Medical Blogs

April 15, 2007

Childhood Cognition Research Underway At Rutgers-Camden

A new research laboratory at Rutgers University-Camden seeks to determine how children develop cognitive skills, how cultural heritage can shape psychological perspectives, and the role memory plays in making judgments.

Rutgers-Camden professors and students working in the Culture, Cognition, and Development Laboratory are pursuing behavioral research that will offer a deeper understanding of how children and adults alike perceive the world around them.

"How our minds develop as an interconnected part of our cultural worlds, from childhood throughout our adult lives, is infinitely complex, but the details of that complexity are so important to our understanding of how we grow and think," says Sean Duffy, an assistant professor of psychology and director of the Rutgers-Camden research lab.

Undergraduate and graduate Rutgers students also work in the lab, which provides a unique learning opportunity through their work with volunteers in passive, non-invasive studies.

"Working on the Infant Development Study has been a fascinating experience. It is amazing to think that we can actually design experiments that measure how babies perceive objects and actions," says Liz Kassabian, a student in the graduate psychology program at Rutgers-Camden. "While we may only be shedding light upon a small part of the process of human development, each piece, when put together, forms a mosaic of the mind's journey from birth to maturity."

Undergraduate student Jennifer Habina shares that enthusiasm for this unique research and learning opportunity. "We as students get to experience what it is like to actually run experiments, help gather the data, and have fun with each other. Being involved in that type of atmosphere really gave me the experience of what psychological research is all about," says Habina, a Cherry Hill resident.

Duffy's own research examines the development of the ability to make accurate decisions when one only has inexact information. In a recent article in the scholarly journal Developmental Science, Duffy provides evidence that children as young as five years of age rely upon statistical principles in order to increase the accuracy of their memories.

"When making judgments about an object for which one has only a fuzzy memory, people often rely on what we call 'categorical' information to help inform judgments," says Duffy.

"For example, in remembering the height of a person you met last year, you combine inexact information about how tall the person actually was with information from the category of which that person is a member. If it was a male, you would use the fact that the average height for males is 5'9" to help you choose a value along the continuum of fuzziness in your memory.

"The statistical computations behind this are extremely complicated, and yet children as young as five show evidence that they use categories in the same way as adults, suggesting that this ability occurs at the start of life."

While Duffy's work reveals a process by which children increase the accuracy in their judgments, these processes may also be related to social stereotyping and prejudice. "This research may shed light upon the question of why stereotypes are so pervasive: the same mental processes that explain how children improve accuracy in most situations cause serious errors when the category itself doesn't represent reality, which is the case with most negative stereotypes about classes of people. We are currently investigating how we might make children and adults more aware of these mental processes in order to reduce racism and prejudice in children's thinking."

Duffy seeks to continue research with younger children and infants. According to the Rutgers-Camden scholar, the role of the infant in his studies is straightforward: the infant, seated on the lap of the parent or caregiver, looks at a doll on a small stage. The infant then is shown a doll of a different size. "We measure the amount of time that the baby looks at the different objects," explains Duffy. "That's how we determine whether infants can perceive and think about differences in size."

Duffy encourages parents interested in the study to contact him. A modest reimbursement for travel to the Rutgers campus is offered. Duffy further notes the wealth of opportunities for families visiting the Rutgers-Camden campus. "It's a relatively short test, which allows plenty of time for families to visit our fellow Camden Waterfront neighbors: the Adventure Aquarium, the Camden Children's Garden, the Battleship New Jersey, and the other family attractions that draw more than three million visitors to our waterfront each year."

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More information about the Infant Study at the Culture, Cognition, and Development Laboratory at Rutgers-Camden is online at http://infantstudy.camden.rutgers.edu/.

Duffy is an associate with the Rutgers-Camden Center for Children and Childhood Studies, which seeks to develop innovative research and service programs that advance a greater understanding of the needs of children in New Jersey and around the world. A resident of Philadelphia, he attended the University of Chicago, where he received his bachelor's, master's, and doctoral degrees.

Contact: Mike Sepanic
Rutgers, the State University of New Jersey

An Excuse For Not Responding To A Nagging Spouse

New research findings now appearing online in the Journal of Experimental Social Psychology began with a professor's desire to understand why her husband often seemed to ignore her requests for help around the house.

