Scientists Identify a Large Number of Specific Genes Linked to Autism Risk


A recently published study has stated that dozens of new genes may play a role in causing autism. Scientists identified over 60 genes with a 90% chance of increasing the child’s risk for autism. Previous to this study, research had only confirmed 11 genes with this level of certainty for risk.

Past studies have shown how genetics play a role in the development of autism, but this study particularly focuses on how specific genetic mutations can lead to the disorder. Scientists have noted that these specific genes tend to cluster around three sets of important biological functions. Each of these functions can affect traits commonly associated with autism. The first set focuses on the development of synapses in the brain, essential for communication between nerves. The second set creates genetic instructions, and the third conducts DNA packaging in cells.

This genetic-focused research study is essential in helping to treat various disorders. Dr. Matthew State, chairman of the Department of Psychiatry at the University of California-San Francisco, states, “It’s the understanding of biology at that level that’s helped treatments for cancer. It’s something we’ve been missing in psychiatric disorders in general.” Similar studies for diseases such as childhood leukemia have enabled medical teams to take the disease from having a high level of fatality to something that is treatable. Now, this research can be applied to psychiatric and neurological disorders. State adds, “[Research has] laid the groundwork for a transformed understanding of the disorder and hopefully a transformation in how we’re able to diagnose and treat it.”

Autism has been known for being a very complex disorder, and at times difficult to treat because it has been tough to grasp just how and why it develops. Now, by analyzing the genetic foundations of the disorder, it may be possible to provide more personalized treatments based on an individual’s unique gene set. Dan Smith, a senior director of neuroscience, states, “If everybody were to be genotyped when they’re diagnosed, and the more this is studied, the more we’ll be able to say what the biological causes are. [Therefore], we can target your symptoms with more personalized medicine.” 

Along with the development of more personalized treatments, the study also provides insight into how the environment may play a role in the development of autism disorders. Recent research has looked into how environmental factors can cause genes to mutate. State says, “This is going to give us an opportunity to study the interactions between genes and the environment”. Researchers are optimistic that these studies will lead to a better understanding of the disorder, and therefore better treatment for all individuals on the spectrum.

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Researchers State That Over 100 Gene Mutations Lead to Autism Development

In the years of studying the development of autism disorders, it has been difficult to pin down specific genes that may lead to the disorder, due to the lack of technology or the amount of families willing to let their child be tested. However, a recent analysis of years of research has lead scientists to state that over 100 different gene mutations contribute to the development of autism.

In total, researchers at over 50 laboratories were able to identify over 100 mutated genes that were leading to development of autism spectrum disorders (ASD). Over a dozen of these genes had not been identified previously as playing a role in autism.  According to the scientists, at least 30 percent of mutations are spontaneous, and have nothing to do with genetic inheritance from the child’s parents.

Michael Ronemus, researcher at Cold Spring Harbor Laboratory, states, “There’s somewhat of a mechanism difference in the genes that are being hit, and the way that gene function is being changed.” For example, his study found that the mutations in girls affected genes that play crucial roles during initial stages of the embryo in the womb. Because girls are much less likely to get autism than boys, scientists believe it takes a heavy hit like this for the disorder to develop in girls.

Ronemus and his colleagues tested genes of over 3,000 people, including children with the disorder as well as their parents and an unaffected sibling. Analyzing genes within families helped researchers configure which mutations are not inherited, and rather, occur spontaneously. Then, the mutations were compared among all participants, to see which ones were shared in the individuals with autism.

Ronemus states, “The amazing thing about autism genetics is that in many cases, you disrupt just one copy of the gene, you cause some sort of dysfunction”. This is very different from other disorders involving genetics, which require mutations on both copies of the gene in order to cause any disruption.

Scientists are now beginning to use faster and less expensive gene-scanning technology to study the shared mutations in people’s entire genomes, which will allow them to analyze hundreds more potential mutations. Ronemus states, “If we have better genetic screening when a child is diagnosed with autism, we might be able to say, here is the behavioral intervention they need”. When you are able to intervene early, the child is able to receive the best and most effective care and therapy at an earlier age, allowing them better opportunities to develop important skills.

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New Program Prepares Individuals with ASD for Careers in the Digital Arts


With autism diagnoses rising significantly in recent years, increasing numbers of programs have been introduced to help young adults on the spectrum find successful careers that they enjoy. Many individuals on the spectrum have shown a great interest in computers, IT, or the digital arts, but have been unable to work with these interests and find an employed position in these fields. The Exceptional Minds digital art vocational school is looking to change these statistics and improve the employment possibilities for these young adults.

