Tuesday, February 6, 2018

Vegetables are Yucky! Coping with Food Selectivity and Autism

Mealtime and eating can be a significant source of stress for children with autism and their parents. Rigid behaviors and food sensitivities can trap children with autism in a diet lacking variety and nutrition.

Why is picky eating common among
children with autism?


Why is picky eating or "food selectivity" so common among children with autism? There is no single reason, but researchers say aversions to a particular taste, texture, smell or brand of food, gastrointestinal problems, or previous negative experience are among the possibilities.

Finding the right treatment for a child with food selectivity is critical” says Emily S. Kuschner, PhD, a licensed clinical psychologist at the Children’s Hospital of Philadelphia specializing in food selectivity.  Dr. Kuschner developed the Building Up Food Flexibility and Exposure Treatment (BUFFET) program to help youth with autism learn to cope with anxiety and inflexibility around food and mealtimes using cognitive behavioral skills and exposure therapy.
 “The more children can learn to cope with their stress and rigidity about food, the more likely they are to have the skills to try new foods and expand the variety in their diets,” says Dr. Kuschner.

We often think of children and teens with autism as picky-eaters, however, typically developing children are also selective in their food preferences and narrow in their diets. We need more research to determine how, or even if, food selectivity differs between both groups of children”, Dr. Kuschner says. 
Her upcoming study will survey individuals with autism and their parents about their diet and food preferences, with the goal of learning how food selectively (and its impact on daily life) differs between individuals with ASD and their neurotypical peers.

For those interested in participating in food selectivity research, Dr. Kuschner’s collaborator, Dr. Tanja Kral, Associate Professor of Nutrition Science at the University of Pennsylvania, recently received NIH funding to build an exciting, interactive mobile health application (app) to improve nutrition in children with autism who are picky eaters. Children with autism between the ages of 6 and 10, and their parents, are invited to be part of four 90‐min advisory board sessions to provide the team with feedback about the design and functionality of the nutrition app. Compensation will be provided. For more information, please contact Dr. Tanja Kral, Associate Professor of Nutrition Science, at (215) 573-7512 or tkral@nursing.upenn.edu.  


For individuals and families struggling with food selectively:

Autism and Mealtime: A Therapist's Top 10 Tips for Success

Ready! Set! Go! Benefits of Physical Activity for Individuals with Autism

From maintaining a healthier weight to supporting mental health, the benefits of physical activity are well-documented, but can be difficult to fit into packed schedules. Participation in sports activities helps children meet the recommended minimum requirements for physical activity, but research finds that children with autism are 74% less likely to participate in sports and 60% less likely to be physically active overall. Challenges with social context and physical coordination may cause children with autism to shy away from sports and team-based physical activities.

Physical activity provides and clear and important benefits
to overall health and well-being.

Even if increasing physical activity does not result in weight loss, it provides clear and important benefits to overall health and well-being. Interested in studying the psychological benefits of physical activity in children with autism, Joseph McCleery, PhD, a developmental psychologist at the Center for Autism Research (CAR) at Children’s Hospital of Philadelphia (CHOP), says,
Physical activity alone is not likely to reduce weight in the short-term, and it’s not nearly as important as diet. In our intervention in school aged children, we looked at emotional functioning and executive function.  We wanted to see how their thinking, ability to switch attention, and plan would change. We also wanted to see if physical activity had an effect on their mood, stress and anxiety.” 
Dr. McCleery’s team found that exercise was associated with short-term improvements in cognitive performance, as well as both short-term and long-term improvements in mood, stress, and anxiety.

In collaboration with CAR postdoctoral fellow Laura Graham Holmes, PhD, and Dr. Christopher Cushing from the University of Kansas, Dr. McCleery just began work on a new study that capitalizes on the popularity of activity trackers and text messaging to understand how exercise, sleep, and eating affects mood in individuals with autism.  He will be enrolling individuals with ASD ranging in age from 12-60 years old.

If you are interested in learning more about this study, visit the Enroll page on CAR’s website.


For individuals and families looking for ways to incorporate more physical activity, check out the CAR Autism Roadmap (TM) article: Choosing a Sport for Your Son or Daughter with ASD

Obesity is a weighty issue for children with autism: but why?



For more than a decade, public health advocates have been concerned by the increasing rates of obesity in both children and adults. In fact, 1 in 6 children in the United States are considered obese. Overweight and obesity are tied to many serious chronic health issues, including heart problems, diabetes, and depression. Only recently have doctors and researchers begun to look at overweight and obesity specifically in children with autism - and they were astonished with what they found. 

Children with autism are two times more likely to be overweight and 5 times more likely to be obese

After this discovery, the questions came fast and furious: What’s going on? Why are children with autism at such high risk? What are the risk factors? What can be done now to prevent and treat it?

More research is needed, but researchers have identified a few possible factors which may lead to a child or teen with autism gaining excessive amounts of weight. Certain metabolic, hormonal, and genetic factors that are common among people with ASD can lead to excessive weight gain. For older children and teens, certain medications can play a role in being overweight and in excessive weight gain. Rigid preferences around food types (which may be high calorie) and difficulty eating a varied diet can factor into concerns about excessive weight gain. Inadequate physical activity and poor sleep patterns are additional factors which may affect rapid weight gain for children with autism.

CAR's Medical Director Susan E. Levy, MD, MPH, and her team at CHOP and the University of Pennsylvania are currently studying the relationship between weight and severity of ASD symptoms.

Susan E. Levy, MD, MPH,
Medical Director at CAR
Obesity is emerging as a very important area of research within the autism community,” says Dr. Levy.  “We need research to fully understand the scope of the problem of obesity in individuals with autism, and what role physical activity and food selectively play in both obesity and interventions to reduce weight and improve overall well-being.”

The Simons Foundation's Spectrum News blog recently published an in-depth article summarizing the state of the science on weight and autism. To read more, click here.

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.