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Tero Toivanen

Genes implicated in twins' autism | The Autism News - 1 views

  • Researchers have known for years that when one identical twin has autism, the other is also likely to be diagnosed with it – evidence that autism likely has a genetic component.
  • Researchers at Kennedy Krieger Institute studied 277 pairs of twins and found that when one identical twin had the disorder, the other developed it 88 percent of the time; for fraternal twins, that figure was 31 percent.
  • Despite this progress in unlocking the mysteries of autism, scientists have simply confirmed that there are likely numerous genetic links to autism.
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  • Each discovery explains just a tiny fraction of autism’s causes. Researchers think the great majority – 90 percent – of autism cases have a genetic cause, but they’ve found fewer than 10 percent of the triggers.
  • researchers have found about 50 genes so far that might be tied to autism, which explain very few cases, he said.
  • Autism isn’t one disease; it’s too individual to locate just one genetic cause. It’s not like cystic fibrosis, a disorder for which researchers have identified one gene – and tests to diagnose it.
  • autism researchers envision that a wide variety of gene defects are responsible for the symptoms collectively known as autism spectrum disorders. The disabilities, different in each child, range from the mild Asperger syndrome to more severe impairments in social interaction and communication.
  • “It’s going to take some work before we understand the true causes of autism,” he said. “We need to make much more headway to ever have enough understanding so that patient management and therapies can be improved.”
  • None of the new findings explains why more children are being diagnosed with autism. Genes, said Goldstein, tell only part of the story.
  • “The idea is there is an environmental interaction with the genetic component,” he said.
  • Autism may be inherited to some degree, but even twin studies show that not all sets of identical twins have autism. And when they do, they don’t always have the same severity of the disorder
  • That connection between genes and the environment, called epigenetics, might explain these distinctions
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    Researchers have known for years that when one identical twin has autism, the other is also likely to be diagnosed with it - evidence that autism likely has a genetic component.
Tero Toivanen

Research adds to evidence that autism is a brain 'connectivity' disorder - 1 views

  • Now, researchers led by Mustafa Sahin, MD, PhD, of Children's Department of Neurology, provide evidence that mutations in one of the TSC's causative genes, known as TSC2, prevent growing nerve fibers (axons) from finding their proper destinations in the developing brain.
  • Sahin and colleagues showed that when mouse neurons were deficient in TSC2, their axons failed to land in the right places.
  • Further investigation showed that the axons' tips, known as "growth cones," did not respond to navigation cues from a group of molecules called ephrins.
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  • Although the study looked only at retinal connections to the brain, the researchers believe their findings may have general relevance for the organization of the developing brain. Scientists speculate that in autism, wiring may be abnormal in the areas of the brain involved in social cognition.
  • there are either too many connections or too few connections between different parts of the brain
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    Research evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.
Tero Toivanen

Research on the genomics of autism from the Center for Biom - 0 views

  • Research on the genomics of autism from the Center for Biomedical Informatics at The Childrens Hospital of Philadelphia indicated that several genes and genomic variants contribute to autism. The gene alterations are rare but when they are in play, they seem to disrupt genes that are significantly involved in brain development and nerve signaling.
  • According to the September 15, 2010 issue of Science Translational Medicine, males with certain DNA alterations to their X-chromosome are at high risk of having autism.
  • This research was performed at the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), in Toronto Canada.
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  • One percent of boys with autism involved in the study had mutations in the PTCHD1 gene on the X-chromosome. No boys without autism showed this mutation.
  • Girls who also had this mutation did not seem to exhibit autistic traits. It appears that girls may be protected from developing autism because they have a second X-chromosome.
  • Still these girls could be carriers, passing on the mutation to their children. Their sons could then have autism.
  • Certain rare genetic variants were found 20 percent more in children with autism than in other children. Researchers also discovered new disruptions, where a child of non-autistic parents had autism.
  • t appears that some children have private genetic mutations not passed on genetically, and this leaves them more susceptible to autism. Interestingly, each child showed a different disturbance in a different gene.
  • Researchers hope to gain more information as they identify groups of disrupted genes. Ultimately they hope to be able to develop treatments for autism.
Tero Toivanen

