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New research on autism has found, in a mouse model, that drug treatment at a young age can reverse social impairments. But the same intervention was not effective at an older age. …
The earlier autism can be diagnosed, the more effective interventions typically are. But the signs are often subtle or can be misinterpreted at young ages. As a result, many children aren’t diagnosed until age 2 or even older. Now, a study shows that electroencephalograms (EEGs), which measure the brain’s electrical activity, can accurately predict or rule out autism spectrum disorder (ASD) in babies as young as 3 months old. It appears today in Scientific Reports.
The beauty of EEG is that it’s already used in many pediatric neurology or developmental pediatric settings. “EEGs are low-cost, non-invasive and relatively easy to incorporate into well-baby checkups,” says study co-author Charles Nelson, PhD, director of the Laboratories of Cognitive Neuroscience at Boston Children’s Hospital. “Their reliability in predicting whether a child will develop autism raises the possibility of intervening very early, well before clear behavioral symptoms emerge.” …
This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window.
“At first, we had to practically bribe him with an iPad with every task,” Travis says. “This year he’s more excited, because he understands more and is more confident and able to share more.”
Jacob, 11, was diagnosed in 2011 with Phelan-McDermid Syndrome, a rare genetic condition that typically causes children to be born “floppy,” with low muscle tone, and to have little or no speech, developmental delay and, often, autism-like behaviors. At the time, Jacob was one of about 800 known cases. But through chromosomal microarray testing, introduced in just the past decade for children with autism symptoms, more cases are being picked up. …
How can we better understand and support people with autism? And how can we tell if an intervention is working? Those are among the questions being asked in the Faja Laboratory, where Susan Faja, PhD, and her team study social and cognitive development in children, teens and young adults with autism spectrum disorder (ASD), using a variety of tools.
Originally on Snapchat, this video walks through some of these studies, including:
Learn more about current and future projects in the Faja Lab.
Autism spectrum disorder (ASD) is increasingly linked with dysfunction of the cerebellum, but the details, to date, have been murky. Now, a rare genetic syndrome known as tuberous sclerosis complex (TSC) is providing a glimpse.
TSC includes features of ASD in about half of all cases. Previous brain autopsies have shown that patients with TSC, as well as patients with ASD in general, have reduced numbers of Purkinje cells, the main type of neuron that communicates out of the cerebellum.
In a 2012 mouse study, team led by Mustafa Sahin, MD, at Boston Children’s Hospital, knocked out a TSC gene (Tsc1) in Purkinje cells. They found social deficits and repetitive behaviors in the mice, together with abnormalities in the cells.
The new study, published last week in Molecular Psychiatry, takes the research into human cells, for the first time creating cerebellar cells known as Purkinje cells from patients with TSC. …
Will, a 13-year-old from Wisconsin, lives with high-functioning Asperger’s and faces difficulties recognizing and managing his emotions. He doesn’t like to talk about emotions he perceives as negative, and becomes upset when he doesn’t meet the high standards he sets for himself. These oachhallenges have made it difficult for Will to thrive in social situations.
Karen immediately began researching strategies, as many as she could find, to help Will manage his emotions. She found a Social Thinking program, as well as ABA therapy, both of them important opportunities for Will to increase his “social batting average,” as Karen puts it.
However, Will soon became resistant to using the strategies offered by these programs. Cues to calm down through deep breathing, for example, tended to create more frustration and anger and did not decrease his swearing, frustration or oppositional behaviors. Despite his ongoing work with an ABA therapist and the Social Thinking program, his academics started to suffer and he sometimes had to leave the classroom. “He would miss class, and then miss homework, and it would circle out of control,” says Karen. …
A beautiful, happy little girl, Emma is the apple of her parents’ eyes and adored by her older sister. The only aspect of her day that is different from any other 6-month-old’s is the medicine she receives twice a day as part of a clinical trial for tuberous sclerosis complex (TSC).
Emma’s mother was just 20 weeks pregnant when she first heard the words “tuberous sclerosis,” a rare genetic condition that causes tumors to grow in various organs of the body. Prenatal imaging showed multiple benign tumors in Emma’s heart.
Emma displays no symptoms of her disease, except for random “spikes” on her electroencephalogram (EEG) picked up by her doctors at Boston Children’s Hospital. The medication she is receiving is part of the Preventing Epilepsy Using Vigabatrin in Infants with TSC (PREVeNT) trial. Her mother desperately hopes it is the active antiepileptic drug, vigabatrin, rather than placebo. …
Over the past decade, mutations to more than 60 different genes have been linked with autism spectrum disorder (ASD), including de novo mutations, which occur spontaneously and aren’t inherited. But much of autism still remains unexplained.
A new study of nearly 6,000 families implicates a hard-to-find category of de novo mutations: those that occur after conception, and therefore affect only a subset of cells. Findings were published today in Nature Neuroscience. …
When infants see or hear something interesting to them, like the sound of a human voice, their heart rate tends to slow down ever so slightly, a sign they’re paying attention. But a recent small study suggests this may not be true for infants at risk for autism.
Researchers led by Katherine Perdue, PhD, of the Laboratories of Cognitive Neuroscience at Boston Children’s Hospital, studied 40 babies who had an older sibling with autism spectrum disorder (ASD). These “baby sibs” are at 20-fold risk for developing autism themselves. For comparison, Perdue and colleagues also studied 48 infants who did not have a sibling with ASD and were therefore at low risk for autism.
At 3, 6, 9 and 12 months of age, the at-risk infants had slower heartbeats than the low-risk infants. When the babies were presented with speech sounds, heart rates slowed less in the at-risk babies than in the low-risk infants.
While none of the at-risk infants, followed until age 2, were later diagnosed with ASD, the researchers believe they may still be at risk for problems such as delayed speech. This may be due to differences in auditory processing. “It might not be autism per se, but it could be something that’s related to communication in some way,” Perdue told Spectrum News.
Read more directly on Spectrum News or in the original paper. For information on enrolling in one of the Labs’s studies, visit their participant registry.
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). …