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.
Research has taught us that there’s no simple explanation for what causes autism. We know that genes play a role, but they aren’t the whole picture. Environment also matters.
However “environment” can be a tricky term, as pediatrician Perri Klass recently noted in her New York Times column. In autism research, we use the word to refer to pretty much any influence beyond inherited genes—not just exposure to pollutants or other toxic chemicals.
In fact, the environmental factors that research most strongly links to autism are influences such as maternal infection during pregnancy (especially rubella), birth complications (especially those involving oxygen deprivation), and parental age at time of conception (dad as well as mom). Parents who wait less than one year between pregnancies may be at a slightly higher risk for having a child with autism. (Conversely, there is strong evidence that mothers who take prenatal vitamins before conceiving reduce the odds that their children will develop autism.)
Clearly, countless fetuses and babies are exposed to “environmental risk factors” such as these without ever developing autism. But if a child is genetically predisposed to autism, it appears that these influences further increase the risk. For this reason, we say that environmental factors increase the risk of autism rather than cause it.
Research has suggested that many other environmental, or nongenetic, factors may increase the risk for autism. But scientists can’t yet say whether these involve direct (versus coincidental) links. Such factors include a pregnant woman’s exposure to certain chemicals such as pesticides and phthalates (commonly found in plastics) or certain drugs such as terbutaline (used to stop premature labor), valproic acid (to control seizures), and some antipsychotics and mood stabilizers. Of course, in the case of medications, any possible increased risk of autism must be balanced against a woman’s medical needs—which can likewise affect the health of her pregnancy and children.
In addition, most environmental factors associated with autism appear to increase risk only slightly and only in combination with other factors such as genetic predisposition. So it is difficult, in most cases, to pinpoint any one environmental influence. For these reasons, Autism Speaks continues to fund research on a wide range of environmental risk factors. Importantly, the more we learn about how these influences affect brain development, the better we can help the children, adults and families who are affected by autism.
Want to learn more about the research Autism Speaks is funding? On our Science Grant Search page, you can browse studies by topic and location. Finally, if you or your child is affected by autism, please consider participating in one of our clinical studies. Thanks, and please keep sending us your questions.
Post and photos by Michael Rosanoff, MPH, associate director public health research & scientific review
Through the Global Autism Public Health Initiative, our aim is to empower local communities to seek out and protect the human rights and public health of their fellow citizens with autism. This includes cultivating more compassionate societies by enhancing autism awareness, building autism health services to improve access to early diagnosis and intervention, and improving scientific understanding of the prevalence and causes of autism around the world. None of this can be accomplished without collaboration, and every part of this mission can yield benefits to communities beyond those where the efforts are taking place.
In an extraordinary demonstration of collaboration, government representatives from eleven South Asian countries participated in the Conference on Autism Spectrum Disorders and Developmental Disabilities in Bangladesh and South Asia and unanimously adopted the “Dhaka Declaration” to the United Nations.
While the Dhaka Declaration provides a roadmap for cooperative autism activities in South Asia, its implications reach far beyond the region. Whether it is written in English or Bangla, whether you are reading it here in the US or abroad, the language is universal and the message is clear–together we can change the future for all who struggle with autism and developmental disabilities.
Below are selected excerpts from the Dhaka Declaration, accompanied by some of the images I captured while visiting schools, hospitals, and centers for individuals with autism and developmental disabilities in Dhaka City and its rural outskirts. It is my hope that the following will shed new light and offer a clearer perspective on why the global work that Autism Speaks supports is critically important, not only to autism communities in Bangladesh and South Asia, but to the global autism community as a whole. It is my hope that these words and these images touch you as they touched me.
Concerned that, despite increasing evidence documenting the effectiveness of early interventions in improving the overall functioning of the child and long-term outcomes, children and families in need often have poor access to services and do not receive adequate treatment and care …
Deeply concerned at the prevalence and high rate of autism in all societies and regions and its consequent developmental challenges to long-term health care, education and training as well as its tremendous impact on communities and societies…
Recalling that children with developmental disorders and their families often face major challenges associated with stigma, isolation and discrimination as well as a lack of access to health care and education facilities…
Inspired further by a vision that all individuals with autism and developmental disorders ought to receive adequate and equal opportunities to enjoy health, achieve their optimal developmental potential and quality of life, and participate in society…
(We) Adopt this Declaration with the objective of promoting stronger and coordinated actions in the region and globally towards the improvement of access and quality of health care services for individuals with autism and developmental disorders.
