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Autism, Behavioral Science, Pediatrics, Stanford News

Home videos could help diagnose autism, says new Stanford study

Home videos could help diagnose autism, says new Stanford study

Autism is more complex to diagnose than many other childhood conditions. There’s no physical sign or lab test; rather, making the diagnosis requires careful observation for clues such as poor language and social skills or repetitive behaviors. Standard diagnostic tests take several hours of a professional’s time, and families may wait months to see someone who can assess their child.

But new research from Stanford and Harvard Medical School suggests that faster diagnoses might become possible. The research team, whose findings appear today in PLOS ONE, tested whether short home videos could be harnessed to speed the process. Using a scoring system that was pared down from the “gold standard” diagnostic test, they assessed kids’ behavior in 100 short videos pulled from YouTube. About half of the videos showed children with autism; the rest did not. The scoring system classified 97 percent of the videos accurately.

The system is unlikely to replace traditional diagnostic methods, but could help relieve the diagnostic bottleneck, study author Dennis Wall, PhD, explained in our press release:

“For instance, we could use this system for clinical triage, as a way to channel traffic so that children can get the kind of attention they need as early as possible,” Wall said. Children who clearly have autism might be diagnosed primarily with videos and quickly started on therapy, freeing clinicians to spend more time evaluating children whose diagnosis is less clear-cut.

Home videos also provide information that is otherwise unavailable to those making the diagnosis, Wall said:

Another potential advantage of using video for diagnosis is that young children often behave differently in a doctor’s office than at home.

“Clinical settings are often stark, artificial and can elicit behaviors that are abnormal,” Wall said. “The odds are stacked against the diagnostic professional because the child is in an unknown environment with strangers.”

The researchers plan to explore whether the same method could also be used for making other behavior-based diagnoses, such as detecting attention-deficit hyperactivity disorder or adult-onset neurologic conditions such as Alzheimer’s or Parkinson’s disease.

Previously: Using Kinect cameras to automate autism diagnosis, Director of Stanford Autism Center responds to your questions on research and treatment and New imaging analysis reveals distinct features of the autistic brain

Dermatology, Ethics, Health Costs, Research, Stanford News

Drug samples lead to more expensive prescriptions, Stanford study finds

Drug samples lead to more expensive prescriptions, Stanford study finds

drugs on money - big

It’s been years (fortunately) since I’ve needed a prescription for anything more than a simple antibiotic. But when I did, I remember I was always thankful on those occasions when my doctor offered a free sample of a medication to try before (or sometimes instead of) pulling out the prescription pad. I appreciated the chance to see if a medication would work for me, and I was happy for any opportunity to save myself (or, at times, my insurance company) a few dollars. The fact that the samples were invariably for drugs that were still on patent (known as brand name drugs or branded generics) to a particular company certainly escaped me.

Now, a study by Stanford dermatologist Al Lane, MD, highlights the dark side of such free samples, which are provided to doctors by the pharmaceutical companies who make the drugs. The research, along with an accompanying editorial, is published today in JAMA Dermatology. As Lane comments in my release on the work:

Physicians may not be aware of the cost difference between brand-name and generic drugs and patients may not realize that, by accepting samples, they could be unintentionally channeled into subsequently receiving a prescription for a more expensive medication.

Specifically, Lane and medical student Michael Hurley found that dermatologists with access to free drug samples wrote prescriptions for medications with a retail price of about twice that of prescriptions written by dermatologists without access to samples. All of the patients had the same first-time diagnosis of adult acne. The difference is nothing to sniff at – $465 for docs who accepted samples and about $200 for docs who did not. What’s more, the overall prescribing patterns of the two groups of physicians showed almost no overlap. Physicians without access to samples prescribed mainly generic drugs (83 percent of the time), whereas those with access to samples prescribed generics much less frequently (21 percent of the time). Only one drug of the top ten most commonly prescribed by physicians without access to samples even made it into the top ten list of physicians who did accept samples.

The distribution of free drug samples in this country is big business. It’s been estimated that pharmaceutical companies give away samples of medications with a retail value of about $16 billion every year. But many physicians feel the availability of samples doesn’t sway their prescribing choices, and instead feel the samples allow them more flexibility to treat their patients. Lane himself thought so, until Stanford Medicine prohibited physicians to accept samples or other industry gifts in 2006. As he explains in the release:

At one time, we at Stanford really felt that samples were a very important part of our practice. It seemed a good way to help poorer patients, who maybe couldn’t afford to pay for medications out-of-pocket, and we had the perception that this was very beneficial for patients. But the important question physicians should be asking themselves now is whether any potential, and as yet unproven, benefit in patient compliance, satisfaction or adherence is really worth the increased cost to patients and the health-care system.