"My husband, while very charming in many ways, has an annoying tendency of doing exactly the opposite of what I would like him to do in many situations," said Tanya L. Chartrand, an associate professor of marketing and psychology at Duke University's Fuqua School of Business.

When Chartrand envisioned a formal academic study of people's resistance to the wishes of their partners, parents or bosses, her husband, Gavan Fitzsimons, became not only her inspiration, but also her collaborator. Fitzsimons is a professor of marketing and psychology at Duke who, like Chartrand, is an expert in the field of consumer psychology.

Working with Duke Ph.D. student Amy Dalton, Chartrand and Fitzsimons have demonstrated that some people will act in ways that are not to their own benefit simply because they wish to avoid doing what other people want them to. Psychologists call this reactance: a person's tendency to resist social influences that they perceive as threats to their autonomy.

The team found that people do not necessarily oppose others' wishes intentionally. Instead, even the slightest nonconscious exposure to the name of a significant person in their life is enough to bring about reactance and cause them to rebel against that person's wishes.

"Psychologists have known for some time that reactance can cause a person to work in opposition to another person's desires," Chartrand said. "We wanted to know whether reactance could occur even when exposure to a significant other, and their associated wishes for us, takes place at a nonconscious level."

The researchers undertook a set of experiments to determine whether reactance might occur unintentionally, completely outside of the reactant individual's conscious awareness.

In the first experiment, participants were asked to name a significant person in their lives whom they perceived to be controlling and who wanted them to work hard, and another significant and controlling person who wanted them to have fun. Participants then performed a computer-based activity during which the name of one or the other of these people was repeatedly, but subliminally, flashed on the screen. The name appeared too quickly for the participants to consciously realize they had seen it, but just long enough for the significant other to be activated in their nonconscious minds. The participants were then given a series of anagrams to solve, creating words from jumbled letters.

People who were exposed to the name of a person who wanted them to work hard performed significantly worse on the anagram task than did participants who were exposed to the name of a person who wanted them to have fun.

"Our participants were not even aware that they had been exposed to someone else's name, yet that nonconscious exposure was enough to cause them to act in defiance of what their significant other would want them to do," Fitzsimons said.

A second experiment used a similar approach and added an assessment of each participant's level of reactance. People who were more reactant responded more strongly to the subliminal cues and showed greater variation in their performance than people who were less reactant.

"The main finding of this research is that people with a tendency toward reactance may nonconsciously and quite unintentionally act in a counterproductive manner simply because they are trying to resist someone else's encroachment on their freedom," Chartrand said.

The researchers suggest that people who tend to experience reactance when their freedoms are threatened should try to be aware of situations and people who draw out their reactant tendencies. That way, they can be more mindful of their behaviors and avoid situations where they might adopt detrimental behaviors out of a sense of rebellion.

Not surprisingly perhaps, Chartrand and Fitzsimons, as wife and husband, also take home some slightly differing messages from their experiments.

Chartrand believes her husband "should now be better equipped to suppress his reactant tendencies." Fitzsimons, however, believes the results "suggest that reactance to significant others is so automatic that I can't possibly be expected to control it if I don't even know it's happening."

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Contact: Laura Brinn
Duke University

Men Who Haven't Been Victims Less Likely To Believe Child Sex Abuse Claims

Some guys just don't get it. In this case, that commonly used setup line doesn't result in a joke. A University of Oregon study has found that young men who have never been traumatized are the least likely population to believe a person's recounting of child sexual abuse.

The study - published in the March issue of the journal Psychology of Women Quarterly - also finds that males with high sexism beliefs also tend to believe that such incidents, if they happened at all, were not harmful to the victim.

Some 80,000 cases of child sexual abuse are reported annually in the United States, according to federal statistics. Jennifer Freyd, a UO professor of psychology and co-author of the new study, reported in the journal Science in 2005 that abuse involving sexual contact between adults and children has been experienced by at least 20 percent of women and as many as 10 percent of men worldwide, and that 86 percent of sexual abuse cases are never reported to authorities.

