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Thursday, July 31, 2014

Research on Psychiatric Disorders (inc. Depression, Schizophrenia and Autism) Targets Inflammation

The Journal of the American Medical Association

July 23, 2014

Activation of the immune system is the body’s natural reaction to infection or tissue damage, but when this protective response is prolonged or excessive, it can play a role in many chronic illnesses, not only of the body, but also of the brain.

“Psychiatric and neurodevelopmental disorders are being thought of more and more as systemic illnesses in which inflammation is involved,” noted Eric Hollander, M.D., of Montefiore Medical Center and Albert Einstein College of Medicine, New York City. The cause of increased inflammation in these conditions isn’t always clear, but it has become a hot topic of investigation.

Hollander, who spoke at the annual meeting of the American Psychiatric Association held here in May, was among several investigators who discussed how immune-inflammatory mechanisms can go awry and contribute to the development of depression, schizophrenia, and autism, insights that are leading to novel experimental approaches for these and other disorders.

Cytokines in Depression

“The notion that inflammation plays a role in neuropsychiatric disorders really caught fire in the context of depression,” said Andrew Miller, M.D., of Emory University School of Medicine, Atlanta.

This idea came from early studies showing that patients with depression, regardless of their physical health status, exhibited cardinal features of inflammation, including increases in inflammatory cytokines in the blood and cerebral spinal fluid.

The inflammatory cytokines interleukin-6 and tumor necrosis factor (TNF), as well as the acute-phase reactant c-reactive protein (CRP), are the most reliable biomarkers of increased inflammation in patients with depression, said Miller.

Studies suggest that proinflammatory processes may be
activated in people with autism spectrum disorders.
A medicalized parasite, the eggs of porcine whipworms,
tamps down the body’s proinflammatory response and is
being studied as a possible treatment for reducing
symptoms of autism.CNRI/

Interestingly, there seems to be a special relationship between inflammation and treatment-resistant depression (TRD), which occurs in about one-third of all depressed patients, said Miller. Patients who don’t respond to antidepressant therapy tend to show an increase in inflammatory markers. Data indicate that these inflammatory molecules can sabotage and circumvent the mechanisms of action of conventional antidepressant therapy.

Given the association of inflammatory cytokines with TRD, researchers set out to test the therapeutic potential of inhibiting inflammatory cytokines in this subset of patients. Administration of a TNF antagonist has been shown to improve depressed mood in patients with other disorders, such as psoriasis and Crohn disease, suggesting that this approach might help reverse depressive symptoms in otherwise healthy patients with TRD.

In a recent proof-of-concept study, Miller and his colleagues gave infusions of the monoclonal antibody infliximab, a TNF antagonist, to 60 adults with major depression that was at least moderately resistant to medication (Raison CL et al. JAMA Psychiatry. 2013;70[1]:31-41). Based on the hypothesis that an anticytokine strategy might be effective only in patients with high inflammation before treatment, the researchers also measured CRP and other inflammatory biomarkers at baseline and throughout the study.

Infliximab did not prove to be more effective than placebo in treating TRD in the study. In fact, overall, those treated with placebo did better than those who received infliximab, said Miller. However, when patients were stratified on the basis of inflammatory biomarkers, those patients with high baseline measurements (plasma CRP concentrations >5 mg/L) had the best response to infliximab.

These results indicate that a simple test for a peripheral blood biomarker of inflammation like CRP might predict which patients would respond to immune-targeted therapy for depression, said Miller. “It’s one of the first studies in psychiatry connecting a biomarker to treatment response,” he noted.

In a subsequent study, Miller’s team compared gene expression profiles of the participants who responded to infliximab with those who did not respond. Within 6 hours after the first infusion of infliximab, the researchers were able to distinguish responders from nonresponders (Mehta D et al.Brain Behav Immun. 2013;31:205-215).

Miller’s group has also been working to identify the brain regions and pathways that are targeted by inflammatory cytokines, such as interferon-alpha—work that may lead to more personalized treatment options for patients with depression, he said (Capuron L et al. Arch Gen Psychiatry. 2012;69[10]:1044-1053).

Anti-Inflammatory Treatment in Schizophrenia

A role for the inflammatory process is also being explored in schizophrenia, noted Norbert Müller, M,D, Ph,D of Ludwig Maximilian University of Munich, Germany.

The influence of infectious agents on the pathogenesis of schizophrenia, as well as on other psychiatric disorders, has been discussed for decades, and prenatal and postnatal infections are considered risk factors for schizophrenia. Research in prenatal infections indicates that the culprit is not a specific infectious agent, but rather the maternal immune response (Krause D et al. World J Biol Psychiatry. 2010;11[5]:739-743).

Data from a 30-year population-based register study indicate that inflammation coming from either infection or autoimmunity is a risk factor for schizophrenia, not only during development but also later in life (Benros ME et al. Am J Psychiatry. 2011;168[12]:1303-1310). The risk seems to increase in a dose-dependent manner, with the risk increasing along with the number of infections, for example, said Müller.

Because of the apparent involvement of inflammatory processes in schizophrenia, the use of anti-inflammatory compounds for the disorder has received increasing attention. A number of studies carried out in the past decade using cyclooxygenase-2 (COX-2) inhibitors in addition to antipsychotic medication have shown a therapeutic effect for the disorder.

Müller noted that timing seems to influence response to this anti-inflammatory therapy because no benefit was seen in a study involving patients who had a long duration of disease (Rapaport MH et al.Biol Psychiatry. 2005;57:1594-1596).

Rather, the most compelling data was for anti-inflammatory therapies carried out in the early phase of the disorder: a recent meta-analysis showed an advantage of COX-2 inhibitors only among patients who had a short duration of the disorder (Nitta M et al.Schizophr Bull. 2013;39[6]:1230-1241).

“From an immunologic point of view, this fits very well,” said Müller. “If you have chronic inflammation, it’s more or less impossible to treat effectively with a short-term anti-inflammatory therapy,” he said.

Müller’s group is also beginning to use interferon γ to activate the cellular arm of immunity (type 1 response), which appears to be blunted in most patients with schizophrenia. The work is only in early stages but so far has shown some promise.

Inflammatory Mechanisms in Autism

A hyperactive immune system is also postulated to play a role in people with autism spectrum disorder (ASD). Increases in proinflammatory cytokines have been found both in the cerebrospinal fluid of patients with ASD and in postmortem brain tissue from deceased patients with autism, said Montefiore’s Hollander.

The association between immune dysfunction and ASD has led researchers to test several novel treatments that target inflammatory mechanisms to alleviate some symptoms of ASD.

One of these mechanisms involves the gut microbiome. “We can think about certain bacteria and parasites in the gut as helping to dampen the chronic inflammatory response, and that a lack of favorable gut parasites allows proinflammatory cytokines to prevail,” said Hollander.

