Chapter 5. Hormones and the Brain
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Heidi Ledford Teaching parents of children with autism how to interact more effectively with their offspring brings the children benefits that linger for years, according to the largest and longest-running study of autism interventions. The training targeted parents with 2–4-year-old children with autism. Six years after the adults completed the year-long course, their children showed better social communication and reduced repetitive behaviours, and fewer were considered to have “severe” autism as compared to a control group, according to results published on 25 October in The Lancet1. “This is not a cure,” says child psychiatrist Jonathan Green of the University of Manchester, and an investigator on the study. “But it does have a sustained and substantial reduction in severity and that’s important in families.” John Constantino, a child psychiatrist at Washington University in St. Louis, Missouri, says that the results are “monumentally important”, because there has been little evidence showing that interventions for autism at an early stage are effective — even though researchers already broadly endorse the idea. "It is a rare long-term randomized controlled trial in a field in which there exists almost no data of this kind," he says. But he adds that the magnitude of the improvement was a disappointment, and that there were signs that the effects of treatment were diminishing over time. And although the therapy benefited communication skills and decreased repetitive behaviours, it did not lessen childrens' anxiety — another key symptom of autism. “Perhaps most of all, this underscores how desperately important it is that we develop higher-impact interventions,” he says. © 2016 Macmillan Publishers Limited,
Mia Persson Dogs may look to humans for help in solving impossible tasks thanks to some genes previously linked to social disorders in people. Beagles with particular variants in a gene associated with autism were more likely to sidle up to and make physical contact with a human stranger, researchers report September 29 in Scientific Reports. That gene, SEZ6L, is one of five genes in a particular stretch of beagle DNA associated with sociability in the dogs, animal behaviorist Per Jensen and colleagues at Linköping University in Sweden say. Versions of four of those five genes have been linked to human social disorders such as autism, schizophrenia and aggression. “What we figure has been going on here is that there are genetic variants that tend to make dogs more sociable and these variants have been selected during domestication,” Jensen says. But other researchers say the results are preliminary and need to be confirmed by looking at other dog breeds. Previous genetic studies of dog domestication have not implicated these genes. But, says evolutionary geneticist Bridgett vonHoldt of Princeton University, genes that influence sociability are “not an unlikely target for domestication — as humans, we would be most interested in a protodog that was interested in spending time with humans.” |© Society for Science & the Public 2000 - 2016.
By Mallory Locklear Men and women show different patterns of drug abuse, with women becoming addicted to some substances much more quickly. Now a study in rats has found that sex hormones can reduce opioid abuse. From studies of other drugs, such as cocaine and alcohol, we know that women are less likely to use these substances than men, but become addicted faster when they do. “There are a lot of data to indicate that women transition from that initial use to having a substance-use disorder much more rapidly,” says Mark Smith, a psychologist at Davidson College, North Carolina. Once addicted, women also seem to have stronger drug cravings. Tracking drug use throughout women’s menstrual cycles suggests that both these differences could be shaped by hormones – with more intense cravings and greater euphoria at particular times in the cycle, says Smith. Craving crash Now Smith’s team has investigated the effects of hormones on opioid addiction in rats. Their findings suggest that hormones such as oestrogen and progesterone may help women to kick the habit. The researchers allowed female rats to self-administer heroin, and measured how much they chose to take at different times in their oestrous cycle – a regular sequence of hormone fluctuations similar to those seen in the menstrual cycle in women. © Copyright Reed Business Information Ltd.
