The high-level definition: It’s a common and time-intensive treatment for autism, often based on applied behavioral analysis, an approach in which bad behaviors are discouraged and positive behaviors reinforced.

But it’s not that simple. Behavioral interventions take many forms — discrete trial training, pivotal response training and the Picture Exchange Communication System, to name just a few. The differences among these are subtle and not easy to describe.

Happily, a new online resource of definitions and short video clips helps distinguish them.

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SFARI, January 2012.

So someone with autism, who presumably lacks the ability to understand others’ thoughts and feelings, couldn’t possibly manage a meaningful relationship. Right?

In fact, many people with autism forge deep romantic relationships, as I learned last month from an engaging New York Times profile of two teenagers with Asperger syndrome.

The couple, Kirsten and Jack, live together and are in love — and they’re not all that unusual, according to the article. There are apparently large online communities devoted to helping people with Asperger syndrome find dates and improve their intimate relationships.

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SFARI, January 2012.

Larry Reiter

But in the past couple of years, as competition has intensified in autism research, Reiter has had trouble gaining access to new mouse models. Frustrated, he has decided to focus instead on fruit flies.

Reiter says he worries that others might be similarly discouraged. “People will shy away from working in this area, because they can’t get the mouse to work on,” he says.

On paper, most funding organizations, such as the National Institutes of Health (NIH) and SFARI — this website’s parent organization — as well as most scientific journals stipulate that once researchers publish details of a model animal, they must make the animals available to other labs (see list).

“Failure to comply with the sharing plan may be carefully considered in future funding decisions for the investigator and their institution,” says J.P. Kim, director of the Division of Extramural Inventions and Technology Resources within the NIH Office of Extramural Research.

In practice, however, many researchers intentionally delay sharing or don’t share at all.

“It’s sort of the ugly secret,” Reiter says. “There is a long and proud tradition in the mouse field of holding on to your mouse, sometimes for 20 years.”

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SFARI, January 2012.

Julius Wagner-Jauregg treated several men with psychosis by exposing them to malaria, and won a Nobel Prize for the work.

In the summer of 1917, an Austrian doctor named Julius Wagner-Jauregg gave a man with advanced symptoms of syphilis, including psychotic episodes, a very peculiar treatment: malaria.

The parasitic infection causes fever, and Wagner-Jauregg had a theory that fever treatment, or ‘pyrotherapy,’ could cure psychosis. The doctor injected the man with blood drawn from a soldier with malaria. Within weeks, as expected, this brought on episodes of fever. After the sixth fever, the man’s psychotic fits ended, and he eventually recovered completely from both syphilis and malaria. Wagner-Jauregg repeated the experiment on nine more men with psychosis, and six of them improved.

This marked the first time that scientists had identified a physical treatment for a mental disorder — a feat that earned Wagner-Jauregg a Nobel Prize. To this day, scientists don’t know the mechanisms underlying his success.

Despite a century-long history, we rarely hear about the link between the immune system and mental illness. But the science behind it is rich and varied — from massive epidemiological studies of twins and pregnant women, to the screening of immune molecules in amniotic fluid and postmortem studies of brain inflammation.

For the non-expert, this field can be more intimidating than a box of jumbled Christmas decorations. In his new book, Infectious Behavior: Brain-Immune Connections in Autism, Schizophrenia, and Depression, biologist Paul Patterson nimbly untangles the strings of lights.

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SFARI, January 2012.

With so many gaps in our knowledge of adults with autism, where should research begin?

A list of top priorities appears in the November issue of the Journal of the American Geriatrics Society. The report summarizes a meeting of the Autism-in-Older-Adults Working Group, which met in Chapel Hill, North Carolina, in March 2010.

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SFARI, December 2011.

One report shows, for example, that pregnant women whose babies later develop autism tend to carry rare antibodies in their blood. Another finds that they harbor an excess of certain signaling molecules of the immune system, called cytokines, in the amniotic fluid. A third study found that some autism risk genes expressed in the developing brain belong to networks of genes related to cytokine signaling.

“These studies further build the case for the relevance of the immune system in autism using totally different approaches,” says Paul Patterson, professor of biology at the California Institute of Technology. Patterson has made animal models of the immune system’s role in brain development but was not involved in any of the new studies.

Many investigations of older children and adults with autism have uncovered signs of the immune system gone awry. The new studies are finding similar signatures in early brain development, from the womb through the first few years of life.

Still, no one knows much about the biological mechanisms that determine when, how or why immune molecules affect the fetal brain — let alone whether or why they might contribute to autism.

“Obviously the immune changes are there and are prominent. We just have to figure out what they’re doing,” Patterson says.

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SFARI, December 2011. 

Using a mix of chemicals in a dish, the researchers reprogrammed skin cells from individuals with Timothy syndrome into so-called induced pluripotent stem (iPS) cells and then coaxed these cells to differentiate into neural precursor cells and neurons.

The cells derived from individuals with Timothy syndrome show a host of defects, including abnormal calcium signaling and low numbers of cells that can form long-range connections. Notably, Timothy neurons produce more catecholamines, a class of chemical messengers, compared with neurons reprogrammed from healthy individuals. These chemicals have been linked to autism and, more often, to bipolar disorder and depression.

This chemical excess is largely reversed when researchers expose the cells to a drug called roscovitine, which blocks the flow of calcium across the cell membrane.

The Timothy syndrome gene, CACNA1C, makes a protein needed for a certain type of calcium channel. Mutations in the gene, reported in only a few dozen people, cause heart defects, physical malformations and, usually, autism.

Using the iPS cell approach with rare forms of autism, “you can find things that are interesting potential clinical leads,” says lead investigator Ricardo Dolmetsch, assistant professor of neurobiology at Stanford University in Palo Alto, California. “In a way, it gives you a better preclinical model than we’ve had before.”

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SFARI, December 2011.

In the nucleus of every cell, threads of DNA wrap tightly around spools of histones. Methyl and other chemical groups that attach to either the DNA or histones can turn genes on or off. These so-called epigenetic changes add an extra layer of genetic control by tweaking the amount of RNA and protein produced without changing the underlying DNA sequence.

Looking at postmortem brain tissue from 16 individuals with autism and 10 age-matched controls, the researchers found hundreds of places in the genome where histone methylation is different in individuals with autism.

Many of these abnormal epigenetic marks land on or near known autism risk genes, suggesting that the biological pathways involving these genes may be important even in children with autism who do not carry mutations in the genes, the researchers say.

“You could say that the epigenetic risk architecture that’s described is tracking the genetic risk architecture,” says lead investigator Schahram Akbarian, professor of psychiatry at the University of Massachusetts Medical School.

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SFARI, December 2011.

Less talked about are the parents in developing countries who do, in fact, seek help — sometimes hundreds of miles from home — but have trouble getting it because of poor healthcare infrastructure, high costs, long lines and, most dishearteningly, doctors’ lack of awareness. That was what struck me the most in a survey about Rett syndrome in Chinese families, published 21 November in the American Journal of Medical Genetics Part A.

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SFARI, December 2011.

The drug, called 2-methyl-6-(phenylethyl)-pyrididine, or MPEP, inhibits the mGluR5 receptor, which uses the neurotransmitter glutamate for signaling. In 2007, researchers showed that dialing down mGluR5 activity can reverse the learning problems in a mouse model of fragile X syndrome, the most common inherited cause of autism.

Since then, several groups have begun testing mGluR5 inhibitors as therapies for fragile X or autism.

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SFARI, December 2011.