Autism Speaks Official Blog

This week’s “Got Questions” answer comes from pediatric psychiatrist Joseph Horrigan, M.D., Autism Speaks assistant vice president, head of medical research.

Vitamin and mineral deficiencies are common among those with autism, and in many cases, they relate to overly restricted eating habits. This is understandable as autism spectrum disorders (ASD) are commonly associated with gastrointestinal problems and sensory issues with food textures and smells. It is also possible that the underlying biology of autism may cause deficiencies in the digestion of certain foods, which could affect vitamin intake. For example, a recent study documented that some children with autism and gastrointestinal disturbances have impaired carbohydrate digestion.

Normal growth and good health depend on the body absorbing and metabolizing the vitamins and minerals that are part of a well-rounded diet. In addition, studies have identified several examples of nutrient deficiencies affecting thinking and behavior – for example, the ability to focus or stay alert in school. Also, nutrient deficiencies such as those involving omega 3 fatty acids may worsen behavioral symptoms such as irritability and hyperactivity. As such, it’s entirely possible that taking supplements may improve such symptoms in some individuals with ASD – especially if the individual has clinical or laboratory evidence of low levels of crucial vitamins, minerals or other nutrients.

In recent years, researchers have looked deeper into how well particular vitamins, minerals and nutritional supplements lessen the severity or intensity of core autism symptoms – namely communication difficulties, social challenges and repetitive behavior. The results of these clinical studies have been mixed.

One recent large study examined the effect of an over-the-counter supplement called Syndion on 141 children and adults with autism, as compared to the effects of a placebo pill. The researchers reported that the product effectively raised levels of vitamins and minerals in the blood. They also showed that it produced no significant side effects during the 12-week study. The study did not demonstrate meaningful improvements in autism symptoms according to three out of the four assessment tools used. It did, however, show modest but statistically significant improvements on a fourth measure (the Parental Global Impressions-Revised questionnaire) in terms of hyperactivity, tantrums and receptive language.

When interpreting the meaningfulness of these results, readers may take note that the two lead authors were also the developers of the commercial product being tested.

Despite the limitations of this study, it raises important questions as to whether vitamins may be helpful in addressing the core symptoms of autism. It is important to continue supporting research that will provide parents and individuals with clear answers about the value of vitamins, minerals and other nutritional supplements in ASD. Autism Speaks is currently funding several projects to this end, including a new study investigating the possible role of carnitine deficiency in some individuals with ASD. (Carnitine is a nutrient used by cells to process fats and produce energy. It is abundant in red meat and dairy products, but some individuals appear to have difficulties absorbing and/or metabolizing it.)

We are also funding an ongoing collaborative project, through five Autism Treatment Network sites, to collect extensive information on the dietary intake and nutritional status of children with ASD.

If you are worried that you or your child may have a nutritional deficiency, supplements may be a good option to consider. It is important that you consult with your doctor about brands and dosages. Supplements vary in quality and potency, and some may have harmfully excessive levels of certain vitamins, minerals or other ingredients.

Explore more of the studies we’re funding through our grant search, and find more news and perspective on the Autism Speaks science page.

This week’s “Got Questions?” answer is from Autism Speaks Chief Science Officer Geri Dawson, Ph.D.

In recent days, you may have read media stories about research showing that typically developing babies tend to switch from eye gazing to lip reading when first learning to talk, but then switch back to focusing primarily on a speaker’s eyes by 12 months. The research report appears online this week in the Proceedings of the National Academy of Sciences.

In reporting their results, developmental psychologist David Lewkowicz and doctoral student Amy Hansen-Tift, of Florida Atlantic University, suggest that this shift in focus may be different for infants who have autism spectrum disorder (ASD) or are at risk for developing it. Taking this idea a step further, they propose that paying attention to how babies shift their focus during their first year of life might help identify infants at risk for ASD – perhaps before other obvious symptoms emerge. To back their idea, they cite previous research suggesting that 2-year-olds with autism tend to look mostly at the mouths of those speaking to them, while typically developing 2-year-olds focus mostly on eyes.

