New research from Harvard Medical School is extending the collective understanding of autism. Autism has received a vast extent of coverage in the past concerning its disproven linkage with vaccines. However, many misconceptions about autism still exist.

Breakthrough Study in Understanding Autism

Moreover, every new study concerning autism is a critical step towards understanding what causes this disorder, how to prevent it, and how to treat it. First, let’s explore the following question: What is autism? Then, we’ll discuss the newest research from Harvard that has allowed scientists to better comprehend the connection between gender and autism, which has, in turn, led to the ability to quantify the likelihood that a child will be born with autism if another sibling already has it.

What is Autism?

The Center for Disease Control and Prevention (CDC) defines Autism Spectrum Disorder (ASD) as, “a developmental disability that can cause significant social, communication and behavioral challenges.”

In the United States, approximately 1 in 68 children has been diagnosed with ASD. However, ASD is approximately 4.5 more common in boys (1 in 42) than it is in girls (1 in 189). ASD occurs in people of all ethnic, racial and socioeconomic backgrounds.

Often, there are no external factors that set people with ASD apart. However, people with ASD might interact, communicate, learn and behave in ways that appear to be different from other people.

As the name of the disorder suggests, there is a wide spectrum among which people with ASD fall. For instance, some people with ASD are severely challenged with learning, thinking, and problem-solving skills while others with ASD excel. Similarly, some with ASD need constant assistance in daily tasks while others do not.

Many conditions that were previously diagnosed as something separate from ASD are now diagnosed as ASD. These conditions include Asperger syndrome, autistic disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS).

Signs of Autism

There are many signs during early childhood through late through adulthood that may indicate ASD. People with ASD may: not point at objects to show interest, not play “pretend” games, not look at objects when another person points to them, avoid eye contact, have unusual reactions to the smell, taste, look, feel or sound of things, repeat actions over and over again, have trouble understand other people’s feelings, seem to be unaware when people talk to them and still respond to other sounds, repeat or echo words and phrases said to them, have trouble expressing needs with words or motions, or have trouble adapting to routine changes.

Diagnosing ASD can be challenging since no medical tests currently exist. A doctor will examine a person’s behavior and development in order to make a diagnosis. ASD can be detected as early as 18 months. Usually, by age 2, experienced professionals can perform a reliable diagnosis.

Unfortunately, no cures for ASD currently exist. However, some treatments, such as therapy for speech and behavior, have been found to be effective.

What Causes Autism?

A definite cause of ASD does not currently exist. There are many possible causes including genetic, environmental and biological factors. Studies have shown that children who are born to older parents have a greater risk of having ASD.

Additionally, many scientists agree upon the understanding that genes are one risk-factor that a person can develop ASD. It is also widely considered to be true that a child who has a sibling with ASD is at greater risk of also having ASD. And now, with new research from Harvard Medical University, this understanding is even more developed.

The Gender Patterns of Autism

Results form a study by Harvard Medical School, published September 25, 2017 in JAMA Pediatrics, reveal that parents that have an older female child diagnosed with ASD indicated higher risks that younger siblings, especially younger male siblings, would also be diagnosed with ASD.

This finding is incredibly significant within the ASD community. Plus, this study further confirmed previous research findings that having one child with ASD signifies a higher risk that subsequent children will be diagnosed with ASD, that the disorder is fairly rare (approximately 1.2 percent of children or 39,000 out of 2.1 million children within the study were affected by ASD), and that males have markedly higher risks for being diagnosed with ASD than females.

This study included data from more than 1.5 million U.S. households with children within the ages of 4 and 18. In the study, approximately 2% of male children and 0.5% of female children had been diagnosed with ASD. The most significant findings of this study was that the rate of autism was 4% among girls with an older brother with ASD, 8% among girls with an older sister with ASD, 13% among boys with an older brother with ASD, and 17% among boys with an older sister with ASD.

These findings provide critical information to doctors and genetic counselors in their ability to assist families who already have a child with ASD. As a professor in biomedical information at Harvard Medical School and the first author the study, Nathan Palmer, explains,

“It is important to be able to provide worried parents who have one child with the condition some sense of what they can expect with their next child. That information is critical given how much better we’ve become at screening for the disease earlier and earlier in life.”

However, Palmer assures that this finding is not fully dire for parents with a daughter with ASD that hope to have more children,

“Even for the group at highest risk — males with an older female sibling with autism — the odds are still about five to one that the child will be unaffected”.

This research is vital in understanding both the genetic and environmental factors that cause ASD. The researchers underscore the idea that ASD is caused from interplay between both. Scientists are hopeful that this study will exemplify the power of big data in illuminating patterns. However, many more studies are needed to illuminate the entire cause and give us a full understanding of this disorder.