Clearly Lane has had a change of heart, in part based on the data in the study. Now he’s hoping to get the word out to other physicians. He and Hurley conclude in the paper, “The negative consequences of free drug samples affect clinical practice on a national level, and policies should be in place to properly mitigate their inappropriate influence on prescribing patterns.”

Previously: Consumers’ behavior responsible for $163 billion in wasteful pharmacy-related costs and Stanford’s medical school expands its policy to limit industry access
Photo by StockMonkeys.com

Global Health, Infectious Disease, Public Health, Research, Stanford News

Using video surveillance to gain insights into hand washing behavior

Using video surveillance to gain insights into hand washing behavior

13715-handwashing_newsSimply washing your hands can reduce the reduce respiratory illnesses, such as colds, in the general public by 21 percent, cut the number of people who get sick with diarrhea by 31 percent and lower diarrheal illness in people with weakened immune systems by 58 percent, according to data from the Centers for Disease Control and Prevention.

Despite these compelling facts, and many years of global awareness campaigns, hand-cleaning rates remain far below full compliance — particularly in low-income, developing world settings. But using video surveillance to observe hygiene practices can offers insights that may help improve design, monitoring and evaluation of hand-washing campaigns, according to a new Stanford study.

For the study, researchers installed video cameras at the washing stations outside latrines of four public schools in the Kibera slum of Nairobi, Kenya. Teachers were informed in advance and parents and administrators granted their permission for the experiment. Their findings were highlighted in a Stanford News article published yesterday:

  • Both video observation and in-person observation demonstrated longer hand cleaning times for hand washing with soap as compared to rubbing with sanitizer.
  • Students at schools equipped with soap and water, instead of sanitizer, were 1.3 times more likely to wash their hands during simultaneous video surveillance and in-person observation when compared with periods of in-person observation alone.
  • Overall, when students were alone at a hand-cleaning station, hand cleaning rates averaged 48 percent, compared to 71 percent when at least one other student was present.

Based on their findings, study authors recommended the following approaches for boosting hand washing:

  • Placement of hand cleaning materials in public locations
  • Scheduling specific times for bathroom breaks between classes
  • Designating specific students to be hand hygiene “champions”
  • Formation of student clubs to demonstrate and promote hand hygiene to classmates

Previously: Examining the effectiveness of hand sanitizers, Survey outlines barriers to handwashing in schools, Examining hand hygiene in the emergency department, Good advice from Washyourhandsington and Hey, health workers: Washing your hands is good for your patients
Photo by Amy Pickering

Behavioral Science, Ethics, Medicine and Society, Research, Stanford News

Breaking down happiness into measurable goals

Breaking down happiness into measurable goals

sunflowersSo you want to be happy. Can you be more specific? A study published in the Journal of Experimental Social Psychology found that concrete, rather than abstract, goals for happiness tend to be more successful. Jennifer Aaker, PhD, Stanford social psychologist and marketing professor, and colleagues performed six field and laboratory experiments and found that participants who performed specific acts of kindness – such as recycling or making someone smile – reported greater happiness than participants whose prosocial goals were less precise – such as helping the environment or people more broadly.

From a Stanford News article:

The reason is that when you pursue concretely framed goals, your expectations of success are more likely to be met in reality. On the other hand, broad and abstract goals may bring about happiness’ dark side – unrealistic expectations.

Acting directly and specifically in service to others brings greater happiness to the giver, the study found. The piece continues:

For example, an experiment involving bone marrow transplants focused on the whether giving those who need bone marrow transplants “greater hope” – the abstract goal – or giving those who need bone marrow transplants a “better chance of finding a donor” – the concrete goal – made a giver more happy.

The answer: Helping someone find a donor resulted in more happiness for the giver. This, the researchers wrote, was driven by givers’ perceptions that their actual acts better met their expectations of accomplishing their goal of helping another person.

