Autism

Among school-aged children in the United States an estimated one in 50 has been diagnosed with autism spectrum disorder, according to a recent survey (.pdf) from the Centers for Disease Control and Prevention. In addition to raising concerns among researchers and parents about why the number of cases has increased, the findings underscored the need to do more autism research and to provide support and services for families caring for autistic children.

To help parents and others in the local community better understand the growing prevalence of autism and to learn about treatments and research advancements, the Stanford Autism Center at Packard Children’s Hospital will host its sixth annual Autism Spectrum Disorders Update on June 1. The event offers an opportunity for exchange between parents, caregivers and physicians and provides an overview of the center’s clinical services and ongoing autism research at the School of Medicine.

In anticipation of the day-long symposium, we’ve asked Carl Feinstein, MD, director of the center, to respond to your questions about issues related to autism spectrum disorder and to highlight how research is transforming therapies for the condition.

At the Stanford Autism Center, Feinstein works with a multidisciplinary team to develop treatments and strategies for autism spectrum disorders. In providing care and support for individuals with autism and their families, Feinstein and colleagues identify ways of targeting the primary autism symptoms, while also paying attention to associated behavior problems that may hold a child back from school or community involvement or seriously disrupt family life.

Questions can be submitted to Feinstein by either sending a tweet that includes the hashtag #AskSUMed or posting your question in the comments section below. We’ll collect questions until Wednesday (May 15) at 5 PM Pacific Time.

When submitting questions, please abide by the following ground rules:

• Stay on topic
• Be respectful to the person answering your questions
• Be respectful to one another in submitting questions
• Do not monopolize the conversation or post the same question repeatedly
• Kindly ignore disrespectful or off topic comments
• Know that Twitter handles and/or names may be used in the responses

Feinstein will respond to a selection of the questions submitted, but not all of them, in a future entry on Scope.

Finally – and you may have already guessed this – an answer to any question submitted as part of this feature is meant to offer medical information, not medical advice. These answers are not a basis for any action or inaction, and they’re also not meant to replace the evaluation and determination of your doctor, who will address your specific medical needs and can make a diagnosis and give you the appropriate care.

Previously: New public brain-scan database opens autism research frontiers, New autism treatment shows promising results in pilot study, Autism’s effect on family income, Study shows gene mutation in brain cell channel may cause autism-like syndrome, New imaging analysis reveals distinct features of the autistic brain and Research on autism is moving in the right direction
Photo by Wellcome Images

In a recent thought-provoking guest post on the NeuroTribes blog, autism activist Brenda Rothman discusses her personal journey coming to terms with her son’s diagnosis of autism and shares what she’s learned from him. In order to provide better support to autistic people and their families, she argues that society’s perspective of the neurological condition needs to shift from “awareness” to “acceptance:”

We need to challenge how autism is defined — as a set of behaviors and deficits – because this description leads us inexorably to “fixing” autistic people. Autism is a way that the brain takes in, processes, and responds to information. This way of processing results in variations in the way the world is experienced and the ways that learning, communication, and movement occur. Autistic people develop skills on a different timetable or in a different order than expected.

But autism also comes with a set of strengths – a deep passion for interests, the ability to recognize visual, musical, social, or emotional patterns, and a strong individuality. When we ignore autistic strengths, we ourselves become stuck on fixing autistic people, rather than building on their natural talents.

…

We need to examine our response to autism. When we start with the incorrect premise that autistic people don’t understand or misbehave, we end up with behavioral programs directed at training them to act in “normal” ways. By recognizing that they already communicate and understand, we can identify the obstacles that make it difficult for them. We can move from trying to fix the person to giving them the supports they need. These supports include sensory-friendly environments, devices to assist communication, acceptance of moving around and stimming, and methods of learning that come most naturally to them. Creating supports like this are like building ramps for autistic people, instead of forcing them to climb stairs that exhaust and exclude them.

The full entry is worth a read.

Previously: New public brain-scan database opens autism research frontiers, New imaging analysis reveals distinct features of the autistic brain and Using music to improve communication skills in children with neurodevelopmental disorders

Scientists have a valuable new tool for studying autism: a public database of more than 1,000 brain scans. The scans, which were collected across the country via functional Magnetic Resonance Imaging (fMRI), are from individuals with autism and typical controls who range in age from 6 to 64 years old.

