Tuesday, January 9, 2018

CAR Researchers Zero in on Genetic Risk Factors for ASD



Genetics or Environment? It’s a familiar debate that plays out as scientists search for the causes of most health conditions. Autism is no stranger to this debate, and research has shown the answer likely lies in the middle – where genetics and environment both contribute to the diagnosis of autism spectrum disorder (ASD). ASD is considered a complex genetic disorder because even though numerous sibling studies have shown that genetics contribute to ASD, not all identical twins have ASD; researchers know that something else is involved in the development of ASD for many individuals. Early findings from a recent CAR study zero in on a specific region of DNA that may be particularly important to ASD.

ASD is considered a complex genetic disorder


In most cases, it’s difficult to identify a specific genetic change that caused person to develop ASD; however, scientists have been able to identify a clear genetic cause in a small proportion of cases. These can be chromosomal abnormalities, changes in single genes, or copy number variants (gene deletions and duplications). As scientists continue to pinpoint which chromosomes and genes may play a role in autism, they have discovered that least 5% of individuals with ASD carry what’s known as a “copy number variation” (CNV) in their DNA. A CNV is a deletion or duplication of a small section of DNA. When a person has a duplication, they have an extra copy of that section of DNA- including all of the genes in that section; and in the case of a deletion, a person is missing a copy of a DNA section - along with the genes it would contain.

One genetic condition known as 22q11.2 Deletion/Duplication Syndrome (DS/DupS) has been closely tied to autism spectrum disorder. About a fifth of people with a 22q-related syndrome also meet gold standard criteria for an ASD diagnosis (14-25% of those with a duplication, and 18% of those with a deletion). The usual deletion or duplication of 22q11.2 involves approximately 50 genes.

In a recent study, CAR researchers sought to understand which of these genes in particular might be responsible for the increased rates of ASD. To do this, they enrolled 46 patients with “nested” deletions or duplications of the 22nd chromosome, meaning that instead of the deletion/duplication affecting all 50 genes, a smaller portion of genes were involved for these patients. For example, some people were missing approximately the first 25 genes (the LCR-A to LCR-B region), while others were missing the last 25 (LCR-B to LCR-D region) or the last 15 genes (LCR-C to LCR-D). Some of the patients had ASD and some did not. Caitlin Clements and her team discovered that among the 25 patients with a 22q11.2 deletion, all of the patients with ASD were missing a very specific region of DNA: the first 25 genes (the LCR-A to B region). In this study, when a patient’s deletion did not involve any of these first 25 genes, they did not have ASD. “This is exciting because we narrowed the ASD-risk region from approximately 50 genes to around 25,” said Clements. “If we can replicate these findings in another study, then we would suggest that future genetics research should include studies of these 25 genes to determine which ones are contributing to ASD.” This study also found that in people with a nested deletion on the A-B region, the risk of having other conditions, such as heart, hearing, mental health or gastrointestinal disorders, seemed to be similar to people who had 22q11.2 but not a nested deletion (or duplication).

Since 22q.11.2 Deletion/Duplication Syndrome with a nested deletion on the A-B region is an extremely rare diagnosis, this study needs to be reproduced. “Families came from other states to participate, and we are very grateful because this new knowledge would not exist without them,” said Clements. Clements suggests future research should “focus on the relationship between ASD and genes in the A-B region” of 22q11.2.

For clinicians, this study confirms that patients with a nested 22q11.2 deletion or duplication should receive the same screening and recommendations as patients with a classic, larger 22q11.2 deletion or duplication. Previously, there were no screening recommendations specific to patients with nested 22q11.2Dup/DS. For families with a child diagnosed with this rare nested deletion, this study provides information on what to possibly expect for their individual child’s condition, instead of basing their expectations on information about a slightly different condition.

For readers interested in learning more, please visit the CAR Autism RoadmapTM to read about the genetics of ASD and about ASD diagnosis and other genetic conditions. If your family is interested in being a part of the largest-ever study of the genetics of autism without ever leaving home, learn more about the SPARK study here: SPARKforautism.org/CHOP.

Thursday, November 16, 2017

Members of the Lonely Hearts Club?

Girls with autism may "mask" their symptoms,
making it appear as if they "fit in", but leaving them lonely.

Autism experts speculate that one of the many complicating aspects of diagnosing autism in girls and women may have to do with the way boys and girls are socialized differently. Nearly from birth, parents and other caregivers encourage girls to seek out social interaction, to smile, to be polite and socially accommodating; while in many cases, it’s more acceptable for boys to be more independent, defiant or less socially engaged. This increased attention to girls’ social development may lead them to work harder to “fit in”. The ability to act the part can often “mask” or “camouflage” their internal feelings. In other words, girls with autism are encouraged to follow norms of being friendly and outgoing while also attempting to cope with social difficulties.

