Let’s talk about Autism

As soon as I realized there was a possibility of my son having autism I started looking for information everywhere I could. Most of what I knew about this disorder was based on what I saw in movies, and most of what they showed about it didn’t seem to fit in what I saw in my little boy, so how I was supposed to accept such a diagnosis?

I think one of the reasons people are so scared of this disorder is the fact they know nothing about it. All we know is what we see on TV and that is not even 1% of what ASD is. I was determined to learn more. I had to understand how my son was put in this “spectrum” and for our sake I needed to get more information. I called everyone I could think of that I knew who had some knowledge about it. I called people in Brazil, I sent messages to great doctors I am blessed to know and e-mails to people I have never seen in my life. To my relief almost everyone I contacted was willing to help in some way. If you are a desperate mom you go above and beyond to find help for you child. And at that time information was the help I needed most. I have no idea how many hours I spent (and still spend) on the computer searching. Thankfully there is a lot of serious websites about the subject and I was able to learn quite a bite about it in a relatively short amount of time.

Since this blog is not only about our story, but also an attempt to help raise awareness and knowledge about autism I will share with you everything I find about the topic. So let’s start learning more about this complex disorder that is now part of my family’s life and may be closer to you than you think.

First of all, we need to know what this so called disorder is all about.

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopment disorders. ASD is characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. The symptoms are present from early childhood and affect daily functioning. Even though autism appears to have its roots in very early brain development, the most obvious signs and symptoms of autism tend to emerge between 2 and 3 years of age.

ASD can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some persons with ASD excel in visual skills, music, math and art. Symptoms can range from mild to severe and vary with each individual. For instance, some children may rarely use words to communicate, while others may hold extensive conversations and use rich language. Some children may not like to be hugged or touched, while others seek out and enjoy physical touch.

There is often nothing about how people with ASD look that sets them apart from other people, but people with ASD may communicate, interact, behave, and learn in ways that are different from most other people.

ASD occurs in every racial and ethnic group, and across all socioeconomic levels. The latest analysis from the Centers for Disease Control and Prevention estimates that 1 in 68 children have ASD. Studies also show that autism is four to five times more common among boys than girls. An estimated 1 out of 42 boys and 1 in 189 girls are diagnosed with autism in the United States. ASD affects over 3 million individuals in the U.S. and tens of millions worldwide. Moreover, government autism statistics suggest that prevalence rates have increased 10 to 17 percent annually in recent years. There is no established explanation for this continuing increase, although improved diagnosis and environmental influences are two reasons often considered.

What causes ASD?

Though ASD research has advanced significantly in the past decade, it is still not known exactly what causes the disorder. It’s likely that there are multiple causes, and thus multiple “autisms.” First and foremost, we now know that there is no one cause of autism just as there is no one type of autism. Scientists believe that both genetics and environment likely play a role in ASD. There is great concern that rates of autism have been increasing in recent decades without full explanation as to why. Researchers have identified a number of genes associated with the disorder. Imaging studies of people with ASD have found differences in the development of several regions of the brain. Studies suggest that ASD could be a result of disruptions in normal brain growth very early in development. These disruptions may be the result of defects in genes that control brain development and regulate how brain cells communicate with each other. Autism is more common in children born prematurely. Environmental factors may also play a role in gene function and development, but no specific environmental causes have yet been identified. We do know that ASD is not caused by psychological factors, parenting behaviors or practices, or vaccines.

What role do genes play?

Twin and family studies strongly suggest that some people have a genetic predisposition to autism. Identical twin studies show that if one twin is affected, then the other will be affected between 36 to 95 percent of the time. There are a number of studies in progress to determine the specific genetic factors associated with the development of ASD. In families with one child with ASD, the risk of having a second child with the disorder also increases. Many of the genes found to be associated with autism are involved in the function of the chemical connections between brain neurons (synapses). Researchers are looking for clues about which genes contribute to increased susceptibility. In some cases, parents and other relatives of a child with ASD show mild impairments in social communication skills or engage in repetitive behaviors. Evidence also suggests that emotional disorders such as bipolar disorder and schizophrenia occur more frequently than average in the families of people with ASD.

In addition to genetic variations that are inherited and are present in nearly all of a person’s cells, recent research has also shown that de novo, or spontaneous, gene mutations can influence the risk of developing autism spectrum disorder. De novo mutations are changes in sequences of deoxyribonucleic acid or DNA, the hereditary material in humans, which can occur spontaneously in a parent’s sperm or egg cell or during fertilization. The mutation then occurs in each cell as the fertilized egg divides. These mutations may affect single genes or they may be changes called copy number variations, in which stretches of DNA containing multiple genes are deleted or duplicated. Recent studies have shown that people with ASD tend to have more copy number de novo gene mutations than those without the disorder, suggesting that for some the risk of developing ASD is not the result of mutations in individual genes but rather spontaneous coding mutations across many genes. De novo mutations may explain genetic disorders in which an affected child has the mutation in each cell but the parents do not and there is no family pattern to the disorder. Autism risk also increases in children born to older parents. There is still much research to be done to determine the potential role of environmental factors on spontaneous mutations and how that influences ASD risk.

What Does It Mean to Be “On the Spectrum”?

The term “spectrum” refers to the wide range of symptoms, skills, and levels of disability in functioning that can occur in people with ASD. Some children and adults with ASD are fully able to perform all activities of daily living while others require substantial support to perform basic activities. With the May 2013 publication of the DSM-5 diagnostic manual all autism disorders were merged into one umbrella diagnosis of ASD. Previously, they were recognized as distinct subtypes, including autistic disorder, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome.

Each individual with autism is unique. Many of those on the autism spectrum have exceptional abilities in visual skills, music and academic skills. About 40 percent have average to above average intellectual abilities. Indeed, many persons on the spectrum take deserved pride in their distinctive abilities and “atypical” ways of viewing the world. Others with autism have significant disabilities and are unable to live independently. About one third of people with ASD are nonverbal, but can learn to communicate using other means.

Centers for Disease Control and Prevention
Autism Speaks 
National Institute of Neurological Disorders and Stroke (NINDS)
Autism Science Foundation
The Children’s Hospital of Philadelphia 
National Institute of Mental Health (NIMH)

Image Source: Gratiosgraphy