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Tero Toivanen

Autism Research Blog: Translating Autism: Amygdala, autism and clinical impairment: Whe... - 0 views

  • The amygala serves a critical function in emotion recognition and processing, and thus it has been implicated in the neurophysiology of autism. For example, individuals with autism have been found to display atypical amygdala growth processes from childhood into adolescence (see for example Nacewiz et al., 2006. Archives of General Psychiatry, 63,12).
  • The Amygdale's bilateral biochemical functioning was obtained via magnetic resonance spectroscopy. Four metabolites were measured: N-acetyl aspartate (NAA), creatine/Phosphocreatine (Cre), choline (Cho), and myoinositol (ml).
  • The authors did not find any differences in the concentrations of any of the metabolites when comparing the HFA and the control groups
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  • However, among the individuals with HFA, NAA was significantly associated with communication impairments, as measured by the ADI. In addition, Cre and NAA were associated with restrictive interests, and Cre alone was associated with social difficulties. The results therefore, indicate that those with the lowest concentrations of these metabolites tended to have more severe clinical symptoms as reported by the ADI.
  • The results of this study provide support for the need to conduct examinations that go beyond simple group comparisons.
  • key metabolites, while observed at normative levels, play a key role in the clinical presentation of the disorder.
  • presence of normative functioning in a particular domain or brain process (when compared to typical peers) does not necessarily indicate that such domain is not implicated in the phenomenology of the condition.
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    Amygdala, autism and clinical impairment: When group comparisons are not enough. The results of this study provide support for the need to conduct examinations that go beyond simple group comparisons. In this case, the authors found no differences in any of the metabolites between the two groups, which could easily lead one to conclude that such metabolites may not play a role in autism. Yet, the results were strong in indicating that key metabolites, while observed at normative levels, play a key role in the clinical presentation of the disorder.
Tero Toivanen

Childhood disintegrative disorder: Symptoms - MayoClinic.com - 0 views

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    Symptoms Children with childhood disintegrative disorder typically show the following signs and symptoms:
Tero Toivanen

Childhood disintegrative disorder - MayoClinic.com - 0 views

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    Definition Childhood disintegrative disorder is a condition in which children develop normally until age 3 or 4, but then demonstrate a severe loss of social, communication and other skills.
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

The Mirror Neuron Revolution: Explaining What Makes Humans Social: Scientific American - 0 views

  • In recent years, Iacoboni has shown that mirror neurons may be an important element of social cognition and that defects in the mirror neuron system may underlie a variety of mental disorders, such as autism.
  • Mirror neurons are the only brain cells we know of that seem specialized to code the actions of other people and also our own actions. They are obviously essential brain cells for social interactions. Without them, we would likely be blind to the actions, intentions and emotions of other people.
  • The way mirror neurons likely let us understand others is by providing some kind of inner imitation of the actions of other people, which in turn leads us to “simulate” the intentions and emotions associated with those actions. When I see you smiling, my mirror neurons for smiling fire up, too, initiating a cascade of neural activity that evokes the feeling we typically associate with a smile.
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  • In 2006 your lab published a paper in Nature Neuroscience linking a mirror neuron dysfunction to autism. How might reduced mirror neuron activity explain the symptoms of autism?
  • Reduced mirror neuron activity obviously weakens the ability of these patients to experience immediately and effortlessly what other people are experiencing, thus making social interactions particularly difficult for these patients. Patients with autism have also often motor problems and language problems. It turns out that a deficit in mirror neurons can in principle explain also these other major symptoms. The motor deficits in autism can be easily explained because mirror neurons are just special types of premotor neurons, brain cells essential for planning and selecting actions. It has been also hypothesized that mirror neurons may be important in language evolution and language acquisition.
  • Thus, a deficit in mirror neurons can in principle account for three major symptoms of autism, the social, motor and language problems.
  • There is convincing behavioral evidence linking media violence with imitative violence. Mirror neurons provide a plausible neurobiological mechanism that explains why being exposed to media violence leads to imitative violence.
  • I think there are two key points to keep in mind. The first one is the one we started with: mirror neurons are brain cells specialized for actions. They are obviously critical cells for social interactions but they can’t explain non-social cognition. The second point to keep in mind is that every brain cell and every neural system does not operate in a vacuum. Everything in the brain is interconnected, so that the activity of each cell reflects the dynamic interactions with other brain cells and other neural systems.
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    In recent years, Marco Iacoboni, a neuroscientist at the University of California at Los Angeles, has shown that mirror neurons may be an important element of social cognition and that defects in the mirror neuron system may underlie a variety of mental disorders, such as autism.
Tero Toivanen