Masking of symptoms could have far-reaching effects for females with ASD. Not only could it make diagnosis challenging, it may eventually lead to challenges with friendships and intimate relationships later on in life. In her research on autism and relationships, Dr. Laura Graham Holmes, a post-doctoral fellow at the Center for Autism Research, has found some gender differences. Women with autism are more likely to be in romantic relationships compared to males with autism, but the reasons why are not yet known. Despite this, women still experience high rates of loneliness consistent with those reported by boys and men who have autism, suggesting that these relationships are not providing all of the social support that people need to feel healthy and happy. “Finding romantic partners and maintaining healthy romantic relationships is an important facet of adulthood for most people and can be challenging for anyone. Considering how women on the autism spectrum report that it can be difficult to navigate relationships, including how to avoid “red flags” and remain safe, we need more research on how to support women as they pursue fulfilling sexual and romantic relationships,” says Dr. Holmes. In light of recent research on the substantial impact of loneliness on longevity in the general population, these higher rates of loneliness in women with autism poses concerns for their overall quality of life.

Dr. Holmes is currently conducting a sexuality and relationships for women on the autism spectrum (ages 18-40 years) and their parents. Click here if you are interested in participating. To learn about additional opportunities to participate in CAR research, please visit www.centerforautismresearch.org/enroll.

Um, Uh,… Unmasking Autism

New research on speech fillers such as "um" and "uh"
reveal sex-based differences in autism presentation.

In everyday conversation, speech fillers convey social context, filling normal pauses in speech and indicating whether a pause will be short, using “uh”, or longer, using “um”. Sex, age, and education also influence the use of “um” and “uh”- where women, younger people, and those with higher levels of education use “um” more frequently, and “uh” is more commonly uttered by men, older individuals, and people with fewer years of formal education.

As an expert in linguistics and autism, Dr. Julia Parish-Morris knew that previous research found that children with ASD tend to use speech fillers, specifically “um”, less frequently than their peers with typical development. However, no research had been done about whether the use of “um” and “uh” by females vs. males carried over to individuals with autism. Understanding this would provide a small – but telling - insight into social differences in boys with ASD compared with girls with ASD.

Dr. Parish-Morris and her team analyzed conversations from 49 boys and 16 girls with autism aged 6-17 years old and compared them to conversations with typically developing children of the same age. Dr. Parish-Morris’ research showed a subtle, but important, finding: while boys with ASD use “um” fillers less than frequently than their typically developing counterparts, girls with ASD used “um” nearly as much as girls with typical development.

“The findings of our study don’t conflict with prior research, but they did show that the previous findings were valid only for boys with ASD, and not for girls,” explained Parish-Morris. “In fact, along with other recent behavioral research on sex based differences in gesturing, these findings suggest some girls with ASD may adopt subtle gender-typical language patterns that may effectively ‘camouflage’ their social communication difficulties. This reinforces the idea that we need to find more accurate and appropriate ways of identifying these core symptoms in both boys and girls.”

Examining the use of ‘um’ and ‘uh’ is a small example of how established findings about ASD may differ for girls and boys. However, the implications are dramatic: what other assumptions are we making about girls with ASD, based on research done primarily in with boys?” said Dr. Parish-Morris.

The Center for Autism Research has many studies open to individuals of all ages- with and without autism. To learn how you can help us advance the science of autism, visit the Enrollment page on the CAR web site.

The Whys of Gender Disparities in Autism

Researcher seek answers to why are females less likely
to be diagnosed with autism than males

1 in 68 children are diagnosed with autism (ASD), but research tells us that females are less likely to be diagnosed than males (1 in 189 vs 1 in 42). In recent years, scientists have begun to ask why this disparity exists. Is it genetic? Does autism present differently in females? Do females “mask” their symptoms more than their male counterparts? And if so, why?

As researchers set out to determine why the rates of ASD differ in males and females, they find themselves grappling with additional questions: are the tools used to diagnose autism more sensitive to symptoms in males? If the diagnostic tools miss the symptoms of autism in females, how can researchers enroll proportionate numbers of females into studies to determine if in fact autism occurs at different rates?

While science grapples with these questions, The Center for Autism Research’s Medical Director, Dr. Susan Levy, stresses the importance of universal autism screening for toddlers and “having primary care physicians and non-autism physicians, comfortable in making a diagnosis, or suggesting a diagnosis may be probable” as the necessary first steps towards a more complete understanding of autism.

The Center for Autism Research has many ongoing studies and is looking for self-advocates of all ages and their families to help us advance the science of autism. For those interested in participating, visit the Enrollment page on CAR’s website for more information.

Thursday, November 2, 2017

CHOP and Floreo Awarded $1.7M NIH Grant to Test Whether VR can Improve Police Safety in Individuals with ASD

The Small Business Technology Transfer Fast-track award will fund new pilots with Children’s Hospital of Philadelphia’s Center for Autism Research.

