Autism Speaks Official Blog

 This week’s answer comes from pediatric gastroenterologist, Kent Williams, MD, of Nationwide Children’s Hospital, in Columbus, Ohio—one of 17 sites in Autism Speaks’ Autism Treatment Network.

Many parents of children with autism spectrum disorders (ASDs) report that behavior improves when their children eat a diet free of the proteins gluten and casein. Gluten is found primarily in wheat, barley and rye; casein, in dairy products. Last year, clinicians within Autism Speaks Autism Treatment Network (ATN) investigated the issue and found insufficient evidence of clear benefit.  We called for clinical studies, and these studies are now underway.

While we’re awaiting the results, it’s reasonable to ask what harm could result from trying a casein-gluten-free diet. Certainly, dietary changes can be worth investigating and trying, and many parents report improvements in behavior.  However, until more clinical studies are completed and more evidence of safety and benefit is available, parents who place their child on a casein-gluten-free diet need to take extra steps to ensure they do so in a safe and reliable manner.

First, when parents decide to try a casein-gluten-free diet for their child, I strongly urge them to consult with a dietary counselor such as a nutritionist or dietician. Although it’s easy to find casein-gluten-free dietary plans on the Internet, few parents—or physicians—have the experience and knowledge to determine whether a child’s diet is providing all the necessary requirements for normal growth and development.  Keep in mind that foods containing gluten and casein are major sources of protein as well as essential vitamins and minerals such as vitamin D, calcium, and zinc.

I recommend that parents bring the nutritionist or dietician a 3- to 5-day dietary history for their child (writing down what was eaten and how much) and have this reviewed to determine whether there is a real risk for nutritional deficiency.  The nutritionist or dietician can then work with the family to add foods or supplements that address potential gaps in nutrition.

After establishing a plan for a safe and complete diet, I encourage parents to set up a reliable way to measure their child’s response to the diet. This should start before the diet is begun, with a list of the specific behaviors that the family would like to see improve. Examples might include angry outbursts, inability to sit quietly during class, problems sleeping at night, or not speaking to others.

Next recruit teachers, therapists, babysitters, and others outside the family to help you objectively monitor these targeted behaviors and verify your perception of changes. If you reach a consensus that improvements are occurring, continuing the diet may be worth the cost and effort.

However, one should still question whether the improvements are due to the removal of all gluten and casein from the diet.  The changes might be due to removal of just one of these proteins. For example, some parents report improvement with a casein-free diet, and others report improvements with gluten-free diets.

In fact, the behavioral changes may be due to dietary changes other than the removal of casein or gluten.  For example, the improvement might be due to the fact that the new diet replaces processed foods high in sugar and fat with healthier foods such as whole grain rice, fruits, and vegetables.

These alternative explanations are important to consider because a strict casein-gluten free diet requires hard work and can be costly.  For example, it may be difficult for your child to eat from the menus in a school cafeteria or restaurant. Birthday parties present another challenge. As a parent, you’ll likely be faced with the task of sending or bringing special meals and treats when your child eats away from home.

Autism Speaks ATN continues to support research and clinical improvement endeavors on nutritional and on gastrointestinal issues associated with autism through the HRSA-funded  Autism Intervention Network for Physical Health.

Have a question? Please email us at gotquestions@autismspeaks.org.  Read more news and perspective on the Autism Speaks science page.

 Posted by Clara Lajonchere, PhD, vice president of clinical programs, Autism Speaks

Four years ago, the Autism Speaks Autism Treatment Network (ATN) set out to collect information on the medical concerns of children and adolescents with autism across North America—while delivering the best in evidence-based, comprehensive healthcare and support for these patients and their families.

Through the efforts of hundreds of clinicians across what are now 17 sites, the ATN Registry has now surpassed 4,000 enrolled children. The information gathered from these participating families is providing the global healthcare community with priceless information on the medical conditions often associated with autism spectrum disorders (ASDs) and the best ways to manage them. In particular, such large numbers allow researchers and physicians to better understand and address the great diversity of medical, behavioral, and other quality of life issues associated with autism.