The database, called the Autism Brain Imaging Data Exchange, will alleviate a serious problem in autism research. MRI has already yielded insights into brain structure and function in autism, but many of the existing studies were limited by their small size. (It’s very difficult for any single researcher to collect enough brain images to run such a large study.)

To circumvent this problem, scientists at New York University’s Langone Medical Center and the Kennedy Krieger Institute led an effort to pool scans done in labs around the country. Stanford neuroscientist Vinod Menon, PhD, is among the researchers from more than 15 institutions who contributed brain scans to the new database. He has used MRI to study autism before, and when I spoke with him recently about the research possibilities opened by the new database, his excitement was palpable.

“Any researcher who is interested in conducting studies of brain networks in children and adults with autism will want to look very carefully at this data,” Menon told me, adding that the data set’s large age span will let researchers ask developmental questions that would otherwise be unanswerable. And having the database of scans sitting ready for analysis will make studies faster, less expensive and more replicable, he said.

Previously: New imaging analysis reveals distinct features of the autistic brain

Previous research has demonstrated the effectiveness of music therapy in treating children with Autism Spectrum Disorders (ASD). A recent Atlantic article follows a student of a New York therapeutic school for children with neurodevelopmental disorders and documents how adhering to music’s clearly defined structure helped the 13-year-old manage social interactions and other challenging life situations.

From the piece:

For the last four years, Jaden has been attending [Rebecca School] for music therapy - broadly defined as the clinical use of music for treatment of people with mental, physical or emotional issues. Jaden was born without a corpus callosum - the flat bundle of cells that connects the left and right sides of the brain, facilitating communication between the two hemispheres. He has minimal speaking skills, said Dr. Gil Tippy, [PsyD,] the Rebecca School’s clinical director, but it’s made up for by a penchant for music.

The term “music therapy” first appeared in The Columbia Magazine back in 1789, but it wasn’t until the 1940s that music therapy began to emerge as a clinical profession when hospitals used music to treat World War II soldiers suffering from shell shock. Using music as a therapeutic medium has been shown to facilitate motivation, communication skills and social interaction, and it improves attention spans among children with autism.

Instructors at Rebecca School, which also uses Developmental, Individual-Difference, Relationship-Based (DIR) therapy to reach children, may accompany students on another instrument, encouraging communication by matching pace and tone and even using the rhythm of a piece of music to influence energy states of the student; for example, slowing a beat to calm down a child. The skills acquired through music lessons can be applied elsewhere:

Individuals with ASD often find it challenging to maneuver social situations. That’s because they tend to focus on details, which restricts their ability to understand implicit social cues, said Andrew Gerber,[MD, PhD,] an assistant professor of clinical psychiatry in the Division of Child and Adolescent Psychiatry at Columbia Medical Center. That explains why music is often more appealing: the rules are better defined. “One of the real advantages of using music for a kid with autism is that it’s a chance to be able to teach him rules that are knowable,” said Gerber. “They can feel like they’ve mastered something. It makes sense to them.”

Jaden found his calling in percussion.

Previously: Autism therapies: It still comes down to parents
Photo by woodleywonderworks

An antioxidant supplement has shown early promise as a potential autism therapy, according to a small pilot trial from a Stanford research team. The study will be published June 1 in Biological Psychiatry.

From a press release I wrote to explain the new findings:

The antioxidant, called N-Acetylcysteine, or NAC, lowered irritability in children with autism as well as reducing the children’s repetitive behaviors. The researchers emphasized that the findings must be confirmed in a larger trial before NAC can be recommended for children with autism.

Irritability affects 60 to 70 percent of children with autism. “We’re not talking about mild things: This is throwing, kicking, hitting, the child needing to be restrained,” said Antonio Hardan, MD, the primary author on the new study. “It can affect learning, vocational activities and the child’s ability to participate in autism therapies.”

NAC has some important potential advantages over other autism therapies. Right now, irritability in autism is often treated with second-generation antipsychotics. These drugs produce a greater decrease in irritable behaviors than the Stanford team saw with NAC, but also have severe side effects, potentially causing weight gain, involuntary motor movements and metabolic syndrome, which can lead to diabetes.

In addition, no medications exist to treat repetitive behaviors and other “core features” of autism such as social deficits and language impairment. If the findings about NAC’s effect on repetitive behaviors are replicated in larger trials, NAC will be the first drug to treat one of the disorder’s core features.