News from the Associated Press - newsjournalonline.com - 0 views

  • Leo Lytel was diagnosed with autism as a toddler. But by age 9 he had overcome the disorder. His progress is part of a growing body of research that suggests at least 10 percent of children with autism can "recover" from it - most of them after undergoing years of intensive behavioral therapy.
  • She presented research this week at an autism conference in Chicago that included 20 children who, according to rigorous analysis, got a correct diagnosis but years later were no longer considered autistic.
  • Skeptics question the phenomenon, but University of Connecticut psychology professor Deborah Fein is among those convinced it's real.
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  • Previous studies have suggested between 3 percent and 25 percent of autistic kids recover. Fein says her studies have shown the range is 10 percent to 20 percent.
  • But even after lots of therapy - often carefully designed educational and social activities with rewards - most autistic children remain autistic. Recovery is "not a realistic expectation for the majority of kids," but parents should know it can happen, Fein said.
  • The children in Fein's study, which is still ongoing, were diagnosed by an autism specialist before age 5 but no longer meet diagnostic criteria for autism. The initial diagnoses were verified through early medical records.
  • The researchers are also doing imaging tests to see if the recovered kids' brains look more like those of autistic or nonautistic children.
  • Imaging scans also are being done to examine brain function in formerly autistic kids.
  • Results from those tests are still being analyzed.
  • Most of the formerly autistic kids got long-term behavior treatment soon after diagnosis, in some cases for 30 or 40 hours weekly.
  • Many also have above-average IQs and had been diagnosed with relatively mild cases of autism. At age 2, many were within the normal range for motor development, able to walk, climb and hold a pencil.
  • Significant improvement suggesting recovery was evident by around age 7 in most cases, Fein said.
  • None of the children has shown any sign of relapse. But nearly three-fourths of the formerly autistic kids have had other disorders, including attention-deficit problems, tics and phobias; eight still are affected.
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    Leo Lytel was diagnosed with autism as a toddler. But by age 9 he had overcome the disorder. His progress is part of a growing body of research that suggests at least 10 percent of children with autism can "recover" from it - most of them after undergoing years of intensive behavioral therapy.
Tero Toivanen

Autistic Aphorisms: The Futility of More and More Studies - 0 views

  • The phrase “further research is needed in this area” has become so hackneyed within autism research articles it deserves its own special symbol (might I suggest an emoticon of an extended palm).
  • The problem in autism research is not lack of data. The problem is lack of vision.
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    The problem in autism research is not lack of data. The problem is lack of vision.
Tero Toivanen

Research Unearths New Treatments for Autism - 2 views

  • The Utah researchers found that children receiving a combination of the two treatments (Lovaas-type training at school and TEACCH methods at home) showed three to four times greater progress on all outcome tests than did children who received only the school-based treatment. That study was reported in the Journal of Autism and Developmental Disorders (Vol. 28, No. 1, p. 2532).
  • Researchers in Washington, D.C., are comparing a discrete trial training approach with a "developmental, individual-difference, relationship based" (DIR) approach, says child psychiatrist Stanley Greenspan, MD, professor of psychiatry at George Washington University Medical School.
  • Psychologist Robert Koegel, PhD, at the University of California, Santa Barbara, and his colleagues are attempting to tailor a standard treatment to the specific needs of an autistic child and family. The standard treatment is called pivotal response training
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  • An initial retrospective study is comparing two groups of 20 children initially diagnosed with autism who were functioning well after two or more years of treatment, either with a discrete trial training approach or the DIR approach. The study aims to determine if treatment differences lead to subtle differences in outcome, for example, in terms of flexibility, emotional range, creativity and richness of the child's inner life. Investigators are planning to follow this research with a prospective, randomized, more rigorous study of the two approaches.
  • "In our previous studies we found out that it looks like you can't just deliver a standard treatment to autistic kids, that there's so much variability among the children that what works for one child doesn't work for another child," he says. "Our hypothesis is that...unless you individualize treatment, you're not going to get the best effect."
  • Researchers at the University of Maryland are testing an intervention to trigger children's "social engagement system," which includes behaviors such as listening, looking, facial expressions and vocalizations that support social interaction, says psychologist Stephen Porges, PhD. The treatment is designed to improve autistic children's ability to interact with others, thereby making them more receptive to traditional therapies.
  • The intervention is based on the theory that tensing the middle ear muscles enables people to pick out the human voice from lower frequency sounds in the environment, Porges says. Treatment involves exercising middle ear muscles by playing music that has been altered to include only frequencies associated with the human voice, which improves one's ability to listen to human voices. This, in turn, stimulates the entire social engagement system, Porges says. About 80 percent of 50 children with autism or other behavioral problems receiving this treatment via five 45-minute sessions in a double blind, randomized controlled study showed marked improvements in listening, language and other communication skills.
  • In a report last year in the Journal of Autism and Developmental Disorders (Vol. 28, No. 1, p. 15-23) evaluating an intensive home-based discrete trial training intervention, Stephen Sheinkopf, PhD, of the University of Miami and Bryna Siegel, PhD, of the University of California, San Francisco, noted that children receiving an average of only 21 hours per week of treatment showed gains in IQ comparable to those achieved by children receiving 32 hours per week. The intensity question remains an issue of importance for the autism community. "If we need 40 hours a week, fine," says psychologist Geraldine Dawson, PhD, of the University of Washington. "But if you only need 25, you have to realize that 40 hours is a tremendous burden not only financially, but on families and on the child."
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    Several treatments, and combinations of treatments, are under intense study.
Tero Toivanen