Exceptional Minds is a digital arts academy with a three-year vocational program that prepares individuals with autism to have meaningful careers in technology, such as multimedia, post-production, visual effects, and digital animation. Yudi Bennett, Director of Operations at Exceptional Minds, stresses that her students have incredible technical creativity, but many have been unable to reach their full potential in becoming employed. Therefore, the school enables the students to gain the skills to work in highly collaborative and creative fields. At Exceptional Minds, students have worked with major software applications and have done subsequent visual effects work on movies such as Dawn of the Planet of the Apes, American Hustle, and Lawless.

Recently, Exceptional Minds has expanded its workplace readiness program. Board certified behavior analysts are providing key developmental training as well as one-on-one consultation for students enrolled in the school. Typically, very limited work readiness practices are available for autistic individuals beyond preparing them for repetitive tasks. Dr. Laurie Stephens, Director of Clinical Services for Education Spectrum, states, “While many of the expected behaviors on the job are learned intuitively by most people, those with ASD can also learn the skills, but need explicit training and practice in order to do so.”

Currently, a huge gap exists in terms of the autistic population and post-high school vocational training. As a result, Exceptional Minds incorporates soft skills training into all areas of learning. This includes having students participate in project development that is similar to a real work environment, giving them better preparation tp possibly work in these areas. With soft skills training and great creative and technical skill, graduates of Exceptional Minds three-year digital arts program are expected to be strong candidates for fulfilling jobs in the highly competitive fields of visual effects and post production.

At ICare4Autism, one of the primary focuses is the Global Autism Workforce Initiative, which emphasizes the importance of creating Autism-friendly workplaces, as well as helping ease the transition from high school to an employed setting. The next ICare4Autism Conference, which will take place in Washington, D.C., will focus on the challenges individuals on the spectrum have faced in gaining employment, and how companies can give individuals on the spectrum better opportunities by implementing programs that will highlight and utilize their strengths.

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Parents Can Help their Autistic Child More Effectively Through Group Therapy


Children on the spectrum may benefit from receiving therapies from their parents or caregivers.
(photo: betterparenting.com)

With autism disorders being diagnosed in the United States at increasingly high rates, professionals are looking for ways to share their expertise as much as possible. The number of clinicians who treat those on the spectrum is growing, but not nearly at the rate that children are being diagnosed.  Therefore, it is becoming essential for parents and other caregivers to participate in group therapy to learn how to effectively help improve various skills for their child.

A new study, conducted by researchers at Lucile Packard Children’s Hospital Stanford, found that parents could learn to effectively deliver autism treatments to their own children through a short series of classes. The recent study focused primarily on building language skills for children with ASD. Their approach essentially teaches groups of parents various autism therapies that can be delivered right in their own home.

Pivotal response training, a therapy utilized in the group sessions, targets the development of kids’ language skills. The therapy sessions provide parents with structured methods for building children’s verbal skills during typical interactions that they can anticipate the child experiencing in their daily lives. Researchers stress that having parents provide treatments for their children is meant to be complimentary to that of what autism professionals provide, and by no means is it meant to replace the effective methods that professionals use in treating the children. However, having parents learn these methods can be truly valuable, as well as cost-effective.

Dr. Grace Gengoux, clinical assistant professor of psychiatry and behavioral sciences, and psychologist specializing in autism treatment at the hospital, states, “There are two benefits: The child can make progress, and the parents leave the treatment program better equipped to facilitate the child’s development over the course of their daily routines”. She continues, “The ways that parents instinctually interact with children to guide language development may not work for a child with autism, which can frustrate parents. Other studies have shown that learning this treatment reduces parents’ stress and improves their happiness. Parents benefit from knowing how to help their children learn.”

In order to build language skills in the child, parents are taught to help identify something that the child wants, and then systematically reward the child for trying to communicate what they want. For example, the parent can say “Do you want the toy truck? Say ‘truck’.” The child might try to begin saying the word, and the parent would reward the child’s efforts by giving him the toy truck to play with. Dr. Antonio Hardan, lead author of the study, states, “Parents can create opportunities for this treatment to work at the dinner table, at the park, in the car, [etc.]”.

Researchers are now following up with the parents that participated in the group sessions to see how they can provide additional assistance in having children and families benefit more effectively from this therapeutic approach. Furthermore, they would like to see how parental efforts can help children on the spectrum build various other skills, such as motor skill development, or social skills.

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The Potential Link between Autism and Caesarean Sections

According to a recent study, there may be a link between autism and children delivered by Caesarean section.  Although the link is still unclear, researchers have stated that surgical delivery can raise the risk of autism disorders by 23 percent.