By LISA SANDERS, M.D. On Thursday, we challenged Well readers to take on the complicated case of a 50-year-old woman who felt feverish and couldn’t stop vomiting and who ended up losing a lot of weight. Like the doctors who saw her as she searched for a diagnosis, many of you focused on her recent journey to Kenya as the source of her symptoms. It was a completely reasonable approach, and one that was extensively explored by the doctors who cared for her. But ultimately it was incorrect. This was a really tough case. Indeed, only three of you got it right. The correct diagnosis was: Hyperthyroidism Thyroid hormone controls metabolism. The more of this hormone flowing in the body, the harder the body works. Because this hormone plays such an important role in how we function, the body tightly regulates how much of it is released and when. But just like every other system in the body, that regulatory mechanism can mess up, releasing either too little hormone (hypothyroidism) or, as in this case, too much. The usual symptoms of hyperthyroidism are pretty apparent: The heart races; patients are sweaty, shaky, itchy and sometimes feverish. The appetite increases, but because the entire body is revved up, there is often weight loss. Bowel movements become more frequent and sleep harder to come by. Frequent and uncontrolled vomiting is less common but has been reported. This patient had all of these symptoms. The most common cause of hyperthyroidism is an autoimmune disorder known as Graves’ disease, named after Dr. Robert Graves, a 19th-century Irish physician who wrote about the phenomenon of rapid and violent palpitations associated with an enlarged thyroid gland. In the 20th century it was discovered that the symptoms result when antibodies, the foot soldiers of the immune system, cause excess stimulation of the thyroid gland, resulting in the uncontrolled production and release of thyroid hormone. © 2016 The New York Times Company
Keyword: Hormones & Behavior
Link ID: 22624 - Posted: 09.03.2016
By Christie Aschwanden The Olympic stadium was quiet on Wednesday morning, and spectators in the sparsely filled stands seemed to pay little notice to South African runner Caster Semenya as she cruised to an easy win in her first-round heat of the 800 meters. But on Saturday evening, when Semenya will contest the 800-meter final, she’ll have the world’s eyes on her. “There is no more certain gold medal in the Rio Olympics than Semenya,” wrote Ross Tucker, an exercise scientist in South Africa, on his blog, The Science of Sport. “She could trip and fall, anywhere in the first lap, lose 20m, and still win the race.” If she does indeed dominate, some sports fans will be cheering Semenya, while others will be less inclined to celebrate, believing that she has an unfair advantage over her rivals. Semenya made headlines in 2009 amid rumors that track’s governing body, the International Association of Athletics Federations, had required her to undergo tests to confirm that she was female. Media accounts have reported that she has hyperandrogenism, a condition that causes higher-than-average testosterone levels — an allegation that neither Semenya nor the IAAF has publicly confirmed. Semenya’s case is the latest saga in sport’s checkered history of sex testing, a task that is purportedly aimed at creating an even playing field but — as I’ve discussed previously — raises serious questions about how athletics organizations treat women. Her muscular build, deep voice and remarkable results had raised suspicions among some of Semenya’s rivals about whether she was really a woman. “Just look at her,” said Mariya Savinova, a Russian runner now tangled in her country’s doping scandal.
By Robert Lavine Just the briefest eye contact can heighten empathetic feelings, giving people a sense of being drawn together. But patients who suffer from autism, even in its most high-functioning forms, often have trouble establishing this sort of a social connection with other people. Researchers are delving into what’s going on behind the eyes when these magical moments occur, and the hormones and neural substrates involved may offer hope of helping people with autism. University of Cambridge neuroscientist Bonnie Auyeung and colleagues gave oxytocin—a compound commonly referred to as the “love hormone,” as it’s been found to play roles in maternal and romantic bonding—to both normal men and those with a high-functioning form of autism also called Asperger’s syndrome. The scientists then tracked the eye movements of the study subjects and found that, compared with controls, those who received oxytocin via nasal spray showed increases in the number of fixations—pauses of about 300 milliseconds—on the eye region of an interviewer’s face and in the fraction of time spent looking at this region during a brief interview (Translational Psychiatry, doi:10.1038/tp.2014.146, 2015). Oxytocin, a neuropeptide hormone secreted by the pituitary gland, has long been known to activate receptors in the uterus and mammary glands, facilitating labor and milk letdown. But research on the neural effects of oxytocin has been accelerated by the availability of a nasal spray formulation of the hormone, which can deliver it more directly to the brain, also rich with oxytocin receptors. Auyeung adds that her study used a unique experimental setup. “Other studies have shown that [oxytocin] increases looking at the eye region when presented with a picture of a face,” Auyeung says. “The new part is that we are using a live interaction.”
