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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."
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

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

Dr Peter White, senior author, molecular geneticist and dire - 1 views

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    Autism research identifies common factors in gene alterations
Tero Toivanen

NeuroLogica Blog » Hyperbaric Oxygen for Autism - 0 views

  • This includes autism - there are no compelling studies showing any benefit from hyperbaric oxygen therapy in autism. The few studies that do exist are uncontrolled, which means they are mostly worthless.
  • Some have pointed out that the study leader, Daniel Rossignol, has a potential conflict of interest in that he offers hyperbaric oxygen therapy in his practice.
  • Everyone agrees, even Rossignol, that this study will not end the controversy over hyperbaric oxygen in autism. It needs to be replicated.
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  • Another weakness of the study is that it was short term, only four weeks. It therefore did not test if the effect of hyperbaric treatment survives much beyond the treatment itself. Even if the effect in this study is real, it may represent only a temporary symptomatic benefit - not altering the course of autism itself. Therefore longer followup studies are needed as well.
  • It is not impossible that hyperbaric oxygen may have some benefit in some children with autism.
  • The biggest risk of the treatment now is that it is expensive - costing 150-900 dollars per treatment or 14-17 thousand dollars for a chamber.
  • But one thing is clear - any future studies should be very tightly controlled, or they will be counterproductive.
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    Critics about the new study about the effectiveness of hyperbaric oxygen therapy in 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

Why parents swear by ineffective treatments for autism. - By Sydney Spiesel - Slate Mag... - 0 views

  • Since most of the ways we diagnose autism are based on behavior, we can't rely on biological, structural, or chemical findings to determine if a treatment is working. We primarily measure success based on a patient's change, or lack thereof, in behavior.
  • The behavioral changes produced by the few effective treatments make life in social settings (including the home) possible, but we have no idea whether they have any effect on the underlying cause (or causes) of autism or whether they even make severely affected patients feel better.
  • One method intended to help, "facilitated communication," is based on the idea that a sensitive facilitator will hold the hand of a patient over a kind of Ouija board. She will then help the patient respond to questions by sensing his intention and helping guide his hand to spell out answers. Rigorous studies have shown that the spelled-out answers come from the unconscious (or, worse, the conscious) mind of the facilitator. Nonetheless, the practice is still in use, and I know parents who are utterly convinced that it is valid and useful. Frankly, something important did happen when facilitated communication was introduced to my patients: They improved, they brightened, they became more social and more interactive, and they seemed, somehow, happier, even though facilitated communication didn't actually translate their thoughts into words. I'll come back to "why" in a minute.
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  • The techniques of sensory integrative treatment include rubbing or brushing skin (using graded and tactile stimulation), balance exercises, exposure to soft music, and the use of weighted clothes, among other things. Does it work? Most of the research has been of very poor quality, but, in virtually all of the recent studies, sensory integration doesn't seem to be any more beneficial than any other treatment.
  • It looks as if environmental alteration, especially if coupled with increased attention and perhaps expectation, often leads to change in human behavior. It's called the "Hawthorne effect."
  • People respond—mostly favorably—to positive attention and interaction. The question we need to ask about all the treatments available for autism is whether they actively shape and change brain development and thus treat the underlying condition, as many proponents believe, or whether the benefits (if they are present at all) are simply another example of the Hawthorne effect.
  • Perhaps my patients who became more alive and more interactive after facilitated communication was introduced changed because their families and caretakers were taking them more seriously as people who might have an inner life—people worthy of attention and interaction.
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    People respond-mostly favorably-to positive attention and interaction. The question we need to ask about all the treatments available for autism is whether they actively shape and change brain development and thus treat the underlying condition, as many proponents believe, or whether the benefits (if they are present at all) are simply another example of the Hawthorne effect.
Tero Toivanen

Harvey Karp: Cracking the Autism Riddle: Toxic Chemicals, A Serious Suspect in the Auti... - 0 views

  • One group of substances of particular concern is a ubiquitous family of hormone twisting compounds, known as endocrine disrupting chemicals (EDCs).
  • Our exposure to EDCs is no mere theoretical concern. In 2000, a Centers for Disease Control (CDC) study found detectable phthalates in 99.9% of adults including women of childbearing age.
  • there is evidence that even minuscule amounts of these chemicals -- levels commonly present in a woman's body -- may disturb fetal brain development during highly sensitive periods of neural development known as windows of vulnerability.
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  • Our increasing exposure to EDCs lends support to a new hypothesis about the cause of autism, called the "extreme male theory." This theory, proposed by Dr. Simon Baron-Cohen and colleagues, speculates that autism is caused by something changing a fetus' hormonal balance that then leads to over-masculinization of the developing brain. Could that "something" be the slurry of hormone-altering chemicals we're exposed to every day? Are EDCs the reason autism-type disorders are 4-9 times more common in boys? (Vaccine side effects never show such lopsided impact on boys versus girls...a glaring fact that is totally ignored by those promoting the vaccine theory of autism.)
  • Here is where the very interesting link to EDCs comes into play: EDCs often act as weak estrogens and estrogen feminizines the body, but in a fetus' developing brain estrogen actually has the opposite effect...it causes masculinization.
  • The NCS will establish over one hundred study centers across the US to test the blood of 100,000 newborns for scores of synthetic chemicals, including many EDCs. (Workers have already begun going door-to-door enrolling pregnant moms into the program.) For the next 21 years, scientists will carefully follow the children's health, comparing the body burden of chemicals at birth to diseases developed later in life.
  • Within 3-4 years, we expect to have enough data accumulated to start detecting what chemicals might be linked to autism.
  • Beside the NCS, I support other new studies to look at: 1) the autism risk in vaccinated vs. unvaccinated kids; 2) the metabolism of vaccine ingredients (like aluminum, added to make shots work better), 3) more accurate determinations of the true incidence of autism.
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    The presence of EDCs in women of child-bearing age is especially worrisome. That is because there is evidence that even minuscule amounts of these chemicals -- levels commonly present in a woman's body -- may disturb fetal brain development during highly sensitive periods of neural development known as windows of vulnerability.
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

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.
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