Researchers at University College Cork analyzed medical statistics in various countries, including the US, Canada, Sweden, and Australia, to see how children born via Caesarean section may be more vulnerable to developing ASD. Professor Louise Kenny, obstetrician and study author, stressed that they are still in the early stages of research, and more studies will need to take place in order to further analyze the potential link. She states, “Parents should be reassured that the overall risk of a child developing ASD is very small and that Caesarean section is largely a very safe procedure, and when medically indicated, it can be lifesaving”.

This new study, published in the Journal of Child Psychology and Psychiatry, reviewed two existing findings from studies on ASD and C-sections and looked for the links between surgical delivery and ADHD (attention deficit and hyperactivity disorder). Although there may be a link, the relationships between psychological development and the type of delivery used at birth is very complex.

Eileen Curran, lead author of the study, states, “Given the accelerating rate of Caesarean section globally, this finding warrants further research of a more robust quality using larger populations to adjust for important potential confounders and explore potential causal mechanisms.” In Ireland, for example, over one-third of all babies are delivered via C-section. The World Health Organization recommends that no more than 10 to 15 percent of births should be through this surgical method. With autism disorders being diagnosed more frequently in recent years, scientists are exploring an expansive amount of possible factors. Simultaneously, the rate of births by C-section has grown tremendously over the past few decades. For example, births by C-section have tripled in Britain since 1970.

The new study is a meta-analysis of 25 previously published papers on the links between C-sections and disorders such as autism and ADHD. Some research papers stated a risk of autism for upwards of 40 percent when the child is born by Caesarean section. Although it is still unclear what is driving this association, children born by Caesarean section have different gut flora than those born by normal delivery, which may be a contributing factor in psychological development.

Another theory derives from the fact that C-sections are typically carried out at 37 to 39 weeks, as opposed to the completed 40-week gestation. Curran states, “It is possible that the last few weeks are important for brain development, and therefore being born near rather than at term may lead to an increased risk of psychological problems”. Curran continues, “Given the accelerating rate of Caesarean section globally, this finding warrants further research of a more robust quality, using larger populations to adjust for important potential confounders and explore potential cause mechanisms.”

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Researchers Study the Link between Autism and Seizures

A recent study has shown that autistic mice models develop abnormal social behaviors after continuously experiencing seizures. The research findings, which were presented this past Tuesday in Boston at the Autism Consortium Research Symposium, add further evidence that seizures and autism are often linked. Furthermore, seizures can amplify the effects of various autism risk genes.

Matthew Anderson, associate professor of pathology at Beth Israel Deaconess Medical Center and lead investigator of the study, states, “It’s sort of a gene-environment interaction.”
  The researchers explored the link between autism and epilepsy, as one in three autistic individuals suffers from epilepsy as well. These men and women typically score much lower in tests for social and motor skills compared to those without epilepsy.

In order to explore the link, researchers injected healthy mice with pentylenetrazole, a chemical that induces seizures, once a day over the course of ten days. Over the course of the study, the mice experienced increasingly severe seizures. Furthermore, they began to prefer spending time with an inanimate object as opposed to another mouse, demonstrating a social impairment.  Vaishnav Krishnan, postdoctoral fellow in Anderson’s lab, states that many mouse models of autism demonstrate the same social impairment evident in those experiencing seizures.

Although researchers cannot officially state that the social impairments stem from seizures and not the drug itself, Krishnan states that researchers have obtained very similar results using another drug that induces seizures. Furthermore, post-seizure, the mice showed dampened expression of an autism-linked gene called PTEN. The mice also showed an increase in the UBE3A expression after receiving the first drug dose. UBE3A is located in a chromosomal region that is duplicated in up to 3 percent of individuals with autism.

To further investigate the role of UBE3A in social behavior, researchers created mouse models that had either one or two extra copies of the gene. Their findings determined that the mice with two extra copies of the gene have impaired social abilities even in the absence of the seizure-inducing drug. Anderson states, “If they have this extra copy, their social preference is lost completely”. The next step for the researchers is to further investigate if seizures amplify other autistic symptoms, aside from issues with social behaviors, in mice. They also hope to pin down the specific brain regions that are involved in the process.

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New Evidence Supports the Link between Air Toxins and ASD

According to a recent investigation, many children with autism spectrum disorder (ASD) have been exposed to unusually high levels of air toxins during their mother’s pregnancy and in their first two years of life. With the diagnosis rate for autism disorders reaching an all-time high in the United States, these findings are critical in helping understand some of the potential reasons for the development of the disorder. This new study, conducted by the University of Pittsburgh Graduate School of Public Health, is being presented today at the American Association for Aerosol Research.

