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.
How did our distinctive brains evolve? What genetic changes, coupled with natural selection, gave us language? What allowed modern humans to form complex societies, pursue science, create art?
While we have some understanding of the genes that differentiate us from other primates, that knowledge cannot fully explain human brain evolution. But with a $10 million grant to some of Boston’s most highly evolved minds in genetics, genomics, neuroscience and human evolution, some answers may emerge in the coming years.
The Seattle-based Paul G. Allen Frontiers Group today announced the creation of an Allen Discovery Center for Human Brain Evolution at Boston Children’s Hospital and Harvard Medical School. It will be led by Christopher A. Walsh, MD, PhD, chief of the Division of Genetics and Genomics at Boston Children’s and a Howard Hughes Medical Institute investigator.
“To understand when and how our modern brains evolved, we need to take a multi-pronged approach that will reflect how evolution works in nature, and identifies how experience and environment affect the genes that gave rise to modern human behavior,” Walsh says. …
About 1 out of 100 babies are born with a congenital heart defects. Thanks to medical and surgical advances, these children usually survive into adulthood, but they are often left with developmental, behavioral or learning challenges.
Children with “single-ventricle” defects — in which one of the heart’s two pumping chambers is too small or weak to function properly — are especially at risk for neurodevelopmental problems. “Single-ventricle physiology creates cerebrovascular hemodynamics that can reduce oxygen delivery to the brain,” explains Jane Newburger, MD, MPH, director of the Cardiac Neurodevelopmental Program at Boston Children’s Hospital.
How does this play out in adolescence? In three recent studies, Boston Children’s Heart Center collaborated with the departments of Neurology and Psychiatry to track neurodevelopmental outcomes after corrective Fontan operations. They evaluated preteens and teens as old as 19 — the longest follow-up to date. …
Getting a damaged optic nerve to regenerate is vital to restoring vision in people blinded through nerve trauma or disease. A variety of growth-promoting factors have been shown to help the optic nerve’s retinal ganglion cells regenerate their axons, but we are still far from restoring vision. A new study published yesterday in Neuron underscores the complexity of the problem.
A research team led by Fengfeng Bei, PhD, of Brigham and Women’s Hospital, Zhigang He, PhD, and Michael Norsworthy, PhD, of Boston Children’s Hospital, and Giovanni Coppola, MD, of UCLA conducted a screen for transcription factors that regulate the early differentiation of RGCs, when axon growth is initiated. While one factor, SOX11, appeared to be critical in helping certain kinds of RGCs regenerate their axons, it simultaneously killed another type — alpha-RGCS (above)— when tested in a mouse model.
At least 30 types of retinal ganglion cell message the brain via the optic nerve. “The goal will be to regenerate as many subtypes of neurons as possible,” says Bei. “Our results here suggest that different subtypes of neurons may respond differently to the same factors.”
Family caregivers — as well as older children and adolescents — now have a powerful health data tracker. With a free iPhone app called Caremap, they can securely store and organize vital medical information, share it with health professionals, track health metrics important to them and gain insights to inform care.
For Michelle Domey, that means keeping close tabs on her son Carson’s Crohn’s disease. It means understanding early warning signs and what triggers a flare, like not getting enough sleep. “When he has a flare, the app is something we could take into an appointment,” she says. “We have historical data that can show us what may have triggered it.”
When a baby is born small, it’s often chalked up to genetics or to maternal risk factors like poor nutrition or smoking. A study of twin pregnancies, published today in Scientific Reports, finds another factor that can be measured prentally: slower transport of oxygen from mother to baby across the placenta.
For a tissue graft to survive in the body — whether it’s a surgical graft or bioengineered tissue — it needs to be nourished by blood vessels, and these vessels must connect with the recipient’s circulation. While scientists know how to generate blood vessels for engineered tissue, efforts to get them to connect with the recipient’s vessels have mostly failed.
“Surgeons will tell you that when putting tissue in a new location in the body, the small blood vessels don’t connect at the new site,” says Juan Melero-Martin, PhD, a researcher in Cardiac Surgery in Boston Children’s Hospital. “If you want to engineer a tissue replacement, you’d better understand how the vessels get connected, because if the vessels go, the graft goes.”
Melero-Martin and colleagues have uncovered several strategies to help these connections form, as they describe online today in Nature Biomedical Engineering. The strategies could help improve the success of such procedures as heart patching, bone grafting, fat transplants and islet transplantation. …
Who better to innovate in healthcare than doctors, nurses and others on the front lines? They know what’s broken. They want to fix it. And they understand healthcare’s complexity. Some have taken part in hackathons and pitch competitions. But once these events are over, most find they’re too busy to develop their ideas and that they lack the necessary business expertise.
In Harvard Business Review this week, leaders of the Innovation & Digital Health Accelerator (IDHA) at Boston Children’s Hospital, with Kevin Churchwell, MD, executive VP of health affairs, describe how (and why) the hospital formed an in-house accelerator program in 2016. In a single year, the program engaged more than 300 clinicians, researchers and administrators in more than 25 clinical departments, offering custom, “just in time” support. Nine projects were accelerated, including three new startups.
A central tactic is the “Opportunity SPRINT,” a 90-minute triage session that brings hospital teams together with business strategists, subject matter experts, technologists and, sometimes, parents and patients. Even when an idea isn’t immediately embraced, SPRINTs are designed to be educational and constructive, inspiring clinicians to reimagine their idea and come back with a better one.
As the U.S. Senate takes up the proposed American Health Care Act (AHCA), a three-state study provides evidence that eliminating the individual mandate could jeopardize young adults’ health care coverage — even with laws allowing people under 26 to be covered under their parents’ plan.
Researchers led by Lauren Wisk, PhD, of the Division of Adolescent and Young Adult Medicine at Boston Children’s Hospital, analyzed insurance data from 131,542 adolescents and young adults whose family was covered by Harvard Pilgrim Health Care between January 2000 and December 2012.
“With an individual mandate, many more young adults used the dependent coverage provision, and people who were previously dropped from their parents’ plan were more likely to get back on,” Wisk reports. …