Rate of Diagnosis for Autism Grows

The New York Times

The rate at which doctors diagnosed autism and related disorders in 8-year-olds increased between 2008 and 2010 in some parts of the country, a report released by the federal Centers for Disease Control and Preventionon Thursday said. The average rate was one in 68 children, up from one in 88 in 2008. The report — based not on direct diagnoses but on a review of records — was not nationally representative and drew on data gathered three years before a significant tightening in the clinical definition of autism. The likelihood of receiving a diagnosis of autism has increased sharply over the past three decades, and no one knows why, or whether the 2010 numbers are currently meaningful.

By BENEDICT CAREYMARCH 27, 2014

Inside the Mind of a Child With Autism

New York Times

Therapists who specialize in autism often use a child’s own interests, toys or obsessions as a way to connect, and sometimes to reward effort and progress on social skills. The more eye contact a child makes, for example, the more play time he or she gets with those precious maps or stuffed animals.

But now a group of scientists and the author of a new book are suggesting that those favorite activities could be harnessed in a deeper, more organic way. If a child is fascinated with animated characters like Thomas the Tank Engine, why not use those characters to prompt and reinforce social development?

Millions of parents do this routinely, if not systematically, flopping down on the floor with a socially distant child to playact the characters themselves.

“We individualize therapy to each child already, so if the child has an affinity for certain animated characters, it’s absolutely worth studying a therapy that incorporates those characters meaningfully,” said Kevin Pelphrey, director of the child neuroscience laboratory at Yale.

He and several other researchers, including John D. E. Gabrieli of M.I.T., Simon Baron-Cohen of the University of Cambridge andPamela Ventola of Yale, are proposing a study to test the approach.

The idea came from Ron Suskind, a former Wall Street Journal reporter whose new book “Life, Animated” describes his family’s experience reaching their autistic son, Owen, through his fascination with Disney movies like “The Little Mermaid” and “Beauty and the Beast.” It was Mr. Suskind’s story that first referred to ‘“affinity therapy.” He approached the researchers to put together a clinical trial based on the idea that some children can develop social and emotional instincts through the characters they love.

Experts familiar with his story say the theory behind the therapy is plausible, given what’s known from years of studying the effects of other approaches.

“The hypothesis they have put forward is sound, and absolutely worth studying,” said Sally J. Rogers, a professor of psychiatry at the MIND Institute of the University of California, Davis. “If you think about these animated characters, they’re strong visual stimuli; the emotions of the characters are exaggerated, those eyebrows and the big eyes, the music accompanying the expressions. Watching those characters is the way many of us learned scripts that are appropriate in social situations.”

But Dr. Rogers cautioned that using animated characters is hardly the key to reaching all autistic children. Many are fascinated by objects or topics without inherent social content — maps, for instance. But for those who fixate on movies, television shows or animated characters, affinity therapy makes sense, she said.

The researchers brought together by Mr. Suskind have written a proposal for a study of the approach. It calls for a 16-week trial for 68 children with autism, ages 4 to 6. Half the children would receive affinity therapy, using the shows or movies they love as a framework to enhance social interaction, building crucial abilities like making eye contact and joint play.

The other half, the control group, would engage in the same amount of interaction with a therapist but in free play, led by the child’s interest. Therapists have had some success using the latter approach, most notably in a therapy called Floortime, developed by Dr. Stanley Greenspan.

In autism therapy, progress is measured in increments and tends to be slow, especially in severely affected children, experts say. But the disorder — the autism spectrum, as it’s known — includes a very diverse group of children whose prospects for improvement are unpredictable and individual. Some children develop social skills relatively quickly, while others are stubbornly unreachable.

Dr. Pelphrey said that the affinity approach would incorporate many elements of pivotal response treatment, a type of therapy being intensely studied. It incorporates a system of rewards into normal interactions between a therapist (or parent) and the child, playing together.

Sarah Calzone of Stratford, Conn., said her son, now 7 years old, became more socially adept in a pivotal response trial at Yale. “The way it works is that, for instance, one time the therapist was playing with my son, blowing bubbles,” Ms. Calzone said. “Then the therapist stopped and looked away. Of course my son still wanted to see the bubbles, so he had to stop, too, and look in the same direction, then make eye contact and ask to continue.”

Those two responses, making eye contact and so-called perspective taking, recognizing another person’s point of view, developed quickly in the therapy. Her son, who has engaged in various therapies nearly every day for most of his life, is now in regular classes at school.

Dr. Pelphrey said that affinity therapy would deploy some of the same techniques, with the therapist playacting a favorite character and inhabiting the scenes with the child.

“Instead of watching Thomas the Tank Engine as a reward, for instance, we would have the child enter the social setting, with Thomas and Percy and the other characters,” and learn through them about eye contact, joint play and friendship, he said. The scientists plan to submit their study proposal to the National Institute of Mental Health for funding.

“The whole thing has been exciting, and a little weird,” said Mr. Suskind, now a senior fellow at Harvard, “having these leading neuroscientists listen to me and say, ‘O.K., what can we do to help?’ ”

By BENEDICT CAREY

How to Think About the Risk of Autism

A recent Study by the New York Times

A study published last week found that the brains of autistic children show abnormalities that are likely to have arisen before birth, which is consistent with a large body of previous evidence. Yet most media coverage focuses on vaccines, which do not cause autism and are given after birth. How can we help people separate real risks from false rumors?

