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Tero Toivanen

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

  • Causes There's no known cause of childhood disintegrative disorder, also known as Heller's syndrome. Most experts agree that there's likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child's brain development.
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    Causes There's no known cause of childhood disintegrative disorder, also known as Heller's syndrome. Most experts agree that there's likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child's brain development.
Tero Toivanen

Autism Research Blog: Translating Autism: Sensory sensitivity as early sign of autism: ... - 0 views

  • When compared to children with non-ASD developmental delays, children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity.
  • in this study the authors wanted to determine whether sensory abnormalities would differentiate between children with ASD and children with other developmental conditions.
  • When compared to the children with non-ASD developmental delays, the children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity. The authors did not find differences between the two groups in visual or auditory over-sensitivity.
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  • results provide indirect support for the common clinical practice of considering signs of sensory sensitivities as one factor when determining whether a child has an ASD, a developmental delay, or a language delay.
  • early sensory sensitivity should be one of the factors examined by pediatricians during healthy baby checkups.
  • results do not tell us whether the levels of sensory anomalies observed in the non-ASD group are higher than what is expected among typically developing children.
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    When compared to children with non-ASD developmental delays, children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity.
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.
J B

Intensive Interaction - 6 views

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    Intensive interaction is an approach to teaching the pre-speech fundamentals of communication to children and adults who have severe learning difficulties and/or autism and who are still at an early stage of communication development.
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

Autistic Aphorisms: Enhanced Perception in Savant Syndrome - 0 views

  • Mottron team did not shy away from suggesting that the features of savant syndrome could serve as an entryway into understanding all forms of autistic perception and cognition, savant like or not. This effectively removed savant syndrome from being the freak sideshow of autism and elevated it to the status of being a key element for understanding the condition.
  • it is orientation towards structure and pattern that determines the essential characteristics of autistic perception and cognition.
  • Not weak central coherence. Not damaged executive functioning. Not a missing theory of mind. Not a masculinized brain. Orientation to pattern and structure is the key to understanding autistic perception—an approach that is productive towards autistic interests and abilities, not destructive, as is the case for nearly every other competing theory. The Mottron team's emphasis on pattern-oriented perception in autistic individuals is a helpful step forward in understanding autistic individuals as they truly are.
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  • all the success stories related inside the pages of EPSS are accompanied by fortuitous exposure to various forms of structured material, clearly marking out the most promising path for autistic development and growth.
  • And of course these discussions fly in the face of the current clamor for early intervention in autism, where it would seem the goal is always to yank the autistic child away as early as possible from his or her preferred method of engaging the world, and substitute instead an intense bombardment of socially based indoctrination, hoping to turn the child around while there is still time for the “malleable” brain to be re-molded.
  • In my opinion, it is no mere coincidence that the very same elements that stand at the core of the Mottron team's affirmative description of autistic perception and cognition are also the very same elements that stand at the core of humanity’s sudden departure off the savannah and leap into the modern world.
  • Admittedly, a thorough discussion of such a topic would be much too large for inclusion in an academic research paper such as EPSS, but the fact that the Mottron team does not mention, or even hint at, the connection between the features of autistic perception and the features of human cognitive history leave it unclear whether the team has ever considered such a connection.
  • At this point in time, the Mottron team seems to be the only autism research team heading in a positive and enlightening direction—a direction that is constructive for autistic individuals everywhere—and I look forward to all their future contributions.
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

Yale Study Suggests Children with Autism Watch for the Wrong Visual Clues - 0 views

  • Individuals with autism spectrum disorders (ASD) tend to stare at people's mouths rather than their eyes. Now, an NIH-funded study in 2-year-olds with the social deficit disorder suggests why they might find mouths so attractive: lip-sync—the exact match of lip motion and speech sound.
  • Such audiovisual synchrony preoccupied toddlers who have autism, while their unaffected peers focused on socially meaningful movements of the human body, such as gestures and facial expressions.
  • "Typically developing children pay special attention to human movement from very early in life, within days of being born. But in children with autism, even as old as two years, we saw no evidence of this," explained Ami Klin, Ph.D., of the Yale Child Study Center, who led the research. "Toddlers with autism are missing rich social information imparted by these cues, and this is likely to adversely affect the course of their development."
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  • In theory, this finding could lead to educational techniques that could help very young children with autism build their social referencing skills. This could be hugely important for children with autism, since their challenges with "reading" social cues create so many problems as they enter school, interact with peers, and begin to navigate social relationships.
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    Individuals with autism spectrum disorders (ASD) tend to stare at people's mouths rather than their eyes. Now, an NIH-funded study in 2-year-olds with the social deficit disorder suggests why they might find mouths so attractive: lip-sync-the exact match of lip motion and speech sound.
Tero Toivanen

NIMH · Our brains are made of the same stuff, despite DNA differences - 1 views

  • “Having at our fingertips detailed information about when and where specific gene products are expressed in the brain brings new hope for understanding how this process can go awry in schizophrenia, autism and other brain disorders,” said NIMH Director Thomas R. Insel, M.D.
  • Among key findings in the prefrontal cortex:Individual genetic variations are profoundly linked to expression patterns. The most similarity across individuals is detected early in development and again as we approach the end of life.Different types of related genes are expressed during prenatal development, infancy, and childhood, so that each of these stages shows a relatively distinct transcriptional identity. Three-fourths of genes reverse their direction of expression after birth, with most switching from on to off.Expression of genes involved in cell division declines prenatally and in infancy, while expression of genes important for making synapses, or connections between brain cells, increases. In contrast, genes required for neuronal projections decline after birth – likely as unused connections are pruned.By the time we reach our 50s, overall gene expression begins to increase, mirroring the sharp reversal of fetal expression changes that occur in infancy.Genetic variation in the genome as a whole showed no effect on variation in the transcriptome as a whole, despite how genetically distant individuals might be. Hence, human cortexes have a consistent molecular architecture, despite our diversity.
  • Among key findings:Over 90 percent of the genes expressed in the brain are differentially regulated across brain regions and/or over developmental time periods. There are also widespread differences across region and time periods in the combination of a gene’s exons that are expressed.Timing and location are far more influential in regulating gene expression than gender, ethnicity or individual variation.Among 29 modules of co-expressed genes identified, each had distinct expression patterns and represented different biological processes. Genetic variation in some of the most well-connected genes in these modules, called hub genes, has previously been linked to mental disorders, including schizophrenia and depression.Telltale similarities in expression profiles with genes previously implicated in schizophrenia and autism are providing leads to discovery of other genes potentially involved in those disorders.Sex differences in the risk for certain mental disorders may be traceable to transcriptional mechanisms. More than three-fourths of 159 genes expressed differentially between the sexes were male-biased, most prenatally. Some genes found to have such sex-biased expression had previously been associated with disorders that affect males more than females, such as schizophrenia, Williams syndrome, and autism.
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  • Our brains are all made of the same stuff. Despite individual and ethnic genetic diversity, our prefrontal cortex shows a consistent molecular architecture.
  • Males show more sex-biased gene expression. More genes differentially expressed (DEX) between the sexes were found in males than females, especially prenatally. Some genes found to have such sex-biased expression had previously been associated with disorders that affect males more than females, such as schizophrenia, Williams syndrome, and autism.
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    Our brains are all made of the same stuff. Despite individual and ethnic genetic diversity, our prefrontal cortex shows a consistent molecular architecture. 
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

Developmental regression in children with an autism spectrum disorder identified by a p... - 0 views

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    These data indicate that some children with ASD experience a loss of skills in the first few years of life and may have a unique symptom profile.
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