Enrolling our 4,000th family is an important milestone for Autism Speaks, as we continue to expand and support the ATN and its mission of providing the highest quality of comprehensive care by teams of medical professionals who understand ASDs and excel at conducting evidence-based research.

In 2008 and again this year, the ATN earned additional federal funding to operate as the Autism Intervention Research Network on Physical Health (AIR-P)—funding made possible thanks to the passage and recent renewal of the Combating Autism Act. Under the grant, awarded to the Massachusetts General Hospital for Children, the ATN/AIR-P Network continues to develop and conduct research aimed at directly improving the health and well being of children and adolescents with ASDs and other developmental disabilities. Funding is supporting research in areas of highest priority to families and that can have the greatest benefit for children.

As we celebrate the benchmark of the 4,000th enrolled child, we want to again express our deep gratitude for both the commitment of our participant families and the thousands of donors, volunteers, and staff members whose support make this work possible. Thank you for helping us improve the care and respect afforded to all individuals on the autism spectrum.

Posted by Autism Treatment Network Medical Director Dan Coury, MD 

Considerable community and scientific interest has been raised by recent reports that the beta-blocker propranolol improved word use in adolescents and adults with autism spectrum disorder (ASD). It is important to emphasize that this small study does not provide sufficient evidence of effectiveness or safety to support this use of the drug, which is FDA approved to treat high blood pressure. Although we share excitement in seeing medicines evaluated in bona fide clinical studies, families should be strongly cautioned against over-interpreting media reports as endorsement to pursue this treatment for their loved ones–until larger studies show it is safe and effective.

First and foremost, treatment of autism spectrum disorders (ASDs) should include a combination of behavioral and educational interventions. Many children, adolescents, and adults with ASDs also need treatment of associated medical or psychiatric conditions such as gastrointestinal disorders, asthma, anxiety, and symptoms of attention deficit and hyperactivity disorder (ADHD).

While we have strong evidence that our behavioral treatments provide benefit, we need more research on identifying medicines that can help relieve the core symptoms of ASDs and associated behavior challenges. Interest in propranolol began over 20 years ago, with a small study (involving eight adults with autism) that suggested the drug could reduce problematic aggression. In addition, the researchers noted subtle improvements in language and social behavior. They wondered whether this might be related to the known ability of beta-blockers to reduce the symptoms of so-called overarousal. For instance, some musicians and public speakers will take a beta-blocker immediately before a performance to reduce shakiness from stage anxiety.

The authors of that first study called for further research. And the gauntlet was picked up by David Beversdorf, MD, and his associates at the University of Missouri, one of Autism Speaks Autism Treatment Network (ATN) sites. Their latest report enrolled 14 high functioning teens and adults with autism, all of whom used spoken language. They found that, when taking the medicine, some of the individuals used more words over a given period of time. That is, they had greater “word fluency.” On average, the participants showed 25 percent greater word fluency. However, some of the participants spoke fewer words while taking the medication.

What does this mean? These early studies are too small and too limited in their evidence of benefit for us to recommend that adolescents and adults with ASD begin taking this medicine. We know even less about the safety and effectiveness of beta-blocker medications in younger children. As the authors state, further study is needed to confirm both safety and benefits among a wide range of persons with ASD. And if these benefits are confirmed, we need to find ways to identify which people will respond positively to the medication and which will not. Certainly this is not a medication we want to be administering to everyone on the autism spectrum.

These early studies encourage us to pursue further research with propranolol, as we are doing with an increasing number of other medicines that could potentially help relieve the core symptoms of autism–including repetitive behaviors and impaired communication and social behavior. This exciting and encouraging research includes our study of the biological effects and behavioral benefits of both already approved medications and newly developed compounds.