Freyd has since been studying the factors that may explain why some people don't believe that such abuses occur, a phenomenon that discourages victims from speaking out and allows perpetrators to escape unpunished and possibly repeat such crimes.

"Until we change societal attitudes, abuse victims are less likely to speak up," said lead author Lisa DeMarni Cromer, a former UO doctoral student who has since graduated. "That means that abuse can keep occurring to them, and that they won't get the societal support they need. It's positive social support and being believed that is most likely leading to positive mental health outcomes."

In the new study, 318 university students were divided into groups based on self-reporting of abuse history and sexist attitudes. They heard short vignettes in which a male or female described an incident that occurred at age 9 involving an adult figure. The victim in each case also reported whether the memory has always been available to recall since the incident or was recently recalled.

Females, including those who had and had not suffered from some kind of betrayal of adult trust, and males who had experienced such betrayal all were willing to believe such an allegation, even more so in the cases where memory had always been present. There was a dramatic decline in believability for men with no abuse history. "I was surprised that this was such a big effect, and that there was such a difference between males and females," Freyd said.

"In psychology, we often hear about main effects - men vs. women, trauma history vs. no trauma history - but here what we have is an interaction, where trauma history really mattered with the men, and their ability to believe a story depended on their personal experience," she said.

The findings, she added, suggest that educational efforts may need to be more heavily focused toward men to help them understand that such acts do occur and that the abuse often can contribue to a number of societal ills. Among the problems, she noted, are mental and physical health problems, substance abuse, victimization and criminality in adulthood.

"There is a very high prevalence of child sexual abuse both in our country and around the world," she said. "It clearly has negative impacts on people. It doesn't mean that everybody who is sexually abused has a bad outcome, but, like smoking, it increases the risks for bad outcomes."

The biggest obstacle to addressing the issue, Freyd said, is an unwillingness to talk about it, "and this is very much related to people's unwillingness to believe that it occurs and is so problematic."

Another obstacle to men's ability to believe such allegations is that previous research by Freyd and her colleagues has shown that men are rarely betrayed by adults close to them, and that when they are abused it is more likely to not be sexual in nature. Women most often are betrayed by adults close to them, and sexual abuse is more readily seen as a threat to them, Freyd said.

There are two forms of disbelief, she said. One is that such things never happen - similar to denying the Holocaust occurred. A second is that no one is harmed - that kids are sexual beings who sometimes experiment with grownups, which feeds into widely held mythology, Freyd said.

"There may be legitimate debates on the prevalence of child sexual abuse and how it is measured," she said, "but this study involved 9-year-old victims, and it's hard for me to believe that any sexual contact between an adult and a 9-year-old is not abuse and can't cause harm."

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Cromer has since received her doctorate from the University of Oregon and now works in the psychiatry department at the State University of New York Upstate Medical University.

Both the Trauma and Oppression Research Fund at the UO Foundation and the UO Center for the Study of Women in Society supported the just-published research, which is part of an on-going project.

Sources: Jennifer J. Freyd, professor of psychology; Lisa D. Cromer.

Links:http://dynamic.uoregon.edu/

Contact: Jim Barlow
University of Oregon

Norwegian Gambling Habits

In 2005, every Norwegian over the age of 15 gambled almost NOK 11,500 on registered Norwegian games of chance. Now, SINTEF Health Research is to survey how many Norwegians are addicted to gambling. For the first time in this country, the researchers will also be asking gamblers' families and friends what they think.

The study will also be the first to demonstrate whether there is a relationship in the Norwegian population between being dependent on Internet computer games and problems with playing for money.

These days, 10,000 Norwegian citizens are finding a questionnaire by SINTEF Health Research in their post-boxes. The form has been sent to a random sample of the population aged between16 and 74.

The main focus of the survey is cash gambling, ranging from scratchcards and Lotto to one-armed bandits and Internet poker.

"For the survey to offer a true picture of Norwegian gambling habits, it is important that as many as possible should complete the questionnaire, no matter whether they play often, seldom or never at all, says project manager Anita Г˜ren of SINTEF Health Research.

Is the problem on the increase?