Marlene Behrmann: Connecting Autistic Behavior to Brain Function - 0 views

  • It turns out that in all three of the primary cortices -- visual, auditory and somatosensory -- we did not see the typical response trial after trial in the individuals with autism. Instead, we saw considerable variability -- sometimes a strong response, sometimes a weak response. The fact that we did not see precise responses in autism was a really important result. It suggests that there is something fundamental that is altered in the cortical responses in autism. This variability in the brain response might also possibly explain why individuals with autism find visual stimulation, touch and sound to be so strong and overwhelming.
  • We know from genetic research that many of the neurobiological changes that occur in autism have to do with changes at the level of the synapse, the way that information is transmitted from one neuron to another.
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    "A team of researchers ... were interested in trying to understand on a basic neural level what happens inside the brain that might give rise to the altered behaviors in autism."
Tero Toivanen

Autism finding could lead to simple urine test for the condition - 0 views

  • The researchers behind the study, from Imperial College London and the University of South Australia, suggest that their findings could ultimately lead to a simple urine test to determine whether or not a young child has autism.
  • People with autism are also known to suffer from gastrointestinal disorders and they have a different makeup of bacteria in their guts from non-autistic people.
  • Today's research shows that it is possible to distinguish between autistic and non-autistic children by looking at the by-products of gut bacteria and the body's metabolic processes in the children's urine. The exact biological significance of gastrointestinal disorders in the development of autism is unknown.
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  • The distinctive urinary metabolic fingerprint for autism identified in today's study could form the basis of a non-invasive test that might help diagnose autism earlier. This would enable autistic children to receive assistance, such as advanced behavioural therapy, earlier in their development than is currently possible.
  • The researchers suggest that their new understanding of the makeup of bacteria in autistic children's guts could also help scientists to develop treatments to tackle autistic people's gastrointestinal problems.
  • Professor Jeremy Nicholson, the corresponding author of the study, who is the Head of the Department of Surgery and Cancer at Imperial College London, said: "Autism is a condition that affects a person's social skills, so at first it might seem strange that there's a relationship between autism and what's happening in someone's gut. However, your metabolism and the makeup of your gut bacteria reflect all sorts of things, including your lifestyle and your genes. Autism affects many different parts of a person's system and our study shows that you can see how it disrupts their system by looking at their metabolism and their gut bacteria.
  • We hope our findings might be the first step towards creating a simple urine test to diagnose autism at a really young age
  • A urine test might enable professionals to quickly identify children with autism and help them early on," he added.
  • The researchers reached their conclusions by using H NMR Spectroscopy to analyse the urine of three groups of children aged between 3 and 9: 39 children who had previously been diagnosed with autism, 28 non-autistic siblings of children with autism, and 34 children who did not have autism who did not have an autistic sibling. They found that each of the three groups had a distinct chemical fingerprint. Non-autistic children with autistic siblings had a different chemical fingerprint than those without any autistic siblings, and autistic children had a different chemical fingerprint than the other two groups.
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    This is interesting finding. Hope it will give results!
Tero Toivanen

New Research: Autism and the Brain - 0 views

  • People with autism, new research suggests, may have an unusually large and overactive amygdala. This may be one reason why people with autism are easily overstimulated and have a hard time understanding and managing emotions.
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    People with autism, new research suggests, may have an unusually large and overactive amygdala. This may be one reason why people with autism are easily overstimulated and have a hard time understanding and managing emotions.
Tero Toivanen