Meanwhile, we have two FDA-approved medications for treating autism-related irritability that includes aggressive behavior and tantrums. They are risperidone and aripiprazole, both of which influence brain levels of the biochemical serotonin. Newer studies are looking at alternative medicines that affect other brain pathways. Early animal research with these compounds has been promising, and studies are now underway in people.

Bottom line: Studies such as Dr. Beversdorf’s are helping us better understand brain function in persons with ASD. This and related studies will ultimately lead us to new treatments and better outcomes. Until then, please stay tuned.

Posted by Andy Shih, Ph.D., vice president of scientific affairs for Autism Speaks

As researchers and parents, we’ve long known that autism often travels with attention deficit and hyperactivity disorder (ADHD). What we haven’t known before is why that is. Also, few studies have examined how ADHD affects the quality of life of those with autism.

In the past month, two studies have come together to help connect our understanding of autism with behavioral issues such as hyperactivity and attention deficit. The first study looked at gene changes in ADHD and autism. The second looked at how frequently parents see the symptoms of ADHD in their children and how seriously these symptoms affect their children’s daily functioning and quality of life.

The upshot of the first study is that the genetic changes seen in children with ADHD often involve the same genes that are associated with autism. This finding helps explain why children with autism often have ADHD symptoms. In other words, if these disorders share a genetic risk factor, it’s logical that they often occur in the same individuals. Genetic insights, in turn, can help scientists understand underlying causes and, so, may improve how we diagnose and treat these issues.

The second study, described in our science news section, helps clarify both how commonly children on the autism spectrum are affected by ADHD symptoms and documents how this affects their daily function and quality of life. Perhaps the most notable observation was that, even though over half of the children in the study had ADHD symptoms that worsened both daily function and quality of life, only about 1 in 10 was receiving medication to relieve such symptoms.

Clearly, we need more research on whether standard ADHD medications benefit children struggling with both autism and hyperactivity and attention deficits. However, studies have long shown that these medications improve the quality of life of many children with ADHD alone. Autism specialists such as Dan Coury, M.D., medical director of Autism Speaks Autism Treatment Network (ATN), recommend that parents discuss with their child’s physician whether a trial of such medications could be of benefit. (Dr. Coury co-authored the second study.)

On a deeper level, this research raises a question: Why is it, given the same genetic changes, some children develop autism alone, some develop autism and ADHD symptoms, and some develop neither—or something completely different?

I and other geneticists have seen how a given genetic change can alter normal development in various ways—if it does so at all. We have good evidence, for example, that outside influences affect how and whether autism develops in those who are genetically predisposed to it. These influences include a variety of stresses and exposures during critical periods of brain development—particularly in the womb and around the time of birth.

Still, by better understanding how altered genes produce symptoms—be they hyperactivity or social difficulties—we gain important insights into how to develop treatments that can improve the daily function and quality of life of those affected.

Ultimately there’s no substitute for working with your child’s physician and behavioral specialist to address your child’s behavioral challenges and needs within the context of your goals and values. To this end, the specialists at Autism Speaks Autism Treatment Network have developed a medication decision aid—“Should My Child Take Medicine for Challenging Behavior?”—available for free download on our website. Please let us know what you think.

This week’s answer comes from two of the clinicians who work within our Autism Treatment Network (ATN) and our Health Resources and Services Administration funded Autism Intervention Research Network on Physical Health (AIR-P). Both helped write the Autism Speaks Toileting Toolkit for parents, which will become available this fall.
Psychologist Terry Katz, PhD, of our Denver ATN Center

and

 Psychologist Amanda Santanello, PsyD, of the Kennedy Krieger Institute ATN Center in Baltimore, Maryland.