When the microbiome is deprived, as the “hygiene hypothesis” contends has happened in developed countries, it may lead to a lack of control of the immune system. This could help explain why developed countries have higher rates of autoimmune conditions, although other factors—such as underdiagnosis—could also contribute to the lower rates in low- and middle-income countries.

Hollander and his colleagues have focused on trying to beef up the microbiome in people with ASD by introducing a medicalized parasite, Trichuris suis ova (TSO), the eggs of a porcine whipworm.Trichuris suis ova is safe in humans, does not multiply in the host, is not transmittable by contact, and is cleared from the system spontaneously.

Trichuris suis ova works by tamping down the proinflammatory response to increase its survival within the host. It has been studied with some success in autoimmune diseases such as Crohn disease and inflammatory bowel disease and appears to achieve its effects by shifting the balance of T-regulator and T-helper cells and their respective cytokines, said Hollander.

Hollander’s group has been carrying out a small preliminary study of TSO in 10 high-functioning adults with ASD who were able to give informed consent. All participants had a family or personal history of some kind of a seasonal or food allergy or a family history of autoimmune problems.

The aim of identifying this subset of people with ASD was to stratify the study population according to signs of immune dysfunction. In this way, researchers can study a more homogeneous group of people within what is considered a very heterogeneous illness, said Hollander.

In a 28-week, double-blind, randomized, crossover study, the patients received TSO for 3 months (2500 eggs every 2 weeks) followed 4 weeks later by placebo treatment for 3 months. After the first 12-week phase of TSO or placebo, the patients entered a 4-week washout before beginning the second 12-week phase.

The researchers used several measurements to assess symptoms, including stereotypy (self-stimulatory behavior), repetitive behavior, and rigidity or craving for sameness. In their interim analysis of this pilot study, they demonstrated the feasibility and safety of using TSO in an adult population with autism and have found a potential benefit from treatment in all these domains.

Hollander’s team is in the process of launching a new study of this same approach in a pediatric population with ASD, based on the idea that early intervention in developmental disorders is optimal.

In a different therapeutic approach, Hollander and his colleagues studied 10 children with ASD who had a history of symptom improvement when they had fevers. All the children spent alternate days soaking in a hot tub at 102°F (to mimic fever) or at 98°F (control condition).

The children showed improvements on the days when their body temperature was raised to 102°F, compared with the days they were bathed at 98°F. Benefits were seen particularly in restricted and repetitive behavior as well as social behavior, said Hollander.

The mechanism of action is under investigation, but researchers conjecture that raising the body’s temperature either through fever or a hot tub bath releases anti-inflammatory signals that can bring about the observed behavioral effects.

Future studies need to be done to replicate many of these findings. But researchers suggest the data represent a step toward personalizing therapies for psychiatric and neurodevelopmental disorders and provide promise for the development of inflammatory biomarkers and treatment approaches for patients who are responsive to immune-targeted therapies.

A Bipartisan Argument for Full-Service Community Schools

From Education Week

By Congressmen Steny H. Hoyer and Aaron Schock
July 28, 2014

“The children served by these schools have a greater chance of closing the achievement gap, succeeding in school, and graduating ready for college or a career.”

One of the most important jobs Congress has is to ensure that our nation’s children have access to a quality education and the opportunities it brings. A strong education is critically important to secure a place in our middle class. However, we are not doing enough as a country to provide our children with the educational foundation they need to succeed.

That’s why we joined together last week to introduce the Full-Service Community Schools Act of 2014, bipartisan legislation that would create a competitive-grant program to expand the number of full-service community schools around the country.

Full-service community schools provide support and resources to children and their families in order to encourage the future success of all students. Too often, students from low-income households don’t have the necessities that are critical to their success in the classroom, including proper nutrition and health care.

As we learn more about the links between students’ health and well-being and their performance in reading and math, tackling the interrelated challenges of education, nutrition, and health care has become a top priority.

That challenge is what our bill aims to meet. Full-service community schools put education programs and health services, including nutrition, medical, dental, and counseling, together in one location, providing low-income families with a one-stop shop where they can access the services they need. Bringing these additional services into schools, which can also extend to job training and personal-finance workshops for parents, provides students with a better shot at success and parents with the tools they need to support their children’s learning. Additionally, these facilities stay open after normal school hours and offer weekend hours to increase family participation.

Our bill shows how Washington can work in a principled way to tackle a serious issue with innovative solutions. Under this legislation, grants would be offered to states seeking to support these schools through statewide education programming, as well as to local partnerships between school districts and community-based organizations. Recognizing that rural school districts often find themselves at a disadvantage when competing for funding, our bill features a separate funding stream for these communities.

Full-service community schools are already making a positive impact in many areas around the country, including in Maryland at the early-childhood level. One example is the Judith P. Hoyer Early Child Care and Family Education Centers. This network of 27 full-service community schools across the state provides approximately 12,000 children and their families with year-round, full-day early education and a range of social services.

We can already see the difference being made in Maryland: Program evaluations conducted by the state department of education found that children who used the services at Judy Centers performed better than those who didn’t when tested for kindergarten readiness.

In Peoria, Illinois, three full-service community schools are administered through a partnership with the neighboring Bradley University as a pilot program for what could be achieved statewide at the K-12 level. States with large rural populations could benefit from aggregating services in one place to help families save time traveling long distances to access them. At the same time, urban and suburban areas with higher property costs could find savings by reducing the number of facilities necessary to house these services separately.

The benefits of full-service community schools are clear: This model results in a more efficient delivery of services and saves money. But, most important, the children served by these schools have a greater chance of closing the achievement gap, succeeding in school, and graduating ready for college or a career, according to numerous studies. Investments in full-service community schools are investments in a competitive workforce.

Education for low-income children can help close the achievement gap while yielding dividends in the form of more graduates who will start small businesses and launch new startups as the innovators and entrepreneurs of tomorrow.

Over the coming weeks, we will be working to secure support from both Republicans and Democrats to pass the Full-Service Community Schools Act. Already, our bill has strong support in the education community, including from the Coalition for Community Schools, the American Federation of Teachers, the National Education Association, and the National Association of State Boards of Education.

The challenge of the achievement gap cannot be solved at the state and local levels alone. By partnering the federal government with state education agencies, local school districts, and community-based organizations, we can help close that gap and make certain that every one of our students has the chance to access an education that can place him or her on the path to success.


Steny H. Hoyer, a Democrat, is the House Democratic whip for the U.S. Congress. He represents Maryland’s Fifth District. Aaron Schock, a Republican, represents Illinois’ 18th District and serves on the House Ways and Means Committee.

Wednesday, July 30, 2014

Thinking Smarter About People Who Think Differently

From Wired's Science Blog "Frontal Cortex"

By Jonah Lehrer
April 1, 2012

"Instead of asking 'How can we cure autism?' we should be asking, 'How can we ensure that millions of autistic people lead happy and healthy lives?'"