The Norwegian Gaming Board is financing the population study of gambling addiction, which is a follow-up of a similar study that was carried out in 2002. An important aim of the study is to find out whether people's gambling problems have increased in scope since then.

In 2002, the study came to the conclusion that 49,000 persons aged between 15 and 74 either had, or had previously had, a serious gambling problem.

"Since then, the gross turnover of the Norwegian gambling market has risen by 25 percent. There is also Internet gambling, which is not subject to controls. The authorities wish to see how this affects gambling addiction at population level", says Norwegian Gaming Board director Atle Hamar.

When the previous study was performed in 2002, the gross turnover of Norway's regulated gaming industry was more than NOK 20 billion. The Board does not have all the figure for 2006 ready yet, but in 2005, gross turnover was NOK 42.5 billion, which means that everyone in Norway from the age of 15 staked an average of NOK 11,402 in that year.

Norwegian also gambled for at least NOK 4 billion on unregulated Internet gaming in 2005, a figure that has roughly doubled since 2003.

Looking at the family too

Although the comparison with 2002 is a central aspect of the current study, the survey includes a number of questions that did not form part of the previous version.

"Our study is the first that will also include the families of people with a gambling addiction. It will show how the lives of these persons are affected by the problem for example whether conflicts arise within the family and whether family members experience physical or psychological problems", says Anita Г˜ren.

The previous study, which was performed by the Norwegian Institute for Alcohol and Drug Research, showed that certain groups are overrepresented among problem gamblers; men, young people under the age of 25 and persons from non-Norwegian ethnic backgrounds.

Fewer emergency calls

Both politicians and the medical profession regard gambling as a social problem in Norway today. Addicts and their families have a helpline that they can call for advice and help the Helpline for Gambling Addicts. Helpline traffic statistics from 2006 show that the number of calls fell to 1792, from 2133 the previous year.

The whole of the reduction in Helpline traffic occurred only after the use of banknotes in one-armed bandits was forbidden on July 1st last year. However, more and more people are ringing the Helpline because they have problems with games with non-monetary prizes on the Internet. This time, therefore, the population survey will also ask questions about how people behave on the Internet.

Psychiatrists and psychologists on the team

SINTEF's epidemiological research community is carrying out the survey. Epidemiology is the study of the causes and spread of disease, and epidemiologists often perform studies of whole populations.

In the course of this survey, SINTEF will be collaborating closely with psychiatrists and psychologists who have specialised in gambling addiction. These experts have helped to draw up the questions in the questionnaire and will also provide expertise in the evaluation and discussion of the results.

About the SINTEF

The SINTEF Group is the largest independent research organisation in Scandinavia. Every year, SINTEF supports the development of 2000 or so Norwegian and overseas companies via our research and development activity. The abbreviation SINTEF means The Foundation for Scientific and Industrial Research at the Norwegian Institute of Technology (NTH).

SINTEF
Strindveien 4, Trondheim,
SINTEF

Study On Sibling Detection Mechanism Highlighted In Nature

Fundamental theories in evolutionary biology have long proposed that biological kinship is the foundation of the family unit. It not only creates the sense of altruism that exists among genetically related family members, but also establishes boundaries regarding sexual relations within the nuclear family. Questions have persisted, however, regarding the means by which humans recognize family members -- particularly siblings -- as close genetic relatives.

A team of researchers at the University of California, Santa Barbara, has found evidence of a nonconscious mechanism in the human brain that identifies genetic siblings on the basis of cues that guided our hunter-gatherer ancestors. Their findings are published in the science journal Nature. In a study involving more than 600 test subjects, the researchers found that people felt more altruistic toward individuals this mechanism recognized as siblings, and, at the same time, felt a greater aversion to engaging in incestuous sexual relations with them.

"The old thinking was that Darwinism applied to humans physically, but not socially. Now we see the evolution of a mechanism that finely regulates important aspects of human social behavior," said John Tooby, professor of anthropology and co-director of the Center for Evolutionary Psychology at UCSB. He completed the study with Leda Cosmides, professor of psychology and also co-director of the Center for Evolutionary Psychology, and Debra Lieberman, a former student at the center and now a professor of psychology at the University of Hawaii. Mechanisms such as the one identified in the current study have been found in many species, he added, but their existence in humans had been a matter of controversy.