Hardan’s team is now applying for funding for a large, multi-center trial of NAC. He told me:

One of the reasons I wanted to do this trial was that NAC is being used by community practitioners who focus on alternative, non-traditional therapies. But there is no strong scientific evidence to support these interventions. Somebody needs to look at them.

Previously: New imaging analysis reveals distinct features of the autistic brain

In an effort to automate early diagnosis of autism, researchers are testing a new system that combines Kinect motion sensors with computer-vision algorithms capable of detecting telltale signs of the behavioral disorder.

The experiment is underway at the University of Minnesota’s Institute of Child Development in Minneapolis. Inside the institute, five Kinect depth-sensing camera rigs installed in the nursery are used to monitor groups of roughly 10 children between the ages of 3 and 5 years old as they play. The New Scientist reports:

The cameras identify and track children based on their shape and the colour of the clothes they are wearing. The information is fed to three PCs, which run software that logs each child’s activity level - including how they move each of their limbs - and plots it against the room’s average. The system can flag up children who are hyperactive or unusually still - both possible markers for autism.

Medical staff can then decide whether the child requires closer attention from a specialist for a one-on-one diagnosis

…

Ultimately, the team hopes to merge the Kinect work with another project it is working on. By studying video footage of children interacting with a psychiatrist, computer-vision algorithms learn to identify behavioural markers as designated on the Autism Observation Scale for Infants (.pdf). The system measures traits like a child’s ability to follow an object as it passes in front of the eyes, as well as noting certain mannerisms or postures that are classified as being early signs of a possible [autism spectrum disorder].

Researchers say that automating diagnosis of autism could result in children beginning speech therapy sooner and getting help learning social and communication skills, which can have a significant impact on treatment outcomes. Long-term, researchers hope to develop a video game for Kinect capable of testing a child as they played with a parent, meanwhile identifying any concerns.

Previously: Mobile app being developed to help people with autism and Could the iPad be an effective learning tool for children with autism?

Perhaps one of the biggest obstacles to research into autism and other psychiatric and neurological diseases is that scientists can’t get living brain cell samples from people with these conditions, for obvious reasons. Now neuroscientists at Stanford have figured out a solution to this dilemma, using a novel approach involving what are known as induced pluripotent stem cells, or iPS cells.

The new method involved taking skin cells from patients with Timothy syndrome (a rare genetic condition that includes autism as a symptom), converting the skin cells into stem cells and then converting those stem cells into neurons. By studying clumps of these neurons, the neuroscientists homed in on potential differences in autistic people’s brain cells. As described in a School of Medicine release:

In this study, the scientists suggest that the autism in Timothy syndrome patients is caused by a gene mutation that makes calcium channels in neuron membranes defective, interfering with how those neurons communicate and develop. The flow of calcium into neurons enables them to fire, and the way that the calcium flow is regulated is a pivotal factor in how our brains function.

The researchers also found brain cells grown from individuals with Timothy syndrome resulted in fewer of the kind of cells that connect both halves of the brain, as well as an overproduction of two of the brain’s chemical messengers, dopamine and norepinephrine. Furthermore, they found they could reverse these effects by chemically blocking the faulty channels.

The findings (subscription required) appear online in Nature Medicine. Researchers say the new technique to recreate how the neurons of individuals with Timothy syndrome develop in a lab setting could prove to be a powerful research tool by allowing scientists to study the disorder in human cells rather than mouse cells.

Previously: Stanford Magazine spotlights scientists’ efforts to untangle the root causes of autism, Joachim Hallmayer discusses new Autism Genome Project study, How better understanding Williams syndrome could advance autism research and Research on autism is moving in the right direction

I was almost 21 before I had any concept of what autism was or what it meant, especially for those families affected by it. But in just a few weeks, I found myself immersed in the issues after taking a job as a behavior instructor for an early-intervention Applied Behavior Analysis (ABA) program.

So I took notice when California Gov. Jerry Brown signed SB 946 - a bill mandating that private insurance companies provide coverage for families seeking ABA therapy as autism treatment. The law will take effect in July 2012.

Insurers have argued that behavior therapy is more aligned with education than with actual health care, but in a Los Angeles Times column, David Lazarus points out these types of treatments are medically necessary. And pricey:

Autism, like nearly all chronic conditions, is expensive. It requires not just medical treatment but also extensive educational, behavioral and vocational support.