One of the forthcoming books I’m most excited about is Steve Silberman’s NeuroTribes: A Smarter Way of Thinking about People Who Think Differently. Like Oliver Sacks (and Steve has written the definitive profile of the neurologist), Steve is an incredibly sensitive observer of others. (He’s also a gifted writer and absurdly nice guy.)

Steve isn’t interested in mere description of a condition – he wants to understand how his subjects see the world, immersing himself in their pleasures, passions and struggles.

Last weekend in The Wall Street Journal, I wrote about a new study looking at the information processing advantages of those with autism: they seem to notice more, at least in the visual realm. Given Steve’s book-in-progress and the inherent complexity of the subject, I was eager to ask him some questions. He was gracious enough to send along a few answers.

Steve is a long time contributor to Wired Magazine and blogs about science, mind, and culture at NeuroTribes on the Public Library of Science. He lives with his husband Keith Karraker in San Francisco.

LEHRER: How should the public think about autism? Is it a disease? A disability? Should we be searching for a cure?

SILBERMAN: Autism is one way of being human. The quickest way to cure yourself of shallow assumptions and stereotypes is to talk to autistic adults, who are often marginalized and overlooked in the national conversation. In the course of doing research for my book, I’ve spent a lot of time with adults on the spectrum and their families. When you’re talking to a soulful, witty, complex man or woman — in spoken language, email, or using text-to-speech software — the endless debates about autism and its likely cause du jour fade into the background.

What steps forth is a whole person who struggles with certain issues day to day, many of which are made worse by the truly shocking lack of societal resources committed to helping autistic adults live happier, more secure, and more independent lives.

Autistic people are routinely described as lacking empathy and a sense of humor, having basic emotional deficits, or being so obsessive about their special interests that they must make boring company. But nothing could be further from the truth. One of the great secrets of life on the spectrum is how witty and playful autistic adults can be.

Hans Asperger, one of two researchers who independently discovered autism in the 1940s, noticed how autistic people love punning. And Gawker has nothing on autistic snark. Imagine Mr. Spock on Star Trek arching a Vulcan eyebrow in the face of McCoy’s “highly illogical” behavior, and you have a perfect visual representation of how the follies of neurotypical society look to many autistic adults.

That said, autistic people do face certain challenges that seem built-in to the condition. They struggle with things like scheduling, prioritizing, multitasking, and becoming overwhelmed in noisy, social environments. They need a lot of time and space alone, as well as time spent in the company of other autistic people.

One of the most beautiful and meaningful weeks I’ve ever spent was at an annual event called Autreat, where a few dozen people on the spectrum hang out together in “autistic space.” There are scheduled presentations and group activities, but it’s a very relaxing, low-pressure environment; really, a culture of its own, with its own traditions.

For example, instead of erupting into applause after a presentation, Autreat folks raise their hands in the air and flap them. It’s a wonderful way of expressing appreciation without creating a burst of noise, and also of destigmatizing behavior for which they were punished and bullied as kids. Returning to the neurotypical world after a few days at Autreat was like landing in Times Square after spending a couple of months in Japan. “Normal” behavior suddenly seemed so loud, in-your-face, full of vacuous social posturing and braggadocio.

Of course, some autistic people — particularly as kids — can’t use spoken language at all, or have problems with self-injurious behavior. This is understandably highly upsetting to parents. But I’ve met many autistic adults who were written off as non-verbal or profoundly intellectually disabled when they were young, who turned out to be hilariously verbal and creative, given the right kinds of support and assistive technology. That doesn’t always happen. But you never know what the limits of a human life are until it’s been lived.

These are the reasons why I think it’s much more helpful and accurate to think of autism as a disability. Society understands that disabled people deserve respect, support, and reasonable accommodations. Autistic people deserve those things too. But autism fundraising organizations devote millions and millions of dollars a year to genetic research, and only a tiny fraction of that on researching things that could vastly improve the quality of life for autistic people and their families, like developing new applications of assistive technology for affordable platforms like the iPad.

Neurotypicals stereotype autistics as obsessed and perseverative, but neurotypical society is obsessed and perseverative when talking about causes and cures for autism. We just spent ten years of very expensive research hunting for autism genes, only to discover that autism genetics is much more complex than we thought. We’re investing all this money in trying to make autistic people go away, instead of helping the millions of autistic people who are already here lead happier, safer, and more productive lives. That’s a shameful squandering of human resources.

LEHRER: What do you think this new study can teach us about so-called autistic savants?

SILBERMAN: Savants like Raymond Babbitt – the central character played by Dustin Hoffman in the 1988 film “Rain Man” — are one way that society got interested in what was formerly considered a very rare, even obscure disorder. That’s natural. Savant talents can be very impressive, even mind-blowing.

I remember meeting a wonderful young jazz musician named Matt Savage — who I wrote about in Wired — when he was 11. The first thing he said to me, in classic autistic fashion, was “When were you born?” I said “December 23, 1957.” He replied instantly, “Aw, Monday’s child, fair of face.” Obviously, that’s fascinating. The reigning authority on savant syndrome, Darold Treffert, told me that Matt is the “rarest of the rare.”

But what’s he doing now, nine years later? He’s doing what any very committed young jazz musician should do: he’s playing gigs with his trio and studying at Berklee College of Music. The fact that he received a diagnosis of PDD-NOS when he was a baby seems less important now than the fact that he’s developing his creativity and honing his distinctive skills, which include the special gifts of his atypical brain.

The most provocative thing about Nilli Lavie’s new study is that it shows that one of these gifts — the ability to take in high amounts of visual information at any one time — is not limited to savants, but is a feature of the characteristic ways that autistic brains process information. The study suggests that we’re looking at autistic savants the wrong way — instead of being “the rarest of the rare,” they’re representative of an autistic cognitive style that can be superior to that of neurotypicals in some ways.

It’s time to talk less about autistic deficits and extraordinary savants, and more about the strengths of atypical cognitive styles like autism.

I asked one of the researchers who worked on the study, Anna Remington, about its implications. She told me,

“Sometimes this extra information can be a distraction, but in many situations, it will mean that autistics can perform at a higher level than typical adults. This knowledge could be used to create learning programs that harness these special abilities, and also highlights the fact that there are areas such as data analysis and IT where individuals with ASD could make an important contribution to society. We hope that understanding this increased ability to process information may enable people with the condition to capitalize on their unique strengths.”

LEHRER: How has researching your forthcoming book changed the way you think about the condition?

SILBERMAN: When I first started thinking about a book after writing “The Geek Syndrome” ten years ago, I was mostly interested in the science of causes and cures, like a typical neurotypical. Now I’m much more interested in addressing the social problems faced by autistic people and their families. By continuing to think about autism as a disease in search of a cure instead of a disability that deserves support, services, accomodations, and highly creative research into education and assistive technology, we’re a society in denial.

The new CDC report saying that one in 88 children is autistic should be a wake-up call to the fact that we’re currently offering very few resources to these folks once they become adults. Instead of asking “How can we cure autism?” we should be asking, “How can we ensure that millions of autistic people lead happy and healthy lives?”