According to the researchers, the development of altruism between siblings is a result of natural selection, as are their aversions to sexual relations with one another and their aversion to sexual relations among siblings in general. The study's findings indicate these sensibilities are not primarily a result of socialization by parents or peers, but of motivational systems that evolved to respond to cues of genetic relatedness.

The question the researchers sought to answer was how siblings recognize their close genetic matches. Drawing on the socioecology of ancestral human foragers they found the answer in a set of cues that enable humans to identify their brothers and sisters as siblings. For older siblings, what the researchers refer to as "maternal perinatal association" -- seeing their mothers care for infant siblings -- activates the mechanism in the brain, which, in turn, increases feelings of both altruism and sexual aversion toward younger brothers and sisters.

This cue, however, is unavailable to younger siblings whose birth order precludes the opportunity of watching their mothers care for older brothers and sisters. For these siblings, the mechanism is triggered by the amount of time they live together as a family during the period from the younger siblings' infancy through adolescence. The researchers found that this "co-residence" regulates sibling altruism and sexual aversion toward adopted and step-siblings as well -- individuals whom the subjects consciously believe to be genetically unrelated. "This shows that the mechanism operates independently of our beliefs about kinship," Cosmides said. "The cues regulate sibling altruism and sexual aversion, no matter what we believe."

The discovery of a mechanism designed to make family relationships non-erotic casts doubt on Sigmund Freud's view that family members are the first and most powerful objects of sexual desire, say the authors. It also helps to settle a long-running debate in anthropology about whether family relationships are socially created purely by culture, or whether evolved mechanisms in the brain play a role.

The results of the study could also have implications for health care professionals such as psychiatrists and psychologists who treat victims of incest and those who commit it.

"The theory gives a means of identifying who might be at risk," said Tooby. "Siblings who have lived separately for long periods of time have not been exposed to the cues the brain uses to determine who is a sibling. This may offer an explanation as to why someone might have an inclination toward incest." It also suggests, he says, ways of building families that would be more strongly and reliably linked together by bonds of affection.

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Contact: Andrea Estrada
University of California - Santa Barbara

Tiny Genetic Variations Raise Autism Risk

According to international research involving 19 countries, 120 scientists and 50 institutions, tiny variations in genes may increase the risk for autism spectrum disorders (ASD). The Autism Genome Project (AGP) Consortium's report can be seen in the journal Nature Genetics, February 18th issue.

The AGP's aim is to identify specific genes and variants that might raise vulnerability to autism. This includes looking into the how genes interact with other genes, as well as other factors, such as the environment. The scientists are also looking into how potential susceptibility genes may work in the brain to bring about ASD.

NIH Director Elias A. Zerhouni, M.D., said "This is the most ambitious effort yet to find the locations of genes that may confer vulnerability to autism. The AGP is revealing clues that will likely influence the direction of autism research for years to come."

Dr. Bernie Devlin, University of Pittsburgh Medical School , one of the corresponding authors on the project, said "Although we know autism is highly heritable, complex gene interactions and submicroscopic anomalies create a din of statistical noise that drowns out detection of signals from linked sites in the genome. To amplify these signals, we brought to bear gene chip technology with a huge sample, and also screened for these fine-level anomalies, factoring them into the analysis."

The scientists say there are now clues that implicate components of the brain's glutamate neurotransmitter system in ASD. Glutamate is crucial in wiring up the brain early on in its development - glutamate enhances neuronal activity. Some genes that are associated with the glutamate system are located in chromosome regions that are linked to ASD, say the scientists.

New evidence has also emerged linking autism and gene sites for neurexins. Neurexins are molecules that construct glutamate synapses - through which brain cells communicate.

A site on chromosome 11 most strongly linked to autism in this study harbors genes for proteins that shuttle glutamate across the synapse. Although detected previously, the linkage signal at this site was regarded as less important until now.