By Megan Scudellari In late 2013, psychologist Raphael Bernier welcomed a 12-year-old girl and her parents into his office at the University of Washington (UW) in Seattle. The girl had been diagnosed with autism spectrum disorder, and Bernier had invited the family in to discuss the results of a genetic analysis his collaborator, geneticist Evan Eichler, had performed in search of the cause. As they chatted, Bernier noticed the girl’s wide-set eyes, which had a slight downward slant. Her head was unusually large, featuring a prominent forehead. The mother described how her daughter had gastrointestinal issues and sometimes wouldn’t sleep for two to three days at a time. The girl’s presentation was interesting, Bernier recalls, but he didn’t think too much of it—until a week later, when he met an eight-year-old boy with similarly wide-set eyes and a large head. Bernier did a double take. The “kiddos,” as he calls children who come to see him, could have been siblings. According to the boy’s parents, he also suffered from gastrointestinal and sleep problems. The similarities between the unrelated children were remarkable, especially for a disorder so notoriously complex that it has been said, “If you’ve met one child with autism, you’ve met one child with autism.” But Bernier knew that the patients shared another similarity that might explain the apparent coincidence: both harbored a mutation in a gene known as chromodomain helicase DNA binding protein 8 (CHD8). © 1986-2016 The Scientist
Carl Zimmer An eye is for seeing, a nose is for smelling. Many aspects of the human body have obvious purposes. But some defy easy explanation. For biologists, few phenomena are as mysterious as the female orgasm. While orgasms have an important role in a woman’s intimate relationships, the evolutionary roots of the experience — a combination of muscle contractions, hormone release, and intense pleasure — have been difficult to uncover. For decades, researchers have put forward theories, but none are widely accepted. Now two evolutionary biologists have joined the fray, offering a new way of thinking about the female orgasm based on a reconstruction of its ancient history. On Monday, in The Journal of Experimental Zoology, the authors conclude that the response originated in mammals more than 150 million years ago as a way to release eggs to be fertilized after sex. Until now, few scientists have investigated the biology of distantly related animals for clues to the mystery. “For orgasms, we kept it reserved for humans and primates,” said Mihaela Pavlicev, an evolutionary biologist at University of Cincinnati College of Medicine and an author of the new paper. “We didn’t look to other species to dig deeper and look for the origin.” The male orgasm has never caused much of a stir among evolutionary biologists. The pleasure is precisely linked to ejaculation, the most important step in passing on a male’s genes to the next generation. That pleasure encourages men to deliver more sperm, which is evolutionarily advantageous. For women, the evolutionary path is harder to figure out. The muscle contractions that occur during an orgasm are not essential for a woman to become pregnant. And while most men can experience an orgasm during sex, it’s less reliable for women. © 2016 The New York Times Company
Nicola Davis Female orgasm has perplexed scientists, fuelled an equality movement and propelled Meg Ryan to fame. Now researchers say they might have found its evolutionary roots. The purpose of the euphoric sensation has long puzzled scientists as it is not necessary for conception, and is often not experienced by women during sex itself. But scientists in the US have come up with an answer. Human female orgasm, they say, might be a spin-off from our evolutionary past, when the hormonal surges that accompany it were crucial for reproduction. “It is important to stress that it didn’t look like the human female orgasm looks like now,” said Mihaela Pavličev, co-author of the study from Cincinnati children’s hospital. “We think that [the hormonal surge] is the core that was maybe modified further in humans.” Writing in the journal JEZ-Molecular and Developmental Evolution, Pavličev and co-author Günter Wagner from Yale University describe how they delved into the anatomy and behaviour of a host of placental mammals to uncover the evolutionary origin of female orgasm, based on the hormonal surges associated with it. In mammals such as cats and rabbits, these surges occur during sex and play a crucial role in signalling for eggs to be released from the female’s ovaries. By contrast in a variety of other mammals, including humans and other primates, females ovulate spontaneously. © 2016 Guardian News and Media Limited