Evelyn Talbott, professor of epidemiology at Pitt Public Health and principal investigator of the study, states, “Autism spectrum disorders are a major public health problem, and their prevalence has increased dramatically”. She continues, “The causes of autism are poorly understood. Very few studies have included environmental exposures while taking into account other personal and behavioral risk factors. Our analysis is an addition to the small but growing body of research that considers air toxins to be a risk factor for ASD.”

The team of researchers analyzed families with and without ASD within southwest Pennsylvania. Among the children with autism disorder, the researchers found links to increased levels of both chromium and styrene. Autism currently affects many families in the Pittsburgh region, reinforcing the idea that air quality is vital towards the health of young children. Grant Oliphant, president of The Heinz Endowments which funded the study, states, “Our aspirations for truly becoming the most livable city cannot be realized if our children’s health is threatened by dangerous levels of air toxins. Addressing this issue needs to remain one of our nation’s top priorities.”

For the study, Talbott and her colleagues interviewed 217 families of children with ASD, comparing these findings with information collected from two sets of comparison families of children without ASD, who were born during the same time period and within the six-county area.  According to Talbott, “one of the strengths of the study was the ability to have two types of controls. [They] provided a comparison of representative air toxins in neighborhoods of children with and without ASD.” The research team used the National Air Toxins Assessment (NATA) to estimate the exposure of 30 different pollutants known to cause neurodevelopmental issues.

Researchers noticed that children who fell into high exposure groups for styrene and chromium were at a two-fold greater risk of ASD. Other toxins that were found to be associated with ASD risk are cyanide, methylene chloride, methanol and arsenic. Styrene is used most commonly in the production of plastic and paint. It is also within the combustion of burning gasoline in vehicles. Air pollution containing chromium is typically a result of industrial processes such as the hardening of steel, and it can also come from power plants.

“The next step [of this study] will be confirming our findings with [additional research] that measures the specific exposure to air pollutants at an individual level to verify these EPA-modeled estimates,” Talbott states. For now, these results provide strong evidence that environmental exposure can in fact play a strong part in the development of ASD.

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Horses May Help Ease Some of the Symptoms of Autism

Many children have experienced improved behavior through therapy with animals.
(photo: autismunderstandingthepuzzle.blogspot.com)

A popular alternative treatment for children on the autism spectrum has been to have animals incorporated into therapy sessions. In particular, research has shown that interaction with horses has eased many of the symptoms of those with the disorder. Author Rupert Isaacson has pioneered the Horse Boy Method, which focuses on having the child interact with a horse. The foundation incorporates workshops, as well as 3-day or weeklong camp experiences.

Mr. Isaacson states that there is a wonderful psychological power to horses, and this power can help those dealing with obstacles that often come from the disorder. Mr. Isaacson noticed a special interaction between his non-verbal autistic son and the horses that he came across. “The moment I put Rowan on [the horse’s] back, he began to speak. A light bulb went off in my head,” he states.  After so many failed attempts at getting his son to express himself, he was confident that animal interaction could have an incredible effect on children and adults with ASD.

Mr. Isaacson is aware that many people are skeptical of this approach, but emphasizes that  primary focus should be to follow the child and how they are responding to this new interaction. “When you [are horseback riding] with the child in front of you, which is how we do it in Horse Boy, you can create these really dance-like rhythms. The reason it feels so good is it fills your body with a feel-good hormone called oxytocin, and the child who is racked with anxiety, with sensory discomfort, gets this industrial-sized shot of bliss hormone.” They have witnessed first-hand the improved behaviors among children that have participated in the program, with the children simply feeling at ease.

Although there is not a lot of scientific evidence to back Mr. Isaacson’s approach, there is currently a new wave of researchers who are looking into these alternative therapy methods. In addition, many parents have seen incredible benefits from having their child help take care of a pet, so participating in therapy with horses is something that many are willing to try.

Rowan Isaacson has made a lot of progress over his years of therapy. He has even started his own web-based TV series that focuses on animal characters. Mr. Isaacson is thrilled that his son has been able to better express himself, as well as find something he is so passionate about.  Mr. Isaacson is determined to expand Horse Boy and have other children and parents experience the benefits of animal therapy. His mission is to contribute to a society better integrates autistic individuals, allowing them to utilize their skills and interests.  

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Medical Center Unveils Autism-Friendly Emergency Room

A visit to the emergency room can be difficult or uncomfortable for anyone, but for a child on the autism spectrum, it can be incredibly traumatic. The fast-paced environment, bright lights, noises, and sense of urgency can have the individual feel very overwhelmed. Due to this issue, one medical center has developed a center specifically for the needs of individuals with autism.