WASHINGTON, OCTOBER 31, 2017 – Floreo Inc., a venture backed tech startup developing virtual reality-driven autism therapy, today announced it has been awarded a Small Business Technology Transfer (STTR) Fast-track grant from the National Institutes of Health (NIH) to test “Immersive Virtual Reality as a Tool to Improve Police Safety in Adolescents and Adults with ASD.” The project will be undertaken in partnership with the Children’s Hospital of Philadelphia’s Center for Autism Research (CAR), one of the country’s leading autism research organizations. Through the Fast-track grant, NIH awarded Floreo $1.7 million, with $289,000 to be applied to the recently started Phase 1 of the pilot.

The Floreo study will test a virtual reality
intervention for autism
Floreo’s virtual reality application provides immersive and engaging therapy intended to help individuals with ASD build real world skills. If proven effective, the application would be an affordable supplement to traditional therapy that is fun and engaging for the user, while allowing a supervising adult to monitor and guide the activities.

“This NIH grant will be critical towards testing the efficacy of VR as a science-backed tool for helping individuals with ASD,” says Vijay Ravindran, Chief Executive Officer of Floreo. “Recent events have raised awareness regarding the urgent need to help these individuals develop important social skills, such as how to interact with police officers. We are excited and grateful for the opportunity this grant will provide us to help this important community.”

“We know that practicing social interactions and a range of appropriate responses is an important support for people with ASD, who can become overwhelmed and freeze up more easily in unfamiliar social situations,” explained Dr. Julia Parish-Morris, Co-Investigator at CAR. “Floreo’s virtual reality application gives us a unique and important opportunity to help individuals practice critical interactions that will help them stay safe and increase their ability to live independently in their communities.”

The police safety pilot will begin testing this fall.

About Floreo Inc
Floreo is an early stage startup founded by Vijay Ravindran and Vibha Sazawal. Its application, which is currently in a pilot phase with various clinical-facing institutions, delivers safe, immersive, fun and affordable autism therapy through the power of virtual reality. The company is based in Washington DC. Find out more at http://www.floreotech.com

About the Center for Autism Research (CAR) at Children’s Hospital of Philadelphia
CAR is a multidisciplinary research center of the Children’s Hospital of Philadelphia (CHOP)with a three-part mission to discover the causes of autism in order to develop better treatments, support families affected by ASD, and provide world-class training for the next generation of master clinicians and scientists. Find out more at http://www.centerforautismresearch.org.

Wednesday, October 11, 2017

Combining Gaming + Biofeedback to Help Children with Autism Improve Social Skills

In a newly-launched gaming study, CAR researchers are incorporating biosensors to detect symptoms of anxiety in children as they engage in a space-themed 3D video game designed by BioStream Technologies, LLC, to improve eye contact and emotion recognition in children with ASD.

CAR researchers partnered with BioStream Technologies
to develop a video game to help kids with ASD

“We know that making eye contact during social interactions can cause a great deal of anxiety for many people on the autism spectrum,” explains John Herrington, PhD, the CAR psychologist leading the study. “The goal of this study is to evaluate the feasibility of using a video game as an intervention to teach children with ASD how to recognize and respond to social cues and emotions. If so, children with ASD could have access to an affordable and easy-to-use tool to build and maintain relationships, learn in traditional school settings, and even live independently.” 


Dr. John Herrington
The BioStream study is enrolling children with and without ASD, between the ages of 5 and 16. For more information about the study, please visit the Center for Autism Research’s Enrollment page or download the study’s informational flyer.  

A Prescription for Gaming to Treat ADHD?

A Prescription for Gaming to Treat ADHD?

From the humble beginnings of Pac Man and Donkey Kong to the faster-paced days of MarioKart, and now to the advent of Angry Birds and Pokemon Go!, children can enjoy the thrills of video games anyplace, anytime. For better or worse, gaming is everywhere, and becoming more sophisticated by the year. But a doctor-prescribed videogame? It may not be as far off as you’d think. Imagine an engaging iPad-based game that helps children improve their attention. One that has cutting edge graphics that rival commercial video games. 

Can video games and virtual reality help
children improve symptoms of autism?

A Wall Street Journal article recently explored the burgeoning field of gaming for health, and that’s exactly the aim of a study being led by CAR’s Dr. Benjamin Yerys. He is the principal investigator for a study testing of Project: EVO, a state-of-the-art video game designed by Boston-based Akili Interactive Labs, as an intervention for children with a dual diagnosis of autism and attention deficit hyperactivity disorder It’s a fun and challenging game to play in and of itself, but this is no ordinary video game- If successful, their game would be the first to be approved for medical use by the FDA, to improve attention in children with autism and ADHD. 


Dr. Benjamin Yerys
“Fewer children with ASD and ADHD diagnoses respond to medications for ADHD than what we see in children with ADHD,” explains Dr. Yerys, “so it is important to test if creative approaches to new interventions can help improve attention for this group of kids. Our team has just completed a pilot study to determine if Project EVO was acceptable and feasible for children with ASD and their families. We look forward to submitting these results for a conference presentation soon!”

Check out these articles from Buzzfeed and NPR to learn more about Project EVO.

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