Contact: Emily Butler
Kennedy Krieger Institute
Researchers at the Kennedy Krieger Institute recognize children with autism earlier than ever before, paving the way for earlier intervention and improved outcomes
(Baltimore, MD) — In a study published today in the Archives of General Psychiatry, researchers from the Kennedy Krieger Institute in Baltimore, Maryland found that autism can be diagnosed at close to one year of age, which is the earliest the disorder has ever been diagnosed. The study, which evaluated social and communication development in autism spectrum disorders (ASD) from 14 to 36 months of age, revealed that approximately half of all children with autism can be diagnosed around the first birthday. The remaining half will be diagnosed later, and their development may unfold very differently than children whose ASD is diagnosable around the first birthday. Early diagnosis of the disorder allows for early intervention, which can make a major difference in helping children with autism reach their full potential.
Researchers examined social and communication development in infants at high and low risk for ASD starting at 14 months of age and ending at 30 or 36 months (a small minority of the children exited the study at 30 months). Half of the children with a final diagnosis of ASD made at 30 or 36 months of age had been diagnosed with the disorder at 14 months, and the other half were diagnosed after 14 months. Through repeated observation and the use of standardized tests of development, researchers identified, for the first time, disruptions in social, communication and play development that were indicative of ASD in 14-month olds. Multiple signs indicating these developmental disruptions appear simultaneously in children with the disorder.
Dr. Rebecca Landa, lead study author and director of Kennedy Krieger’s Center for Autism and Related Disorders, and her colleagues identified the following signs of developmental disruptions for which parents and pediatricians should be watching:
Abnormalities in initiating communication with others: Rather than requesting help to open a jar of bubbles through gestures and vocalizations paired with eye contact, a child with ASD may struggle to open it themselves or fuss, often without looking at the nearby person.
Compromised ability to initiate and respond to opportunities to share experiences with others: Children with ASD infrequently monitor other people’s focus of attention. Therefore, a child with ASD will miss cues that are important for shared engagement with others, and miss opportunities for learning as well as for initiating communication about a shared topic of interest. For example, if a parent looks at a stuffed animal across the room, the child with ASD often does not follow the gaze and also look at the stuffed animal. Nor does this child often initiate communication with others. In contrast, children with typical development would observe the parent’s shift in gaze, look at the same object, and share in an exchange with the parent about the object of mutual focus. During engagement, children have many prolonged opportunities to learn new words and new ways to play with toys while having an emotionally satisfying experience with their parent.
Irregularities when playing with toys: Instead of using a toy as it is meant to be used, such as picking up a toy fork and pretending to eat with it, children with ASD may repeatedly pick the fork up and drop it down, tap it on the table, or perform another unusual act with the toy.
Significantly reduced variety of sounds, words and gestures used to communicate: Compared to typically developing children, children with ASD have a much smaller inventory of sounds, words and gestures that they use to communicate with others.
“For a toddler with autism, only a limited set of circumstances – like when they see a favorite toy, or when they are tossed in the air – will lead to fleeting social engagement,” said Landa. “The fact that we can identify this at such a young age is extremely exciting, because it gives us an opportunity to diagnose children with ASD very early on when intervention may have a great impact on development.”
The current study reveals that autism often involves a progression, with the disorder claiming or presenting itself between 14 and 24 months of age. Some children with only mild delays at 14 months of age could go on to be diagnosed with ASD. Landa and her colleagues observed distinct differences in the developmental paths, or trajectories, of children with early versus later diagnosis of ASD. While some children developed very slowly and displayed social and communication abnormalities associated with ASD at 14 months of age, others showed only mild delays with a gradual onset of autism symptoms, culminating in the diagnosis of ASD by 36 months.
If parents suspect something is wrong with their child’s development, or that their child is losing skills during their first few years of life, they should talk to their pediatrician or another developmental expert. This and other autism studies suggest that the “wait and see” method, which is often recommended to concerned parents, could lead to missed opportunities for early intervention during this time period.
“What’s most exciting about these important advancements in autism diagnosis is that ongoing intervention research leads us to believe it is most effective and least costly when provided to younger children,” said Dr. Gary Goldstein, President and CEO of the Kennedy Krieger Institute. “When a child goes undiagnosed until five or six years old, there is a tremendous loss of potential for intervention that can make a marked difference in that child’s outcome.”
While there are currently no standardized, published criteria for diagnosing children with autism at or around one year of age, Landa’s goal is to develop these criteria based on this and other autism studies currently underway at the Kennedy Krieger Institute. Landa and her colleagues at the Institute plan on releasing preliminary diagnostic criteria for very young children with autism in an upcoming report.