By Ann Grisold, Oscar, 6, sits at the family dinner table and endures the loneliest hour of his day. The room bustles with activity: Oscar’s sister passes plates and doles out broccoli florets. His father and uncle exchange playful banter. Oscar’s mother emerges from the kitchen carrying a platter of carved meat; a cousin pulls up an empty chair. “Chi fan le!” shouts Oscar’s older sister, in Mandarin Chinese. Time for dinner! “Hao,” her grandfather responds from the other room. Okay. Family members tell stories and rehash the day, all in animated Chinese. But when they turn to Oscar, who has autism, they speak in English. “Eat rice,” Oscar’s father says. “Sit nice.” Except there is no rice on the table. In Chinese, ‘eat rice’ can refer to any meal, but its meaning is lost in translation. Pediatricians, educators and speech therapists have long advised multilingual families to speak one language — the predominant one where they live — to children with autism or other developmental delays. The reasoning is simple: These children often struggle to learn language, so they’re better off focusing on a single one. However, there are no data to support this notion. In fact, a handful of studies show that children with autism can learn two languages as well as they learn one, and might even thrive in multilingual environments. Lost in translation: It’s not just children with autism who miss out when parents speak only English at home — their families, too, may experience frustrating miscommunications. Important instructions, offhand remarks and words of affection are often lost in translation when families swap their heritage language for English, says Betty Yu, associate professor of special education and communicative disorders at San Francisco State University. © 2016 Scientific American,
By Knvul Sheikh Although millions of women use hormone therapy, those who try it in hopes of maintaining sharp memory and preventing the fuzzy thinking sometimes associated with menopause may be disappointed. A new study indicates that taking estrogen does not significantly affect verbal memory and other mental skills. “There is no change in cognitive abilities associated with estrogen therapy for postmenopausal women, regardless of their age,” says Victor Henderson, a neurologist at Stanford University and the study’s lead author. Evidence of positive and negative effects of such hormone therapy has ping-ponged over the years, with some observational studies in postmenopausal women and research in animal models, suggesting it improves cognitive function and memory. But other previous research, including a long-term National Institutes of Health Women’s Health Initiative memory study published in 2004, has suggested that taking estrogen increases the risk of cognitive impairment and dementia in women over 65 years old. Henderson says one explanation for these contradictory findings may be that after menopause begins there is a “critical period” in which hormone therapy could still benefit relatively young women—if they start early enough. So in their study, which appears in the July 20 online Neurology, Henderson and his team recruited 567 healthy women, between ages 41 and 84, to examine how estrogen affected one group whose members were within six years of their last menstrual period and another whose members had started menopause at least 10 years earlier. © 2016 Scientific American
By William Kenower My youngest son, Sawyer, used to spend far more time relating to his imagination than he did to the world around him. He would run back and forth humming, flapping his hands and thumping on his chest. By the time he was in first grade, attempts to draw him out of his pretend world to join his classmates or do some class work led to explosions and timeouts. At 7 he was given a diagnosis of being on the autism spectrum. That was when my wife, Jen, learned about the practice called joining. The idea behind it, which she discovered in Barry Neil Kaufman’s book “Son-Rise,” is brilliant in its simplicity. We wanted Sawyer to be with us. We did not want him to live in this bubble of his own creation. And so, instead of telling him to stop pretending and join us, we started pretending and joined him. The first time Jen joined him, the first time she ran beside him humming and thumping her chest, he stopped running, stopped thumping, stopped humming and, without a single word from us, turned to her and said, “What are you doing?” We took turns joining him every day, and a week later we got an email from his special education teacher telling us to keep doing whatever we were doing. He’d gone from five timeouts a day to one in a week. The classroom was the same, the work was the same – all that was different was that we had found a way to say to him in a language he could understand, “You’re not wrong.” Emboldened by our success, we set about becoming more fluent in this language. For the next couple of years we taught ourselves to join him constantly. This meant that whatever we were doing had to stop whenever we heard him running back and forth and humming. But we could not join him simply to get him to stop running and thumping and humming. We had to join him without any judgment or impatience. That was the trickiest part. The desire to fix him was great. I had come to believe that there were broken people in need of fixing. Sometimes, I looked like one of those people. I was a 40-year-old unpublished writer working as a waiter. My life reeked of failure. Many days I looked in the mirror and asked, “What is wrong with me?” © 2016 The New York Times Company
Link ID: 22451 - Posted: 07.16.2016
