Understanding Autism: What are the Autism ‘High-Risk’ Factors?

Autism research has come a long way over the past several years, but researchers still haven’t determined an exact cause for Autism Spectrum Disorder (ASD). There’s a consensus among scientists that a number of influences are more likely at play, including biological, genetic and environmental risk factors.

What are some of the most common risk factors for autism?

Genes and Genetic Mutations

There’s no such thing as an “autism gene” – scientists haven’t linked one specific gene to all cases of ASD. That being said, there’s no shortage of research studies that link genes and genetic mutations with a higher risk of autism, but dozens of genes are known to play a role.

To date, researchers have tallied at least 65 genes that have a strong tie to autism, and over 200 more that have weaker ties to ASD. The list continues to grow. Just this year, a study revealed 18 more genes associated with autism. The more “high-impact” mutations appear to disable genes that are critical to early brain development.

Each case of ASD is unique, with its own combination of behaviors and developmental delays. With each new gene discovery, researchers are able to better explain the different cases of autism.

Chromosomal Conditions

Centers for Disease Control and Prevention (CDC) data has shown that individuals with certain chromosomal conditions, like fragile X syndrome or tuberous sclerosis, are more likely to have ASD.

Family/Biological Factors  

In addition to genes, there are some other biological factors known to play a role in the likelihood that a child will have ASD. One is paternal age – older fathers have been linked with higher autism risk. Siblings also play a role. Research from the University of California, Davis (UCD) found that children with at least one older sibling with ASD have an 18 percent chance of also having the disorder.

Environmental Influences

A number of environmental factors are also known to have an effect on autism risk. When it comes to the nutritional risk factors associated with ASD, the research on folic acid and omega 3 deficiency has been less conclusive. However, many individuals with autism have been shown to be vitamin-D deficient. Exposure to some pesticides and heavy metals, particularly mercury and lead, have also been linked with autism.

Prenatal Influences

A meta-analysis study on the link between autism risk and prenatal influences revealed a number of pregnancy complications linked with ASD risk: advanced parental age at birth, maternal medication use during pregnancy, bleeding, gestational diabetes, and being born first rather than third or later.

Birth Complications

A 2017 review found strong links between autism and certain traumatic birth complications, including hypoxia and ischemia. Babies with neonatal anemia, or being low on oxygen-carrying red blood cells, were found to be eight times more likely to develop autism later in life. Fetal stress caused by meconium aspiration, a condition in which oxygen deprivation leads a fetus to inhale waste products in the womb, was also linked to a sevenfold increase of later ASD development.

Autism Risk Could Be Flagged as Early as 1-2 Months, Study Finds

As diagnostic assessments and resources continue to improve, more cases of Autism Spectrum Disorder (ASD) are being diagnosed each year. It’s well-known that intervening as early as possible gives children on the spectrum the best chance at overcoming the developmental deficits associated with ASD. As such, scientists have been working to discover more ways to detect ASD as early as possible.

Generally, autism can be diagnosed as early as 18 months of age. However, researchers from the Sackler Institute for Developmental Psychobiology at Columbia University found a biomarker that may be able to predict a high risk of autism in 1- to 2-month old infants.

The research team, using data from the National Database for Autism Research (NDAR), analyzed brain scans of 71 high and low risk infants at either a 1-2 month period or a 9-10 month period. One set of scans was taken during a resting period of sleep and the other while the infants were presented with their native language.

According to the study findings, the infants with a high risk of ASD showed some particular patterns during sleep: higher levels of “noise” and an increased randomness in spontaneous head movements. The high-risk 1- to 2-month old infants also showed similar head movement signatures to each other while the low risk infants showed distinct head movement signatures during both the sleep and language conditions.

The researchers also found that specific head movement features during sleep predicted that the 1- to 2-month-old infants in the high-risk group would exhibit delayed early learning developmental trajectories. Even those high-risk infants without ASD diagnoses showed significantly lower functioning in childhood compared to the low risk infants, so the current research offers the potential to forecast which infants will show atypical developmental behaviors as toddlers.

Since the study is the first of its kind, additional research is needed to replicate and confirm the current findings. Nonetheless, the Colombia University team has brought an exciting possibility to the forefront of autism research.

Previous research has shown other innovative ways in which earlier autism detection might be possible. One team of researchers used brain scans and artificial intelligence to predict which 6-month-old infants would be diagnosed with ASD as toddlers with a 96 percent accuracy rate.

Just a couple weeks ago, the National Institutes of Health (NIH) announced research grants totaling nearly $100 million to support large studies on autism over the next five years. Our fingers are crossed that scientists will continue unearthing new methods for earlier ASD detection. Watch this space for updates.

Many Nonverbal Children with Autism Conquer Severe Language Delays

Speech delay is a core characteristic of Autism Spectrum Disorder (ASD), and it’s common for some children with ASD to regress and lose the ability to say certain words or phrases they’d once mastered. Many parents are told that their child will likely remain nonverbal, but an encouraging study published in the journal Pediatrics offers hope that this isn’t always the case.

In fact, the team of researchers in the 2013 study found that the majority of nonverbal autistic children in the study sample went on to overcome their severe language delays. The research included 535 children with ASD who hadn’t acquired the ability to speak in phrases by age four.

The researchers collected and analyzed data from the Simon Complex Collection (SSC), which is a multisite database of biological and phenotypic data on children ages four to 18.