Around half of all children with an autism spectrum disorder (ASD) learn to use the toilet later than other children. In the Autism Speaks ATN/AIR-P Toileting Tool Kit due out this fall, we talk about why your child might have trouble and provide tips for achieving success.  Here are some important points:

Toileting Challenges with ASD:
* Physical:  Talk with your doctor about medical reasons that may make toileting more difficult for your child.  These can include constipation, and kidney, urinary tract, or bladder problems.
* Language:  Language delay can make it difficult for a child to ask to use the toilet.  Children may need other methods to communicate their needs.
* Fears:  Your child may be afraid of sitting on the toilet or hearing it flush.
* Body cues: Some children with autism have difficulty sensing the “need to go” and may not realize that their clothes are wet or soiled.
* Dressing: Can your child easily pull up and down his or her pants? This may need to be addressed.
* Need for sameness:  Your child may have developed a habitual way of toileting and, so, may resist doing so “your way.”
* Using different toilets:  Your child may have difficulty toileting in new places—such as school vs. home.

Tips for Parents:
Sit for six:  Set a goal for six toilet sits per day.  Start out slow.  First trips may only last 5 seconds.  Encourage boys to sit to urinate until they regularly have bowel movements on the toilet.
Don’t ask, tell:  Take your child to the toilet and tell them it is time to go.  Don’t wait for them to tell you that they need to go.
Stick to a schedule: Take your child to the toilet at the same times each day. Track when they urinate or have bowel movements and use those times if possible. Otherwise plan toilet trips around your usual routine. And think ahead:  Take your child to the toilet before he or she starts an activity that will be difficult to interrupt.
Communicate: Use the same simple words, signs, or pictures during each trip.  Talk with other people who work with your child.  Everyone on the team needs to use the same toileting communication plan.
Reward: Praise your child for trying. Give your child a favorite treat or reward right after going in the toilet.  Be matter-of-fact when accidents happen.
Consider comfort:  Your child needs to feel safe on the toilet, with feet supported for balance. Also address sensory difficulties your child may have with sounds, smells, lights, or textures in the bathroom.

These are just a few of the ideas we discuss in the forthcoming Autism Speaks ATN/AIR-P Toileting Toolkit.

Please remember: Toileting can be difficult for children with an ASD.  One study found that they needed a year and a half of training, on average, to stay dry during the day and more than two years to become bowel trained. So don’t become discouraged. Be consistent. Build routines. Talk with your doctor. And look for the launch of the Autism Speaks ATN/AIR-P Toileting Tool Kit. We’ll keep you posted here in the blog and on the ATN’s Tools You Can Use section of the Autism Speaks science pages.

The Autism Speaks ATN/AIR-P Toileting Tool Kit is the product of on-going activities of the Autism Treatment Network, a funded program of Autism Speaks. It is supported by cooperative agreement UA3 MC 11054 through the U.S. Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), and Maternal and Child Health Research Program (MCHB) to the Massachusetts General Hospital. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the MCHB, HRSA, or HHS.

Autism Speaks’ Autism Treatment Network (ATN) has competed successfully for another round of federal funding—$12 million—to continue to serve as the Autism Intervention Research Network on Physical Health (AIR-P). Read more in science news at autismspeaks.org…

Autism Spectrum Disorders Webinar  
  September 19, 2011 from 1 to 1:45pm (ET)

The American Academy of Pediatrics Pediatric Care Online is hosting a FREE webinar on autism spectrum disorders (ASD). This webinar will be presented by Autism Speaks Autism Treatment Network (ATN) clinician Patricia Manning-Courtney, MD, FAAP, associate professor of clinical pediatrics, pediatric developmental specialist, and medical director of The Kelly O’Leary Center for Autism Spectrum Disorders, our ATN site at the  Cincinnati Children’s Hospital Medical Center.