Dr. Olga Goldfarb, director of the Autism Program at Capital Health’s Institute for Neurosciences in New Jersey, states, “For patients with autism and for their families or caregivers, [a trip to the E.R.] can be a nightmare experience”. She continues, “They have problems interacting and approaching other people. It can be very scary for them.” As a result, Capital Health Medical Center – Hopewell has launched the first “autism-friendly” pediatric emergency department in New Jersey.

All hospital staff in the pediatric unit spent the past few months receiving specialized training to help aid individuals on the spectrum. They were taught to recognize various behaviors associated with ASD, and how to help provide a calmer experience and work with their specific needs. For example, Heather Keller, nurse manager of pediatric services, states, “[Individuals with ASD] do not like fluorescent lighting, so [we] turn down the lights. We have an overhead light that we shine in the corner”.

The current pediatric emergency department at Capital Health is separate from its adult emergency department, and features 17 beds. Although it is being rolled out in the Hopewell medical branch first, they are already planning for expansion. In addition to the training that is being given to the medical professionals, the center incorporates a parent focus group who meets with staff to discuss ways that the hospital can best care for children with autism. Toys, blankets, and other comforting objects are provided at the nurses’ stations, categorized by their appearance and texture (depending on what the patient prefers).

The pediatric emergency nurses also use iPads with apps designed to help staff communicate with patients on the spectrum. This technology will assist the nurses to understand why the patient is there, their levels of pain, and their preferred method of communication.

With the autism diagnosis rate in the United States reaching a high of 1 in every 68 children, it is becoming more essential to develop programs that assist individuals on the spectrum in various aspects. This model for an autism-friendly medical center is something that other medical centers in the nation should consider adapting, as there are increasing numbers of individuals who need specialized services in order to receive the most effective care.

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Researchers Study the Barriers Adults with ASD Face Upon Entering the Job Market

As many teenagers and young adults with autism disorders phase out of high school settings, they face the difficulty of trying to obtain stable employment. For example, Jay Tyner-Wilson, a 21-year-old on the autism spectrum, aged out of Fayette County Public Schools over six months ago, but has been unable to land a paid position at any company, despite his many attempts. His mother is particularly concerned, as many individuals with autism are never given the opportunity to gain employment, and therefore never get to experience growth in certain areas of their lives, or get the chance to make a living for themselves.

This mother and son have taken part in a focus group that is part of a three-y
ear study at the University of Kentucky College of Education. This study addresses the difficult transition from school to work for those on the spectrum. The biggest challenge, according to Ms. Tyner-Wilson, is “getting that one person that might be willing to take a chance on somebody like my son and give him a job”.

In particular, res
earchers from the UK are looking at these students in the focus group, and trying to see how they can build a life after high school. The National Institute of Mental Health awarded a $693,000 grant to professor Lisa Ruble of UK College of Education, as well as a cross-disciplinary team of co-investigators at UK and Indiana University-Purdue University Indianapolis.

Lisa Ruble hopes that funding can help reduce the disconnect from services that often occurs when students with autism complete high school. “What we are trying to do is maximize opportunities”, Ruble states. She continues, “We need to do a better job in understanding what the needs are and how to better respond to this large number of students who need to be employed.”

As the first year of the study carries on, researchers are meeting with the parents of the students, as well as school administrators, policy makers, and job coaches. They are trying to get a better understanding of the issues involved with the plans an individual has after graduation, and then implementing those plans. They are focusing on what a good transition between school and employment would look like, as well as identifying the barriers and finding the solutions to overcome them.

Melanie Tyner-Wilson said the most “powerful thing” about the study is that it brings national attention to the issue. She adds, “It is exciting when something gets researched, it gets attention and it counts. We have all kinds of people like my son Jay [in the country] and we need to figure out how we are going to meet their needs and give them a quality of life.”

Like Jay, individuals on the autism spectrum have a lot of great qualities and strengths they can offer to particular jobs, they just need “different layers of support”, according to his mother. While some students with varying degrees of autism have gone on to college and or/employment, there is still a significant number who struggle. Lisa Ruble hopes that this study will “raise the nation’s capacity to provide services to children and adults with autism spectrum disorder”.

ICare4Autism is incredibly dedicated to the Global Autism Workforce Initiative, which focuses on the importance of creating Autism-friendly workplaces, as well as helping to ease the transition from high school to an employed setting. The next ICare4Autism Conference, which will take place in Washington, D.C., will focus on the challenges individuals on the spectrum have faced in gaining employment, and how companies can give individuals on the spectrum better opportunities by implementing programs that will highlight and utilize their strengths.

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