Participants in the current study included infants at high risk for ASD (siblings of children with autism, n=107) and low risk for ASD (no family history of autism, n=18). Standardized tests of development and play-based assessment tools were used to evaluate social interaction, communication and play behaviors in both groups at 14, 18 and 24 months of age. Researchers assigned diagnostic impressions at every age, indicating whether there were clinically significant signs of delay or impairment. After their last evaluation at 30 or 36 months, each participant was then given a final diagnostic classification of ASD, non-ASD impairment, or no impairment. The ASD group was further divided into an Early ASD diagnosis group and a Later ASD diagnosis group based on whether they were given a diagnosis of ASD at 14 or 24 months.
Autism spectrum disorders (ASD) is the nation’s fastest growing developmental disorder, with current incidence rates estimated at 1 in 150 children. This year more children will be diagnosed with autism than AIDS, diabetes and cancer combined, yet profound gaps remain in our understanding of both the causes and cures of the disorder. Continued research and education about developmental disruptions in individuals with ASD is crucial, as early detection and intervention can lead to improved outcomes in individuals with ASD.
About the Kennedy Krieger Institute
Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 13,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit http://www.kennedykrieger.org.
Contact: Don McSwiney
University of Calgary
University of Calgary researcher hopes to advance understanding of autism by studying ancient human searching behavior
Next time you lose your car keys and enlist the family to help you search, try a little experiment. After your spouse searches an area, go and look in the same place. It will likely feel strange, even irritating to both of you – and that’s because you may be fighting an ancient, hard-wired, human behaviour pattern.
The behavioural phenomenon is called ‘inhibition of return’ and for our ancient hunter-gatherer ancestors it made a lot of sense. As Dr. Tim Welsh explains, “This behaviour likely developed through evolution to increase search efficiency. Returning to search an area that someone else has already searched doesn’t make a lot of sense from a survival point of view because they’ve either found the food and eaten it, or there’s no food there.”
Inhibition of return has been well-documented over the years, but Welsh is interested in measuring exactly how the actions of another individual affect our own, and whether people with autism react differently than the rest of the population. To test this Welsh, a professor in the Faculties of Kinesiology and Medicine, came up with a unique and elegant experiment that uses some cutting-edge technology.
In Welsh’s set-up, two subjects sit across from each other wearing, liquid crystal goggles. They are told to reach for a lighted target in front of them.
Welsh’s previous work has shown that if we see someone else touching an area, we are much slower to move there, but Welsh wanted to see how much of another person’s actions we need to be aware of, to affect our own. Welsh’s crystal goggles become opaque allowing the subject to see only a fraction of the other person’s movement.
He discovered that as social beings, we are so sensitive to another’s actions that just the suggestion of a movement was enough to trigger the inhibition of return effect.
So what happens when the individual doesn’t really recognize, or can’t recognize the actions of another individual” Sadly this is often the case for people with autism, a complex neurological, developmental disability that affects over 50,000 Canadians. A current theory of autism is that individuals with the disorder have a problem with their mirror neuron system.
“In normal individuals if you see someone throwing a ball, your mind will ‘mirror’ those actions to make it seem as if you are throwing it yourself,” Welsh explains. “The theory is that a person with autism may not be able to mirror the actions of other individuals. So in our experimental set-up you would expect them to be unaffected by the actions of another person and this is exactly what we have found to this point.”
Welsh believes his research will advance our understanding of autism and the mirror neuron system – perhaps leading to more effective intervention and treatment of a condition that seems to be growing at an alarming rate. “What I think is very interesting,” says Welsh, “is that the same experimental set-up can effectively be used to test two theories, and in many ways the two groups we are working with – a typically-developing population and an autistic population – provide a control for the other group. I’m very excited about this research.”
Dr. Welsh is currently looking for people between the ages of 14 and 25 to participate in his experiments. He is looking for with people autism and people from the typically-developing population.
Contact: Emily Butler
Kennedy Krieger Institute
(Baltimore, MD) — The Interactive Autism Network (IAN)—the first national online autism registry spearheaded by the Kennedy Krieger Institute—has registered an unprecedented number of individuals and families living with autism. Never before have researchers been offered access to such a large pool of family-provided data on this puzzling disorder. In only one month, IAN (www.IANproject.org) has achieved significant milestones:
More than 13,000 registered participants
Representation in all 50 states as well as the District of Columbia, American Samoa, Northern Mariana Islands, Guam, Marshall Islands and Palau
Diverse family registration, including: six sets of triplets, 37 sets of identical twins and 157 sets of fraternal twins
Researchers from institutions across the country have already begun to access IAN data to:
Supplement and enhance current research studies
Compare and validate existing research results obtained from smaller sample sizes
Explore hypotheses for future research and search for parallels among individuals with autism and their families in a way that was not previously possible
“In one short month, IAN has become the country’s largest pool of autism data,” said Dr. Paul Law, Director, Interactive Autism Network at the Kennedy Krieger Institute in Baltimore, Maryland. “The fact that IAN has already become a vital resource for researchers, so early in its lifespan, bodes extremely well for the potential of this project, and ultimately, to the pursuit of answers in autism.”
