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Tero Toivanen

Facing Autism in New Brunswick: In Future Will Autism Spectrum Disorders Be Referred To... - 2 views

  • f brain connectivity is the biological problem that gives rise to autism disorders will  effective treatments and cures be developed targeting the connectivity issues?
  • 'People have started to look at autism as a developmental disconnection syndrome - there are either too many connections or too few connections between different parts of the brain,' says Sahin.
  • Sahin hopes that the brain's miswiring can be corrected by drugs targeting the molecular pathways that cause it.
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    If further study results indicate that autism deficits arise from brain connectivity disorders will the autism spectrum disorders come to be known as the Brain Connectivity Disorders?
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

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."
seth kutcher

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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

Autism disorders might be reversible. | - I Teach Autism.com - - 0 views

  • Scientists at Albert Einstein College of Medicine of Yeshiva University have proposed a sweeping new theory of autism that suggests that the brains of people with autism are structurally normal but dysregulated, meaning symptoms of the disorder might be reversible.
  • The central tenet of the theory, published in the March issue of Brain Research Reviews, is that autism is a developmental disorder caused by impaired regulation of the locus coeruleus, a bundle of neurons in the brain stem that processes sensory signals from all areas of the body.
  • The new theory stems from decades of anecdotal observations that some autistic children seem to improve when they have a fever, only to regress when the fever ebbs.
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  • Einstein researchers contend that scientific evidence directly points to the locus coeruleus–noradrenergic (LC-NA) system as being involved in autism. “The LC-NA system is the only brain system involved both in producing fever and controlling behavior,” says co-author Dominick P. Purpura, M.D., dean emeritus and distinguished professor of neuroscience at Einstein.
  • The locus coeruleus has widespread connections to brain regions that process sensory information.
  • It is also involved in a variety of complex behaviors, such as attentional focusing (the ability to concentrate attention on environmental cues relevant to the task in hand, or to switch attention from one task to another).
  • “What is unique about the locus coeruleus is that it activates almost all higher-order brain centers that are involved in complex cognitive tasks,” says Dr. Mehler.
  • Drs. Purpura and Mehler hypothesize that in autism, the LC-NA system is dysregulated by the interplay of environment, genetic, and epigenetic factors (chemical substances both within as well as outside the genome that regulate the expression of genes). They believe that stress plays a central role in dysregulation of the LC-NA system, especially in the latter stages of prenatal development when the fetal brain is particularly vulnerable.
  • Drs. Purpura and Mehler believe that, in autistic children, fever stimulates the LC-NA system, temporarily restoring its normal regulatory function.
  • the future of autism treatment probably lies in drugs that selectively target certain types of noradrenergic brain receptors or, more likely, in epigenetic therapies targeting genes of the LC-NA system.
  • “You can’t take a complex neuropsychiatric disease that has escaped our understanding for 50 years and in one fell swoop have a therapy that is going to reverse it — that’s folly. On the other hand, we now have clues to the neurobiology, the genetics, and the epigenetics of autism. To move forward, we need to invest more money in basic science to look at the genome and the epigenome in a more focused way.”
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    Scientists at Albert Einstein College of Medicine of Yeshiva University have proposed a sweeping new theory of autism that suggests that the brains of people with autism are structurally normal but dysregulated, meaning symptoms of the disorder might be reversible.
Tero Toivanen

Facing Autism in New Brunswick: Autism Taboo: Shhhh! Don't Mention THEM! - 0 views

