Stories about: autism spectrum disorders

Could “network” analysis of the brain explain autism’s features?

Ed note: The Obama administration is expected to unveil plans for a decade-long Brain Activity Map project next month. This is Part One of a two-part series on brain mapping.

autism
How is information routed in the brains of children with autism? (Image: Jpatokal/Wikimedia Commons)

It’s now pretty well accepted that autism is a disorder of brain connectivity—demonstrated visually with advanced MRI techniques that can track the paths of nerve fibers. Recent exciting work analyzing EEG recordings supports the idea of altered connectivity, while suggesting the possibility of a diagnostic test for autism.

But what’s happening on a functional level? A study published this week zooms out to take a 30,000-foot view, tracking how the brain routes information in children with autism—in much the way airlines and electrical grids are mapped—and assessing the function of the network as a whole.

“What we found may well change the way we look at the brains of autistic children,” says investigator Jurriaan Peters, MD, of the Department of Neurology at Boston Children’s Hospital.

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Inherited autism mutations found via genomic sequencing in Mideast families

Pedigree for a family with 4 children with autism
In this family with 4 children with autism, genetic mapping and whole-exome sequencing identified a mutation in SYNE1, a gene that's known but never before associated with autism.

Autism clearly runs in some families, yet few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Now, three large Middle Eastern families with autism spectrum disorders (ASDs) have led the way to a few more mutations, potentially broadening the number of genetic tests available to families.

What’s fascinating is that the mutations, described earlier this week in Neuron, affect genes known to cause severe, often lethal genetic syndromes. Milder mutations in the same genes, found through genomic sequencing, primarily cause autism.

Researchers Tim Yu, MD, PhD, Maria Chahrour, PhD, and senior investigator Christopher Walsh, MD, PhD, of Boston Children’s Hospital, started with three large families that had two or more children with an ASD, in which the parents were first cousins. Cousin marriages are a common tradition in the Middle East that greatly facilitates the identification of inherited mutations—as does large family size.

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Genetic signatures yield a blood test and back a neuro-immune view of autism

A “heat map” for autism gene expression (click to enlarge). Each row represents one of the 55 genes differently expressed in ASD patients vs. controls; columns show expression profiles for each of the 99 subjects. Genes in red have relatively increased gene activity; green, reduced activity. The bars along the bottom show how ASD patients vs. controls are distributed; overall, the ASD group has more genes over-expressed, while the control group has more down-regulated. The brackets at left connect genes that tend to be expressed together, while those along the top link individuals with similar gene expression patterns.

Though autism can respond well to early behavioral interventions, it’s typically not diagnosed in the U.S. until around age 5, when these interventions are less effective. Autism is diagnosed based on a child’s behaviors and language, which take time to develop to the point where clinicians can reliably assess them. What’s really needed is a fast, objective test when a child is much younger, before symptoms even show up.

In the past decade, researchers have chipped away at the problem, linking more than a dozen genetic mutations to autism—from small DNA “spelling” changes to lost or extra copies of a gene or genes (known as copy number variants) to wholesale chromosome abnormalities. Tests have been created, such as the chromosomal microarray test. But together, the known mutations account for, at best, 1 in 5 autism cases among tested patients.

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The physics of autism

(Pierre Guinoiseau/Flickr)

People sometimes say that children with autism “march to a different drummer” or “vibrate at a different frequency.” New research analyzing electrical activity in the brain—via electroencephalography, or EEGs—makes it tempting to speculate that these clichés have some truth to them.

EEGs have been around for close to 100 years, and are relatively cheap. But interpretation of these squiggly lines has barely scratched the surface of what they can tell us.

Recent research suggests that EEGs might have a lot to say about how the brain is connected up, and how it processes and integrates information. These messages—if we could properly hear them—might someday help clinicians diagnose autism much earlier than they can now.

The EEG tracks different kinds of rhythms, which show up as waves that oscillate at varying frequencies.

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A good deal: Pharma and academia team up to use stem cells to find autism treatments

In a four-way collaboration, skin cells from patients with autism will be used to make pluripotent stem cells. These will be made into neurons — for study of what goes awry at the cellular level in autism, and for testing of drugs. (Miserlou/Wikimedia Commons)

In recent years, creative new partnerships have demonstrated big pharma’s recognition that academic medical centers hold many important cards in clinical research: scientific expertise, animal models of disease, patient samples and phenotypic data.

Increasingly, these partnerships involve academic and company researchers developing joint grant proposals in targeted areas, selected (by joint agreement) for company sponsorship. Some, like the Immune Disease Institute’s $25M arrangement with GlaxoSmithKline, are specific to one academic institution; others, like Pfizer’s Centers for Therapeutic Innovation (CTI) program, provide the same resources under the same deal structure to multiple institutions. Each new deal advances the interaction and understanding between academia and pharma around the common goal of finding new compounds and bringing them to clinic.

Now, in an exciting twist on its track record of partnerships with academic institutions, Roche has brought together three Harvard-affiliated organizations to screen and identify new drugs for the treatment of autism spectrum disorders (ASDs).

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A little business help goes a long way for kids with developmental disorders

Even a small idea, given a small boost, can have a high impact. (Rick Kimpel/Flickr)

When I tell people I work at the Technology and Innovation Development Office at Children’s (TIDO), they usually think I work to commercialize patented blockbuster drug candidates. But many of the most satisfying projects I help promote are innovations that don’t involve as much risk, time and investment, yet make a big difference for patients. Commercializing these innovations can help the greater good, and is part of what propels me to work at a licensing office at a pediatric hospital.

And sometimes it doesn’t take much to help them along.

The Sonnewheel Body Mass Index Calculator and the Vidatak communications board for patients unable to speak or write are some products supported by TIDO without income being the primary goal. Another great example, which we blogged about recently, is helping make routine blood draws less stressful for kids with learning differences and their parents.

The Blood Draw Learning Kit grew out of a serendipitous meeting.

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From kittens to Fragile X: Do all autisms share a common thread?

(AmberStrocel/Flickr)

Mark Bear’s research interests have taken him from studying vision in kittens to learning and memory in mouse models, and more recently, to the study of Fragile X syndrome, one of the leading genetic causes of autism and intellectual disability in humans. Along the way, he has made several ground-breaking contributions to neuroscience – one of which he described as one of MIT’s presenters at this week’s inaugural CHB-MIT Research Enterprise Symposium, which kicked off an exciting new scientific collaboration between MIT and Children’s.

I have followed Mark Bear’s work since I was an undergraduate at Brown University, where he used to teach the Introduction to Neuroscience course. That’s where I first learned about the seminal experiments in kittens (see this PDF), showing that covering one eye at birth rewires their brains not to “see” out of that eye, work that Bear was continuing to refine. Our paths crossed again more recently due to our common interest in studying autism.

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Meta-analyses: Comparing apples to oranges

Photo: Dano/Flickr

When you get down to it, science, particularly in the clinical realm, is something of a numbers game. An experiment or study’s weight depends greatly on its size (how many patients took part, how many times the experiment was repeated, etc.). For any number of reasons, though, researchers may only be able to bring a few people into a study and collect limited data, restricting both the answers it can provide and the impact of those answers on the field. Such has been the case with autism, for example, where studies tend to be small and patient populations haven’t always been well defined.

But what if one could compare apples to oranges – or, at least, Golden Delicious to Cortlands – by creating one large “uberstudy,” merging the results of many small studies in ways that would allow comparisons among them to generate some level of consensus about a treatment or discovery?

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