I thought you might enjoy seeing a few highlights from Andy Shih and Michael Rosanoff’s recent efforts in Bangladesh. This is a country where resources are very low, and there is a great need to protect the rights and improve the treatment of people with autism. Yet despite few resources, this country is stepping up to improve services for all people with autism in their country. Saima Wazed Hossain from Bangladesh remarked at a recent United Nations meeting that, if Bangladesh can tackle the challenges of autism, any country can. Indeed, it was Bangladesh that co-sponsored the UN conference that brought together leaders from many countries, the WHO, and key White House staff to focus on the needs of people with autism.
Andy and Michael, with the help of several experts from the US, are providing technical assistance and helping galvanize the Bangladesh government and other leaders to improve the lives of people with ASD. What is noteworthy is that this effort requires very little in terms of money from Autism Speaks but can have a transformational effect on an entire country.
Geri Dawson, Chief Science Officer
Autism Conference Ends with High Hopes
The landmark autism conference ended in the city yesterday as its chief architect, Saima Wazed Hossain, hoped that the two-day meet would generate new hopes among the families in and outside the country. Read more …
Call for quality healthcare for persons with autism
An international conference on Autism Spectrum Disorders and Development Disabilities in Bangladesh and South Asia adopted the “7-point Dhaka Declaration,” with a call for promoting stronger coordinated actions in the region and globally. Read more …
Autism Meeting Ends with ‘Great Response’
The two-day international conference on autism concluded on Tuesday with pledges from the World Health Organization to support Bangladesh in autism care. Read more …
This month has been a tremendously exciting time in autism research, as our blog posts make clear. Naively, I’ve been waiting for a pause in the torrent of news to introduce myself. That’s not looking likely, so allow me to shoehorn a quick intro—and a couple questions for you.
Three weeks ago, I stepped into the newly created position of Autism Speaks’ director of science communications. It’s now my privilege to suds and squeegee your window onto the science that donor dollars are funding. I’ll also be enlisting our science staff to answer your questions and generally provide perspective on some of the splashy—and sometimes confusing—headlines in the national news.
By background, I’m a science journalist and medical writer. For the last 20 years, I’ve been a regular contributor to national magazines such as Discover, Popular Science, Parents, Parenting, and Prevention. I’ve also written a few science books for the general reader, the most recent being Good Germs, Bad Germs.
The science staff at Autism Speaks has always been passionate about communicating with families affected by autism and with everyone who cares about enhancing the lives of the remarkable individuals on the spectrum. I’m here to facilitate their conversation with you—in both directions.
Perhaps you’re a volunteer and want resources that can help you explain the nature and importance of the research we fund. Perhaps you have a child affected by autism and would consider participating in research. Perhaps you are a parent who is looking forward to answers and new treatment approaches that will help your child. Or perhaps you are a high-functioning teenager, college student, or other adult on the spectrum and want to know more about studies that relate to you (the link goes to just one example).
In whatever way you’re comfortable, we want to involve you in our scientific mission: To improve the lives of all who struggle with autism. To that end, I’d love your input on some of the new avenues of communication we’re considering. Would you please take a moment to answer our two-question survey? Please feel free to provide additional feedback in the comments section. Thanks!
Fifty years ago, researchers discovered elevated levels of serotonin in the blood of children with autism. What would it mean to our understanding of autism if serotonin—a highly active neurochemical—was also increased in the brain?
In 1961, Schain and Freedman reported that about 40% of autistic children are born with high circulating blood levels of serotonin. This finding has been repeated many times by other researchers. What are the implications? Despite around 600 published research papers looking at autism and serotonin, we’re not really sure. But we’re getting closer to providing answers thanks to crucial help from Autism Speaks.
In the young, developing brain, serotonin stimulates the growth of neurons, or nerve cells. So it follows logically that if serotonin levels are increased in the brains of autistic children, then their brains should be larger. In fact, macrocephaly (big heads) in young children with autism is common. Not only are the brains larger, but certain sensory responses appear earlier in children with autism.
But these findings raise new questions: What do serotonin-producing neurons look like in the brains of children with autism? Would the size and number of serotonin-producing neurons suggest that these cells function earlier in children with autism than in children whose brains develop typically?
The best way to answer such questions is to examine brains of individuals with autism after death. Autism Speaks supports the Autism Tissue Program (ATP), which provides researchers such as myself with access to a the precious resource of brains from autism donors (whose identities are always kept confidential). For instance, ATP records have already confirmed that the brain weights of donors between the ages of 3 and 18 years who had autism are significantly heavier the brains of donors without autism.