Children with ASD are being recognized and diagnosed in increasing numbers. Early identification and treatment is key to maximizing outcome. Parents of children with ASD benefit tremendously from an informed and supportive Primary Care Provider. This webinar will focus on:

• Screening and diagnosis recommendations
• Overview of treatment approaches, including medication
• Review of current controversies

To view the webinar on Monday, September 19, please use the following URL and password:

• Webinar URL: www.talkpoint.com/viewer/starthere.asp?Pres=136861
• Password: pco0919

Additional information and resources related to autism can be found on the Autism Information page of the National Center for Medical Home Implementation Web site.

Dear all,
I hope you enjoy our report on Science Department Monthly Highlights, focusing on major scientific advances and new grants funded by Autism Speaks, as well as the science staff’s media appearances and national/international meetings.  Given the size and scope of our science department, we aren’t attempting a comprehensive report here. If you are interesting in knowing more about activities such as tissue donations, participation in clinical trials, and our research networks (e.g. Baby Sibs Research Consortium), please contact me and our science communications staff at gotquestions@autismspeaks.org.  Enjoy! 

Best wishes,  Geri

  The dog days of August were anything but quiet for the science department. Highlights included the release of the first major report of the Autism Speaks Baby Siblings Research Consortium. The world learned that autism recurs in families at a much higher rate than previously estimated. For perspective and guidance, the national media turned to our director of research for environmental sciences, Alycia Halladay, PhD. Over the course of 24 hours, Alycia made appearances on CNN, MSNBC, and NPR’s “All Things Considered;” was interviewed by reporters for numerous major papers, news services, and magazines; and even found time to answer parents’ questions via live webchat (transcript here)—the first of an ongoing schedule of live chats to be hosted by science department leadership. Geri Dawson, PhD, our chief science officer, wrote a blog that focused on what the new findings mean for parents.

The science department also hosted a two-day Autism and Immunology Think Tank at the New York City office, with some of the nation’s leading thought-leaders in immunology and inflammatory diseases lending fresh insights to aid our planning of research exploring the immune system’s role in autism spectrum disorders. Glenn Rall, PhD, Associate Professor, Fox Chase Cancer Center and member of Autism Speaks’ Scientific Advisory Committee, and Alycia organized and led the meeting which was attended by senior science staff and experts who study the role of the immune system and inflammation in multiple sclerosis, Parkinson’s Disease, Alzheimer’s Disease, Multiple Sclerosis, inflammatory bowel diseases, and brain development.

Here, then, is the science department’s abbreviated rundown of August highlights:

Major scientific publications published this month supported with Autism Speaks funds and resources
* Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study. Ozonoff S, Young GS, Carter A, et al. Pediatrics. 2011 Aug 15. [Epub ahead of print]
* Coming closer to describing the variable onset patterns in autism. Dawson G. J Am Acad Child Adolesc Psychiatry. 2011 Aug; 50(8):744-6.
* Mortality in individuals with autism, with and without epilepsy. Pickett J, Xiu E, Tuchman R, Dawson G, Lajonchere C. J Child Neurol. 2011 Aug;26(8):932-9.

Autism Speaks science staff in the national media
* Alycia gave perspective and guidance related to the results of the Baby Siblings study in The New York Times, Associated Press, USA Today, CNN Health, Time, Healthday, Huffington Post and WebMD; and made related appearances on CNN, MSNBC, and NPR’s “All Things Considered.”
* VP of Scientific Affairs Andy Shih was interviewed by the Philadelphia Inquirer, Parents Express and Education Week about Hacking Autism.
* Alycia was interviewed by Fit Pregnancy about studies on prenatal and early post natal risk factors. She was also interviewed by About.com regarding proposed changes in autism-related entries of next year’s much-anticipated DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, fifth edition).
* Andy and Michael Rosanoff, associate director of public health research, were interviewed by Newsweek for a story about the Minnesota Somali prevalence study.
* Geri was interviewed by Parents magazine for a story about early screening and early intervention.
* VP of Translational Research Robert Ring was interviewed by Discover magazine for a story on the use of mice models in autism research.
* Geri was interviewed by the prestigious journal Lancet regarding autism clusters in California.
* Andy was interviewed by CBS 60 Minutes on innovative autism technology.
* Geri and Simon were interviewed by ABC News on the use of avatars in autism treatment.
* Autism Speaks Global Autism Public Health Initiative continued to generate world headlines, including  this Wall St Journal interview, around its Conference on Autism Spectrum Disorders and Developmental Disabilities in Bangladesh and South Asia, which resulted in the adoption of the “Dhaka Declaration” presented to the United Nations.