Autism Information - Autism Information You Need To Know - 1 views

  • There are plenty of myths about autism spectrum disorders out there.
  • But even those of use who are well-grounded in autism basics may be surprised by some of these facts, which are emerging from recent research.
  • We do know what causes autism -- but only in about 20% of cases.
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  • Quite a few children who are diagnosed with autism at a very young age are no longer diagnosable with autism by the time they’re school-aged.
  • Whatever the reasons, many children who are diagnosed with autism as toddlers will not be diagnosable by the time they're in fifth grade.
  • Early intervention (diagnosis and treatment prior to age three) is very helpful indeed, but there is no “window of opportunity” that slams shut at a certain age. Thus, even children who are diagnosed later or receive less early intervention may do quite well in the long run.
  • Early intervention does, however, provide a now-or-never opportunity to allow non-verbal children to develop some kind of useful tool for communication (picture cards, signs, or even spelling boards).
  • There is no official “cure” for autism. In fact, researchers like Dr. Susan Levy at Children’s Hospital of Philadelphia argue that even when a young child is no longer diagnosable on the autism spectrum, he is probably still autistic.
  • Late talking is not an indication of a poor prognosis.
  • Children with autism may or may not be visual thinkers. Thus, school programs designed with visual thinking in mind may or may not be appropriate for any individual child with autism.
  • After many years of research, we still don’t know which treatments are most effective for which children -- or whether one treatment is more effective than another. Behavioral interventions are the best-researched treatments for autism, but even top scientists acknowledge that developmental interventions may or may not be equally useful for any given child. Meanwhile, only two drugs -- Risperdal and Abilify -- have been approved for use with children on the autism spectrum, and neither addresses “core” issues of autism (social/communication deficits).
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    Important facts and information about autism.
Tero Toivanen

A week ago, a new study published in the Archives of General - 0 views

  • The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism.
  • The team identified 21 spontaneous mutations -- meaning they weren't inherited from either parent -- in the children's DNA. Eleven of these were mutations that would alter the protein encoded by the affected gene. In four of the 20 children, the researchers found mutations that were severe, some of which have been previously linked to autism, intellectual disability, and epilepsy.
  • one child had a mutation in the GRIN2B gene, which is crucial for neuronal signaling.
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  • Another individual had an extra nucleotide in FOXP1, a gene that, along with its close relatives, has been heavily implicated in language defects.
  • These new findings support the 'multi-hit' model of autism, which suggests that having more than one mutation can cause or worsen symptoms of autism and other brain disorders. The different combinations of mutations may contribute to the heterogeneity in ASDs.
  • That such different combinations of genetic mutations contribute to a child being autistic could account for why individuals with an ASD diagnosis have some very similar, and very different, features.
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    "The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism."
Tero Toivanen

Magnetic stimulation helps researchers trigger responses in autistic brain - The Boston... - 0 views

  • Now a small but growing number of researchers see hope in a tool called transcranial magnetic stimulation, which lets scientists spark activity in specific areas of the brain and watch what happens to patients' behavior. The technology may illuminate some of the biology behind the disease, and some specialists speculate it may one day offer a treatment.
  • John Gabrieli, a neuroscientist at Massachusetts Institute of Technology. Transcranial magnetic stimulation "is fantastic for identifying brain regions that are essential for specific mental functions. . . . I think if we can start to use it more systematically with autism, one could hope we'd understand a lot more about what's going on."
  • Researchers at the Boston hospital's Berenson-Allen Center for Noninvasive Brain Stimulation used rapid, repetitive stimulation to simulate what happens in the brain when people learn a new task. Then they gave a single pulse of stimulation and measured minute muscle twitches that told them how long people's brains maintained connections formed by the initial stimulation.In people with no evidence of autism, changes lasted about 30 minutes, on average. But in people on the autism spectrum, the initial stimulation caused brain changes that lasted much longer - on average an hour and a half.
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    Now a small but growing number of researchers see hope in a tool called transcranial magnetic stimulation, which lets scientists spark activity in specific areas of the brain and watch what happens to patients' behavior. The technology may illuminate some of the biology behind the disease, and some specialists speculate it may one day offer a treatment.
Tero Toivanen