To examine the details of serotonin-producing neurons, I and my colleagues prepare and stain slices of brain tissue to reveal the presence of proteins that distinguish serotonin neurons. This procedure allow us to follow how the branches, or axons, of these cells reach out and connect with neighboring cells. Such studies have shown a stark increase in the number of serotonin axons in the brains of children with autism, with these changes appearing in the youngest brains studied (age 3 years) and peaking at around 18 year so of age. Analyses of axon size and branching pattern confirm this increase in an area of the brain associated with auditory sensation and language—the superior temporal cortex. It is hypothesized that the earlier maturation of cortical neurons in this primary auditory area may hinder their incorporation into complex circuits underlying speech.
Of particular interest, my lab has found increased serotonin neuron connections that, on first impression, seem inconsistent with observations widely reported in the scientific literature. Let’s examine them:
First, imaging studies show a decreased rate of serotonin creation and use in the brains of children with autism following administration of tryptophan, a chemical that the body needs to make serotonin. Second, many of the behaviors associated with autism suggest a decrease in serotonin activity. In fact, doctors typically treat hyperactivity, repetitive behavior, and insomnia in adults with drugs that increase serotonin. Paradoxically, recent clinical studies show that drugs that increase serotonin (e.g., selective serotonin re-uptake inhibitors) actually worsen symptoms in children with autism.
The observation that serotonin axons are increased in the brains of people with autism may provide answers to these inconsistencies. Much work needs to done, and the availability of valuable postmortem tissue should be used to its greatest advantage to study not only serotonin neurons, but also other types of brain cells that can affect neurological development. Using the precious resource of donated brain tissue, scientists are able to perform the detailed analyses necessary to see which cells have problems, when and where those problems begin, and what mechanisms may be involved.
Autism Speaks’ Autism Tissue Program supports specialized neuropathology research by providing approved scientists access to the most rare and necessary of resources, post mortem human brain tissue. We wish to recognize the commitment and generosity by our ATP donor families. More information can be found at http://www.autismtissueprogram.org or call 877-333-0999 for information or to initiate a brain donation.
2. Azmitia EC, Singh JS, Whitaker-Azmitia PM. (2011) Increased serotonin axons (immunoreactive to 5-HT transporter) in postmortem brains from young autism donors. Neuropharmacology. 2011 Jun;60(7-8):1347-54.
As head of clinical programs at Autism Speaks, I oversee a number of vital resources for researchers studying the causes and treatment of autism. Today brought the publication of a new and revealing study made possible by Autism Speaks’ Autism Genetic Resource Exchange (AGRE).
Autism researchers have been studying twins for years for insights into the genetic and nongenetic factors that influence the development of autism. One of the most powerful ways to do so is to study twins (both identical and non-identical) where at least one of the pair has autism. This approach allows us to look at how often both twins receive a diagnosis of autism. Study of identical twins, who share 100 percent of their genes, then helps us determine the degree to which autism is inherited, or genetic; and comparison to fraternal twins, who share around 50 percent of their DNA, allows us to understand how environmental influences add to the risk of autism spectrum disorder (ASD).
But until now we’ve had only three, small twin studies, which together looked at just 66 twin pairs–a number too small to produce reliable conclusions. Still, these studies were the best we had, and theysuggested that when one identical twin develops an ASD, the chance of the other twin developing the disorder is as high as 90 percent. These same studies showed little to no overlap among fraternal twins – leading to the conclusion that inherited genes alone produced the risk.
Now comes the game changer. The California Autism Twins Study (CATS) is the largest ever study of twins with ASD, with scientifically reliable information on 192 twin pairs, both identical and fraternal. It was conducted by a group of renowned researchers in collaboration with the AGRE team. AGRE clinical staff collected DNA and helped perform the home-based diagnostic and cognitive testing on many of the participants, using scientifically validated research measures for diagnosing ASD.
So what were its dramatic findings?
It found that when one identical twin develops autism, the chance of the other twin developing the disorder is 70 percent. More surprisingly, it documented a whopping 35 percent overlap among fraternal twins. This is strong evidence that environmental influences are at play. Moreover, the 35 percent “both twins affected” rate is higher than the 3 percent to 14 percent overlap between different age siblings. (i.e. If one child in a family has autism, there is a 3 percent to 14 percent chance that a younger sibling will develop it.) This suggests that there are environmental influences uniquely shared by twins–for instance, in the womb and perhaps during birth.
In other words, we now have strong evidence that, on top of genetic heritability, a shared prenatal environment may have a greater than previously realized role in the development of autism in twins
This has important implications for future research. For instance, is there a particular time period during the pregnancy when a child’s brain development is particularly vulnerable to environmental influences? And what might these influences be? Already we have evidence implicating such factors as advanced parental age, maternal nutrition, maternal infections (especially flu) during pregnancy, and premature and/or underweight birth. Indeed, multiple-birth pregnancies are themselves associated with increased risk of developmental disorders such as cerebral palsy and autism.