More than Prenatal Genetics: The Search for Autism’s Origins

From Autism Speaks

By Martha Herbert, M.D.
July 28, 2014

NOTE: If you’d like to read an extended version of this post, with citations to the studies mentioned, please follow this link to Dr. Herbert's informative personal blog, AutismWHYandHOW.

How and when does autism start?

Unfortunately we have no way of looking directly at the disorder’s early origins. Presumably autism’s origins begin significantly before the time of diagnosis. But we have no way of reliably predicting autism before its characteristic behaviors emerge in the second or third year of life.

This is a particular problem when we look at the cellular structure of the brain. We can only put brain tissue under a microscope after death, when an individual or family has arranged to make a postmortem donation for research – a profoundly generous and important act. (Learn about registering your family with
Autism BrainNet here.)

If the donation involves a child too young to have been diagnosed, we can’t know whether the brain was affected by autism. If the person died after diagnosis, it’s difficult to know whether or how brain differences relate to autism. What’s more, we don’t know with certainty when during brain development the differences developed.

Even so, many autism researchers have looked at brain tissue and reasoned back from what we know about brain development to draw conclusions about how and when autism might have started. This may be the best window we have into autism’s earliest emergence in the brain. However, the stories we develop from these findings are just that— stories and interpretations — not hard facts.

A Closer Look at a Recent Study

A recent study in the New England Journal of Medicine was widely viewed as proving that autism starts early in prenatal development. This is a huge claim to make from brain tissue collected from 11 children with autism and 11 unaffected children. So it’s very important for the future of autism research that we understand the strengths and weaknesses of this study’s methods and how the authors interpreted their findings.

Let me summarize what I see as the key points. The researchers discovered patches of disorganization in the layering of the neocortex. That’s the gray matter on the outer surface of the brain. These patches were a bit thinner and had missing molecular markers. And they were far more common in the brain tissue from the children affected by autism than they were in the tissue from the unaffected children.

We know when prenatal brain layering develops and that genes control and guide this process. So the authors inferred that these patches were caused by genetic differences. However, these patches differed in structure and placement in different brains. In fact, they were located pretty randomly. If anything, I think this suggests that something happened to the brain tissue during the formation of the layers or more likely after the layers formed.

Environmental and Physiological Factors

More and more studies are revealing non-genetic influences on autism risk that can affect prenatal brain development. These include a variety of maternal health problems during pregnancy. Examples include infections, immune and metabolic disturbances such as maternal diabetes, obesity, stress and high blood pressure.

Other nongenetic influences may include maternal or prenatal exposure to pesticides and other toxic substances and perhaps even exposure to electromagnetic fields. We also have research implicating inadequate supply of nutrients in the mother’s diet immediately prior to or during pregnancy. This research includes studies on vitamin D, antioxidants, essential fatty acids and key minerals.

Such non-genetic factors, individually or in combination, could affect the developing brain by creating vulnerabilities in brain cells, membranes and tissue. Those weaknesses would make the baby’s brain more easily stressed or injured during pregnancy or infancy.

Beyond Location

In the New England Journal of Medicine study I mentioned earlier, the researchers inferred that the location of the patches they found contributed to autism and to its variable symptoms between individuals. They based this claim on the larger number of patches they found in two areas of the brain frequently associated with autism (frontal and temporal) – as well as a lack of patches in the occipital lobe (related to vision).

But if one takes into account the above non-genetic risk factors, one might tell a very different story. The chemical and immune imbalances that might have injured the developing brain are likely to continue throughout pregnancy and into infancy. These imbalances tend to be excitatory and irritating, and this irritation might disturb the function of synapses and networks in autism in an ongoing fashion after birth—and probably in many different locations.

This might explain one of the observations that the researchers made: Excitatory neurons were reduced. Perhaps the neurons were burned out by too much irritation.

More than Genetics: Environment and Physiology Are Central Too

In my opinion, the methods that the researchers used in their study were nowhere near strong enough to exclude the possible role of such non-genetic risk factors. They seemed to assume that the role of environmental and physiological factors is subsidiary to genetic influences. But this is their belief, not a fact. We should not simply assume that if it is neurodevelopmental, it’s purely genetic.

We need to keep a broader perspective alive not only to explain what is driving the increasing numbers of people with autism, but also because there are things we already know about how to help reduce many of these non-genetic risk factors. This means we know enough – right now – to help reduce the incidence and severity of autism.

People with autism, their families, those suffering from chronic diseases with overlapping genetic and environmental contributors and physiological mechanisms and society as a whole would benefit from a concerted attempt by the funders of autism research to take a broader, more comprehensive and more integrated approach to science, policy, and the education of the community and public.

We need to study autism, interpret scientific findings and develop treatment strategies and policy as if not just genetics but also environment and physiology really mattered.


Guest post by Pediatric Neurologist Martha Herbert, M.D. of Harvard Medical School. Dr. Herbert is the author, with Journalist Karen Weintraub, of The Autism Revolution: Whole Body Strategies for Making Life All It Can Be.

Tuesday, July 29, 2014

The Stress of Poverty on Early Brain Development

The Federation for Children with Special Needs

By Jane Crecco
Training and Support Specialist

July 24, 2014

The first Adverse Childhood Experiences (ACE) study was conducted by the Centers for Disease Control (CDC) and Kaiser Health Plan between 1995 and 1997. Since then, it has become widely accepted that stressful and traumatic childhood experiences are indicators of social, emotional, and cognitive impairments.

Recent breakthroughs in neurobiology have confirmed that ACEs disrupt and alter the early development of a child’s “brain architecture.” In the long-term, ACEs impact a number of health outcomes and yield increasingly negative social fallout.

In the last couple of years, new risk factors have been added to the list of specific adverse family experiences. See, in particular, the National Survey of Children’s Health (1). Perceived discrimination, being a witness or victim of neighborhood violence, and socioeconomic hardship were all added to the ACE survey questions. The data collected are troubling and profound.

New research in epigenetics is also adding to the mix of distress for children with multiple ACEs. Epigenetics is the process by which outside experiences alter gene expression. Recent research shows that a stressful upbringing changes the structure of multiple genes. These changes are passed on to subsequent generations, even those without ACEs, negatively impacting the stress response of developing children. (2)

A new policy brief published by The Future of Children: Princeton-Brookings (3) discusses some promising new programs aimed at helping families facing chronic stress, particularly those in areas of high poverty or homelessness. The data show that this is necessary.

In 2012, more than six million (22%) of children under age six in the United States lived in poverty. Almost 50% of all children lived in low-income families (income less than 200% of the federal poverty level).

These programs embrace a safe and supportive early environment for children at risk for ACEs. Home-visitation programs, starting during early pregnancy, offer great hope. Pediatricians can establish their offices as “medical homes” to ensure that young families have a primary source of care in which periodic health and behavioral assessments take place. Money is needed – ongoing federal assistance can significantly ease the financial stress of young families.