IAN has become successful in registering families largely due to the tight knit nature of the autism community and the outpouring of support from parents. Testimonials continue to echo the great need for and tremendous potential of IAN.
“What better opportunity to help our children, to help each other and to learn more about autism. We have been given the power to DO SOMETHING to combat autism. Go to the website, accept this responsibility & watch us change the future of this heartbreaking disorder.”
Posted on CNN.com Health Blog by an IAN participant
IAN is funded by a grant from Autism Speaks, a non-profit organization dedicated to increasing awareness about the growing autism health crisis and raising funds for critical autism research.
About the Kennedy Krieger Institute
Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 12,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit http://www.kennedykrieger.org.
Global Health Vision
Contact: Linda Joy
NIH/National Institute on Aging
Nutritionists have long endorsed fish as part of a heart-healthy diet, and now some studies suggest that omega-3 fatty acids found in the oil of certain fish may also benefit the brain by lowering the risk of Alzheimer’s disease. In order to test whether an omega-3 fatty acid can impact the progression of Alzheimer’s disease, researchers supported by the National Institute on Aging (NIA), part of the National Institutes of Health, will evaluate one in a clinical trial, the gold standard for medical research.
The study will be conducted nationwide by the Alzheimer’s Disease Cooperative Study (ADCS), a consortium of leading researchers supported by NIA and coordinated by the University of California, San Diego. The trial will take place at 51 sites across the United States and seeks 400 participants age 50 and older who have mild to moderate Alzheimer’s disease. Joseph Quinn, M.D., associate professor of neurology at Oregon Health and Science University, is directing the study.
Researchers will be evaluating primarily whether the omega-3 fatty acid DHA (docosahexaenoic acid), taken over many months, slows the progression of both cognitive and functional decline in people with mild to moderate Alzheimer’s. During the 18-month clinical trial, investigators will measure the progress of the disease using standard tests for functional and cognitive change.
“The evidence to date in observational and animal studies on omega-3 fatty acids and Alzheimer’s disease warrants further evaluation in a rigorous clinical trial,” says NIA Director Richard J. Hodes, M.D. “This study is one of a number we are undertaking in the next few years through the ADCS to test compounds that might play a role in preventing or delaying the symptoms of this devastating disease.”
“By participating in this study, volunteers will make an invaluable contribution to Alzheimer’s disease research progress,” says Quinn, the study’s principal investigator. “We are indebted to those who graciously volunteer to participate in clinical studies.”
The trial will use DHA donated by Martek Biosciences Corporation of Columbia, Md. Participants will receive either two grams of DHA per day or an inactive placebo pill. About 60 percent of participants will receive DHA, and 40 percent will get the placebo. Doctors and nurses at the 51 research clinic sites will monitor the participants in regular visits throughout the trial. To ensure unbiased results, neither the researchers conducting the trial nor the participants will know who is getting DHA and who is getting the placebo.
In addition to monitoring disease progression through cognitive tests, researchers will also evaluate whether taking DHA supplements has a positive effect on physical and biological markers of Alzheimer’s, such as brain atrophy and proteins in blood and spinal fluid.
To learn how to participate in the study, contact NIA’s Alzheimer’s Disease Education and Referral (ADEAR) Center at 1-800-438-4380 or by email to email@example.com. To view a list of the research sites, go to http://www.nia.nih.gov/Alzheimers.
NIA leads the federal effort supporting and conducting research on aging and the medical, social and behavioral issues of older people, including Alzheimer’s disease and age-related cognitive decline. For information on dementia and aging, please visit the NIA’s ADEAR Center at http://www.nia.nih.gov/alzheimers, or call 1-800-438-4380. For more general information on research and aging, go to http://www.nia.nih.gov.
NIH–the nation’s medical research agency–includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.
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Contact: Jim Dryden
Washington University School of Medicine
Using an innovative statistical approach, a research team from Washington University School of Medicine in St. Louis and the University of California, Los Angeles, has identified two regions of DNA linked to autism. They found the suspicious DNA with a much smaller sample of people than has been used traditionally in searches for autism genes.
Autism — a disorder that involves social deficits, language problems and repetitive, stereotyped behaviors — affects around one in 1,000 children. And the combined incidence of autism spectrum disorders, which include Asperger syndrome and pervasive developmental disorder, brings the total number of affected children to one in every 150 births. Boys are affected three to four times more often than girls.
