WORLD AUTISM AWARENESS DAY
In case you weren’t familiar with the blue, yellow, red, and purple puzzle pieces you are seeing all over social media, April 2nd marks World Autism Awareness Day. The multi-colored puzzle pieces represent the autism spectrum, in all of its complexity and diversity. With diagnoses having almost tripled since 2000, the CDC currently estimates that 1 in 45 U.S. adults are on the autism spectrum, so it is likely that the neurodevelopmental disorder affects someone in your life (1). The best way to celebrate World Autism Awareness Day is to spend a few moments increasing your awareness of the condition in support of those who are affected.
History of Autism
The word “autism” was first used in 1908 by Swiss psychiatrist Eugen Blueler to describe patients being treated for schizophrenia who were withdrawn and seemingly living in their own world. It is believed that Blueler derived the term from the Greek word “autos,” which is roughly translated as “self.” It wasn’t until the 1940’s, with the research of European child psychologists Hans Asperger and Leo Kanner, that autism began to experience increased interest in the medical community. Kanner’s work involved a group of 11 children who had been diagnosed with schizophrenia but also exhibited significant difficulties with social interaction, were overly sensitive to external stimuli such as light and sounds, and appeared to have incredible memories and high intellectual potential. Asperger’s group exhibited similar characteristics to the children studied by Kanner, but were higher functioning and demonstrated advanced speaking ability (for their age).
Parenting was still widely believed to be the primary cause of autism until the early 1980s, when the translation of Kanner and Asperger’s research into English and further investigation into neurodevelopmental disorders made it clear that the spectrum of characteristics was rooted in genetic abnormalities. It was another three decades before classification of autism as a spectrum of related characteristics and conditions was introduced, when the American Psychiatric Association published the fifth edition of its “Diagnostic and Statistical Manual of Mental Disorders” (DSM) in 2013. Today, due in part to the research of UCLA psychologist Ole Ivar Lovaas on applied behavioral analysis (ABA), autism spectrum disorders are much more effectively diagnosed and treated.
What Exactly Is Autism?
To date, researchers have identified over 100 genes that are associated with autism (2). Based upon current understanding, changes or mutations in specific genes, especially ones that regulate communication between neurons, are the primary cause of autism. Most of these genetic variants are rare and therefore somewhat easy to isolate, but researchers believe the key to identifying the biological causes of most cases of autism—and the reasons why numbers are increasing—is likely found in the other 99% of the genome.
Autism is a continuum of developmental characteristics that impacts social skills, communication, and self-regulation. While it affects each individual differently and to different degrees, the DSM lists two primary characteristics for autism spectrum disorders (3):
1. Persistent differences in communication, interpersonal relationships, and social interaction across different environments.
-Those on the autism spectrum tend to have atypical speech patterns, with the continuum spanning from being nonverbal to having advanced speaking skills at a young age (Asperger’s Syndrome). Those on the spectrum also have difficulty understanding nonverbal communication, empathy, and socializing with peers.
2. Restricted and repetitive behavior, patterns, activities, and interests.
-Those on the autism spectrum have difficulty with transition and prefer rigid routines in almost every aspect of life. Individuals may repeat sounds (echolalia) or make repetitive movements (stimming) in response to over stimulation. Autistic individuals also have abnormal (either extreme or inhibited) sensitivity to external stimuli such as noise, lights, smells, taste and texture of food, pain, changes in temperature, etc.
Many of these characteristics are evident early in life and therefore autism may be reliably diagnosed as early as the age of 2, but autism is most often diagnosed after the age of 4 and even regularly well into adulthood (4).
Austism Risk Factors
As autism has its roots in genetic variations, some specific risk factors have been identified:
Women who are overweight and suffer from cardiometabolic issues such as preeclampsia and diabetes in pregnancy are at much higher risk for birthing autistic children. While the causal pathway is not entirely understood, there is some evidence that this may be related to higher levels of placental inflammation (5).
One of the most consistent findings in the epidemiology of autism is the association between parental age (especially of the fathers) and autism risk (6). The most commonly accepted hypotheses are that older men have sperm that has undergone more spontaneous mutations and men who carry specific genetic variants associated with autism may have more difficulty finding a partner and therefore simply have children later in life.
Parents who have one child on the autism spectrum have a significantly increased risk of having another autistic child (7). This effect is even seen in extended families, with having a cousin on the spectrum increasing your own risk more than two-fold.
While some have linked autism to childhood vaccinations, it is important to note that extensive research over the past two decades has found no evidence of a connection between autism and vaccinations (8).
Autism and Physical Health
Although autism is a neurodevelopmental disorder that primarily impacts social skills and communication, research has shown that those on the spectrum are (for various reasons) at an increased risk for many physical health conditions (9):
Research has found that both children and adults on the autism spectrum are at elevated risk for obesity, and the obesity risk is highest in those with the most severe autism characteristics (10). There are several factors that may be involved, including abnormal eating patterns, lack of interest in physical activity, and biological connection to maternal obesity (11).
Those on the autism spectrum have higher risk of both type 1 and type 2 diabetes. While the biological link is not clear, research has shown that children born to women who experienced gestational diabetes or preeclampsia are at higher risk for autism and diabetes (12).
Children with autism are about four times more likely to experience various gastrointestinal disorders and overall digestive discomfort (13). Research suggests that the biological tie may be genetic mutations that contribute to both autism and gut inflammation (14).
As much as 1 in 3 children with autism also suffer from a seizure disorder such as epilepsy (15). Researchers have identified specific genetic mutations that are common in both autism and seizure disorders, and have found a connection between risk of seizures and regression of mental functioning in autistic children (16).
Autistic individuals are more than twice as likely to die prematurely as those in the general population, with the range of factors including cardiometabolic health (obesity and diabetes), a diminished ability to recognize when they are experiencing an acute health event and therefore seek out medical attention, and increased risk of accidental injury (17). Therefore, it is vital that those on the autism spectrum develop a close relationship with their healthcare providers.