Science webchats
* On August 15^th, the science department hosted its first live webchat, with Alycia fielding questions related to the widely covered release of the Baby Siblings Research Consortium’s findings of unexpectedly high rates of autism recurrence in families. Nearly 1,000 live viewers joined the chat and submitted 299 questions and comments. This is the first of an ongoing series of live web chats by senior science staff.

Science leadership at national and international meetings

* Geri, Andy, Rob, Michael, and VP of Scientific Review Anita Miller Sostek attended the treatment grant review meeting in San Francisco, Aug 1-2.  86 applications focusing on developing and evaluating new biomedical and behavioral treatments were reviewed by a panel of scientific experts and stakeholders.  Ann Gibbons, executive director, National Capital Area, offered her expertise as a consumer reviewer on the panel.
* Michael attended the World Congress of Epidemiology, in Edinburgh, Scotland, Aug 7-11. This year’s theme was “Changing populations, changing diseases: Epidemiology for Tomorrow’s World,” and the International Clinical Epidemiology Network Team, which Autism Speaks co-funds, presented on an array of research efforts. In addition, Danish researchers presented data on the increased risk for autism in children with low birth weight and other birth-related conditions.
* Geri and Alycia hosted an Autism and Immunology Think Tank, Aug 22-23, in NYC (described above).
*The Autism Treatment Network leadership held its semi-annual planning meeting in the NYC offices Aug 23-24, with Geri, Clara, Rob, Dr. Dan Coury, Medical Director, ATN, Jim Perrin, MD, Director, Clinical Coordinating Center, ATN, and Nancy Jones attending.
* The science department senior leadership and Mark Roithmayr held a strategic planning meeting with members of its scientific advisory committee in the NYC offices, Aug 24.  Among the advisors attending this meeting were Joe Coyle, MD, Chair, department of psychiatry, Harvard Medical School, Gary Goldstein, MD, president, Kennedy Krieger Institute, Steve Scherer, PhD, director, Centre for Applied Genomics, University of Toronto, and Roberto Tuchman, MD, associate professor of neurology, Miami Children’s Hospital.

*On Sunday, August 28^th, Geri Dawson presented at the Triennial Conference of the Royal Arch Masons, a group that makes a substantial annual donation to support the work of the Toddler Treatment Network.

This is by Staff blogger Rick Kolan, Program Officer with the Autism Treatment Network at Autism Speaks.

Organizations strive to please those they serve, often saying that “the customer is always right.” Striving to meet, and if possible, exceed customers’ expectations is a common business goal. To adequately meet these needs, businesses frequently solicit customer feedback on their products and services in the hope of improving performance.

As Autism Speaks’ Autism Treatment Network (ATN) sees its fourth year, we have taken that concept to the next level. We have engaged families at each of our ATN sites to constitute a Family Advisory Committee. Their role? To provide their perspective and that of their children concerning the care and service they receive at our ATN centers. We have also asked them to help map our direction into the future, providing us ongoing advice on the issues that are important to them now and as their children progress.

Since the beginning of the year ATN sites have been selecting parent representatives and alternates willing and available to attend local ATN site meetings, conference calls and the periodic national meetings of ATN leadership and clinicians. The aim is for the committee to help guide ATN policy and planning at the national level while partnering with their local ATN clinicians to enhance care and services at the individual site.