High quality child care is also essential. Head Start-Trauma Smart, a new initiative being piloted in Kansas City, is showing tremendous success by providing at-risk kids access to warm, responsive, child-centered teachers who provide safe, supportive and predictable environments in early learning.

These programs demonstrate the views of one of the original ACE study researchers. Robert Anda recently commented on new findings based on his work, stating that, “until now, the persistent effects [of ACEs] were ‘hidden’ from the view of both neuroscientists and public health researchers. This is no longer the case. In fact, with this information comes the responsibility to use it." (4)


1.) The NSCH is a telephone survey conducted by the National Center of Health Statistics at the Centers for Disease Control under the direction and sponsorship of the federal Maternal and Child Health Bureau. Child and Adolescent Health Measurement Initiative (2013). “What’s new in the 2011/12 National Survey of Children’s Health?” Data Resource Center, supported by Cooperative Agreement 1-U59-MC06980-01 from the U.S. Department of Health and Human Services, Health Resources and Services Administration.

2.) Dubovsky, Steven, M.D. “Emerging Perspectives: Epigenetics-A Mechanism for the Impact of Experience on Inheritance.” NEFM Journal Watch Psychiatry. October 18, 2010.

3.) Ross A. Thompson and Ron Haskins, “Early Stress Gets under the Skin: Promising Initiatives to Help Children Facing Chronic Adversity,” Policy Brief Spring 2014, The Future of Children Princeton: Brookings, Princeton, NJ, Spring 2014,

4.) Robert Anda, “The Health and Social Impact of Growing Up With Adverse Childhood Experiences: The Human and Economic Costs of the Status Quo.” A complete bibliography of ACE Study publications is available online at

Friday, August 1st: FREE Community Partners Night at the Museum of Science Boston

From the Museum of Science Boston

July 28, 2014

Please join us Friday, August 1, 2014 for a Community Partners Night at the Museum of Science. Enjoy the main exhibit halls, including live presentations like the Theater of Electricity.

Participate in evening astronomy activities (8:30 - 10:00pm), which include stargazing in the Museum's Gilliland Observatory on clear nights. We will also have a limited number of tickets available for a Planetarium show.
  • Registered guests will receive up to 4 free exhibit hall passes per reservation. Guests can view the exhibits from 5:00 - 9:00pm, when the Museum closes.
  • ASL interpreters will be available. Please indicate if you need an interpreter.
  • Guests can pick up their reserved tickets at the Community Relations registration table in the Museum lobby August 1, between 5:00 and 8:00pm.
  • The first 100 registered guests to arrive at the museum will also receive free Planetarium show tickets. 

If you have any questions, please contact Maria Cabrera (, 617-589-0418) or James Boyd (, 617-589-0315). If you have questions regarding accommodations or accessibility, contact Nora Nagle (, 617-589-3102).

Monday, July 28, 2014

Free Concert at the Hatch Shell July 30th: Longwood Symphony Orchestra

From Vinfen

July 28, 2014

Vinfen and the Longwood Symphony Orchestra invite you to a free concert July 30th! To learn more, click here.

When:   7:00pm Wednesday, July 30, 2014

Where:  DCR Hatch Memorial Shell, Charles River Esplanade.
                   Hatch Shell accessibility information:

For more information, contact Sharon Gray, Vinfen Director of Development, at, or call (617) 441-1896.


Vinfen is a leading provider of community-based services to people with psychiatric conditions, intellectual and developmental disabilities, brain injuries, and behavioral health challenges. Their dedicated uses the latest in science-based interventions to support the people they serve in achieving their goals and leading more independent, productive, and valued lives as members of their community. For more information about Vinfen, please visit

Why Teens With Learning and Attention Issues Take More Risks

The National Center for Learning Disabilities

By Erica Patino
July 22, 2014

At a Glance
  • Learning and attention issues may make teens more likely to engage in risky behaviors.
  • Teens with learning and attention issues may take more risks due to low self-esteem or immature thinking.
  • Studies have shown links between ADHD and risky behavior, such as distracted driving and substance abuse.

Teens are at an age when they naturally start to become more independent. But they may not always make the best choices. Teens who have learning and attention issues may be especially likely to take risks. It’s good for you to be aware of this possibility and to understand what risky behavior can look like.

What Cause Teens to Take More Risks

It may seem like your teen is misbehaving just to be difficult. But this isn’t always the case. Take teens who have attention issues, such as attention-deficit hyperactivity disorder (ADHD). They may understand the risks of driving recklessly or failing school. But they may not be as able to regulate their behavior as kids who don’t have ADHD.

Teens with ADHD may have poor judgment, immature thinking, and trouble with impulse control. For example, a teen with ADHD may not want to start smoking. But to fit in and look cool, he says yes when a classmate offers him a cigarette—and then continues smoking.

There’s a lot of research on risky behavior of teens who have ADHD. That’s because ADHD is often tied to behavior issues.

Kids who don’t have ADHD but who have other learning issues can have trouble making good choices, too. They sometimes struggle with thinking about and planning what they want to do. And like kids with attention issues, they may have low self-esteem, which can sometimes lead to risky behaviors.

What Risky Behavior Can Look Like

Researchers have found the following links between ADHD and risky behaviors in teens:

Problems with school: Teens with ADHD may be disruptive in class. Sometimes those actions aren’t intentional. They’re the result of poor impulse control. They might be late to class often, lose textbooks and interrupt lectures. Teens with ADHD are expelled from school at a rate two-and-a-half times that of teens who don’t have ADHD.

Problems with driving: ADHD is linked with dangerous and distracted driving. Poor impulse control may cause teens to drive too fast. Inattention may cause them to daydream instead of paying attention to the road. Teens with ADHD have a higher rate of car accidents, speeding tickets, and getting their license suspended or revoked than teens without ADHD.

Sexual activity: Initial studies have found that teens with ADHD may start having sex at a younger age and with more sexual partners. One study found that teens with ADHD were less likely to use contraception and more likely to have a teenage pregnancy.

Substance abuse: Teens with ADHD may be more likely to abuse substances such as alcohol, marijuana and cocaine—and to become dependent on them. This might be due to poor impulse control. Or it might be an effort to improve their attention span or deal with frustrations at school. Learn more about teens and substance abuse.

Problems with the law: It’s not yet clear if ADHD can be tied to criminal behavior, such as shoplifting and damaging property. Early studies found that teens with ADHD may be more likely to go to juvenile court. But the studies didn’t take into account behavioral problems that may be due to traumatic experiences or abuse.

Not all teens with learning and attention issues do risky things, but some do. Knowing the signs of risky behavior can help you spot them in your teen. For ways to help your teen, consider these tips for reducing risky behaviors and resources for parents of at-risk teens.

Key Takeaways

  • Risky behaviors can lead to being expelled from school or trouble with the law.
  • Teens with ADHD may be more likely to abuse substances and have unprotected sex.
  • Knowing the signs of risky behavior can help you spot them in your teen.