By Rebecca Brewer, Jennifer Murphy, There is a persistent stereotype that people with autism are individuals who lack empathy and cannot understand emotion. It’s true that many people with autism don’t show emotion in ways that people without the condition would recognize. But the notion that people with autism generally lack empathy and cannot recognize feelings is wrong. Holding such a view can distort our perception of these individuals and possibly delay effective treatments. We became skeptical of this notion several years ago. In the course of our studies of social and emotional skills, some of our research volunteers with autism and their families mentioned to us that people with autism do display empathy. Many of these individuals said they experience typical, or even excessive, empathy at times. One of our volunteers, for example, described in detail his intense empathic reaction to his sister’s distress at a family funeral. Yet some of our volunteers with autism agreed that emotions and empathy are difficult for them. We were not willing to brush off this discrepancy with the ever-ready explanation that people with autism differ from one another. We wanted to explain the difference, rather than just recognize it. So we looked into the overlap between autism and alexithymia, a condition defined by a difficulty understanding and identifying one’s own emotions. People with high levels of alexithymia (which we assess with questionnaires) might suspect they are experiencing an emotion, but are unsure which emotion it is. They could be sad, angry, anxious or maybe just overheated. About 10 percent of the population at large — and about 50 percent of people with autism — has alexithymia. © 2016 Scientific American
By Tara Parker-Pope Hoping to alert parents to “red flags” that might signal autism, two advocacy groups yesterday launched a Web site, the ASD Video Glossary, that provides online glimpses of kids with autism to worried parents. But some experts fear the site, though well intentioned, also may cause anxiety among parents whose children are perfectly fine. The site contains videos that show subtle differences in how kids with autism speak, react, play and express themselves. The organizations behind it, Autism Speaks and First Signs, hope that parents who see resemblances in their own kids will be emboldened to seek early diagnosis and treatment, which many experts believe can improve outcomes for kids with autism. Visitors to the new site must register in order to watch the videos, and in the first two hours of its release, more than 10,000 people did so. Yet some researchers fear the video glossary is certain to be troubling for the parents of children without autism, too, because the behavior of kids without the condition can resemble that depicted in the videos. “Just as there’s a spectrum in autism…there’s a spectrum in normal development,” Dr. Michael Wasserman, a pediatrician at Ochsner Medical Center in New Orleans told the Associated Press. “Children don’t necessarily develop in a straight line.” But Amy Wetherby, a professor of communications disorders at Florida State University who helped create the site, said the videos would embolden parents to persist when doctors don’t listen to legitimate concerns about a child’s behavior. As she told the Associated Press, sometimes “parents are the first to be concerned, and the doctors aren’t necessarily worried,” she said. “This will help give them terms to take to the doctor and say, ‘I’m worried about it.”’ © 2016 The New York Times Company
Link ID: 22432 - Posted: 07.13.2016
By David Dobbs It’s difficult to tell what Gina Pace wants unless you already know what she wants. But sometimes that’s easy, and this is one of those times: Gina wants pizza. “I-buh!” she says repeatedly—her version of “I want.” We all do. We are sitting at Abate’s in New Haven, Connecticut, a town famous for—among other things—pizza and science. Gina and her father, Bernardo, who live on Staten Island in New York City, have made the two-hour drive here for both. The pizza is in the oven. The science is already at the table, represented by Abha Gupta, a developmental pediatrician at Yale’s renowned Child Study Center. Gupta is one of the few scientific experts on a condition that Bernardo and Gina know through hard experience. Gina, now 24, was diagnosed 20 years ago with childhood disintegrative disorder, or CDD. CDD is the strangest and most unsettling developmental condition you have probably never heard of. Also known as Heller’s syndrome, for the Austrian special educator who first described it in 1908, it is a late-blooming, viciously regressive form of autism. It’s rare, striking about 1 or 2 in every 100,000 children. After developing typically for two to 10 years (the average is three or four), a child with CDD will suffer deep, sharp reversals along multiple lines of development, which may include language, social skills, play skills, motor skills, cognition, and bladder or bowel control. The speed and character of this reversal varies, but it often occurs in a horrifyingly short period—as short as a couple of months, says Gupta. In about 75 percent of cases, this loss of skills is preceded by days or weeks in which the child experiences intense anxiety and even terror: nightmares and waking nightmares and bouts of confused, jumpy disturbance that resemble psychosis.