  • It is now politically incorrect to refer to anyone as mentally retarded. The polite and proper term to use now is intellectually disabled. Either way there is very little mention of the fact that many persons with Autism Spectrum Disorder diagnoses are severely intellectually challenged. In the world's autism communities there are many who perceive it as an insult to mention the existence of the intellectually disabled autistic population.
  • some well known autism researchers work hard at showing the world how intelligent autistic persons really are, even those who cannot demonstrate that intelligence with any obvious ability to communicate or function in the real world.
  • The mere mention of the existence of low functioning autistic persons with serious intellectual challenges is forbidden.
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  • The exclusion by autism self advocates of the intellectually disabled autistic population occurs despite the fact that many persons with Autistic Disorder are intellectually disabled. The ICD-10 mentions this fact expressly in its description of Autistic Disorder:
  • Autistic Disorder...In addition to these specific diagnostic features, it is frequent for children with autism to show a range of other nonspecific problems such as fear/phobias, sleeping and eating disturbances, temper tantrums, and aggression. Self-injury (e.g. by wrist-biting) is fairly common, especially when there is associated severe mental retardation.
  • All levels of IQ can occur in association with autism, but there is significant mental retardation in some three-quarters of cases.
  • There are more than 200 known causes of intellectual disability. Some common examples of intellectual disability are: Down syndrome Autism
  • The attempt by higher functioning persons with ASD's and Aspergers to disassociate "autism" from intellectual disability helps stigmatize persons with intellectual disabilities including the many persons with autistic disorder and intellectual disabilities.
  • And some ND's, to counter the fact that most with LFA are retarded, some "famous" autistics like to promote FC as "proof" that they aren't.
  • My cousin is profoundly autistic. He is around 20 and cannot communicate at all, not verbally or in the written word, and has never said a word. Luckily, his family is smart enough to know that if anyone tries use FC on him they will know it is a scam.If a facilitator told my aunt that P was writing poems and understood Shakespeare she would just laugh. She loves P as he is; she knows reality and doesn't try to force him to be someone he isn't.
  • The current Wikipedia article still shows a frequency of 25-70% incidence of mental retardation in people with autism.
  • Yet, the reader is drawn to see not the high percentage (25% is still very high) but the width of the range, therefore there must be something wrong with the ability of standard tests to measure "autistic intelligence".
  • Mentally retarded IMO comes from the intelligence scales. These do not address the learning styles of all people and are inflexible. I do believe there are better ways to understand how someone learns. I also don't believe there are limits on what we learn, the brain's placisity allows us to learn our entire life.
  • I've spoken hundreds of parents and it worries me that so many have problems accepting their children as they are and will be.For some intelligence is the magic word, a kind of hidden cure inside their child.But autistic kids with a normal IQ which they can use function better than those with high IQ's they can't use.
  • I am only concerned about the cases where the FC person NEVER does ANY kind of independent work, which seem to be the majority of FC cases.
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    It is now politically incorrect to refer to anyone as mentally retarded. The polite and proper term to use now is intellectually disabled. Either way there is very little mention of the fact that many persons with Autism Spectrum Disorder diagnoses are severely intellectually challenged. In the world's autism communities there are many who perceive it as an insult to mention the existence of the intellectually disabled autistic population.
Tero Toivanen

Auditory Integration Training and Facilitated Communication for Autism -- Committee on ... - 0 views

  • For example, Smith et al16 studied 10 individuals with autism specifically to investigate the effects of facilitator influence and level of assistance on the results of FC. Each subject had six sessions, two with no help, two with partial assistance, and two with full assistance. Results showed that there were no cases of correct responses from the subject unless the facilitator knew the correct response. In addition, numerous responses were typed by the subjects to stimuli that were shown only to the facilitator, and not the subject. Similar results have been found by Regal et al17 and Eberlin et al.1
  • One complication of the use of FC has been the allegation of abuse, particularly sexual abuse, that has been obtained from individuals through the use of FC against third persons. This has generated adverse publicity and caused severely negative consequences for families who may be unsure of the validity of the allegations. Because of legal mandates regarding reports of child abuse, this becomes a critical issue for teachers and pediatricians alike, who may find the credibility of the report highly questionable but are obligated to fulfill their legal responsibilities. Margolin20 notes that although more than 50 such allegations have resulted in legal proceedings, most have terminated before trial. The ethical dilemmas posed by FC for practitioners have been reviewed by Jacobson et al.8
  • It is important for the pediatrician to obtain current data on both AIT and FC as they become available. Until further information is available, the use of these treatments does not appear warranted at this time, except within research protocols.
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    This statement reviews the basis for two new therapies for autism---auditory integration training and facilitative communication. Both therapies seek to improve communication skills. Currently available information does not support the claims of proponents that these treatments are efficacious. Their use does not appear warranted at this time, except within research protocols.
Tero Toivanen

Facing Autism in New Brunswick: Autism Diagnoses: DSM V Should Separate Autistic Disord... - 0 views

  • This inclusion of substantially different disorders, with wildly different challenges, in one "spectrum" of disorders implies that the very serious challenges of persons with Autistic Disorder who lack a fundamental understanding of the world, who have very limited abstract thought and who have very little in the way of communication skills are somehow fundamentally similar to persons with good to excellent facilities in all these crucial areas of life.
  • Research is resulting in more and more people describing autism in the plural as autism disorders with different causes and different possible treatments.
  • It is time for the DSM to get realistic about the Autism "Spectrum".
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  • It is time to merge High Functioning autism disorders with Aspergers Disorder and separate them from Autistic Disorder.
  • It is time for the DSM to recognize the importance of levels of ability to function in and understand the world and to reflect those levels in their classification of development disorders.
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    It is time to merge High Functioning autism disorders with Aspergers Disorder and separate them from Autistic Disorder.
Tero Toivanen

Asperger Syndrome Tied to Low Cortisol Levels - 0 views

  • Low levels of a stress hormone may be responsible for the obsession with routine and dislike for new experiences common in children with a certain type of autism.
  • The body produces cortisol, among other hormones, in stressful situations. Cortisol increases blood pressure and blood sugar levels, among other duties, to signal the body's need to adapt to changes occurring around it.
  • People with Asperger syndrome notably have very repetitive or narrow patterns of thought and behavior, such as being obsessed with either a single object or topic. Though tending to become experts in this limited domain, they have otherwise very limited social skills, according to the study.
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  • "Although these are early days, we think this difference in stress hormone levels could be really significant in explaining why children with AS are less able to react and cope with unexpected change,"
  • If these Asperger symptoms are caused primarily by stress, caregivers could learn to steer children away from situations that would add to anxiety, the researchers said.
  • "This study suggests that children with AS may not adjust normally to the challenge of a new environment on waking,"
  • The researchers, whose findings were published in the journal Psychoneuroendocrinology, will next study if this lack of cortisol upon waking also occurs in children with other types of autism.
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    Low levels of a stress hormone may be responsible for the obsession with routine and dislike for new experiences common in children with a certain type of autism.
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