Erica Patino, M.A. is an online writer and editor who specializes in health and wellness. Her articles have appeared on websites such as Everyday Health, Health Monitor and Medscape.

Common Gene Variants Account for Most Genetic Risk for Autism

The National Institute of Mental Health

July 20, 2014

Most of the genetic risk for autism comes from versions of genes common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. Heritability also outweighed other risk factors in this largest study of its kind to date.

About 52% of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

“Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture,” explained Joseph Buxbaum, Ph.D. , of the Icahn School of Medicine at Mount Sinai (ISMMS), New York City.

“Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together.”

Buxbaum, and colleagues of the Population-Based Autism Genetics and Environment Study (PAGES) Consortium, report on their findings in a unique Swedish sample July 20, 2014 in the journal Nature Genetics.

“Thanks to the boost in statistical power that comes with ample sample size, autism geneticists can now detect common as well as rare genetic variation associated with risk,” said Thomas R. Insel, M.D., director of the NIH’s National Institute of Mental Health (NIMH). “Knowing the nature of the genetic risk will reveal clues to the molecular roots of the disorder. Common variation may be more important than we thought.”

Although autism is thought to be caused by an interplay of genetic and other factors, including environmental, consensus on their relative contributions and the outlines of its genetic architecture has remained elusive. Recently, evidence has been mounting that genomes of people with autism are prone to harboring rare mutations, often spontaneous, that exert strong effects and can largely account for particular cases of disease.

More challenging is to gauge the collective impact on autism risk of numerous variations in the genetic code shared by most people, which are individually much subtler in effect. Limitations of sample size and composition made it difficult to detect these effects and to estimate the relative influence of such common, rare inherited, and rare spontaneous variation. Differences in methods and statistical models also resulted in sometimes wildly discrepant estimates of autism’s heritability – ranging from 17 to 50 percent.

Meanwhile, recent genome-wide studies of schizophrenia have achieved large enough sample sizes to reveal involvement of well over 100 common gene variants in that disorder. These promise improved understanding of the underlying biology – and even development of risk-scores, which could help predict who might benefit from early interventions to nip psychotic episodes in the bud.

With their new study, autism genetics is beginning to catch up, say the researchers. It was made possible by Sweden’s universal health registry, which allowed investigators to compare a very large sample of about 3,000 people with autism with matched controls. Researchers also brought to bear new statistical methods that allowed them to more reliably sort out the heritability of the disorder.

In addition, they were able to compare their results with a parallel study in 1.6 million Swedish families, which took into account data from twins and cousins, and factors like age of the father at birth and parents’ psychiatric history. A best-fit statistical model took form, based mostly on combined effects of multiple genes and non-shared environmental factors.

“This is a different kind of analysis than employed in previous studies,” explained Thomas Lehner, Ph.D., chief of NIMH’s Genomics Research Branch. “Data from genome-wide association studies was used to identify a genetic model instead of focusing just on pinpointing genetic risk factors. The researchers were able to pick from all of the cases of illness within a population-based registry.”

Now that the genetic architecture is better understood, the researchers are identifying specific genetic risk factors detected in the sample, such as deletions and duplications of genetic material and spontaneous mutations. Even though such rare spontaneous mutations accounted for only a small fraction of autism risk, the potentially large effects of these glitches makes them important clues to understanding the molecular underpinnings of the disorder, say the researchers.

“Within a given family, the mutations could be a critical determinant that leads to the manifestation of ASD in a particular family member,” said Buxbaum. “The family may have common variation that puts it at risk, but if there is also a de novo [spontaneous} mutation on top of that, it could push an individual over the edge.

So, for many families, the interplay between common and spontaneous genetic factors could be the underlying genetic architecture of the disorder.”

Other lead investigators on the study were: Christina Hultman, Ph.D. , Karolinska Institute, Stockholm, Sweden; Bernie Devlin, Ph.D. , University of Pittsburgh; Avraham Reichenberg, Ph.D. , ISMMS; Kathryn Roeder, Ph.D. , Carnegie Mellon University, Pittsburgh.

The research was funded, in part, by grants from the NIH’s NIMH, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and National Institute on Neurological Disorders and Stroke.


Gaughler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CH, Devlin B, Roeder K, Buxbaum JD. Most genetic risk for autism resides with common variation. Nature Genetics, online ahead of print July 20, 2014. doi:10.1038/ng.3039.

Sunday, July 27, 2014

Seeing the Child, Not the Disability

From The New York Times' Health Blog "Well"

By Dennis Rosen, M.D.
July 24, 2014

It had been several months since I had last seen my patient, and even longer since I’d seen his mother. He was 3 and unable to walk or talk, and when I caught his eye, his face broke open into a huge smile, accompanied by the grunting and rhythmic thrusting of his torso and arms that he uses to express himself.

Shortly after he was born, he was found to have a genetic variance about which, unfortunately, little is known. My patient has an unusually small head, widely spaced eyes, seizures, feeding and digestive problems, and a wide range of developmental delays. He also has obstructive sleep apnea, which is why I had first become involved in his care when he was only a couple months old.

Credit: James O’Brien for The New York Times

About a year ago, his mother told me that she was planning to go back to school to become a medical clinical assistant. Since then, his grandmother had accompanied him to his last few appointments so his mother would not have to miss class.

I asked the mother if she had finished her coursework.

“My classes, yes,” she replied. “But I still haven’t taken the certifying exam.”

“Why not?” I asked, guessing what the answer was even before I had finished the question. “Are you nervous about passing?”

“Yes,” she said, half-smiling to herself before looking up at me.

We talked about how her year had gone. She told me that she had found the classwork quite easy because of her experience in caring for her own child with special needs. “All of the pumps and suction machines and nebulizers, I knew all that from him,” she said, bouncing a finger lightly off the tip of her son’s nose and eliciting a giggle.

I encouraged her to push ahead. “I’m sure you’ll do fine on the exam, and it will be great for you to start doing something you’re good at and being in regular contact with other adults.”

“Yeah, you’re right,” she said. “I like the people in health care. People in health care, they don’t stare at my son like he’s some kind of freak, you know? They see him for who he is.”

She took a deep breath and continued. “It’s different when I’m around other people. Either they make faces because they think he is too big to be in a stroller, or when he starts making his sounds and throwing his body around, they just stand there and stare. I feel like they don’t want either of us around and just wish we would go away.”

I started my pediatric residency 18 years ago this summer, two months after my oldest was born. Over the years, I have cared for thousands of children with all sorts of conditions, and I try to connect with each and every one of them in a special way.

With some, I talk about what they’re reading, the sports they’re doing, the instruments they’re playing, their dreams or their fears. With others, the communication is nonverbal, whether they are babies who haven’t yet learned to speak, or their development is delayed. I have yet to meet a child who fails to kindle my compassion or to bring out in me the most basic desire to try to help.