By David Shultz Making eye contact for an appropriate length of time is a delicate social balancing act: too short, and we look shifty and untrustworthy; too long, and we seem awkward and overly intimate. To make this Goldilocks-like dilemma even trickier, it turns out that different people prefer to lock eyes for different amounts of time. So what’s too long or too short for one person might be just right for another. In a new study, published today in Royal Society Open Science, researchers asked a group of 498 volunteers to watch a video of an actor staring out from a screen and press a button if their gazes met for an uncomfortably long or short amount of time (above). During the test, the movement of their eyes and the size of their pupils were recorded with eye-tracking technology. On average, participants had a “preferred gaze duration” of 3.3 seconds, give or take 0.7 seconds. That’s a pretty narrow band for someone on their first date! Making things even harder, individual preferences can also be measured: Researchers found that how quickly people’s pupils dilated—an automatic reflex whenever someone looks into the eyes of another—was a good indicator of how long they wanted to gaze. The longer their preferred gaze, the faster their pupils expanded. The differences are so subtle, though, that they can only be seen with the eye-tracking software—making any attempts to game the system is likely to end up awkward rather than informative. © 2016 American Association for the Advancement of Science.
By Elizabeth Pennisi Cave fish have long fascinated biologists because of their missing eyes and pale skin. Now, one researcher is studying them for another reason: Their behavior may provide clues to the genetic basis of some human psychiatric disorders. Last week at the 23rd International Conference on Subterranean Biology in Fayetteville, Arkansas, he demonstrated how drugs that help people with schizophrenia and autism similarly affect the fish. “I think there is a lot of potential” for these fish to teach us about mental disorders, says David Culver, an evolutionary biologist at American University in Washington, D.C., who was not involved in the study. Culver adds that—like other work on the cause of cave fish blindness—the new research may also have implications for human disease. A decade ago, the lead author on the new study, Masato Yoshizawa, wanted to understand brain evolution by investigating the effects of natural selection on behavior. The Mexican tetra (Astyanax mexicanus), a cave fish with very close surface relatives, seemed an excellent prospect for that work. Because the two populations can interbreed, it’s easier to pin down genes that might be related to the neural defects underlying behavioral differences. Such breeding studies are not possible in humans. The blind cave fish differ from their surface relatives in several notable ways. They don’t have a social structure and they don’t school. Instead, they lead solitary lives—a behavior that makes sense given their lack of natural predators. They also almost never sleep. They are hyperactive, and—unlike other fish—they are attracted to certain vibrations in the water. Finally, they tend to do the same behavior over and over again and seem to have higher anxiety than their surface relatives. © 2016 American Association for the Advancement of Science.