During the week of June 8-10 the Family Advisory Committee (FAC) met in Washington DC to take part in an ATN/AIR-P Steering Committee Meeting.  The event marked both the kick-off of the ATN/AIR-P Quality Improvement Collaborative and the inaugural meeting of the FAC.

FAC members met for the first time on Wednesday morning.  As representatives introduced themselves around the conference table, it was clear that each brings a unique array of skills and experience. Yet in spite of differences in their backgrounds they immediately found common ground. Each member has a sincere desire to improve care for people with autism, from age toddler to adult, in the belief that the ATN’s commitment to family-centered care is more than simply words.

Even at this initial meeting the FAC provided an important perspective as certain themes repeatedly emerged in the course of open discussion:

1. Aging and ASD

• What will happen to my child as he/she gets older? There is plenty of support while they are young, but parents are commonly at a loss as their children get older.
• Continuity of care across the spectrum, as well as across age groups, is needed.
• Transitions – to adolescence and to adulthood—are especially difficult.
• Families need guidance in advising employers on how to support workers on the spectrum.

1. Affect on family

• Autism is a family diagnosis.
• Autism affects where families choose to live.

1. Transfer of information and knowledge

• Much of the information families get or give is by word-of-mouth
• Messages must be delivered in a way so that parents really understand what certain tests and screenings can and cannot do.
• How do we get information to families that are not directly part our network (families in the “dark spots”)?
• How do we make sure that needed information is available at the primary care and the well-child levels, so that clinicians and families know what to do if the child starts to change?
• The culture at the various resources, including doctors, needs to change; just because a tool kit is out there it doesn’t mean the doctor will use it.

1. Care for the whole-person

• Care is fragmented with different sectors dealing with different aspects of a child’s needs: schools, PCP, speech, early intervention.
• Schools as well as doctors need to see the child as a whole being.
• Schools and doctors need to collaborate on the child’s care. It doesn’t work if the doctor says the child should have certain accommodations or support and the school doesn’t work to make that happen.

1. A key Challenge

• What can we do when we develop effective therapies or other solutions but families cannot afford them and insurers won’t pay for them?

This first FAC meeting demonstrated the group’s potential for generating practical ideas that will keep the ATN focused on the family as we move forward.

Gastrointestinal (GI) problems affect many children and adolescents with autism spectrum disorders (ASD). Access to rigorously studied treatments for medical conditions such as GI is a major unmet need for families. The Autism Speaks Autism Treatment Network (ATN) provides experts in the care and management of GI problems for these children and engages in clinical research. However, the underlying nature of GI dysfunction in ASD and its relationship to etiology and ASD symptoms are still poorly understood. This information is critical to developing better and more targeted treatments, so both clinical and basic research in this area is needed.

Given the importance this issue, Autism Speaks has recently announced a major Suzanne and Bob Wright Trailblazer Award for research into the biological mechanisms of GI disorders in ASD. (Read a press release about the award). The new study brings together innovative and cutting-edge pilot projects that form a new synergistic and coordinated effort. The connections between irregular bowel movements, gut barrier function, gut bacteria, immune function, and abnormal behavior have as yet not been investigated in ASD. This Trailblazer Study will examine these potential links.

We were privileged to have a chat with one of the key investigators on the study, Dr. Alessio Fasano, pediatric gastroenterologist at the University of Maryland School of Medicine (UMDSOM). He is professor of Pediatrics at UMDSOM and Director of the Center for Celiac Research and for the Mucosal Biology Research Center.

Autism Speaks: How many children with ASD are affected by GI disorders, and what are the most common problems they suffer from?

Dr. Fasano: The impact of GI problems in children with ASD is difficult to quantify since some of the symptoms, like stomachache or abdominal discomfort, cannot be communicated by nonverbal or minimally verbal children. For this reason, the percentage of ASD children suffering from GI symptoms reported in the literature varies from 9% to 90%. The most common GI symptoms include chronic constipation, stomachaches with or without diarrhea, and underwear soiling. Disturbed sleep patterns and nighttime waking also have been described as possibly secondary symptoms to gastroesophageal reflux (GERD).