It’s an intuitively appealing idea. But in truth, past studies have not consistently supported this notion that children with ASD focus less on eyes and more on mouths.

It is true that children with autism tend to pay less attention to social actions such as expressions. However, it’s possible that children with autism, like typical children, show a similar pattern of paying more attention to the mouth when they are learning language.

Given that language delays are common among children with autism, one would predict that this language-acquisition period might be prolonged. In addition one would expect that mouth-versus-eyes gaze patterns would vary among children with ASD depending on each child’s level of language skill.

Fortunately, while we don’t yet know whether eye gaze is a reliable predictor of ASD, research solidly supports the usefulness of other signs for screening toddlers. The American Academy of Pediatrics (AAP) recommends that all children receive autism screening at 18 and 24 months of age. One of the AAP’s recommended screening tools is the Modified Checklist for Toddlers, or M-CHAT, which you can access on our website, here. Please also see our Learn the Signs resource page.

Meanwhile, Autism Speaks continues to fund a wealth of research on early screening and diagnosis because evidence suggests that early intervention improves outcomes. You can explore these and other Autism Speaks studies here. This research – like all the resources Autism Speaks develops and offers – is made possible by our families and supporters. Thank you for your support.

For more research news and perspective, please visit our science page.

This week’s “Got Questions?” answer comes from Alycia Halladay, PhD, Autism Speaks director of research for environmental sciences

If you’ve been following autism research in recent years, you have probably read—many times—that familial, or inherited, risk is seldom the whole picture. A few inherited genes are sufficient by themselves to cause autism. But most so-called “autism genes” only increase the risk that an infant will go on to develop this developmental disorder. As is the case in many complex diseases, it appears that autism often results from a combination of genetic susceptibility and environmental triggers.

This is where epigenetics comes in. Epigenetics is the study of the factors that control gene expression, and this control is mediated by chemicals that surround a gene’s DNA. Environmental epigenetics looks at how outside influences modify these epigenetic chemicals, or “markers,” and so affect genetic activity.

It is important to remember that scientists use the term “environment” to refer to much more than pollutants and other chemical exposures. Researchers use this term to refer to pretty much any influence beyond genetic mutation. Parental age at time of conception, for example, is an environmental influence associated with increased risk of autism, as are birth complications that involve oxygen deprivation to an infant’s brain.

Because epigenetics gives us a way to look at the interaction between genes and environment, it holds great potential for identifying ways to prevent or reduce the risk of autism. It may also help us develop medicines and other interventions that can target disabling symptoms. We have written about epigenetics previously on this blog (here and here). So in this answer, I’d like to focus on the progress reported at a recent meeting hosted by Autism Speaks.

The Environmental Epigenetics of Autism Spectrum Disorders symposium, held in Washington, D.C. on Dec. 8, was the first of its kind. The meeting brought together more than 30 leaders in autism neurobiology, genetics and epidemiology with investigators in the epigenetics of other complex disorders to promote cross-disciplinary collaborations and identify opportunities for future studies.

Rob Waterland, of Baylor College of Medicine in Texas, described epidemiological studies and animal research that suggested how maternal nutrition during pregnancy can affect epigenetic markers in the brain cells of offspring.

Julie Herbstman, of Columbia University, described research that associated epigenetic changes in umbilical cord blood with a mother’s exposure to air pollutants known as polycyclic aromatic hydrocarbons (PAHs). PAHs are already infamous for their association with cancer and heart disease.

Rosanna Weksberg, of the Hospital for Sick Kids in Toronto, discussed findings that suggest how assisted reproductive technology may lead to changes in epigenetically regulated gene expression. This was of particular interest because assisted reproduction has been associated with ASD. Taking this one step further, Michael Skinner, of Washington State University, discussed “transgenerational epigenetic disease” and described research suggesting that exposures during pregnancy produce epigenetic changes that are then inherited through subsequent generations.