How to unleash your brain's inner genius - life - 03 June 2009 - New Scientist - 0 views

  • A flurry of research published earlier this year in the journal Philosophical Transactions of the Royal Society B paints a very different picture. It turns out that these skills are far more common than previously thought. They may even arise from traits found in the general population, implying that savants are not fundamentally different from the rest of us. What's more, these skills may only blossom after years of obsessive practice, raising the question of whether many more people might cultivate similar skills, if only they had the motivation.
  • One of the biggest clues to the origins of savant talent lies in the fact that savants are far more common within the autistic population than among people with other mental difficulties.
  • Previously, about 1 in 10 people with autism were thought to have a special ability but in April, Patricia Howlin at the Institute of Psychiatry at King's College London found a much higher figure in the autistic adults she surveyed for savant skills or an exceptional cognitive ability.
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  • Savant skills included more fully developed talents, such as being able to name the elevation of both the sun and the moon at any time of day, on any specified date; being able to name the day of the week for any date in the distant past or future (a talent known as calendrical calculation) and perfect pitch. Importantly, the abilities and the skills had to be exceptional by the standards of the general population, but also well above the individual's overall level of ability. In total, roughly 30 per cent had some kind of special ability (Philosophical Transactions of the Royal Society B, vol 364, p 1359).
  • For musical savants like Paravicini, Happé suggests that a bias towards small details might have led their developing brains to focus more on the exact notes than the overall melody, leading to perfect pitch and an exceptional musical memory. In art, a focus on small regions of a picture could lead to accurate perspective drawing.
  • Most people find this harder when they are shown an unsegmented version of the pattern versus a segmented one, but people with autism don't have this preference, demonstrating their skill at seeing a whole in terms of its parts even if there are no obvious dividing lines (see diagram). "It shows they are able to do the segmentation in their minds," says Winner. The precocious realists did not have this preference either, indicating a talent for realistic drawing may arise from this isolated trait commonly found in autism (Philosophical Transactions of the Royal Society B, vol 364, p 1449).
  • Although these results help to pinpoint exactly what it is about autism that predisposes people to talent, it's still not clear why an eye for detail is more common in autistic people in the first place. Clues might lie in the work of Simon Baron-Cohen from the University of Cambridge, which suggests that people with autism are "hypersensitive" to sensory information
  • Daniel Tammet, a prodigious savant who has memorised pi to 22,514 digits, believes his own talents have arisen from a special ability to connect different pieces of information together. "Savant abilities are linked to a highly associative type of thinking, an extreme form of a kind that everyone does - examples would include daydreaming, puns and the use of metaphors," he says.
  • The few studies of savant brains certainly suggest they are physically different from the average brain. For example, when Happé and Wallace studied the brain of a savant gifted at art, calendrical calculation and memory, they found his cortex was thicker in the areas associated with visuospatial processing and calculation and thinner in other regions associated with social cognition, compared with people who were neither savants nor autistic. But whether these differences were innate or grew with lifelong practice was still unclear.
  • The answer to that question may come from an unlikely source - a study of London taxi drivers who have acquired an encyclopedic memory of the streets of London known as "the Knowledge". Given that taxi drivers must remember the layout of 25,000 streets and the location of thousands of places of interest, and retrieve the information instantaneously, some researchers like Happé believe the Knowledge qualifies as a savant-like skill.
  • Eleanor Maguire and colleagues at the Institute of Neurology at University College London and colleagues found that drivers with the Knowledge have a bigger rear hippocampus than bus drivers and adults who do not drive taxis. In addition, the hippocampus appears to be larger the longer a taxi driver has been working, and shrinks once they retire (Philosophical Transactions of the Royal Society B, DOI: 10.1098/rstb.2008.0288).
  • In fact, it seems the remaining mystery is not so much how savants achieve their talents, but what drives them in the first place. "Motivation is a big unknown," says Wallace. "It's an enormous driving force in giftedness and in savants, but we don't know a lot about it."
  • One person who has something of an inside view on what contributes to savant ability is Paravicini's mentor, Adam Ockelford, a professor of music at Roehampton University in London who has watched Paravicini's talent blossom since the age of 4. When they first met, Paravicini was entirely self-taught and bashed at his plastic keyboard with his fists and elbows to reproduce the sounds he was hearing. It was only after years of practice that his technical skills developed.
  • But as researchers like Wallace have suggested, Paravicini seemed motivated way beyond the average music student. In fact, he seemed to be playing as if his life depended on it, and Ockelford thinks it's this that truly sets savants apart from their peers. "The survival instinct gets turned with extraordinary force into something else - in Derek's case music," says Ockelford. "When people see Derek, they think it is amazing, almost religious. But to me, it's mainly just hard work."
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    But now researchers are beginning to unearth clues as to how savants' formidable brains work, and that in turn is changing our view of what it means to be a savant.
Tero Toivanen