Submicroscopic anomalies - tiny deletions, or the doubling, tripling or even multiplying of stretches of genetic material - are relatively common in the human genome and aren't necessarily harmful. However, recent evidence suggests that these anomalies may contribute to risk for - or rarely even cause - autism if they affect certain sites associated with the disorder. The AGP researchers found a number of these variations in such suspect chromosomal locations in affected individuals, including deletion of a neurexin gene.

-- Nature Genetics

-- Autism Speaks and the World's Leading Autism Experts Announce the Publication of the Autism Genome Project Phase 1 Results

Written by: Christian Nordqvist
Editor: Medical News Today

Quality Of Life For People With Breast Cancer Improved By Exercise

Group exercise sessions can help to improve the physical and psychological wellbeing of people diagnosed with breast cancer, a new BMJ study reveals today.

Breast cancer is the most commonly occurring cancer among women in the UK. Treatment for cancer, such as chemotherapy and radiotherapy, can badly affect quality of life. However, current cancer rehabilitation programmes are mainly based on psychotherapy or social support, and do not generally deal with the physical problems encountered by patients.

Researchers from Scotland set out to determine if group exercise programmes could prove beneficial to women who were having treatment for early stage breast cancer. Over 200 women took part in the study. They were split into two separate groups; the first (control group) received their usual care, whilst the second group received their usual care plus were invited to take part in a 12 week programme of exercise sessions. Participants in the second group were encouraged to attend two classes - led by trained exercise specialists - and undertake one additional exercise session at home each week.

Following the 12 week session, the researchers analysed the physical and psychological wellbeing of the participants by measuring a number of factors, such as levels of depression, quality of life, mood, shoulder mobility, walking distances and weekly levels of physical activity. These factors were measured after 12 weeks and six months later.

Participants in the second group had better outcomes on both a physical and psychological level than those who had not taken part in the exercise programme, both at the 12 week and six month assessments. Also, after six months those who had exercised had made fewer visits to their GP, and spent fewer nights in hospital, than the participants in the control group.

The researchers say that the benefits experienced by the women may have been caused by the exercise itself or by the group experience, or a combination of both. They conclude that clinicians should encourage activity during cancer treatment for patients, and policy makers should consider including opportunities for exercise in cancer rehabilitation services.

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Contact: Emma Dickinson
BMJ-British Medical Journal

Sexualization Of Girls Is Linked To Common Mental Health Problems In Girls And Women-Eating Disorders

A report of the American Psychological Association (APA) released today found evidence that the proliferation of sexualized images of girls and young women in advertising, merchandising, and media is harmful to girls' self-image and healthy development.

To complete the report, the APA Task Force on the Sexualization of Girls studied published research on the content and effects of virtually every form of media, including television, music videos, music lyrics, magazines, movies, video games and the Internet. They also examined recent advertising campaigns and merchandising of products aimed toward girls.

Sexualization was defined by the task force as occurring when a person's value comes only from her/his sexual appeal or behavior, to the exclusion of other characteristics, and when a person is sexually objectified, e.g., made into a thing for another's sexual use.

Examples of the sexualization of girls in all forms of media including visual media and other forms of media such as music lyrics abound. And, according to the report, have likely increased in number as "new media" have been created and access to media has become omnipresent. The influence and attitudes of parents, siblings, and friends can also add to the pressures of sexualization.

"The consequences of the sexualization of girls in media today are very real and are likely to be a negative influence on girls' healthy development," says Eileen L. Zurbriggen, PhD, chair of the APA Task Force. "We have ample evidence to conclude that sexualization has negative effects in a variety of domains, including cognitive functioning, physical and mental health, and healthy sexual development."

Research evidence shows that the sexualization of girls negatively affects girls and young women across a variety of health domains:

Cognitive and Emotional Consequences: Sexualization and objectification undermine a person's confidence in and comfort with her own body, leading to emotional and self-image problems, such as shame and anxiety.

Mental and Physical Health: Research links sexualization with three of the most common mental health problems diagnosed in girls and women-eating disorders, low self-esteem, and depression or depressed mood.

Sexual Development: Research suggests that the sexualization of girls has negative consequences on girls' ability to develop a healthy sexual self-image.