Arthur Beaudet, of Baylor College of Medicine, discussed a gene mutation that controls availability of the amino acid carnitine. This genetic mutation has been found to be more prevalent among children with ASD than among non-affected children, suggesting that it might be related to some subtypes of autism. Further study is needed to follow up on the suggestion that dietary supplementation of carnitine might help individuals with ASD who have this mutation. Caution is needed, however. As Laura Schaevitz, of Tufts University in Massachusetts, pointed out, studies with animal models of autism suggest that dietary supplementation may produce only temporary improvements in symptoms of neurodevelopmental disorders.

So what does this all mean for research that aims to help those currently struggling with autism? The meeting participants agreed that the role of epigenetics in ASD holds great promise but remains understudied and insufficiently understood. For clearer answers, they called for more research examining epigenetic changes in brain tissues. This type of research depends on bequeathed postmortem brain tissue, and Autism Speaks Autism Tissue Program is one of the field’s most important repositories. (Find more information on becoming an ATP family here).

The field also needs large epidemiological studies looking at epigenetic markers in blood samples taken over the course of a lifetime. One such study is the Early Autism Risk Longitudinal Investigation (EARLI). More information on participating in EARLI can be found here.

Autism Speaks remains committed to supporting and guiding environmental epigenetics as a highly important area of research.  We look forward to reporting further results in the coming year and years.

Got more questions? Send them to gotquestions@autismspeaks.org.

Read more autism research news and perspective on the science page.

Today’s “Got Questions?” answer is from Autism Speaks Chief Science Officer Geri Dawson, Ph.D.

Earlier this week, the LA Times ran a provocative article under the questioning headline above. It suggested that autism’s twentyfold increase over the last generation may be “more of a surge in diagnosis than in disease.” In fact, scientific evidence suggests that autism’s dramatic increase is only partially explained by improved screening and diagnosis.

Some of the clearest evidence of this increase comes from research documenting a 600 percent jump in autism caseload in California between 1992 and 2006. In related studies (here and here), Peter Bearman estimated that around 42 percent of the increase can be explained by changes in diagnostic methods and awareness with another 11 percent possibly due to increases in parental age at the time of conception (a known risk factor).

Taking into account all the factors that have been studied, this leaves approximately half of the increase due to still-unidentified factors. Through research, we’re increasing our understanding of these influences. For example, we now know that prematurity and extreme low-birth weight increase autism risk in babies. Certainly survival rates for premature and very low birth weight infants have increased considerably over the last twenty years.

While no single factor is likely to explain the marked increase in autism’s prevalence, researchers agree that a number of influences likely work together to determine the risk that a child will develop an autism spectrum disorder (ASD).

Bottom line: It is undeniable that more children are being diagnosed with ASD than ever before. The need for increased funding for autism science and services has never been greater. Autism costs society is a staggering $35 billion per year. And with more cases, that figure is likely to increase. Fortunately, there is clear evidence that earlier identification and intervention and supports throughout the lifespan can improve outcomes and quality of life.

If you are concerned about your child’s development, please see the “Learn the Signs” page of our website. If you are an adult struggling with issues that might be related to autism, please follow the hyperlinks to our resource page for adults and our page on Asperger Syndrome.

Got more questions? Send them to GotQuestions@autismspeaks.org. And join our next live webchat with Dr. Dawson and her co-host, Autism Speaks assistant vice president and head of medical research Joe Horrigan, MD on January 5^th. More information on their monthly webchats here.

On Thursday, November 10, representatives from the General Chapter of Royal Arch Masons International presented Autism Speaks with a $100,000 Royal Arch Research Assistance (RARA) grant. The generous contribution will help support the Autism Speaks early diagnosis and early intervention initiative to investigate auditory processing disorders in children with autism.

Many of the precursor symptoms of auditory processing disorders are seen in some children with Autism Spectrum Disorder (ASD). These symptoms include trouble paying attention and remembering information; poor listening skills; difficulty in processing information; behavioral problems; difficulty with comprehending language; and anxiety or confusion in social situations. Young children on the autism spectrum who exhibit precursor symptoms may be diagnosed with a central auditory processing disorder (CAPD) at a later age.

