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:
Individual Development of Executive Attention (IDEA), looking at executive functioning in 2- to 6-year-olds with autism, developmental disability or no developmental concerns. Executive functions include the ability to plan, manage complex or conflicting information, problem-solve and shift between different rules in different situations. By observing young children while they play hands-on tabletop games, Faja’s team is trying to find out: do kids with autism have problems with executive functioning early on, or do problems emerge later as a result of autism itself? The study is an extension of the ongoing GAMES project for 7- to 11-year-olds, in which children play video games designed to boost their executive functions. Faja is also looking to teach parents to use the games with their children at home.
Autism Biomarkers Consortium for Clinical Trials (ABC-CT), a multi-institution study that’s seeking objective, reliable measurements of social function and communication in people with autism. “Language, IQ and social assessments are not so sensitive when you’re looking for changes in autism symptoms, especially subtle ones,” says Faja. So her team is using physiologic measures — like EEGs to measure brain activity and eye-tracking technology to measure visual attention — and correlating them with behavioral and cognitive assessments. The ultimate goal is to validate a set of tools that can be used in clinical trials — and in day-to-day practice — to objectively measure and predict how children with ASD will respond to treatment.
Competence in Romance and Understanding Sexual Health (CRUSH), a new study, will enroll young adults with autism and their parents. The goal is to develop curriculum around dating and sexual health that meets the needs of the ASD population, starting with interviews to determine their needs and interests. No evidence-based curricula currently exist for adults on the spectrum, says Faja.
In the U.S., about one in 100 people have some form of epilepsy. A third of those people have seizures that cannot be controlled with drugs, eventually requiring surgery to remove the area of their brain tissue that is triggering seizure activity.
“If you can identify and surgically remove the entire epileptogenic zone, you will have a patient who is seizure-free,” says Christos Papadelis, PhD, who leads the Boston Children’s Brain Dynamics Laboratory in the Division of Newborn Medicine and is an assistant professor in pediatrics at Harvard Medical School.
Even experts in this field were skeptical for years about the non-invasive detection of HFOs. But now, thanks to our study and other researchers’ work, these people are changing their minds. At present, however, these surgeries are not always successful. Current diagnostics lack the ability to determine precisely which parts of an individual’s brain are inducing his or her seizures, called the epileptogenic zone. In addition, robust biomarkers for the epileptogenic zone have been poorly established.
But now, a team at Boston Children’s Hospital is doing research to improve pre-surgical pinpointing of the brain’s epileptogenic zone. They are using a newly-established biomarker for epilepsy — fast brain waves called high-frequency oscillations (HFOs) — that can be detected non-invasively using scalp electroencephalography (EEG) and magnetoencephalography (MEG). …
A good biomarker is one whose levels go up or down as a patient’s disease worsens or wanes. A great biomarker also gives key insights into disease development. A really great biomarker does both of these things and also serves as a treatment target.
Is 9-month-old Mila Goshgarian at risk for developing autism spectrum disorder (ASD)? Her 4-year-old twin brothers are both on the spectrum, so statistically her chances are at least 20 percent.
Her mother, Tonia, brought her into Boston Children’s Hospital for the Infant Sibling Project, which works with babies who are at increased risk of developing ASD in hopes of discovering early brain biomarkers for the disorder. This is Mila’s fifth visit; she’s been coming to the Labs of Cognitive Neuroscience for testing since the age of 3 months. …
Some people are born football players, others are made for basketball: Yi Zhang, PhD, reaches often for this metaphor as he explains his research with stem cell differentiation, recently published in Stem Cell Reports.
Stem cells are well-known for their ability to differentiate, or transform, into different types of cells. Two types of stem cells—embryonic stem cells and induced pluripotent stem cells—are able to ultimately change into any human cell. But that doesn’t mean all stem cells in these groups are equal: They have certain molecular features that bias them toward transforming into particular cell types. The ability to predict a stem cell’s differentiation bias would enable scientists to select a specific embryonic or induced pluripotent cell line to create cells for different applications—like grooming some youth athletes for football, others for basketball.
Zhang’s lab has identified a gene that acts as a powerful biomarker—physical or chemical characteristic whose appearance heralds a particular process—predicting a pluripotent stem cell’s tendency to differentiate into endoderm, cells on the inner layer of an embryo that become lung, digestive tract, pancreas and liver cells. It could be the first of a family of genetic biomarkers that guide scientists trying to create different cells and tissues for regenerative medicine. …
It’s 7 a.m. and neurosurgeon
Ed Smith, MD, is downing a Diet Coke as he reviews the MRIs of today’s patients. He sprints up a stairwell to greet his first patient in the pre-operating wing.
Thirteen-year-old Maribel Ramos, about to have brain surgery at Boston Children’s Hospital, sits in her bed fidgeting. Smith reassures her about the operation, promises they’ll shave off as little hair as possible, and gets Maribel to crack a smile by telling her he moonlights as a hairdresser. …
You’re a heart transplant patient. You’ve been on the waiting list for months, maybe years. Now, you’re being wheeled out of the operating room, a donated heart beating in your chest.
You’ve finished one journey, but are only just starting on a new one: keeping your body from rejecting your new heart.
Luckily for you, new methods under development could help tell early on when chronic rejection problems—the kind that arise five or 10 years after your transplant—start to loom. And even better, scientists are homing in on a new way to prevent chronic (and maybe short-term) rejection from happening in the first place. …
Your doctor has a lot of tools to detect, diagnose and monitor disease: x-rays, MRIs, angiography, blood tests, biopsies…the list goes on.
What would be great would be the ability to test for disease in a way where there’s no or low pain (not invasive) and lots of gain (actionable data about the disease process itself, its progression and the success of treatment).
About two-thirds of breast cancers are fueled by estrogen, making them quite vulnerable to drugs like tamoxifen that interfere with the hormone. But some 50 percent of such hormone-sensitive tumors start shrugging off tamoxifen treatment at some point and continue to grow.
Marsha Moses and her team in Children’s Vascular Biology Program want to turn the tide against these estrogen- or hormone-independent tumors, which are much more difficult to treat. And they think a protein named Adam – or rather, ADAM12 – might hold the key.
The story starts seven years ago with a search for cancer biomarkers in a fluid far removed from the breast: urine. Over the years, Moses, the program’s director, has collected a large biorepository of human urine and other samples, as well as associated clinical data, which she and her lab use to search for proteins whose presence is associated with different cancers.