New study confirms link between advanced maternal age and autism - 4 views

  • Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
  • The researchers note that understanding the relationship between increased parental age and autism risk is critical to understanding its biological causes. Earlier studies have observed that advanced maternal age is a risk factor for a variety of other birth-related conditions, including infertility, early fetal loss, low birth-weight, chromosomal aberrations and congenital anomalies.
  • One possible clue comes from a 2008 UC Davis study that found some mothers of children with autism had antibodies to fetal brain protein, while none of the mothers of typical children did. Advancing age has been associated with an increase in autoantibody production.
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  • They added that some persistent environmental chemicals accumulate in the body and also may have a role to play in autism, possibly contributing to the apparent effect of parental age.
  • The study also suggests that epigenetic changes over time "may enable an older parent to transfer a multitude of molecular functional alterations to a child ... thus epigenetics may be involved in the risks contributed by advancing parental age as a result of changes induced by stresses from environmental chemicals, co-morbidity or assistive reproductive therapy."
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    Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
Tero Toivanen

Autism Research: Keeping an Open Mind - 0 views

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    Autism Research: Keeping an Open Mind
Tero Toivanen

BPS RESEARCH DIGEST: Experts point to lack of gesturing as reason for smaller vocabular... - 0 views

  • The use of gestures, such as pointing, has been recognised as an important aspect of child development for some time. For example, the amount a child gestures at a young age predicts her later vocabulary size.
  • Rowe and Goldin-Meadow found that parents and children from poorer backgrounds (i.e. of low socioeconomic status) used a narrower range of gestures when they interacted with each other compared with parents and children from more affluent backgrounds.
  • Combining this observation with the earlier finding about the role of parental gesturing, implies but by no means proves, that one reason children from poor backgrounds develop smaller vocabularies is because their parents gestured to them less when they were younger.
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    BPS RESEARCH DIGEST: Experts point to lack of gesturing as reason for smaller vocabulary in poor children
Tero Toivanen

Facilitated communication: Facts, Discussion Forum, and Encyclopedia Article - 1 views