The RARA grant will enable Autism Speaks to address precursor symptoms of auditory processing disorders in an effort to create better outcomes for children who are at risk for developing both ASD and CAPD. In addition, the grant will go towards funding Autism Speaks’ efforts to educate healthcare providers and parents about the role of auditory processing disorders in a child’s autism diagnosis as well as encourage further evaluation for young children who demonstrate auditory processing difficult. Autism Speaks will also disseminate and share information developed in this effort with caregivers and clinicians including methods to treat auditory processing problems associated with ASD.

We would like to thank our friends at the Royal Arch Masons for this wonderful grant. Their support will help clinicians gain a better understanding of the early signs of auditory processing disorder in children with autism, allowing for treatment of this disorder to begin as early as possible.

Posted by Brooke Ingersoll, PhD, clinical psychologist, Michigan State University, East Lansing, and the recipient of an Autism Speaks 2011 Treatment Research Grant

We now diagnose autism spectrum disorders (ASDs) between the ages of 2 and 3 years, when symptoms become obvious. But over the last five years, we’ve been actively studying how to identify ASD symptoms in younger children, with the hope that earlier intervention can produce greater improvements in outcomes.

I was recently invited to write a review of these research efforts for the scientific journal Current Directions in Psychological Science. I’m excited to relate these findings to our families and friends as well:

In essence, the evidence is strong that many children who go on to a clear diagnosis of autism are already showing fewer early social and nonverbal communication skills at 12 months than do typically developing babies. These “missing” behaviors including imitating, showing objects to others and pointing to objects or events in the room.

My review of the research also showed clear evidence that targeted therapies can improve these early skills in young children with ASD —and might also produce improvements in other, later-emerging skills such as language and more mature social interactions. Despite these advances, much remains unknown about the early presentation of ASDs and the best way to intervene to improve these children’s outcomes.

While it is wonderful to see that we can identify and help very young children, I feel strongly that we must also increase research and improve therapies for older children with ASD. My current work, recently funded by an Autism Speaks treatment research grant, is evaluating the benefits of an intervention called reciprocal imitation training, designed to increase social engagement in adolescents with ASD and limited language.

With this intervention, we encourage non-verbal social behaviors such as imitation, gestures and eye contact. The intervention is adapted from social communication therapies that have shown success with young children with ASD who have not yet learned language. The early results have been encouraging, and we are very excited to continue this work in an effort to identify appropriate social interventions for older, nonverbal individuals with ASD.

Read more news and perspective on the Autism Speaks Science page.

This guest post is by Caroline McCloskey, a sophomore at UC Berkeley. She is the president and founder of her school’s Autism Speaks U chapter and is a true ambassador for our cause! Autism Speaks U is a program designed for college students who host awareness, advocacy and fundraising events, while supporting their local autism communities.

Helping those with autism has always held a place in my heart. My older brother Joey was diagnosed with autism at a very young age, and has always been my big “little brother.” Joey has a considerably severe case of autism and is often misunderstood because he has difficulty communicating with others. He lives in the world of a six-year old and still watches Disney movies (his favorite being Peter Pan), Sesame Street and Winnie the Pooh.  One of the truly amazing things about my brother is his ability to complete a 500-piece puzzle in twenty minutes – something I would never be able to do. He will never fail to impress me with his unique gift and now that I’ve gone to college and live 6000 miles away from home, I miss him dearly.

Caroline hikes to the big Campanile to raise autism awareness.

Coming to the University of California, Berkeley was by far the best decision I have ever made. As soon as I got here I knew that I wanted to get involved on campus, so I looked into various student organizations and tried to find one that promoted autism awareness or raised money for scientific research. No such club or organization existed. I thought to myself: of all the hundreds of student organizations that Berkeley has to offer, how is it that not a single one addresses the problem of autism, something that affects 1 in 110 people?

Consequently, some friends and I took the initiative and our chapter of Autism Speaks U at Berkeley was officially founded on March 9^th2011. Now we have over 30 active members and have begun to establish a firm presence on campus as of this academic year. The UC Berkeley community has been very supportive of our efforts and during Autism Awareness Month this year we held an awareness campaign and small-scale fundraiser in the Unit 2 Residence Halls. Our biggest achievement so far has been lighting up the Campanile blue on Autism Awareness Day, which we hope to do again in April 2012.

