Stories about: autism spectrum disorder

Brain ‘connectome’ on EEG could help diagnose attentional disorders

EEG connectome could diagnose attentional disorders ADHD
EEGs shouldn’t just be for epilepsy, say these researchers.

Attention deficit disorder (ADD), with or without hyperactivity, affects up to 5 percent of the population, according to the DSM-5. It can be difficult to diagnose behaviorally, and coexisting conditions like autism spectrum disorder or mood disorders can mask it.

While recent MRI studies have indicated differences in the brains of people with ADD, the differences are too subtle and MRI too expensive to be a practical diagnostic measure. But new research suggests a role for an everyday, relatively cheap alternative: electroencephalography (EEG).

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Impaired recycling of mitochondria in autism?

mitochondria in autism tuberous sclerosis

A study of tuberous sclerosis, a syndrome associated with autism, suggests a new treatment approach that could extend to other forms of autism.

The genetic disorder tuberous sclerosis complex (TSC) causes autism in about half of the children affected. Because its genetics are well defined, TSC offers a window into the cellular and network-level perturbations in the brain that lead to autism. A study published today by Cell Reports cracks the window open further, in an intriguing new way. It documents a defect in a basic housekeeping system cells use to recycle and renew their mitochondria.

Mitochondria are the organelles responsible for energy production and metabolism in cells. As they age or get damaged, cells digest them through a process known as autophagy (“self-eating”), clearing the way for healthy replacements. (Just this month, research on autophagy earned the Nobel Prize in Physiology or Medicine.)

Mustafa Sahin, MD, PhD, Darius Ebrahimi-Fakhari, MD, PhD, and Afshin Saffari, in Boston Children’s Hospital’s F.M. Kirby Neurobiology Center now report that autophagy goes awry in brain cells affected by TSC. But they also found that two existing medications restored autophagy: the epilepsy drug carbamazepine and drugs known as mTOR inhibitors. The findings may hold relevance not just for TSC but possibly for other forms of autism and some other neurologic disorders.

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Muscular dystrophy study suggests new therapeutic approaches to autism

muscular dystrophy autism social interaction
In addition to weakening muscle cells, loss of dystrophin also impairs Purkinje cells in the cerebellum.

Robin Kleiman, PhD, is Director of Preclinical Research at Boston Children’s Hospital’s Translational Neuroscience Center.

One of the hardest parts of developing new treatments for autism spectrum disorder (ASD) is that almost every patient has a different combination of environmental and genetic risk factors. This suggests that every patient could take a unique path to their diagnosis. It is hard to come up with a single treatment that will help patients with fundamentally different root causes of ASD.

One way to approach this problem is to look for ways to cluster sub-types of autism for clinical trials, based on genetic risk factors or the types of neural circuits that are affected. If circuit dysfunction could be monitored and diagnosed easily in patients, it might be possible to develop treatments to reverse the dysfunction that cut across genetic and environmental causes of ASD. That is the hope of research on well-defined “syndromic” causes of autism such as tuberous sclerosis complex, Fragile X syndrome and Rett syndrome.

Accelerating research collaborations to design clinical trials for children with brain disorders, including ASD, is a major mission of Boston Children’s Hospital’s Translational Neuroscience Center (TNC). A recent study in Translational Psychiatry, led by Mathew Alexander, PhD, in the Boston Children’s lab of Lou Kunkel, PhD, in collaboration with the TNC and Pfizer, is a prime example. It suggests that patients with Duchenne muscular dystrophy (DMD) may constitute another subset of ASD patients — one that could benefit from phosphodiesterase (PDE) inhibitors, a family of drugs including Viagra.

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Human brain evolution holds clues about autism… and vice versa

human brain evolution autism Human Accelerated Regions
Humans evolved to become more social and cognitively advanced, thanks to genetic changes in regions such as HARs — the child with autism spectrum disorder (ASD) being the exception. While mutations in protein-coding genes continue to be explored in ASD (indicated by the red ribbon of RNA), the scientists at far left are suggesting that mutations in regulatory elements (the histones , in green, and their modifications shown in yellow) may be important in both ASD and human evolution. (Illustration: Kenneth Xavier Probst)

Starting in 2006, comparative genomic studies have identified small regions of the human genome known as Human Accelerated Regions, or HARs, that diverged relatively rapidly from those of chimpanzees — our closest living relatives — during human evolution.

Our genomes contain about 2,700 HAR sequences. And as reported today in Cell, these sequences are often active in the brain and contain a variety of mutations implicated in autism and other neurodevelopmental disorders.

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Faja lab focuses on biomarkers and executive functioning in autism

What makes children with autism tick, and how can we help them function better socially? That’s the focus of research in the lab Susan Faja, PhD, at Boston Children’s Hospital.

The GAMES project seeks to build social skills in children with autism spectrum disorder (ASD) by building cognitive skills, specifically executive functioning. Through computer games and coaching, Faja hopes strengthen kids’ ability to plan, inhibit behavior, manage complex or conflicting information and shift flexibly between different rules or situations. She believes executive function training will help children with ASD better understand other people’s perspectives and act more appropriately in social situations.