There’s clearly a genetic component to autism, according to John N. Constantino, M.D., associate professor of psychiatry and pediatrics at Washington University School of Medicine and a co-principal investigator on this latest study. If one child in a family is autistic, there’s a 10 percent chance a sibling also will have autism. Past research has isolated a few regions of DNA linked to autism, but very few of those studies have been replicated, so no specific autism genes have yet been identified.
“Those older studies used what’s called an ‘affected sib pair’ design that looks for genetic markers in siblings with autism,” says Constantino. “That approach has worked well for single-gene disorders, but autism is a complex disease that may involve many genes that each make very small contributions. When that’s the case, it’s harder to find genetic markers.”
So Constantino’s group, in collaboration with the other co-principal investigator, Daniel H. Geschwind, M.D., Ph.D., and neuropsychiatric and genetics researchers at UCLA, is using a different approach. They report their findings in the April issue of the American Journal of Psychiatry.
“Although we once believed you either had this condition or you didn’t, we now know that there’s a continuous distribution of autism symptoms from very mild to very severe,” Constantino says.
That means in families where a child is autistic, parents and unaffected siblings may have very subtle communication impairments or behavioral tendencies that would be considered autistic only in their most severe forms. Those traits may indicate genetic tendencies that contribute to autism and now can be measured with a diagnostic interview tool called the Social Responsiveness Scale (SRS), which Constantino developed with his colleague Richard D. Todd, Ph.D., M.D., at Washington University.
Using the SRS to gather data about both children with autism and their unaffected parents and siblings allowed the researchers to take a more quantitative approach to find subtle symptoms of autism that aggregate in families. In all, they used the SRS to study members of 99 families who were part of the Autism Genetic Resource Exchange (AGRE).
“We characterized everyone using the quantitative measures that the Social Responsiveness Scale provides,” Constantino explains. “With the SRS, we looked not just at whether a person has autism but more systematically at the degree of autistic impairment. Then we analyzed their genetic material and found significant linkage to these symptoms on regions of chromosomes 11 and 17.”
Older survey methods also had flagged those regions of DNA, but those studies used samples more than three times larger than this study. Constantino and Geschwind believe the fact that they identified the same areas of DNA means that their quantitative method can find genes related to autism and that if used in bigger samples, it may be able isolate other suspicious regions of DNA that studies using traditional methods can’t find.
The researchers now have begun to make more detailed maps of the chromosome regions related to autism. They’re also using the SRS to study more families.
In theory, the greater statistical power of their method will be magnified as the researchers study larger numbers of people. They say that power may help them isolate many more genes that might contribute to autism spectrum disorders. They’ll also continue to look closely at genes in the suspicious DNA regions identified so far and try to figure out what’s going on at the genetic level to make some children autistic.
“We know that the dopamine D4 receptor gene is in the region we’ve identified on chromosome 11,” Constantino says. “That receptor is important in many brain functions. But there are many genes in the regions we’ve identified, and our focus is on refining the signal so that we can reduce the number of candidate genes and then look more closely at how those genes might be contributing to this devastating disorder.”
Constantino believes ultimately the search will lead to the discovery of many genes that contribute to autism and that scientists may need to find several of them before they begin to understand how genetic variations actually lead to the disorder.
“The genetic factors tend to interact with one another,” he says. “One gene might increase risk by 10 percent, but two genes, in the proper combination, might increase the risk 10-fold. We expect that as we find additional susceptibility factors the amount of their causal influence will increase exponentially, and we’ll get a clearer picture of how genes contribute to autism and may even find ways to intervene.”
The Autism Genetic Resource Exchange (AGRE) is a collaborative gene bank designed to speed to pace of research to find the genes and ultimately the cure for autism. AGRE was established by the non-profit foundation Cure Autism Now.
For more information about autism studies at Washington University, please call Teddi Gray, research coordinator for the Social Developmental Studies program at (314) 286-0068.
Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH. A quantitative trait locus analysis of social responsiveness in multiplex autism families. American Journal of Psychiatry, vol. 164:4, pp. 656-662 April 2007
This research was supported by the National Institutes of Health and Cure Autism Now.
Constantino JN, Todd RD. Intergenerational transmission of subthreshold autistic traits in the general population. Biological Psychiatry, vol. 57:6, pp. 655-660, March 15, 2005.
Constantino JN, Todd RD. Autistic traits in the general population. Archives of General Psychiatry, vol. 60:6, pp. 524-530, May 2003.
Washington University School of Medicine’s full-time and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked fourth in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.
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