According to the task force report, parents can play a major role in contributing to the sexualization of their daughters or can play a protective and educative role. The APA report calls on parents, school officials, and all health professionals to be alert for the potential impact of sexualization on girls and young women. Schools, the APA says, should teach media literacy skills to all students and should include information on the negative effects of the sexualization of girls in media literacy and sex education programs.

"As a society, we need to replace all of these sexualized images with ones showing girls in positive settings-ones that show the uniqueness and competence of girls," states Dr. Zurbriggen. "The goal should be to deliver messages to all adolescents-boys and girls-that lead to healthy sexual development."

American Psychological Association (APA)
750 First St., NE
Washington, DC 20002-4242
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http://www.apa.org

World's Largest DNA Scan For Familial Autism Suggests Two New Genetic Links

The first results from a scan of the world's largest collection of DNA samples from families affected by autism point to two new genetic links that may predispose people to the brain disorder. Nature Genetics reports the study's findings in its Feb. 18 online edition.

The five-year study was led by the Autism Genome Project, an international consortium involving scientists from 50 institutions in 19 countries. Founded in 2002 with funding from the nonprofit Autism Speaks and the National Institutes of Health, the group shared DNA samples, data and expertise in a coordinated effort to identify autism-susceptibility genes.

"This degree of collaboration is an unprecedented effort in autism research and demonstrates that a genetic approach is a powerful way to deepen understanding of the disease," said Dr. Daniel Geschwind, director of the Neurogenetics Program at the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA, one of the study's 13 research centers.

"This large-scale study reveals that autism is an extremely diverse condition," Geschwind noted. "Our findings suggest that autism has numerous genetic origins, rather than a single or few major causes."

The consortium used gene-chip technology to search for genetic commonality in autistic individuals from nearly 1,200 families. The scientists also scanned DNA from these families for variations in gene copy numbers -- tiny genomic insertions and deletions that scientists believe might be involved with autism.

"The large number of families in this study permitted us to organize autistic children with similar features of this disorder into smaller groups, where gene linkages may be more easily detected," observed Rita Cantor, professor of human genetics at the David Geffen School of Medicine at UCLA.

Results of the two-pronged approach implicated a previously unidentified region of chromosome 11; and neurexin 1, a member of a gene family believed to play a key role in communication between brain cells. The neurexin finding highlighted a group of brain cells called glutamate neurons and the genes affecting their development and function, suggesting that they play a critical role in autism spectrum disorders.

"We are excited by the results from this large-scale study," said Dr. Stanley Nelson, professor of human genetics at the David Geffen School of Medicine at UCLA, "At the same time, we must greatly increase the number of autistic persons in our genetic analysis in order to fully describe heredity's role in the disease."

"We hope that identifying these genes will provide new insights into what underlies autism," added Geschwind. "We are optimistic that this approach will lead to improved interventions for autistic children and better quality of life for their families."

In 1997, the citizens' group Cure Autism Now (CAN) created a gene bank in order to advance genetic research on autism. UCLA partnered with CAN to add more than 400 families to the gene bank, called the Autism Genetic Resource Exchange, which contributed one-third of the clinical data and samples analyzed by the Autism Genome Project in this study.

The UCLA families who participated had more than one member diagnosed with one of three genetically related diseases: autism, pervasive developmental disorder or Asperger's syndrome. Earlier this month, CAN merged with Autism Speaks to pool their efforts to fund and advance autism research. Autism is a complex brain disorder that strikes in early childhood, often as young as 2 or 3. The condition disrupts a child's ability to communicate and develop social relationships, and is often accompanied by acute behavioral challenges. While the cause remains unknown, scientists suspect the disease is highly hereditary.

Naming autism as a national public health crisis, the Centers for Disease Control and Prevention report that one in 150 American children is diagnosed with an autism spectrum disorder. Affecting four times as many boys as girls, the diagnosis of autism has expanded tenfold in the last decade.

The UCLA Center for Autism Research and Treatment provides diagnosis, family counseling and treatment for patients with autism. Its research focuses on understanding the origins of the disorder's social, communicative and language deficits, and designing and testing new treatments to help autistic children and adults. The center also centralizes autism resources at UCLA and builds partnerships within the autism community.