Only by further studying these issues can we begin to provide parents and parents-to-be with the reliable guidance they seek and need. Autism Speaks is currently investing in several studies that are exploring how environmental factors increase the risk for ASD. As we go forward in these endeavors, we greatly value your input. So please write and share your comments on our blog and website. For more on the study, read The Womb as Environment.
On July 5th, NBC Nightly News came to Andy Shih, Autism Speaks’ vice president of scientific affairs, for perspective on the game-changing California Autism Twins study. To view the clip please visit here.
More national television media coverage of the ground-breaking results of the California Autism Twin study–research made possible by the Autism Speaks Autism Genetic Resource Exchange (AGRE) and Autism Speaks’ supporters such as you.
by Chief Science Officer of Autism Speaks, Geraldine Dawson, Ph.D.
I often get the question: How is the research we are funding on single gene disorders, such as Fragile X, relevant to the larger population of individuals with ASD? My answer is that, although autism has many different causes – including single gene mutations, multiple genetic factors, and even environmental factors – it is likely that these causes affect common underlying biological pathways. By studying the “simpler” single gene disorders, especially by studying animal models of these disorders, we can discover these pathways and develop medications that hopefully can help restore the functioning of these pathways.
As you will see in the press release, this strategy is being implemented by Seaside Therapeutics. With the help of funding from Autism Speaks and NIH, Mark Bear and other scientists developed an animal model for Fragile X and discovered that glutamate, an excitatory neurotransmitter, is affected by the Fragile X mutation. An overabundance of glutamate is interfering with the ability of neurons to communicate with each other (synaptic functioning). SeasideTherapeutics then tested a medicine, STX209 (arbaclofen), which helps to restore normal synaptic functioning, in a clinical trial with people with Fragile X. They found encouraging results! The next step, which was launched yesterday, is to test the efficacy of STX209 in individuals with ASD. The hope is that this medicine will improve social behavior and reduce irritability (e.g. aggression, tantrums) in people with ASD.
In the press release Randall L. Carpenter, M.D., President and Chief Executive Officer of Seaside Therapeutics says, “In our open-label Phase 2a study of STX209, we observed significant improvements in social impairment—a core symptom of autism spectrum disorders—including symptoms such as preference to be alone, being withdrawn or isolated, and lack of social reactivity. We are spearheading late-stage development of a drug candidate that has the potential to change the treatment paradigm for autism spectrum disorders—addressing core symptoms—and are truly excited about the prospect of helping patients and their families achieve an improved quality of life.”
Arbaclofen acts by stimulating the release of GABA in the brain. To make an simplified analogy, if we think of glutamate as the accelerator pedal in brain, then GABA is the brake pedal. By reducing glutamate through stimulating GABA receptors, the first clinical trial with people who have Fragile X syndrome demonstrated positive effects on behavior.
In Phase 2b of the trial, 25 sites will conduct a randomized, placebo-controlled trial of arbaclofen, enrolling 150 people with ASD for a total duration of treatment of 12 weeks. For more information about the clinical trial visit www.clinicaltrials.gov .
We will be sure to keep you informed as this study and other translational research progresses!
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:
- 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.
- Affect on family
- Autism is a family diagnosis.
- Autism affects where families choose to live.
- 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.
- 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.
- 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.
A new report was released yesterday in the journal Pediatrics that questions the value of uniform early screening for autism spectrum disorders. The premise behind the report titled, “Early Autism Detection: Are We Ready for Routine Screening?” was a desire to evaluate the usefulness of universal screening for infants at 18 to 24 months of age given what is known about the quality of screening tools, the availability of effective treatments, and other considerations.
The authors argue that there have not been enough quality studies comparing screening tools. The availability of effective treatments for those who screened positive is also far from wide or uniform causing the authors to question the value of screening overall.
Autism Speaks remains in support of American Academy of Pediatrics recommendation that all infants be screened for autism spectrum disorders.
The sense of urgency of our mission to create a world in which suffering because of autism no longer exists demands identification and intervention as early as possible, where we do, in fact, have data for the effectiveness for intervention. Dr. Geraldine Dawson, chief science officer of Autism Speaks says, “Early intervention has been shown to result in significant increases in cognitive and language abilities and adaptive behavior, allowing children the best chance for a positive outcome.
Instead of closing the door to an opportunity to guide the development of an infant who is headed toward struggles with an atypical development, we must create new opportunities for those infants to thrive. Indeed, the path to obtaining effective treatments that target the unique needs of your child is still shadowy, but it is something to which are bringing light together. Autism Speaks supports research on effective early screening methods as well as finding best ways to deliver interventions that were shown to be effective to all those who need them today.