A study from the Harvard School of Public Health found that direct medical and nonmedical costs for a severely autistic person can run as much as $72,000 a year. People with milder forms of autism can face costs of about $67,000 annually.

Insurers are concerned about cost: A statement from the California Assocation of Health Plans (an industry group) predicted that SB 946 would drive up health care costs by $850 million a year. But the financial impact of the legislation varies depending on who you ask. The California Health Benefits Review Program conducted an evaluation of the bill for the state legislature estimating that annual costs of the law would actually be closer to $93 million - no small amount of change, but a far cry from $850 million.

The issue is certainly complicated, and there is still quite a bit of time before we begin to see how this will unfold. But as someone who now considers herself an advocate for early intervention and for ABA, I can’t help but wonder if this isn’t a win for many families in California.

Previously: Autism therapies: It still comes down to parents
Photo by Lance Nielson

Autism has sometimes been described as a disease of industrialized high-technology societies. If that’s truly the case, it could have serious implications for our understanding of the disease. So I was troubled to read a post today on the blog Left Brain/Right Brain that shows a major gap in what we know about global incidence of Autism Spectrum Disorder, not to mention the possible lack of support for those with ASD in the developing world.

Apparently, no epidemiological studies have been done on autism in Africa. That’s a key finding in a review that was published in the July issue of the African Journal of Psychiatry by Muideen Bakare, MBBS, FMCPsych, of the Federal Neuro-Psychiatric Hospital in Nigeria and Kerim Munir, MD, of Boston’s Children’s Hospital. The two psychiatrists conducted searches of the Pubmed database for the period from January 2000 through December 2009. They found 12 papers addressing aspects of autism in Africa, but only two involved any epidemiological analysis that could give some sense of the scope of ASD on the continent. And one of those two papers was on Somalis in Sweden, while the other was a broader study of autism in the Middle East that included Tunisia and Egypt. After reviewing all 12 of the papers, the authors concluded:

Studies are required, specifically epidemiological studies, to define the magnitude of the problem of ASD as well as the characteristics of children with ASD in Africa, especially sub-Saharan Africa. These might also help answer the bothering question regarding the etiology of ASD and may also shed light on the reasons for possible differences in prevalence between geographical regions, if any exist. Africa also needs more policy making attention directed at child and adolescent mental health service provision, especially regarding the issues of childhood developmental disorders and intellectual disability.

There has been a recent flurry of new discoveries about the nature and cause of autism (revised estimates about the role of the environment vs. genetics, new data about the likelihood of a younger sibling having autism it the older one has it, research advancing the idea of different biological types of autism). But as important as this research may be, it doesn’t change the day-to-day reality for parents currently raising children with autism.

A column posted today by Lisa Jo Rudy, who writes about autism for About.com, offers a useful reminder about the challenges these parents face: They must sort through a wide array of time-consuming and costly therapies for these kids who have very different needs from each other despite all being on the autism spectrum. While there may be some experts who can offer guidance, they are few and far between and often have long waiting lists. What that means is that parents often shoulder the burden for how to proceed. In writing about her own experience raising a son with autism, Rudy notes, “I was constantly rocked by waves of guilt over whether I was doing ENOUGH, TOO MUCH, or the WRONG THING to help him.”

She also discusses various approaches that are widely accepted and observes:

Over the years, I dipped (with Tom [her son]) into auditory processing therapy, vision therapy, dietary therapies, dance therapy, RDI, Floortime, music therapy, social skills therapy… But being a bit of a skeptic, it occurred to me early on that there was NO WAY to know which of these would help the most, or even to be sure which were making a difference when his skills improved. After all, he wasn’t going to quit OT, PT, speech or school in order to try out vision therapy exclusively!

What was worse, since all these therapies are essentially “alternative” in the sense that a typical pediatrician knows little about them, there’s no one to help guide a parent through the maze. Yes, there are coaches out there, but none know more than the well-versed autism parent about whether X Y or Z therapy is going to be the best option for their individual child with autism.

The column does not offer a neat solution. But it offers useful advice on how to evaluate and make choices. And it does explain why parents of children with autism can become so frustrated. For many seeking help, they have no one to turn to but themselves.

Previously: What’s a parent to do: Risk of autism appears to run higher in siblings and Surprise: Environment’s big role in autism risk