UCLA is one of eight centers in the NIH-funded Studies to Advance Autism Research and Treatment network, and one of 10 original Collaborative Programs for Excellence in Autism. For more information, see http://www.autism.ucla.edu.

University of California, Los Angeles (UCLA), Health Sciences
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Largest Genomic Search Finds Genes That May Contribute To Autism

An international team of researchers from 19 countries has identified one gene and a previously unidentified region of another chromosome as the location of another gene that may contribute to a child's chances of having autism.

The findings, based on genetic samples from nearly 1,200 families with two or more children who have autism, were published today in Nature Genetics by more than 120 scientists from Europe and North America who make up the Autism Genome Project.

The project was launched in 2002 by scientists at 50 institutions to share data, samples and expertise in an effort to speed up the process of identifying susceptibility genes, those that heighten a child's risk of having the developmental disorder. Seven University of Washington researchers are coauthors of the paper including lead project investigators Gerard Schellenberg and Geraldine Dawson.

The research was funded by Autism Speaks, a nonprofit organization dedicated to increasing awareness of autism and raising money to fund autism research, and the National Institutes of Health.

The consortium scientists utilized statistical power from the largest set of autism-related genetic material yet examined. The researchers found neurexin 1, part of a family of genes that plays a role with the neurotransmitter glutamate, and a still-to-be-pinpointed gene on chromosome 11 to be likely susceptibility genes for autism.

"Neurexin 1 is a highly likely candidate," said Schellenberg, a researcher at the Puget Sound Veterans Affairs Medical Center and a research professor of medicine at the UW. "It is a protein that enables one neuron to contact another neuron. Often you don't have any idea of what a gene does, but in this case we know neurexin 1 is involved at sites where the neurotransmitter glutamate is released. Glutamate is a brain chemical that has been previously implicated in autism. The new finding suggests that the gene is potentially important in autism.

"As for the chromosome 11 location, we think there is another susceptibility gene there and we are actively pursuing it. We are in the neighborhood and have a plan to find it."

Dawson, who directs the UW's Autism Center and is a professor of psychology, said the identification of neurexin 1 is important because glutamate is known to be involved in learning. By identifying this gene it begins to allow researchers "to go from gene to brain to behavior in a way we haven't gone before," she said. "This is a pretty big step and is a precedent showing that autism will require this kind of collaboration to make progress. It is doubtful that any single laboratory could have come up with this kind of finding. This is just the beginning of the fruits from this collaboration."

The Autism Genome Project used two techniques to examine the DNA of the nearly 1,200 families with a history of autism. Researchers used so-called "gene chip" technologies to look for genetic similarities among these family members. In addition, the team scanned the same DNA for what are called copy number variations. These are submicroscopic insertions and deletions of genetic material that scientists believe may be involved with autism and other common diseases.

Schellenberg said copy number variations are fairly common in the human genome and many of them are believed to be benign. "But until you know the function, you don't know what happens when there is an insertion or deletion of this genetic material," he added.

Scientists believe that there may be five or six major genes and perhaps as many as 30 other genes involved in autism. Inheriting more of these genes or certain ones is thought to increase a child's likelihood of being born with autism or a more severe form of the disorder, just as there are genes that heighten a person's chances for inheriting breast cancer or heart disease.

Autism is actually a spectrum of disorders that inhibits a person's ability to communicate and develop social relationships. It is often accompanied by extreme behavior challenges. Autism Spectrum Disorders are diagnosed in one of 166 children in the United States and affect four times as many boys as girls.

"These findings are a piece of the puzzle. As we identify these genes we will be able to screen young children for autism at an early age and begin interventions earlier, which can have a dramatic effect for some children," Dawson said.

A second phase of the Autism Genome Project also was announced today to continue the effort to discover the genes that cause the disorder. This $14.5 million phase is being funded by Autism Speaks, the British Medical Research Council, the Health Research Board of Ireland, Genome Canada and its partners, Canadian Institutes for Health Research, Southwest Autism Research and Resource Center, and the Hilibrand Foundation.

Other UW researchers who contributed to the research are Annette Estes, Jeff Munson, Elena Korvatska, Ellen Wijsman and Chang-En Yu.

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