Of the 535 children, 163 were considered to be severely speech delayed, meaning they could only speak in single words (‘no phrase speech’ group). The remaining children were categorized into the ‘phrase speech’ group, and a subsample of this group was considered as the ‘fluent speech’ group since they were given an ADOS (autism diagnostic observation schedule) module 3 or 4.

According to the study results, the majority of the children (70 percent) achieved phrase speech by 8 years of age, and nearly half of the study sample (47 percent) attained fluent speech. These encouraging findings provide hope that many children who are nonverbal at 4 years old can overcome their severe language delays.

Breaking down these findings further, the researchers concluded that the biggest predictors of successfully attaining phrase/fluent speech were nonverbal cognition and showing an interest in social engagement. Repetitive and sensory behaviors, on the other hand, didn’t predict whether a child would go on to attain speech.

“These findings offer hope to parents that their language-delayed child will go on to develop speech in elementary school, or even as teenagers,” Autism Speaks Chief Science Officer, Geraldine Dawson, said in an article. “By highlighting important predictors of language acquisition – especially the role of nonverbal cognitive and social skills – this also suggests that targeting these areas in early intervention will help to promote language.”

Early intervention with Applied Behavior Analysis (ABA) is a scientifically-validated method that helps children on the spectrum work through areas of severe developmental delay, like language and nonverbal communication.

Although the initial news of an ASD diagnosis can leave parents feeling overwhelmed or disheartened, this research serves as solid evidence that many children with autism have the ability to progress past their developmental delays to reach their highest potentials.

Parents’ Interactions with Babies May Ease Signs of Autism as Toddlers, Study Finds

Over the decades, ABA (Applied Behavior Analysis) therapy has proven itself as an effective treatment option for the severe developmental delays seen in children with autism spectrum disorder (ASD).

Moreover, the scientific research suggests that the earlier a child begins early intensive therapy with ABA, the more gains are made in critical areas like communication, social skills, and day-to-day living skills. In a study of over 1,400 children and adolescents with ASD, researchers from the University of Missouri found that children who received more intensive therapy at younger ages saw greater advancements in communication and social skills.

It’s important for children to receive the earliest possible therapy because these early experiences play a critical role in brain development. According to a report by the National Early Childhood Technical Assistance Center (NECTAC), Harvard University’s Center on the Developing Child says “high quality early intervention services can change a child’s developmental trajectory” and “intervention is likely to be more effective and less costly when it is provided earlier in life rather than later.”

Parents also play a key role in a child’s success rate. In fact, a recent 2017 study found that parents’ interactions with babies at high risk of autism may help to ease the severity of autism symptoms at age three.

In the preliminary part of the study, conducted back in 2015, parents received individualized training sessions on how to respond to their baby’s facial expressions and gestures. Then, the parents worked these teachings into their interactions with their 9-month old babies over the next five months.

At the end of the five months, researchers measured early autism signs using the Autism Observation Scale for Infants, as well as the quality of parent-child interactions. The data showed that babies in the treatment group showed fewer early signs of autism and better interactions with their parents.

The 2017 follow-up study assessed these same children, now at ages 2 and 3, with the Autism Diagnostic Observation Schedule (ADOS). Even years later, the quality of parent-child interactions was better among those who had received early parent training, and the toddlers showed less severe autism features.

 The researchers stress that larger studies are needed to confirm these results. However, they argue that “preemptive” therapy among infant populations can help parents address the early signs of autism and potentially ease the features of ASD during later development. This research solidifies just how important of a role parents play in the very early development of their child.

Brain Scans and Artificial Intelligence Could Predict Which Infants Will Develop Autism

Autism Spectrum Disorder (ASD) tends to manifest at different times and in different ways in each child, but in most cases, symptoms will begin to appear around the age of two.

Now, researchers may be getting closer to pinning down a way to detect autism much earlier. In a new study, which appears in the journal Science Translational Medicine, a team of scientists was able to predict, with 96 percent accuracy, which 6-month old infants would go on to be diagnosed with autism as toddlers. They were able to do so with brain scans and artificial intelligence.

The team used MRI (magnetic resonance imaging) machines to capture brain scans of the neural activity of 59 infants in 230 different areas across the brain. Each of the infants had at least one older sibling on the autism spectrum.

Instead of focusing on differences in brain anatomy, the researchers analyzed how the different brain areas connected with one another. The synchronization of these different regions is known to play a critical role in language, repetitive behaviors, and social skills – areas which often pose challenges to those with autism.

Through this analysis, the researchers identified 974 pairs of connections that were linked with autism. These classifiers were then entered into an artificially intelligent computer program which could almost always accurately predict which six-month-olds would go on to be diagnosed with autism at the age of two.

“When the classifier determined a child had autism, it was always right,” researcher Robert Emerson from the University of Carolina said in a press statement. “But it missed two children. They developed autism but the computer program did not predict it correctly, according to the data we obtained at six months of age.”

However, it’s not likely that single brain scans will be used as a basis to diagnose autism in the future. Presumably, a combination of pre-tested evaluations would be used to confirm results and better predict autism.

“I think the most exciting work is yet to come, when instead of using one piece of information to make these predictions, we use all the information together,” Emerson said. “I think that will be the future of using biological diagnostics for autism during infancy.”

Being able to better predict the onset of autism could help families provide therapy for their children at earlier ages. Plenty of research shows that the earlier a child receives ABA (Applied Behavior Analysis) therapy, the better chance there is to improve in critical developmental areas like language, social skills, motor skills, and day-to-day living skills.

“The more we understand about the brain before symptoms appear, the better prepared we will be to help children and their families,” researcher Joseph Piven concluded.