Campanile Lit Up Blue.

Right now we are in the process of planning a benefit concert to be held on November 19, of this year. We are also trying to establish a mentoring program with the Berkeley Unified School District, where members of our chapter would volunteer with children and young adults on the spectrum. Furthermore, we are in the early phases of planning a large-scale walk event on UC Berkeley’s campus, which will be held on April 72012, during Autism Awareness Month.

This year we have a very strong team of officers who are all contributing incredible amounts of time and effort to our cause. It means so much to me that my friends have been so supportive of what I am so passionate about, and I honestly appreciate their help and support more than they will ever know. I know that this year we’re going to go far and it’s all because of them: thank you, guys.

To get involved with Autism Speaks U and/or the UC Berkeley collegiate chapter, contact autismspeaksu@autismspeaks.org.  

Today’s “Got Questions?” response again comes from Simon Wallace, PhD, Autism Speaks director of scientific development for Europe

The U.S. Individuals with Disabilities Education Act (IDEA) requires schools to include children with disabilities in the least restrictive classroom settings that are possible. At the same time, studies show that different levels of so-called “mainstreaming” present different benefits and challenges.¹ And parental preference often varies.² So the first question to ask yourself is “what type of school placement is the best for my child?”

For instance, you have the option of full inclusion, with all classes taught in a mainstream environment, or partial mainstream, with some proportion of classes taught in a more supportive setting. I also encourage parents to keep in mind the potential advantages of a specialist autism school. Making these decisions should always involve a consultation between parents, teachers and the pupil with an autism spectrum disorder (ASD).

Beyond teaching support, we know that bullying and social exclusion affects the mainstream-school experience of many children with ASD. A recent survey estimated that 44% of children with ASD have been bullied.³ Bullying, in turn, can lead to an increased social isolation and mental health difficulties. Another study suggested that the support of classmates is very important to making the mainstream experience a success for the student with autism.⁴

One method for encouraging peer relationships is a technique called Circle of Friends, where the child with ASD is at the center of a peer group. This group periodically works on specific goals. Another method, which avoids such a strong focus on the child, is to work on social skills in private or with a group of other children with ASD.

Of course, teacher training remains pivotal to supporting the success of children with ASD in a mainstream classroom. Federal law requires that teachers make reasonable adjustments to their teaching strategies and classroom environment to accommodate the needs of pupils with disabilities. In particular, teachers should be encouraged to adjust the content and delivery of the curriculum, to consider the sensory needs of the pupil, and to welcome the input of both parents and special-needs students when planning their educational programs.

Here are some useful resources, along with references to the studies I mentioned:

Resources:

1. The Autism Speaks School Community Tool Kit
2. The Asperger Syndrome/HFA and the Classroom chapter of the Autism Speaks Asperger Syndrome and High Functioning Autism Tool Kit
3. Bullying and ASD: A Guide for School Staff (UK)
4. IEPs, iPads and Bullies: 10 Tips from a Dad Who’s Been There, a recent Family Services blog from dad James Vaughan

References:
1. Full inclusion and students with autism. Mesibov GB, Shea V. J Autism Dev Disord. 1996 Jun;26(3):337-46.
2. Parental perspectives on inclusion: effects of autism and Down syndrome. Kasari C, Freeman SF, Bauminger N, Alkin MC. J Autism Dev Disord. 1999 Aug;29(4):297-305.
3. Bullying among children with autism and the influence of comorbidity with ADHD: a population-based study. Montes G, Halterman JS. Ambul Pediatr. 2007 May-Jun;7(3):253-7.
4. Inclusion as social practice: views of children with autism.  Ochs E, Kremer T, Solomon O, Sirota K. Social Development. 2001;10(3):399–419.

Got more questions? Please email us at gotquestions@autismspeaks.org. Thanks.