A Radical New Autism Theory - Page 1 - The Daily Beast - 0 views

  • . As posited by Henry and Kamila Markram of the Swiss Federal Institute of Technology in Lausanne, suggests that the fundamental problem in autism-spectrum disorders is not a social deficiency, but rather an hypersensitivity to experience, which includes an overwhelming fear response.
  • “There are those who say autistic people don’t feel enough,” says Kamila Markram. “We’re saying exactly the opposite: They feel too much.” Virtually all people with ASD report various types of oversensitivity and intense fear
  • “I think most people with ASD feel emotional empathy and care about the welfare of others very deeply.”
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  • A groundbreaking study suggests people with autism-spectrum disorders such as Asperger’s do not lack empathy—rather they feel others’ emotions too intensely to cope.
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    A groundbreaking study suggests people with autism-spectrum disorders such as Asperger's do not lack empathy-rather they feel others' emotions too intensely to cope.
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: Intelligence, Genius, and Autism - 0 views

  • Professor James Flynn has incorporated an interesting sidebar into his book What is Intelligence? In it he lists his seven choices for Western civilization’s greatest minds: Pythagoras, Plato, Aristotle, Archimedes, Newton, Gauss, and Einstein.
  • Hundreds of research teams, maybe even thousands by now, have so convinced themselves that intelligence must originate from inside our skulls, have so convinced themselves that only within networks of cranial neurons can be found the secrets to humanity’s growing mental capacity, that all have managed to overlook completely the far more plausible alternative—the one existing right before our very eyes.
  • It is time to reconsider that conventional wisdom, time to regard genius with a different set of eyes; for genius is not a function of greater intelligence, genius is the description of how intelligence grows.
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  • Look at the content of any intelligence test—language, arithmetic, patterns, designs. What we measure with the aid of those I.Q. booklets are not the abilities we inherited from out our animal past, but instead their exact counterpart; we measure only those skills the species has been adding throughout all its history since. In some sense, an intelligence test measures the modernness of an individual; an intelligence test measures an individual’s ability to appropriate for himself the same set of skills the species has been appropriating as a whole—skills that do not find their origin in our biological nature, but instead owe their existence to the strange, brewing mixture of non-biological pattern, structure and form that has been rapidly taking shape all around us.
  • The unusual characteristics of humanity’s transformational individuals are not the result of their genius, they are genius’s prerequisite
  • But counter to prevailing wisdom, there are many autistic individuals—most likely a majority—who do make substantial progress by means of an alternative perceptual course, a course that allows them not only to navigate meaningfully their surrounding world, but also to assimilate, if somewhat awkwardly and belatedly, to the human species itself (and thereby explaining how autism, estimated to be present in nearly one percent of the human population, could go entirely unrecognized until as recently as sixty-five years ago).
  • all autistic individuals must crystallize their existence by means of this alternative perceptual course—it becomes, in essence, autism’s most salient feature.
  • The unusual behaviors and interests of autistic children—lining up toys, staring at ceiling fans, twirling, flapping hands repeatedly, fascination with knobs, buttons, switches, letters, shapes and digits, watching the same video again and again, singing the same song over and over—these activities betray a form of perception completely unlike that of most other children, a perception noticeably absent in social and biological focus, but also noticeably drawn to symmetry, repetition and pattern.
  • The unusual routines of autistic children are the natural, indeed the expected, mode of expression for a form of perception engaged primarily by the structural aspects of the non-social, non-biological world.
  • Autistic individuals would have been the first to notice the inherent structure contained in the natural world—the geometry of plants, the isomorphisms of natural objects, the logic of the celestial seasons—only they would have had motivation to embrace such form, only they would have had the need to perceive nature’s symmetry, repetition and pattern in order to form their cognitive grounding.
  • We know only bits and pieces about the four Greeks on Professor Flynn’s list, but filling in with the traits from the list’s more modern members, we can reasonably summarize all the unifying characteristics: late- or strange-talking, socially awkward, irascible, obsessed with structure, compelled by form, unusually—not necessarily greatly—intelligent.
  • The continuing medicalization of autism, the insistent demonization of autism’s spontaneous effect—these carry the danger of an unforeseen consequence. For the cure of autism will not be the end of a tragic brain disorder; autism’s eradication will not see the passing of a troubling mental disease. The removal of autism from the entire human species will produce only an ironic solution to the mystery of our expanding human intelligence, it will produce the ignoble end to the Flynn effect.
  • When confronted by data that runs counter to our accustomed way of seeing things, we as humans have but two choices: we can try to explain the results away, or we can adjust our perception of the experienced world. The former choice paves the all-too-common road of modern academic science; the latter, as described above, walks the more promising path of genius.
  • Autism is not a mental illness, not a brain disorder, it is instead the source of humanity’s changing perception of its experienced world; it is, with care and understanding, genius’s fertile soil.
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    Autism is not a mental illness, not a brain disorder, it is instead the source of humanity's changing perception of its experienced world; it is, with care and understanding, genius's fertile soil.
Tero Toivanen