Perhaps this is why I was so shaken by what I had just heard, about mother and son being shunned by others who were unable to see the son she loves as a child instead of as a condition or disease. I couldn’t help recognize the cruel irony of these strangers withdrawing from this child because of the very sounds and movements that he uses to try and interact with them, undeniable expressions of his humanity.

Faced with such a child in the park or at a restaurant, too many of us just stand there and stare. Instead, notice the twinkle in the child’s eyes, even if they are half-hidden behind smudged, thick-lensed glasses. Return the smile, even if it twists unusually or is wetter than what you’re used to. Wave back at him when he jerks his arms toward you, and say hello, even if it’s hard to understand exactly what she’s saying.

These children, and their families, will notice, and feel welcomed.


Dennis Rosen is a pediatric pulmonologist practicing in Boston, and the author of “Vital Conversations: Improving Communication Between Doctors and Patients,” to be published by Columbia University Press in September.

Schools Must Abandon Zero-Tolerance Discipline

From Education Week

By Kavitha Mediratta
July 24, 2014

In 2007, the high school graduation rate in Baltimore, a city where the school system serves 85,000 mostly African-American and low-income students, was an abysmal 34 percent. Then Andrés A. Alonso, the chief executive for the city’s schools, took action. He revised the code of discipline to prevent suspensions for less serious offenses and instituted targeted counseling, after-school programs, and academic interventions to help students succeed.

Four years later, the dropout rate had been reduced by more than half. Eighty-seven percent of Baltimore students who began high school the year the reforms were implemented had either graduated or were completing their studies.

Baltimore’s success story, and others like it in California and Colorado, offer concrete evidence of effective alternatives to zero-tolerance discipline policies, which hurt students’ ability to learn and thrive and too often push them out of school. By helping principals and teachers address the underlying causes of misconduct—and giving them options other than suspension and expulsion—forward-thinking school districts across the nation are demonstrating how positive discipline can improve educational outcomes.

But more school systems need to follow the lead of these innovative districts and move away from an overreliance on suspensions and expulsions. “The School Discipline Consensus Report,” published last month by the Council of State Governments Justice Center, can help districts do just that. It provides a catalog of effective strategies and recommendations for reforming school disciplinary practices nationwide.

"Although many school districts use early-warning data systems to identify students at risk of not graduating, few use them to also track disciplinary data."

The report, which draws on research and interviews of more than 700 experts in education, justice, health, and the behavioral sciences, presents a host of strategies to help schools and districts create positive climates for teaching and learning. These include improving educators’ skills for managing student behavior in the classroom, using school safety measures that support collaborative problem-solving, and strengthening educational services for students placed in alternative education and juvenile-justice settings so that they can transition successfully back to school.

The report is a response to a problem that has derailed educational opportunities for far too many young people in the United States. Each year, millions of students are removed from their classrooms, frequently for minor infractions. A common misconception is that zero-tolerance discipline is necessary to prevent violence in schools. However, federal and state data show these policies have led to suspensions and expulsions for even the most minor misbehaviors, such as talking back to a teacher or not complying with the dress code.

Rather than improving safety in schools, harsh zero-tolerance discipline has far-reaching negative consequences—dramatically increasing the risk of failure, dropping out, and involvement with the justice system. Even worse, these types of severe punishments disproportionately fall on children of color, particularly African-American students, who are three times more likely than white students to be suspended, even for similar types of misbehavior.

The new discipline consensus report offers schools a road map for change. It provides specific tools to better address students’ behavioral and emotional needs, pointing to the positive experiences of districts that have implemented reforms.

Schools in Austin, Texas, for example, reduced in-school police citations for student misbehavior by 29 percent from one school year to the next by using early-warning systems and other interventions to identify students who were repeatedly disciplined and would benefit from additional social support. In that same period, discretionary removals, in which children are moved to another classroom, suspended, or sent to alternative educational programs, fell by 60 percent.

Although many districts use early-warning data systems to identify students at risk of not graduating, few use them to also track disciplinary data. Expanding these systems to track office referrals and other disciplinary actions can help minimize classroom disruption for children who need extra support.

In Denver, concerns over the growing involvement of school police in minor behavioral matters led the school district and the police department to develop an agreement that carefully defines the roles of school-based officers, emphasizing safety and de-escalation rather than involvement in school discipline matters.

And in Clayton County, Ga., a juvenile-justice collaborative established clear protocols for referring school discipline cases to juvenile court. The result was a 73 percent drop in school-based referrals between 2003 and 2011.

These and other reforms are imminently doable in every district. They also reflect practical steps schools can take at a time when a growing chorus of educators, policymakers, and advocates is calling for reforms to overly harsh discipline practices. Most recently, President Barack Obama’s My Brothers’ Keeper initiative urged school districts to address the damaging impact of suspensions and expulsions on boys and young men of color.

The “consensus report” on school discipline provides strategies that can help schools respond to the president’s call for action and help more students succeed. Leaders at all levels of the education system should come together to implement these comprehensive, data-driven strategies to improve the climate for learning and ensure that all students can learn and thrive.


Kavitha Mediratta is the head of racial-equity program at the Atlantic Philanthropies, in New York City. The principal investigator of a six-year study of community organizing for school reform, she is the lead author of Community Organizing for Stronger Schools: Strategies and Successes (Harvard Education Press, 2009). She also taught previously in elementary and middle schools in Chicago, New Jersey, and southern India.

Saturday, July 26, 2014

The Urgent Need to Shorten Autism's Diagnostic Odyssey

The Simons Foundation Autism Research Initiative

By Dennis P. Wall and Glenn N. Saxe
July 15, 2014

Waiting list: Over the next five years, as many as 5 million children may seek an autism diagnosis, requiring 4 million work hours a year for clinicians.

In the past two decades, autism’s prevalence has increased by more than 600 percent. Although autism manifests early in development, the average age of diagnosis in the U.S. continues to hover stubbornly above 4 years. Unless families can pay out of pocket for specialty programs, they must wait for a diagnosis before launching into therapy.

By the time they get there, their child has lost opportunities for intervention that might have had huge long-term benefits. With the rate of autism now at 1 in 68 people and climbing — the result of changes in diagnosis, greater awareness, increasing parental age and, really, anyone’s guess — the need for solutions that reach the risk population more quickly and effectively has never been more real.

For most families, the diagnostic odyssey of autism has more stops and starts than the 16 Odysseus endured, with two main stops: the initial detection of risk and its clinical confirmation.

Credit: Julia Yellow

The path to each is long. The first path is not standardized and often rests on the family’s shoulders. The second has more structure, but the process is long and cumbersome, making it difficult to scale it to address the global need. Worse, these two steps are generally decoupled in today’s healthcare system.

As the prevalence rate climbs to 2 percent, autism in the U.S. could increase by as many as 5 million individuals within the next five years. This translates to about 1 million children a year, each requiring, conservatively, about 4 hours of clinical attention to reach the official diagnosis. This is roughly 4 million clinical hours in total, which breaks down to about 1,400 years’ worth of eight-hour workdays.