Previously: Study shows happiness and meaning in life may be different goalsAre you happy now? Stanford Roundtable spotlights the science of happiness and wellbeing and Stanford faculty and students launch social media campaign to expand bone marrow donor registry
Photo by Iryna Yeroshko

Aging, Genetics, Men's Health, Neuroscience, Research, Stanford News, Women's Health

Having a copy of ApoE4 gene variant doubles Alzheimer’s risk for women but not for men

Having a copy of ApoE4 gene variant doubles Alzheimer's risk for women but not for men

brain cactus - smallSince the early 1990s, when Duke University neurologist Allen Roses, MD, first broke the news, it’s been known that a person carrying the gene variant known as ApoE4 is at elevated risk of getting Alzheimer’s disease. To this day ApoE4 is the strongest known single genetic risk factor for Alzheimer’s, a progressive neurological syndrome that robs its victims of their memory and reasoning ability.

But only now is it looking certain that the increased Alzheimer’s risk ApoE4 confers is largely restricted to women. Men’s fates don’t seem to be altered nearly as much by the genetic bad penny that is ApoE4, according to a new Annals of Neurology study led by Mike Greicius, MD, medical director of the Stanford Center for Memory Disorders.

Accessing two huge publicly available national databases, Greicius and his colleagues were able to amass medical records for some 8,000 people and show that initially healthy ApoE4-positive women were twice as likely to contract Alzheimer’s as their ApoE4-negative counterparts, while ApoE4-positive men’s risk for the syndrome was barely higher than that for ApoE-negative men.

What the heck is ApoE4 for, anyway? In my release on the new study, I wrote:

The ApoE gene is a recipe for a protein important for shuttling fatty substances throughout the body. This is particularly important in the central nervous system, as brain function depends on rapid rearrangement of such fatty substances along and among nerve cell membranes. The ApoE gene comes in three varieties — ApoE2, ApoE3 and ApoE4 — depending on inherited variations in the gene’s sequence. As result, the protein that the gene specifies also comes in three versions, whose structures and fatty-substance-shuttling performance differ. Most people carry two copies of the ApoE3 gene variant (one from each parent). But about one in five people carries at least one copy of ApoE4, and a small percentage have two ApoE4 copies. Numerous studies … have confirmed that ApoE4 is a key risk factor for Alzheimer’s disease, with a single copy of ApoE4 increasing that risk twofold or fourfold. Carrying two copies confers 10 times the risk of Alzheimer’s.

Early hints in the medical literature that the ApoE4 variant exerted differential effects on women’s versus men’s brains were largely ignored until now, says Greicius. He says that’s because most of the seminal ApoE4/Alzheimer’s genetics research was conducted as case-control studies: The ApoE4 gene version’s frequency in people with Alzheimer’s was compared to its frequency in people without the disease. (About half of those with Alzheimer’s, but only about 15 percent without it, are positive for ApoE4.)

But that method has limitations, says Greicius: “About 10-15 percent of ‘normal’ 70-year-olds will develop Alzheimer’s if you wait five or ten years.” Their lurking in the “normal” group dilutes the results. Moreover, Greicius says,“these kinds of genetic studies are looking for needles in a haystack, so they require large numbers of subjects – thousands – to achieve statistical significance. If you want to further examine male/female differences, you have to double the sample size.” That’s costly.

And that’s how come the large government- and industry-supported repositories to which Greicius and his team resorted are such a great idea.

Previously: Estradiol – but not Premarin – prevents neurodegeneration in women at heightened dementia risk, Common genetic Alzheimer’s risk factor disrupts healthy older women’s brain function, but not men’s, Hormone therapy halts accelerated biological aging seen in women with Alzheimer’s genetic risk factor and A one-minute mind-reading machine? Brain-scan results distinguish mental states
Photo by Sean Michael Ragan

Aging, Stanford News, Technology

Stanford Center of Longevity announces dementia-care design challenge winners

Stanford Center of Longevity announces dementia-care design challenge winners

Winners have been announced for Stanford Center on Longevity‘s first Design Challenge, which launched last fall. As previously written about on Scope, 52 teams representing 31 universities in 15 countries submitted entries, all of them centered on improving the daily lives for people with dementia as well as their families and caregivers.

Stanford News reports:

There were seven finalists, including one student team from Stanford.

Sha Yao from the Academy of Art University in San Francisco won the $10,000 first place prize for her project, “Eatwell,” which involved the design of tableware specifically for people with Alzheimer’s.