Is Your Child Autistic -- Or Could He Have This Syndrome? - 0 views

  • Children’s Hospital & Research Center Oakland scientist and pediatric emergency medicine physician, Claudia Morris, MD says she has identified a syndrome which combines apraxia (a speech disorder) with symptoms often associated with autism. Many of these symptoms are precisely the ones that are pointed to by those whose children appear to benefit from biomedical treatments -- specifically Gluten and Casein-free diets and vitamin supplements.
  • The data clearly demonstrated a common cluster of allergy, apraxia and malabsorption, along with low muscle tone, poor coordination and sensory integration abnormalities. In addition, Dr. Morris was able to gather laboratory analyses in 26 of the children, which revealed low carnitine levels, abnormal celiac panels, gluten sensitivity, and vitamin D deficiency among others. All children genetically screened carried an HLA gene associated with gluten sensitivity and celiac disease.
  • Most significantly, the data indicate that the neurologic dysfunction represented in the syndrome overlaps the symptoms of vitamin E deficiency. While low vitamin E bioavailability may occur due to a variety of different causes, neurological consequences are similar, regardless of the initiating trigger. The study suggests that vitamin E could be used as a safe nutritional intervention that may benefit some children. Growing evidence support the benefits of omega 3 fatty acid supplementation in a number of neurodevelopmental disorders.
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  • Like all preliminary studies, this one is... preliminary. In other words, it has not been replicated, and the findings may turn out to be misleading.
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    Children's Hospital & Research Center Oakland scientist and pediatric emergency medicine physician, Claudia Morris, MD says she has identified a syndrome which combines apraxia (a speech disorder) with symptoms often associated with autism. Many of these symptoms are precisely the ones that are pointed to by those whose children appear to benefit from biomedical treatments -- specifically Gluten and Casein-free diets and vitamin supplements.
Tero Toivanen

Why Asperger Syndrome Will Disappear - 5 views

  • The American Psychiatric Association (APA) is now in the process of developing and finalizing the new Diagnostic and Statistical Manual of Mental Disorders (DSM) Version 5.
  • autism spectrum disorders as we know them will change radically, and many people who are now considered to be "autistic" may find themselves with a brand new diagnosis.
  • Unless something changes between now and then, as of 2013, Asperger syndrome will no longer exist as a diagnosis.
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  • A person with present symptoms of Asperger syndrome would fall in the diagnosis of Autism Spectrum Disorder, and we would expect there to be additional specifiers like "without intellectual disability", "with fluent speech", etc., which we believe will better describe the diagnostic picture for such a person than is currently done with the term Asperger Syndrome alone.
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    "Unless something changes between now and then, as of 2013, Asperger syndrome will no longer exist as a diagnosis."
Tero Toivanen

Researchers define uniform method to interpret autism spectrum disorders - 2 views

  • This approach makes it easier to understand both commonalities and differences between ASD and other conditions, such as Attention Deficit Hyperactivity Disorder (ADHD). This approach will make it possible to test predictions about the location of these brain networks, how they function differently in people with ASD and how to use this knowledge to design interventions and compensatory strategies.
  • A recent study of a U.S. metropolitan area estimates that 3.4 of every 1,000 children between 3 and 10 years-old have Autism.
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    Dr. Dorit Ben Shalom recommends a uniform approach to evaluating and confronting the four common problems associated with ASD.
Tero Toivanen

Mutations in 3 Genes Linked to Autism Spectrum Disorders - 1 views

  • Mutations in 3 Genes Linked to Autism Spectrum Disorders : Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine
  • The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature.
  • The genes with mutations identified in the studies – CHD8, SNC2A, and KATNAL2 – were discovered with a new state-of-the-art genomics technology known as exome sequencing, where all protein coding regions of the genome, called the exome, are analyzed.
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  • The researchers say that with further characterization of the genes and sequencing of genes in thousands of families, they will be able to develop novel therapeutics and preventive strategies for autism.
  • The institutions involved in this study sequenced data from more than 500 families (both parents and the affected child), examining the protein-enriched areas of the genome.
  • “When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” said Dr. Buxbaum. “Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected.”
Graeme Wadlow

Shared heritability of attention-deficit/hyperactivity disorder and autism spe... - 0 views

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    SpringerLink - European Child & Adolescent Psychiatry, Volume 19, Number 3
Graeme Wadlow

RECENT DEVELOPMENTS IN NEUROPATHOLOGY OF AUTISM SPECTRUM DISORDERS - 0 views

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    RECENT DEVELOPMENTS IN NEUROPATHOLOGY OF AUTISM SPECTRUM DISORDERS
Graeme Wadlow

A review of neuropsychological and neuroimaging research in autistic spectrum... - 0 views

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    Article in Press A review of neuropsychological and neuroimaging research in autistic spectrum disorders: Attention, inhibition and cognitive flexibilitywww.tara.tcd.ie/bitstream/2262/29986/1/Sanders RASD07.pdf
Graeme Wadlow

Autism Spectrum Disorders - 0 views

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    Autism Spectrum Disorders - GeneReviews - NCBI Bookshelf
Graeme Wadlow

Altered Auditory and Multisensory Temporal Processing in Autism Spectrum Disorders - 0 views

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    Altered Auditory and Multisensory Temporal Processing in Autism Spectrum Disorders
Tero Toivanen

Atypical empathic responses in adolescents with ag...[Biol Psychol. 2009] - PubMed Result - 0 views

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    Atypical empathic responses in adolescents with aggressive conduct disorder: a functional MRI investigation.
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