By: Alycia Halladay, Ph.D., Director of Research, Environmental Health Sciences

As the average age at which early signs and symptoms of autism and diagnosis moves becomes younger and younger, methods for intervening at autism at the earliest possible ages are becoming more widely used. At this year’s IMFAR meeting, several clinicians and researchers addressed differences in design, methods, and identified challenges and potential solutions for delivering intervention from individuals with ASD as young at 10 months of age. Since this is when very early symptoms of ASD can be detected, but not yet diagnosed, many are considering this as a method of prevention rather than intervention. A feasible and cost-efficient way to provide interventions to infants and toddlers is to engage parents and train them to use behavioral techniques to improve development. What works for adolescents and adults does not apply to infants and toddlers. Instead of spending time working on specific tasks and skillsets, clinicians work with parents and provide ongoing support to engage children in social, communication and motor skills during playtime activities. But does this prevent ASD?

The simple answer is that it is very complicated. As reported in an earlier report, one size does not fit all. There may be a number of variables that affect outcome. In addition, last year, a report out of the UK last year reported that parent-mediated interventions did not result in a change in diagnostic status in young children. This same group showed new data at IMFAR this year showing that the intervention was effective in some ways – infants showed increased attention and gestures as well as improved shared interest. These early improvements are thought to lead to a higher level of functioning later on.

Children with ASD suffer from impoverished social interaction, and parents can be instrumental in providing stimuli to their children to change behavior. Most interventions now focus on encouraging parents to actively engage the child using evidence based strategies, in natural environments. Other types of interventions that were used included promoting behaviors and responsiveness in the context of everyday routines.

Given that published research don’t actually prevent ASD, but improve long-term outcomes, is the goal of early interventions to reduce the incidence of ASD? Alice Carter, member of the Autism Speaks Toddler Treatment Network noted that earlier screening and delivery of parent interventions which improve joint attention, and coordinated attention between parent and child – may prevent symptoms down the road, but may not always lead to a change in diagnosis. She stated “working with parents can make a huge difference in many children’s lives.”

Improved outcome measures which are more sensitive to improvements over time on a number of domains need to be developed to better describe these differences. In addition, working with a young child at home is difficult in any situation, and especially for families affected by ASD. Therefore, methods and techniques to maximize the amount of time parents deliver effective interventions are considered a priority. Autism Speaks is proud to sponsor this network in thinking about these important issues.

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Mitochondrial disease is caused by an error in the functioning of mitochondria, which are essential energy-producing compartments of nearly every cell in the body. Certain mutations can cause the mitochondria to function inefficiently. These mutations can be within the mitochondria itself, with its own small circle of DNA, or within the nucleus where the rest of the cell’s DNA resides. Over 1500 genes carry some part of the recipe for the optimal functioning of mitochondria. This means that there are many ways for mitochondria to function imperfectly but there are also complex means available to mask a deficit by altering some of the other protein interactions.

Mitochondria are responsible for the process of oxidative phosphorylation that turns nutrients into energy through a series of stages involving complexes of enzymes. A break at any particular stage results in an atypical balance of metabolites in affected body tissues and fluids.

Most people consider mitochondrial disease to be one of a growing number of disorders caused by a defined set of mutations and presenting with a set of characteristics that typically involve three or more organ systems. However, mitochondrial disorders are often diagnosed when no mutation is found despite observations of metabolic signatures of mitochondrial dysfunction. The symptoms may also be more mild.

We do not have a firm estimate of mitochondrial disease in ASD. However, if we use the broader definition of mitochondrial disorder then according to a population-based study in Portugal, there may be as many as 4% of the ASD population affected. Autism Speaks’ research is addressing this and related questions through a grant to Cecilia Giulivi, Ph.D. at UC Davis and also through a collaborative research project at UC Irvine and UC San Diego.

There is currently no cure for mitochondrial disease or disorder. There are, however, treatments and practices that can improve the quality of life and slow the progression of the disease. The most effective treatments are for specific symptoms that tend to accompany mitochondrial dysfunction such as seizures treated with anti-convulsants. Regular exercise, a healthy diet, stress and extreme temperature avoidance are among the common recommendations. Some dietary and supplement regimes have anecdotal support but there is a need for empirical studies to test the efficacy of these therapies.

For more information, please visit the United Mitochondrial Disease Foundation (UMDF) website. Also, read our report on a joint Autism Speaks’ supported symposium at the annual UMDF meeting.