For example, blue was chosen as the color of the insides of bowls because dementia sufferers can become confused when food and bowl have similar colors, according to Smith. As spills are common when bowls are tipped to get the final bits out, Yao designed a slanted bottom that eliminates the need to tip. The cups have low centers of gravity and are difficult to knock over.

The piece describes runner-up prize winners and the center’s new design contest, themed “enabling personal mobility across the life span.”

Previously: Finalists announced for Stanford Center on Longevity’s Design Challenge and Soliciting young minds to help older adults

Cancer, Genetics, Research, Stanford News, Technology

Gene panel screens for dozens of cancer-associated mutations, say Stanford researchers

Gene panel screens for dozens of cancer-associated mutations, say Stanford researchers

Stanford scientists have shown that it’s possible to simultaneously screen for dozens of cancer-associated mutations from a single blood sample using a multiple-gene panel. The research is published today in the Journal of Clinical Oncology (subscription required).

As I describe in my release:

Gene panels allow researchers to learn the sequences of several genes simultaneously from a single blood sample. It stands to reason that screening for mutations in just a few select genes is quicker, easier and cheaper than whole-genome sequencing. The technique usually focuses on fewer than 100 of the approximately 21,000 human genes. But until now, few studies have investigated whether homing in on a pre-determined panel of suspects can actually help people.

The researchers, medical oncologists and geneticists James Ford, MD and Allison Kurian, MD, used a customized 42-gene panel to investigate the presence of cancer-associated mutations in 198 women with a family or personal history of breast or other cancers. The women had been referred to Stanford’s Clinical Cancer Genetics Program between 2002 and 2012 to undergo screening for mutations in their BRCA1 or BRCA2 genes. They found that the panel was  a useful way to quickly screen and identify other cancer-associated mutations in women who did not have a BRCA1/2 mutation. From our release:

Of the 198 women, 57 carried BRCA1/2 mutations. Ford and Kurian found that 14 of the 141 women without a BRCA1/2 mutation had clinically actionable mutations in one of the 42 genes assessed by the panel. (An actionable mutation is a genetic variation correlated strongly enough to an increase in risk that clinicians would recommend a change in routine care — such as increased screening — for carriers.)

Eleven of the 14 women were reachable by telephone, and 10 accepted a follow-up appointment with a genetic counselor and an oncologist to discuss the new findings. The family members of one woman, who had died since giving her blood sample, also accepted counseling. Six participants were advised to schedule annual breast MRIs, and six were advised to have regular screens for gastrointestinal cancers; many patients received more than one new recommendation.

One woman, with a history of both breast and endometrial cancer, learned she had a mutation that causes Lynch syndrome, a condition that increases the risk of many types of cancers. As a result, she had her ovaries removed and underwent a colonoscopy, which identified an early precancerous polyp for removal.

The study shows that gene panels can be a useful tool that can change clinical recommendations for individual patients. It also indicates that patients are willing and eager to receive such information. As Ford explains in the release:

Gene panels offer a middle ground between sequencing just a single gene like BRCA1 that we are certain is involved in disease risk, and sequencing every gene in the genome. It’s a focused approach that should allow us to capture the most relevant information.

Previously: Whole genome sequencing: the known knowns and the unknown unknowns,  Assessing the challenges and opportunities when bringing whole-genome sequencing to the bedside and Blood will tell: In Stanford study tiny bits of circulating tumor DNA betray hidden cancers.

Global Health, Pediatrics, Public Safety, Research, Stanford News, Women's Health

Empowerment training prevents rape of Kenyan girls

Empowerment training prevents rape of Kenyan girls

Adolescent girls in the slums of Nairobi, Kenya, are frequent targets of sexual harassment and assault: Nearly one in five of them is raped each year. When these crimes are perpetrated against Nairobi’s teen girls, they’re often expected to react with shame and silence.

But a small non-governmental organization, No Means No Worldwide, has a strategy to change that. The co-founders, Jake Sinclair, MD, and Lee Paiva, an American husband-and-wife team, developed a curriculum of empowerment training to teach girls that it’s OK to say “no” to unwanted sexual advances. The training also gives girls specific verbal and physical skills to defend themselves, as well as information about where to go for help after a rape or other sexual assault.

The results are impressive. Stanford researchers who work with Sinclair and Paiva report today in Pediatrics that the empowerment training cut annual rates of rape by more than a third. Among the group of 1,978 girls trained during the study, more than half used their new knowledge to fend off attempted rape, and 65 percent stopped instances of harassment, halting hundreds of incidents.