  • The procedure is controversial, since a majority of peer reviewPeer reviewPeer review is the process of subjecting an author's scholarly work, research, or ideas to the scrutiny of others who are experts in the same field. Peer review requires a community of experts in a given field, who are qualified and able to perform impartial review...ed scientific studies conclude that the typed language output attributed to the clients is directed or systematically determined by the therapists who provide facilitated assistance. Some peer-reviewed scientific studies have indicated instances of valid FC, and some FC users have reportedly gone on to type independently.
  • Harvard UniversityHarvard UniversityHarvard University is a private university located in Cambridge, Massachusetts and a member of the Ivy League. Founded in 1636 by the colonial Massachusetts legislature, Harvard is the oldest institution of higher learning in the United States and currently comprises ten separate academic units... psychologist Daniel WegnerDaniel WegnerDaniel M. Wegner is an American social psychologist. He is a professor of psychology at Harvard University and a fellow of the American Association for the Advancement of Science. He is known for his work on mental control and conscious will, and for originating the study of transactive memory and... has argued that facilitated communication is a striking example of the ideomotor effectIdeomotor effectThe ideomotor effect is a psychological phenomenon wherein a subject makes motions unconsciously. As in reflexive responses to pain, the body sometimes reacts reflexively to ideas alone without the person consciously deciding to take action..., the well-known phenomenon whereby individuals' expectations exert unconscious influence over their motor actions. Even FC users and proponents do acknowledge the possibility of facilitators at times "guiding" users, consciously or unconsciously. Other theorists (Donnellan and Leary, 1995) argue that autism is in significant part characterized by dyspraxia (a movement disorder), and that there exists a synchronistic "dance" to communication in all mammalian social interaction which accounts for the mixed results in validation studies.
  • Stephen von Tetzchner, the author of another leading textbook on Augmentative and Alternative CommunicationAugmentative and alternative communicationAugmentative and alternative communication is communication for those with impairments or restrictions on the production or comprehension of spoken or written language.-Definition :... has done theoretical research about facilitated communication. In his opinion "The existing evidence clearly demonstrates that facilitating techniques usually led to automatic writingAutomatic writingAutomatic writing is the process or production of writing material that does not come from the conscious thoughts of the writer. Practitioners say that the writer's hand forms the message, with the person being unaware of what will be written...., displaying the thoughts and the attitudes of the facilitators."
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  • Mark Mostert (2001) says: "Previous reviews of Facilitated Communication (FC) studies have clearly established that proponents' claims are largely unsubstantiated and that using FC as an intervention for communicatively impaired or noncommunicative individuals is not recommended." In March 2007, Scott Lilienfeld included facilitated communication on a list of treatments that have the potential to cause harm in clients, published in the APSAssociation for Psychological ScienceThe Association for Psychological Science , previously the American Psychological Society, is a non-profit organization whose mission is to promote, protect, and advance the interests of scientifically oriented psychology in research, application, teaching, and the improvement of human welfare... journal Perspectives on Psychological Science.
  • The phrase "independent typing" is defined by supporters of FC as "typing without physical support", i.e., without being touched by another person. Skeptics of FC do not agree that this definition of independence suffices because of the possibility of influence by the facilitator. For example, Sue RubinSue RubinSue Rubin is a functionally non-verbal published autistic author who was the subject of the Oscar-nominated documentary Autism Is A World in which she communicated via the controversial communication technique of facilitated communication...., an FC user featured in the autobiographical documentary Autism Is A World, reportedly types without anyone touching her; however, she reports that she requires a facilitator to hold the keyboard and offer other assistance.
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    The procedure is controversial, since a majority of peer reviewed scientific studies conclude that the typed language output attributed to the clients is directed or systematically determined by the therapists who provide facilitated assistance. Some peer-reviewed scientific studies have indicated instances of valid FC, and some FC users have reportedly gone on to type independently.
Tero Toivanen

New Study: Autism has Multiple Genetic Roots | Suite101 - 3 views

  • The study’s major finding was that children with ASD have significantly more CNVs affecting their genes than children without ASD. Children with ASD have 20 percent more CNVs in general, and 70 percent more CNVs impacting genes known to be associated with ASD or cognitive problems. Significantly, many of the genes that are affected control important functions such as cell proliferation and cell-to-cell communication.
  • Some of the newly discovered genetic variants are inherited, and are found in parents or siblings of children with them. Others, however, seem to have originated spontaneously in the affected child, and do not appear in other family members.
  • While these findings add significantly to the scientific understanding of the genetic and biological underpinnings of ASD, the immediate usefulness is limited. That’s because there are a very large number of CNVs, and each child shows a different pattern of genetic changes. Each of these changes is rare; no CNV showed up in more than one percent of the children studied.
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  • “This will lead to a paradigm shift in understanding the etiology of autism,” says Stephen Scherer, a senior scientist at The Hospital for Sick Children in Toronto, Canada. “Until now, most scientists thought individuals with autism shared common genes. We now think each person has his own rare variations.”
  • If significant CNVs show up, behavioral treatment can be started early. That has been shown to improve children’s outcomes significantly. “If we provide stimulation early, while the brain is still plastic, we can improve cognitive development, social interaction and communication,” says Geri Dawson, Chief Science Officer of Autism Speaks, the major sponsor of the research project.
  • What this new research suggests is that autism and ASD probably result from the interaction between many different genes and a child’s environment. Rather than search for one single cause and one “magic bullet,” researchers will try to find as many significant genetic variants as possible, link them to the biological functions and pathways they control, and then search for medications that can improve or normalize the functioning of damaged pathways.
Tero Toivanen

Researchers reveal first brain study of Temple Grandin - - 0 views

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    Unlike controls ..., Temple Grandin has lateral ventricles... that are significantly larger on the left side of her brain than on the right.
Tero Toivanen

Autism-like behaviors reversed in mice: New hope for understanding autism - 3 views

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    "Researchers from McGill University and the University of Montreal have identified a crucial link between protein synthesis and autism spectrum disorders (ASD), which can bolster new therapeutic avenues."
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