Faja is also interested in biomarkers that indicate whether interventions are working, including brain EEG recordings and eye tracking. She’s using these tools to learn what visual information kids with ASD are attending to and how their brains respond to social information.

“I think the thing that really makes my lab unique is that we are looking at both neuroscience and intervention at the same time,” says Faja. “We take information from the neuroscience literature about how the brain develops, and we look for ways to apply that to developing new treatments.”

Learn more about Faja’s ongoing studies and how children can enroll.

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Probing the link between autism, GI disorders and the microbiome

autism microbiome
(Dubova/Shutterstock)

Sonia A. Ballal is an attending physician in the Division of Gastroenterology, Hepatology and Nutrition at Boston Children’s Hospital.

Eleven-year-old Lyle has autism and doesn’t speak, but his mother is used to reading his nonverbal cues. He prefers a routine, but has always been a generally cheerful child who enjoys school and playing with his little sister.

Several weeks before I met Lyle (not his real name), his mother observed a dramatic shift. He was agitated, at times hitting his head against the wall, not receiving his typical sunny reports from school.

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Brain samples show a wealth of single-letter and somatic mutations in autism

somatic mutations in autismDisease-causing mutations can be incredibly subtle: Sometimes a single-letter change in a gene or a so-called somatic mutation (affecting only some of the body’s cells) can be enough. Researchers report this week in Neuron that both kinds of mutations — easily missed on standard blood and saliva testing — play a role in autism spectrum disorder (ASD).

Scientists have suspected a role for these mutations in brain disorders, but the technology to find them has only recently come online. Sampling brain tissue is the most likely way to find them, but brain biopsies aren’t something you do every day.

In their study, a team led by Christopher Walsh, MD, PhD, and Alissa D’Gama, of Boston Children’s Hospital and Harvard Medical School, tapped several brain banks — the NIH’s NeuroBioBank, the Oxford (U.K.) Brain Bank and Autism BrainNet — to gather brain tissue from more than 100 deceased individuals, some neurotypical and some with ASD.

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Strengthening the brain’s executive function in autism

gaming autism executive function
Thomas Ryan with Susan Faja during a baseline assessment

Thomas is feeding virtual bananas to virtual monkeys. If the banana is yellow, he presses the computer’s arrow key to feed it to the monkey. If it’s brown, he’s supposed to just wait for the next banana. “Good job, you really watched carefully,” says Susan Faja, PhD, who’s coaching him through the task.

In the next round, Thomas has to throw bananas in the trash—but only the brown ones. “Oops, I threw a good banana away!” Thomas exclaims. “No worries,” Faja reassures him, “let’s try and remember the new rule on the next one.”

Being able to inhibit impulses—even small ones—is one aspect of what’s called executive function, a set of cognitive skills that allow us to manage complex or conflicting information, solve more nuanced problems and fine-tune our behavior. Executive function also includes the ability to plan, hold information in mind, and shift flexibly between different rules in different situations. And Faja thinks that strengthening executive function could help children with autism spectrum disorder (ASD) function better socially.

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The autism-GI link: Inflammatory bowel disease found more prevalent in ASD patients

brain gut connection autism IBD ASDReports from parents and a growing number of studies over the past 10 to 15 years suggest that children with autism spectrum disorder (ASD), especially more severe ASD, are prone to gastrointestinal disorders. Researchers have attributed the association to altered GI microbiota, abnormal intestinal physiology, immune alterations and other mechanisms. Some speculate that the connection results from unusual eating patterns in children with ASD.

A 2012 study led by bioinformatician Isaac Kohane, MD, PhD, of Boston Children’s Hospital and Harvard Medical School grouped autism patients according to the gene expression patterns in their blood, and one group had altered immunologic and inflammatory pathways. A more recent study went a step further, finding similar gene expression profiles in the intestines of children with ASD and those with inflammatory bowel disease (IBD).

Looking at IBD (Crohn’s and colitis) sets the bar a little higher, since IBD is uncommon and also unlikely to be caused by dietary factors (though it can certainly be aggravated by them). In a new study in the journal Inflammatory Bowel Disease, Kohane and colleagues crunched three large databases to create what they believe is the largest ASD/IBD study to date.

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Does autism stress families’ chromosomes?

telomeres autismThe ends of our chromosomes have little caps called telomeres that keep our DNA from degrading as our cells divide. Telomere length is partly determined by genetics. However, telomeres also shorten as we age and as a result of health conditions, including stress—as in institutionalized children in Romania and women caring for children with chronic illnesses.

An intriguing new study in the July Journal of the American Academy of Child and Adolescent Psychiatry finds shortened telomeres not just in children with autism (confirming a recent study from China) but also in their infant siblings and their mothers. An effect was also seen in fathers, but it didn’t reach statistical significance.

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