Over the last few years, we’ve seen an explosion of studies linking autism to a wide variety of genetic and environmental factors. Putting these studies in perspective is an enormous challenge. In a database search of more than 34,000 scientific publications mentioning autism since its first description in 1943,  over half have come since 2008.

As a statistically minded neuroscientist, I suggest a different approach that relies on a concept we are familiar with: relative odds. As a single common measuring stick to compare odds, I have chosen the “risk ratio,” a measure that allows the bigger picture to come into focus.

For a variety of studies I asked the same question: How large is the increased risk for autism? My standard for comparison was the likelihood in the general population of autism spectrum disorder.  Here’s an example. Start from the fact that the recorded rate of autism is now 1 in 68, according to a report released last week by the Centers for Disease Control and Prevention. If babies born in purple farmhouses have a rate of autism of 2 in 68, this doubling means that the purple farmhouse carries a risk ratio of 2. However, correlation is not causation, and there is no need to repaint that farmhouse just yet.

We can improve our chances of finding true causes by looking before the age of 2, when it becomes possible to diagnose autism. The risk ratio can give perspective where isolated news stories don’t. Media reports have focused on the risk associated with becoming a mother or father in one’s late 30s or after. The story has obvious appeal: Delayed parenthood is common, and readers are understandably anxious. However, parents-to-be should consider that the individual risk to the child is only around 1.4.The risk associated with enhanced or accelerated labor in full-term babies is about 1.2, after other complications are taken into account. And of course, the risk from vaccination is slightly less than 1 — there is no added risk. Even worse, incorrect beliefs about vaccines come with a cost. The return of measles in communities with falling vaccination rates is one recent example.

One might argue that any added risk is too much. But it is essential to put risk into perspective. The early research in the 1950s that first linked smoking with lung cancer gave a risk ratio around 25 for a pack-a-day smoker. In the case of autism, the risk associated with parental age is dwarfed by the impact of inheritance.

Comparing twins who grow up in the same environment allows researchers to focus on the effects of shared genes. A majority of children with an autistic identical twin are likely to be diagnosed with autism as well for a risk ratio somewhere around 80. A lower risk ratio comes from sharing half of one’s genes, as for fraternal twins or siblings. For these reasons, researchers believe that autism’s roots are largely genetic.

The human genome is dotted with hundreds of autism risk genes. Individually, each gene is usually harmless, and is in fact essential for normal function. This suggests that autism is caused by combinations of genes acting together. Think of genes as being like playing cards, and think of autism outcomes as depending on the entire hand. New mutations can also arise throughout life, which might account for the slightly greater risk associated with older fatherhood.

Although autism has a gene-based beginning, growing brains are also influenced by their environment and external events. Looking at when these risks are greatest can provide clues about when the growing brain is most vulnerable. Based on a large body of evidence, the known hazards occur before birth and fall into three broad categories: prematurity, prenatal stress and brain development.

Many known risks for autism occur during late pregnancy and birth. Premature birth is a risk for developmental disability, including autism. Notably, elective cesarean section is associated with an autism risk ration of 1.9. Since a substantial proportion of early deliveries are elective, without a compelling medical reason, this risk is preventable.

A highly under-appreciated prenatal risk is stress. For pregnant women who take the sometimes-wrenching step of emigrating to a new country, for example, the risk ratio is 2.3. In the fifth through ninth months of pregnancy,  getting caught in a hurricane strike zone carries a risk ratio of about 3. Maternal post-traumatic stress disorder during pregnancy is associated with a similar effect. These events are likely to trigger the secretion of stress hormones, which can enter the fetus’s bloodstream and affect the developing brain for a lifetime. Stressors may also lead to maternal illness, the immune response to which may interfere with brain development. 

Stress might account for other findings as well. Recent news coverage has speculated on the influence of air pollutants, which carry risk ratios around 1.4. This risk might be caused by chemicals — or by the stress of living in a poor or crowded neighborhood, where pollution is worse. A larger risk comes from households that already have an older sibling under 1 year of age, where newly conceived children have a risk ratio for autism of 3.4. So sure, parents should avoid smog — but also might think about spacing their children at judiciously chosen intervals.

After birth, known risks diminish. But the baby’s brain acquires a new need: social experience. In one group of Romanian orphanage children, babies were nearly isolated from social contact, and some later showed autism-like symptoms. Developing brains go through sensitive periods during which they require a minimum level of normal experience. Extreme deprivation may affect a critical period of the brain’s social and emotional development.

Risk ratios are good not just for parents, but also for researchers, who can follow them to new areas for in-depth study. The statistics suggest a conceptual framework in which fetal brain development stays on track unless it is driven awry by genetic hits, by adversity in late pregnancy, or a combination of the two.

In my laboratory, risk ratios have led us to examine particular brain regions. Many brain regions in autistic people show abnormalities, but it is not known whether some malfunctioning regions cause other regions to go off track. In one study focusing on detailed long-term outcomes in 51 children, damage to the cerebellum at birth leads to a risk ratio of about 40. The cerebellum links information arriving from different senses and communicates with nearly all regions of the cerebral cortex. Many known risk genes for autism are turned on together in the cerebellum in early life. Although cerebellum injury is rare, we think the cerebellum might be important in using sensory experience to guide normal brain development.