By Ruth Williams The offspring of certain mice fed a high-fat diet have altered gut microbiomes and may be prone to autism-like behaviors including social deficits, according to a study published today (June 16) in Cell. But treating these offspring with a specific microbial species they lack can rectify the animals’ social behavior. “There’s growing evidence that the microbiome, particularly early in life, can have long-term effects on brain development and behavior,” said anatomist and neuroscientist John Cryan of University College Cork in Ireland who was not involved in the study. “What this paper does is take advantage of the fact that we get our microbiome from our mums, and looks at what happens if the mum disturbs her microbiome during pregnancy.” According to the US Centers for Disease Control and Prevention, one in 68 U.S. children have autism spectrum disorder (ASD). Recent evidence suggests that the risk of ASD is increased for the offspring of mothers with obesity. In both humans and non-human primates, the offspring of obese mothers have also been shown to have abnormal microbiomes. And some people with ASD have imbalanced gut microbes, or dysbiosis. Baylor College of Medicine’s Mauro Costa-Mattioli and colleagues sought to better understand how maternal obesity, the microbiome, and ASD are interconnected. The team turned to mice for answers. The researchers gave female animals high-fat diets before setting up matings, later finding that a “large proportion” of the offspring exhibited ASD-like behaviors, including reduced social interaction, repetitive behaviors, and anxiety. The team analyzed the microbiomes of these offspring, finding that they differed from those of control animals. © 1986-2016 The Scientist
Link ID: 22336 - Posted: 06.18.2016
By Teal Burrell Sociability may be skin deep. The social impairments and high anxiety seen in people with autism or related disorders may be partly due to a disruption in the nerves of the skin that sense touch, a new study in mice suggests. Autism spectrum disorders are primarily thought of as disorders of the brain, generally characterized by repetitive behaviors and deficits in communication skills and social interaction. But a majority of people with autism spectrum disorders also have an altered tactile sense; they are often hypersensitive to light touch and can be overwhelmed by certain textures. “They tend to be very wary of social touch [like a hug or handshake], or if they go outside and feel a gust of wind, it can be very unnerving,” says neuroscientist Lauren Orefice from Harvard Medical School in Boston. An appreciation for this sensory aspect of autism has grown in recent years. The newest version of psychiatry’s bible, the Diagnostic and Statistical Manual of Mental Disorders, includes the sensory abnormalities of autism as core features of the disease. “That was a big nod and a recognition that this is a really important aspect of autism,” says Kevin Pelphrey, a cognitive neuroscientist at The George Washington University in Washington, D.C., who was not involved in the work. The sensation of touch starts in the peripheral nervous system—in receptors at the surface of the skin—and travels along nerves that connect into the central nervous system. Whereas many autism researchers focus on the end of the pathway—the brain—Orefice and colleagues wondered about the first leg of the trip. So the group introduced mutations that silenced genes associated with autism spectrum disorders in mice, adding them in a way that restricted the effects to peripheral nerve cells, they report today in Cell. The team singled out the gene Mecp2, which encodes a protein that regulates the expression of genes that help forge connections between nerve cells. © 2016 American Association for the Advancement of Science
By Sarah DeWeerdt, Spectrum Brains from people with autism show patterns of gene expression similar to those from people with schizophrenia, according to a new analysis. The findings, published May 24 in Translational Psychiatry, deepen the connections between the two conditions, says study leader Dan Arking, associate professor of genetic medicine at Johns Hopkins University in Baltimore, Maryland. People who have either autism or schizophrenia share features such as language problems and difficulty understanding other people’s thoughts and feelings. They also have genetic risk factors in common. “And now I think we can show that they share overlap in gene expression,” Arking says. The study builds on previous work, in which Arking’s team characterized gene expression in postmortem brain tissue from 32 individuals with autism and 40 controls. In the new analysis, the researchers made use of that dataset as well as one from the Stanley Medical Research Institute that looked at 31 people with schizophrenia, 25 with bipolar disorder and 26 controls3. They found 106 genes expressed at lower levels in autism and schizophrenia brains than in controls. These genes are involved in the development of neurons, especially the formation of the long projections that carry nerve signals and the development of the junctions, or synapses, between one cell and the next. The results are consistent with those from previous studies indicating a role for genes involved in brain development in both conditions. “On the one hand, it’s exciting because it tells us that there’s a lot of overlap,” says Jeremy Willsey, assistant professor of psychiatry at the University of California, San Francisco, who was not involved in the work. “On the other hand, these are fairly general things that are overlapping.” © 2016 Scientific American