"Just by simple back-of-the-napkin calculations, it is clear that the system is set up to fail families."

Waiting List

There are approximately 5 developmental pediatricians for every 10,000 children at risk for a diagnosis of autism. Just by simple back-of-the-napkin calculations, it is clear that the system is set up to fail families: The risk population sharply outnumbers the clinicians available to administer the standard of care.

With this kind of math, we might even be happily surprised to learn that the average wait time to receive the official clinical evaluation is about 13 months. But without new approaches, this timeframe will increase and the waiting lists will continue to grow. The time to reach a diagnosis — which in many cases activates therapy — will also continue to climb.

To help clear the first stop in the diagnostic odyssey, leaders in the field have rightfully stressed that all children should be screened for autism at routine 18- and 24-month well checkups. Researchers have developed many valuable tools for early screens of risk.

These include, among others, the Social Communication Questionnaire and the new version of the Modified Checklist for Autism in Toddlers (M-CHAT). (4)

All have merits, but despite endorsement of the M-CHAT by the American Academy of Pediatrics, the adoption rate in general pediatric care remains limited. One reason for this has been low accuracy and, in particular, low specificity — meaning that these questionnaires often cannot distinguish autism from other developmental disorders.

That is changing. The latest version of the M-CHAT shows great promise for rapid risk detection with increased accuracy. It also shows promise for direct-to-parent use that can be done prior to and outside of clinical visits.

We have the similar goal of shortening the time children wait for screening, as well as the length of the screen itself, in part by putting tools into parents’ hands. To do this, we have used data-driven approaches to develop numerical classifiers that work with a small number of behaviors and that, based on the data used to date, appear to have high accuracy for detecting autism risk (1, 2).

These data are based on answers to existing diagnostic questionnaires, such as the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). The questions assess behaviors such as social play, eye contact and functional play with toys.

More testing is underway, but these parent-directed approaches appear to have both high sensitivity and specificity. A key part of our work involves testing the possible use of home videos to enable machine-learning quantification of risk based on multiple raters’ observations.

Parent Participation

Short screens based on parent reports alone are likely to continue to yield false positives, but combining parent reports with a clinician’s observation of the child may not have the same issues.

The ADOS has become the de facto standard for aiding diagnosis for an extremely good reason. It involves direct interaction with the child, which is vital to understanding risk. However, because the ADOS must be administered by clinicians at clinics, its use simply cannot be scaled to the size of the risk population.

For these reasons, we think it is important to explore the potential of parent-directed methods that include a home video observation of the child. We conducted a study that shows that a quick look at short home videos may be a feasible method to screen for autism (3).

The purpose of examining YouTube videos was not to test their potential for diagnosis, but rather to simply test whether trained raters can detect the behaviors targeted by the ADOS in these videos.

A secondary but important purpose was to determine whether multiple assessments of the same video could be done in a timely and economical way. We also ensured that ratings agreed and thereby provided statistical support for a risk calculation and an internal quality control to safeguard against accidental misclassification.

Gathering this information online through a virtual workforce of trained raters is tantalizing in part because it can be scaled to large numbers of participants. It also broadens the reach of natural observation of the child — a part of the process that is valuable yet limited in practical application today.

We have tested our own direct-to-parent approach on data from several thousand children at risk for autism and found high sensitivity and specificity. A plus to our approach is that it uses computational approaches that can calculate the probability of risk, which can be retrained with new data to adapt and maintain accuracy. However, by nature of the algorithms, we expect it will remain short and simple enough to be managed by families outside of clinics.

We certainly understand some of the concern expressed from the clinical community that the information yielded, even if it were completely accurate, could be inappropriately used without clinician involvement. We of course believe that appropriate clinical processes should be inserted to best use and manage this type of information.

Health in Hand

Improving autism screening tools is one goal, but we need to focus at the same time on adoption. Screeners primarily face challenges with standardized adoption because of issues with access and ease of use.

Mobile tools can help. Approximately 1.75 billion people worldwide have a smartphone with video and the ability to run applications. Millions of people from increasingly socioeconomically diverse backgrounds are embracing the mobile health revolution.

This revolution is apparent in Doctor on Demand, Omada Health, Basis, FitBit, Google Glass and Sproutling — technologies, devices and wearables that are meteorically restructuring how people manage their health.

The mobile health market is projected to reach $49.1 billion in 2020. These tools have unparalleled potential to improve patient engagement and care at substantially reduced costs. The positive results so far on moving the practice of screening into parents’ hands suggest that a direct-to-parent mobile health solution is possible. This could reach the booming population of children at risk for developmental delay and autism.

Such an app would also enable structured, consistent and straightforward screening. And tethering it to secure cloud storage would provide a fully mobile way to save the results. For example, it could include a risk profile and breakdown of behaviors from a questionnaire coupled with scored, short home videos of the child.

This would give parents personally controlled records that they store privately. They could also safely share the record with clinicians who could then examine it in the context of other records.

Importantly, mobile health tools can be used repeatedly. This also opens up the potential for tracking progress during therapy. With this we could — relatively quickly and cheaply — have the ‘big data’ necessary to create powerful predictors and much more.

Giving families a way to communicate a standard outcome to their physician could have considerable impact on arriving at the first stop on the diagnostic odyssey — the detection of risk — earlier and more systematically than is possible today.

Yet, in order to reach the second stop and achieve a meaningful reduction in the average age of diagnosis, we must build a better bridge between families and clinicians.

Forming the bridge requires at least three pieces. First, the clinicians must be able to get the results from these direct-to-parent screens. Studies suggest that families and doctors are willing to share information using mobile technology: 69 percent of U.S. adults are willing to communicate with providers by email, and as much as 40 percent are willing to do so using mobile health applications; 84 percent of doctors use tablets and increasing numbers of families are bringing their health information to their doctors through innovative programs such as Blue Button.

Second, clinicians must understand the trade-offs of the risk screen. Even if the screen provides only a general idea of risk, this may be enough to give them a set of clearly structured next steps.

Finally, the bridge requires that clinicians know how to use these data. A focus of our work has been to move toward quantitative scales of risk — probabilities or digital phenotypes that have more information than a simple yes or no. These gradients could give clinicians a more precise way to react — for example by triaging certain children off waiting lists.

We are not suggesting that we remove human and clinical interaction from the process of autism diagnosis. But the earlier and faster that parents are able to move to the therapeutic starting line, the sooner they can begin to engage in activities that equip them and their child with invaluable skills to thrive — and the sooner we can shift our collective focus and our funding to innovative therapies that can reach remote populations.


Dennis P. Wall is associate professor of pediatrics and psychiatry at Stanford University School of Medicine in California. Glenn N. Saxe is director of the Child Study Center at New York University Langone Medical Center.


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5: Constantino J.N. et al. J. Am. Acad. Child Adolesc. Psychiatry 46, 1668-1676 (2007) PubMed

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