From our press release about the research:

“Clearly, girls should never be placed in these situations in the first place,” said Clea Sarnquist, DrPH, the study’s lead author and a senior research scholar in pediatrics at Stanford. Changing males’ attitudes and behavior about assault is an important area for the team’s current and future work, she said. “But with such a high prevalence of rape, these girls need something to protect them now. By giving them the tools to speak up and the knowledge that ‘I have domain over my own body,’ we’re giving them the opportunity to protect themselves.”

The video above, one of a series of testimonials that No Means No Worldwide has collected from Nairobi girls, shows the power of that sense of domain over one’s body. In the video, a schoolgirl named Catherine tells how she stopped a male student from harassing her. When the video begins, it’s impossible not to notice how young and vulnerable she seems. But then she recounts how, when this boy followed her and demanded sex, she remembered her self-defense classes.

“I stood and maintained eye contact,” she says in the video. “I warned him that day and told him he should never in his life dare follow me.”

As she says the words, her demeanor transforms: She draws herself up straight, looks directly in the camera, and raises her index finger in a gesture of commanding attention.

Maryanne Wangui, a young Kenyan woman who recorded many of the testimonials, said something to me that resonates with Catherine’s account and sticks in my mind: “If you give girls the right skills, they know what to do. It doesn’t matter the age of the girl or the size of the girl; they’re all powerful inside.”

Previously: Self-defense training reduces rapes in Kenya
Video courtesy of No Means No Worldwide

Research, Science, Stanford News

Getting a glimpse of the shape molecules actually take in the cell

Getting a glimpse of the shape molecules actually take in the cell

Working at a medical school, every day I talk to scientists who are discovering ever more intricately detailed information about our bodies and our cells. With these daily amazements about what we do know, it’s always good to be reminded of how much is still unknown.

Case in point, I recently talked with Xuesong Shi, PhD, a postdoctoral fellow in the lab of biochemist Dan Herschlag, PhD. He has been trying to understand the many configurations and structures molecules and complexes of molecules take on. This may seem a bit abstract, but what the molecules look like – how many different shapes they fold into and how they interact with each other – can provide information that explains both how molecules behave normally, and also why they fail to work properly in some diseases.

For a long time now most of the information we have about the shape and structure of molecules came from turning those molecules into crystals of rigidly packed, identical structures. That’s a technique called X-ray crystallography, which people at Stanford carry out using the powerful X-ray beams at SLAC.

Herschlag points out that X-ray crystallography has been extremely valuable for helping scientists understand the molecules that make up our cells. But the crystals don’t necessarily give the whole picture. For example, molecules are thought to take on many different shapes when forming complexes, not just the single shaped found in a crystal. “The idea is that molecules have many forms in solution,” Shi said. Some molecules also don’t form crystals well.

Shi has been tackling this problem using an X-ray interferometry technique developed in the lab of biochemist Pehr Harbury, PhD, who collaborated with Herschlag and Shi on the work. It involves attaching tiny gold particles to known locations on molecules – in this case a snippet of DNA. Then, by using X-rays to look at where the gold particles are in relation to each other, scientists can piece together the myriad shapes the molecules take on when freed from a crystal lattice.

Shi was first author on a paper published online March 31 in the Proceedings of the National Academy of Sciences describing this technique. He told me that although that paper investigated the structure of DNA, he hopes to use the technique to better understand a variety of molecules where knowing the myriad shapes the molecule takes on is essential for understanding its function.

Health and Fitness, Stanford News, Videos

How social connection can improve physical and mental health

How social connection can improve physical and mental health

Past research has shown that a lack of social connection may be a greater detriment to a person’s health than obesity, smoking and high blood pressure. In this TEDxHayward video, Emma Seppala, PhD, associate director of Stanford’s Center for Compassion and Altruism Research and Education, discusses these and other findings showing that maintaining strong social relationships can improve physical and mental health. Contrary to popular belief, she says, social connection has more to do with your subjective feeling of connection than how many friends you have.

Take a moment to watch the talk and learn how fostering compassion for others and yourself can increase social connection and, as a result, benefit your health.

Previously: How loneliness can impact the immune system, The scientific importance of social connections for your health and Elderly adults turn to social media to stay connected, stave off loneliness

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