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

Autism and early oxygen deprivation 2 | On the Brain by Dr. Mike Merzenich,Ph.D. - 0 views

  • Fraternal twins typically have different placentas, whereas identical twins share a placenta but have different cords. The blood supply, and pre-clamping susceptibility to anoxia, would surely be different.
  • As for the idea that one could statistically detect whether cord clamping is the problem, we can! Amish people do not clamp the cord until placental delivery, and they have no autism rate. The same is true in Somalia, but Somalian immigrants to westernized medical countries have high rates. Try to systematically find out autism rates and immediate cord clamping rates, on a country by country, or region by region basis. It is a task someone should get on immediately, but it will take a lot of effort.
  • An interesting discussion of the “Amish anomaly” re autism incidence has been provided by Dan Olmsted, who went to Amish Country to find the 150 or so individuals there who could be expected to be severely autistic. They aren’t there. He seems pre-disposed to believe that the difference lies with their non-vaccination. Many studies now show that this is unlikely. As David Blake points out, there is another difference in this population: In Amish birthing, by tradition, the cord is not clamped prior to placenta delivery.
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  • The picture with autism in Somali children is a little murkier. It turns out that the incidence of autism is very high in children of Somali origin who were born in the US (several times higher than normal), while it appears to be very low in Somali children born in their native country. Again, vaccination has been identified as the likely cause by Somali parents and by many observers — but again, clamping follows placental delivery in Somalia, while the cord has been clamped without delay as a general practice in Minnesota, where a high incidence of autism in these children of Somali immigrants was first discovered.
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    Comment about the hypothesis that early umbilical cord clamping might contribute to the risk of origin of autism.
Tero Toivanen

BBC NEWS | Health | Genes 'have key role in autism' - 0 views

  • The changes influence genes which help form and maintain connections between brain cells.
  • The Nature study highlighted one common genetic variant which, if corrected would cut cases of autism by 15%.
  • Previously, other genetic variants have been linked to autism, but they are all relatively rare.
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  • It found several genetic variants commonly associated with ASD, all of them pointing two specific genes found on chromosome 5 which control production of proteins which help cells stick to each other, and make nervous connections.
  • One variant, linked to a gene called CDH10, was so common - present in over 65% of cases of autism - that the researchers calculated that fixing it would cut the number of autism cases by 15%.
  • They also linked ASD rather less strongly to a group of about 30 genes which produce proteins that play a key role in enabling brain cells to migrate to correct places, and to connect to neighbouring cells.
  • Professor Simon Baron-Cohen, an autism expert at the University of Cambridge, said 133 genes had now been linked to the condition, and much work was needed to piece together how they interacted with each other and the environment.
  • The National Autistic Society said the exact causes of autism were unknown. In a statement, the society said: "There is evidence to suggest that genetic factors are responsible for some forms of autism. "However, the difficulty of establishing gene involvement is compounded by the interaction of genes and by their interaction with environmental factors. "Various studies over many years have sought to identify candidate genes but so far inconclusively."
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    Scientists have produced the most compelling evidence to date that genetics play a key role in autism.
Tero Toivanen

Autism Vaccines - Mercury and Autism Vaccines - 1 views

  • The type of mercury used in thimerosal is generally cleared from the body within six weeks, which in theory would render it harmless. But according to those researchers who believe that the preservative causes autism, babies born during that 20-year window were injected with many times the "safe" level as determined by the FDA -- and some, they feel, were genetically incapable of clearing the doses of mercury from their bodies. Mercury is, in fact, a neurotoxin, and the theory is that the recent leap in autism diagnoses can be directly tied to thimerosal.
  • In 2004, the Institute of Medicine undertook a comprehensive review of all the published literature on thimerosal and autism and concluded that the available evidence demonstrate that there was no link. The CDC launched a series of studies that examined the relationship between the incidence of autism and the amount of mercury a child received in the first 6 months of life and also found no relationship. Although all published credible studies have found no link between thimerosal and autism, some continue to be unconvinced.
  • At present, the thimerosal controversy continues, even though the removal of thimerosal from vaccines has not resulted in lower rates of autism diagnoses.
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    At present, the thimerosal controversy continues, even though the removal of thimerosal from vaccines has not resulted in lower rates of autism diagnoses. Parents who continue to be concerned should be aware that thimerosal has now been removed from most vaccines -- and thimerosal-free vaccines are available across the board.
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

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.
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