Autism Speaks: Why is it important to study GI disorders specifically in children with ASD? Don’t we already know how to treat GI disorders in children?

Dr. Fasano: ASD is comprised of a mixed bag of different cases that share the behavioral description typical of ASD. In other words, ASD might be the “final destination,” but the route to get there can vary from individual to individual. Some children may reach their ASD destination through the “GI route,” meaning that it is possible that their GI disorders can lead to ASD in genetically susceptible individuals. By studying GI disorders specifically in children with ASD, we are not simply trying to develop methods for a better management of GI symptoms. Rather, we have a much more ambitious goal: We are trying to understand the underlying physiology of ASD; we are trying to “walk the same route” that these children took to arrive at their ASD “final destination.” By doing so, we hope to help them turn around and walk back from that ASD destination.

Autism Speaks: Please describe the study briefly in your own words.

Dr. Fasano: We believe that a few things are key ingredients of the ASD recipe: 1) Genetic predisposition (as suggested by twin studies); 2) Environmental triggers (nutrients, metals, additives, oxidants, to name just a few); and 3) An impaired gut barrier (leaky gut). Our studies will attempt to connect the dots among these three elements by 1) establishing whether the composition of intestinal bacteria in children with irregular bowel movements is different in ASD and non-ASD children and 2) whether this difference activates specific metabolic pathways leading to an immune response causing inflammation and, consequently, behavioral changes in genetically susceptible individuals. We will integrate our clinical studies in ASD children with a mouse model of autism, not only to validate our clinical findings but also to explore the possibility of specific interventions to modify the gut bacteria in order to alleviate the ASD-related behavior.

Autism Speaks: If our ultimate goal is to find appropriate treatments for GI disorders in children with ASD, why spend so much effort on studying the biology of the GI dysfunction?

Dr. Fasano: It is my humble opinion that a better understanding of the biology of GI dysfunctions that afflict many ASD children is the key to unbundling the  complicated path that brought them to ASD. By answering some of these fundamental questions, we can follow the “bread crumbs” that they  left behind during the journey toward their ASD final destination.

Autism Speaks: What are the top three things that we will be able to learn from the study?

Dr. Fasano: We will be able to answer the following three fundamental questions:

1. Is there a specific composition of “bad bacteria” that can lead to a leaky gut and inflammation, and consequently, to ASD in genetically predisposed children?
2. If this is the case, do these bad bacteria activate specific metabolic pathways so that we can search for metabolites that can be used as biomarkers (i.e., red flags) indicating that they embarked upon a journey that led to ASD?
3. Can we manipulate the bacterial composition in the gut of children with GI disorders in order to correct the leaky gut and inflammation (by monitoring the disappearance of the metabolic biomarkers) and consequently, improve their behavior?

Autism Speaks: What are some signs that families and their doctors can look for if they think a child has a GI problem?

Dr. Fasano: Besides the obvious signs and symptoms (diarrhea, constipation, and underwear soiling), specific behaviors may point toward GI problems, including vocal behaviors (screaming, frequent clearing of throat, tics, swallowing, sighing, whining, moaning, etc.), motor behaviors (unusual posture, pressure on the belly, wincing, constant eating, gritting teeth, etc.), and/or changes in the overall state (sleep disturbances, non-compliance with requests that typically elicit proper response, increased irritability, etc.).

Autism Speaks: What can families do now if they think their child has a GI problem?

Dr. Fasano: If GI problems are suspected, families should be referred to a pediatric GI specialist familiar with ASD-related GI disorders. One thing to avoid is undertaking any conventional or unconventional remedy to solve their child’s GI issues without medical advice. Any intervention will complicate the interpretation of the underlying GI problems and, therefore, complicate the proper management needed to alleviate the child’s discomfort.