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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

Journal of Neuropsychiatric Disease and Treatment - Dove Press - 0 views

  • These results suggest that nonverbal children have specifically impaired imitation and pointing skills.
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    This study evaluates the correlation between failure to develop spontaneous imitation and language skills in pervasive developmental disorders.
Tero Toivanen

Interview with Robert Koegel | Pivotal Response Treatments for Autism Author on ABC's S... - 1 views

  • The NLP became synonymous with motivation and motivation is pivotal in teaching children with autism to respond to multiple questions.
  • 1988 was the first time the word pivotal was used to describe this method. It was referred to previously as the NLP. It is considered a behavior intervention with similarities to the Lovaas method/ABA. 
  • Why would you say PRT is more effective than other therapies
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  • First and foremost, children think of it as fun and learn skills by doing what they enjoy.
  • PRT is effective in all of the child’s environments and versatile enough to use at home, in clinical settings, in an inclusive classroom, and in the community, and parents can easily start folding PRT strategies into the child's established routine right away.
  • How does PRT decrease stress for parents?
  • Children often hate having to perform drill practices involved with other autism treatments, they feel like they are being forced to do something they don't enjoy and they react to this by causing a scene to get out of treatment.
  • What exactly are "pivotal responses?"
  • "areas that are central to wide areas of functioning such that improvements occur across a large number of behaviors." 
    • Tero Toivanen
       
      Pivotal responses määrittely!!!
  • Once they understand the connection between using their own words and getting something they want, they will start to use words spontaneously to communicate their needs. Mastering this one pivotal behavior, motivating the child to understand the connection between their own efforts to communicate with the outcomes of their efforts, will have an enormous ripple effect on other skills.
    • Tero Toivanen
       
      In practice.
  • It works because there is a motivator that makes the child want to work to accomplish the task at hand, the reward for accomplishing the task has a direct connection to it.
  • PRT was named by the National Research Council of the National Academy of Sciences in 2001 as one of the top 10 state-of-the-art treatments for autism in the United States.
  • A child who is highly motivated to communicate and is having fun doing it will learn much more rapidly than a child who is not motivated and not enjoying what they are learning.
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

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.
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