will not point at objects to show interest such as not pointing at an airplane flying over to show interest.
- They also do not look at objects when another person points at them
- They will have trouble relating to others or not have an interest in other people at all
- They usually avoid eye contact and prefer to be alone
- They have difficulty understanding other people’s feelings or expressing their own feelings
- They prefer not to be held or cuddled. Some of them, however, may want to cuddle, but only when they want to.
- They are unaware when people talk to them but they do respond to other sounds.
- They tend to be very interested in people but are incapable of relating to them and lack the social skills needed to communicate with them or play with children their own age.
- They usually repeat or echo words or phrases said to them, or repeat words or phrases in place of normal language
- They have trouble communicating their needs using typical language skills.
- Children with autism may find it difficult to play pretend games
- They repeat actions over and over again and even find these actions comforting.
- They do not like change and find it difficult to adapt to it.
- They have unusual reactions to the way things smell, taste, look, feel, or sound
- They have an unusual tone of voice that may sound sing-song or flat and robot-like.
- They might lose skills they once had or stop using words they used before.
Autism doesn’t just affect those born with it, but also the family of affected individuals, especially the parents. Parents of autistic children are always under high stress.
What are the causes and risk factors for autism?
The exact cause and mechanism for the development of autism are not very well known. However, scientists believe autism to develop due to several genetic and environmental factors. The exact genetic mutations involved or even the epigenetic changes responsible for the development of autism, a complex neurodevelopmental disorder are not known or understood yet. It is believed that autism is a multifactorial disorder with environmental, genetic, and epigenetic factors all playing an important role in its development.
The risk factors for autism include:
- Family history of ASD
- Older parents
- Genetic disorders like Down syndrome, fragile X syndrome, and Rett syndrome are known to be associated with Autism Spectrum Disorder.
- Very low birth weight and Intrauterine Growth Restriction (IUGR)
- Maternal inflammatory and autoimmune conditions
- Maternal nutrition during pregnancy
- Maternal exposure to heavy metal particles in the air during pregnancy
There are several studies being performed to understand the pathophysiology of autism to better understand the risk factors and causes of ASD. A 2016 review study found that abnormalities of the intrinsic nervous system play a role in the development of disorders like autism. Rao and his team concluded that ‘Neural connections and the immune system are a pathway that may allow diseases originated in the intestine to spread to the brain’.
How to diagnose autism?
Children with autism may start showing symptoms at any point in the first three years of life and reliable and confirmed diagnosis of autism spectrum disorder can only be made by the age of the year. However, it is important for parents to see a physician as soon as their child has any concerning symptoms like those below:
- Avoiding eye contact,
- Having little interest in other children or caretakers,
- Limited display of language
- Getting upset by minor changes in routine.
Physicians and doctors use developmental milestone delays, personal and family history, and clinical presentation to help with the diagnosis of ASD.
The diagnosis of autism requires a general developmental evaluation which can act as screening for autism for all children followed by a comprehensive second evaluation, done by specialists for the sake of the diagnosis.
1. General Developmental Screening/Examination
Developmental screening is a formal evaluation of all children at certain ages and milestone checks, regardless of any concerns by the parents of the primary healthcare provider. Usually, all children should undergo developmental monitoring, less formal than developmental screening, to ensure proper growth of the child.
The American Association of Pediatrics (AAP) recommends that all children be screened specifically for ASD during regular well-child doctor visits at:
- 18 months
- 24 months
They also recommend additional screening for ASD if there is a positive family history or the child is at high risk for ASD due to preterm birth, low birth weight, and environmental risks like those mentioned above
2. Comprehensive Evaluation
If the primary healthcare provider suspects the child to have developmental disorders like ASD, they may refer them to a specialist like a developmental pediatrician, child psychologist, speech-language pathologist, occupational therapist, for a developmental evaluation.
During the evaluation, the patient is observed closely and maybe given a few structural tests to properly diagnose the patient.
It is important to properly diagnose the affected patients at an earlier age since the diagnosis of ASD is easily made in childhood, than in adulthood. Furthermore, a delayed diagnosis may result in alienation of the affected person as an adult due to their inability to make friends or connect with others their own age.
Can autism be treated?
There is no cure for autism as of now, however many interventions have been developed to help reduce the symptoms and increase the cognitive skills to help the affected individuals settle into society.
Due to the wide variations in the symptoms and development of autism in each case, interventions are usually patient-based and target specific to the needs of each case.
The multidisciplinary treatment of autism can be divided into two categories:
● Behavior and Communication Approaches
This type of intervention is recommended by both the American Academy of Pediatrics and the National Research Council, especially those that include family participation and provide the child with structure and direction.
This category includes Applied Behaviour Analysis (ABA) which is a widely accepted approach to the treatment of ASD, and it reinforces positive behaviors and discourages negative behaviors.
This along with social skills, occupational, and speech therapy make up an entire treatment plan that can reduce the symptoms of ASD, increase the quality of life, and provide significant independence to the affected individuals.
Myths about autism: Debunked
One of the common myths about autism is that dietary changes can help with the treatment of autism. Some recommend a dietary change including the use of vitamin and mineral supplements, hence implying that deficiency of certain vitamins and consumption of certain foods is linked with autism development. However, a 2017 review of randomized clinical trials studying the link between the two found no significant connections whatsoever.
Another major myth about autism that has resulted in the propagation of the anti-vaccine trend is that vaccines cause autism. This myth came into existence because the initial symptoms usually present around the time a child is to be vaccinated with MMR (Mumps, Measles, and Rubella) vaccine. These are two individual events with no causal-effect relationship however many people believe they do. Several studies debunked this myth due to the lack of any scientific data in its support.
Latest research about autism
Study to Explore Early Development (SEED) is a CDC funded, multi-year research being conducted with the objective of identifying risk factors responsible for the development of autism. The SEED research is under the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) which has in the past worked on monitoring autistic children and raising awareness about autism spectrum disorder and other developmental disorders. They have also made it easier for autistic individuals and their families to access comprehensive family-center care.