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Genes implicated in twins' autism | The Autism News - 1 views

www.theautismnews.com/...nes-implicated-in-twins-autism autism genetics genes twins research diagnoses environment
shared by Tero Toivanen on 05 Jan 10 - Cached
  • 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
  • Tero Toivanen on 05 Jan 10
     
    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.
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New Year, New Decade Resolutions for the Autism Community - 0 views

autism.about.com/...s-for-the-autism-community.htm autism research diagnosis subgroups treatment therapy
shared by Tero Toivanen on 01 Jan 10 - Cached
  • parents leaving their offices with an autism spectrum diagnosis for their child will have a clear plan of action for getting their child the help they need, where and when they need it.
  • Researchers will develop a better understanding of autistic subgroups, so that it will become possible to recommend appropriate treatments and therapies based on individuals' symptoms, challenges and strengths.
  • Less time, money, energy and angst will go into confrontation, and more time, money, energy and love will go into autism-related volunteerism, mentoring, program development, and other positive activities.
  • Tero Toivanen on 01 Jan 10
     
    Less time, money, energy and angst will go into confrontation, and more time, money, energy and love will go into autism-related volunteerism, mentoring, program development, and other positive activities.
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Non-Verbal Autistics: Why No Words? - 1 views

autism.about.com/...bal-autistics-why-no-words.htm autism non-verbal autistics Lisa Jo Rudy speak words apraxia echolalia
shared by Tero Toivanen on 10 May 10 - Cached
  • To be honest, I had assumed that those people who do not speak - but DO communicate - have physical issues with forming words.  After all, I reasoned, if a person wants to communicate but doesn't speak, it must be because speech is just too difficult. But it turns out that I may be wrong.  In fact, according to a top researcher in autism and communication (Dr. Helen Tager-Flusberg, PhD of Boston University), "...the short answer is that we really don't know why some children with ASD don't learn to speak at all."
    • Tero Toivanen
      Tero Toivanen on 10 May 10
       
      This is the big question!
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Autism Information - Autism Information You Need To Know - 1 views

autism.about.com/...formation-You-Need-To-Know.htm autism information you spectrum disorders research facts disorder causes diagnosis diagnoses treatment special education special needs SPED
shared by Tero Toivanen on 16 Mar 11 - No Cached
  • 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).
  • Tero Toivanen on 16 Mar 11
     
    Important facts and information about autism.
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NeuroLogica Blog » The Genetics of Autism - 0 views

www.theness.com/neurologicablog autism genetics
shared by Tero Toivanen on 03 May 09 - Cached
  • What this means is that there is likely to be a complex set of many factors that contribute to ASD - not one single cause.
  • The same exact situation is true for other entities, like schizophrenia and attention deficit disorder (ADD).
  • One difference, however, is that schizophrenia and ADD likely represent changes to particular parts of the brain, while autism is likely due to changes in the global architecture of the brain.
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  • Getting back to the genetics of autism, current models are therefore consistent with what is being found when the genetics of autism is researched - researchers are finding many genes that predispose to autism in a subset of cases but no single or simple universal cause. At present, 133 different gene variants have been linked to autism.
  • This new research, conducted by Dr. Hakon Hakonarson of the Children’s Hospital of Philadelphia, is a genome wide analysis involving about 10,000 individuals.
  • The results are especially significant because the variants lie between two genes, called CDH9 and CDH10, which are known to play an important role in forming nerve connections in the brain.
  • The gene variants that correlated with ASD are for proteins that are involved in the process of neurons forming connections with each other. There is already other lines of evidence that suggest what is different in ASD brains is a decrease in the amount of interconnectedness and communication among neurons. It is therefore likely no coincidence that this study found genetic correlations for proteins involved with neuronal connections.
  • This also is compatible with the finding that many separate genes are potentially involved with ASD - for there are many separate genes and processes involved with forming and maintaining neuronal connections.
  • Tero Toivanen on 03 May 09
     
    A new genome-wide analysis of families with autism has found significant gene associations, adding to the growing evidence for strong genetic contribution to autism.
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What Do New Genetic Findings Mean to Families with Autism? - 0 views

autism.about.com/...an-to-families-with-autism.htm autism genetics research
shared by Tero Toivanen on 02 May 09 - Cached
  • reply from lead researcher Hakon Hakonarson:
  • The variant we detected at the 5p14 locus (common variant) has been present for a long time in the genome (most likely since man moved out of Africa) and this region is highly conserved between species which means that it is regulating gene expression and gene function (the CHD10 gene being the most critical one).
  • We know that the association is strongest in those individual who have the greatest abnormalities in social skills/interactions and those that show least interest in interactions; we have not detected any other characteristics yet, but we keep working on it.
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  • Once we learn about this difference, we can then look for medications that block the consequences of the variant and once we make sure they are safe, we can then start testing these new medications in children who are at risk of developing autism, with the objective of preventing autism (i.e., avoid breakdown in connections between nerves and abnormality in brain connectivity).
  • Response: Yes, all of them could be tested in utero; we have identified 10 new variations (9 rare and 1 common) and we have replicated (and confired) four other once that were previously published (neurexin 1, contactin 4, 15q11 and 22q11). However, we do not have a yes or no answer as to whether the fetus will be autistic -- but if we are testing a fetus in an autistic family the value of the test is much higher.
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Pivotal Response Intervention: Introduction - 0 views

www.autismnetwork.org/...index.html pivotal Pivotal Response Intervention PRI PRT intervention
shared by Tero Toivanen on 27 Mar 09 - Cached
  • Current research into strategies for children with ASD indicates that the most efficient and effective interventions for these children include the following characteristics: (a) attention to student motivation, (b) teaching the student to respond to a variety of cues, (c) self-instruction procedures, and (d) teaching the student to learn through initiating to others (Koegel et al., 2001). These are known as pivotal areas of instruction for individuals with ASD and make up an approach called Pivotal Response Intervention (PRI).
  • Tero Toivanen on 27 Mar 09
     
    Pivotal Response Intervention: Introduction
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Autism and early oxygen deprivation 2 | On the Brain by Dr. Mike Merzenich,Ph.D. - 0 views

merzenich.positscience.com/?p=248 autism oxygen deprivation placenta Amish Somalia umbilical cord
shared by Tero Toivanen on 25 Jun 09 - Cached
  • 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.
  • Tero Toivanen on 25 Jun 09
     
    Comment about the hypothesis that early umbilical cord clamping might contribute to the risk of origin of autism.
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The link between autism and extraordinary ability | Genius locus | The Economist - 0 views

www.economist.com/...displaystory.cfm autism savant extraordinary ability
shared by Tero Toivanen on 24 Apr 09 - Cached
  • A study published this week by Patricia Howlin of King’s College, London, reinforces this point. It suggests that as many as 30% of autistic people have some sort of savant-like capability in areas such as calculation or music.
  • Francesca Happé of King’s College, London, is one of them. As she observes, obsessional interests and repetitive behaviours would allow someone to practice, albeit inadvertently, whichever skill they were obsessed by. Malcolm Gladwell, in a book called “Outliers” which collated research done on outstanding people, suggested that anyone could become an expert in anything by practising for 10,000 hours. It would not be hard for an autistic individual to clock up that level of practice for the sort of skills, such as mathematical puzzles, that many neurotypicals would rapidly give up on.
  • Simon Baron-Cohen, a doyen of the field who works at Cambridge University, draws similar conclusions. He suggests the secret of becoming a savant is “hyper-systematising and hyper-attention to detail”. But he adds sensory hypersensitivity to the list. His team have shown one example of this using what is known as the Freiburg visual acuity and contrast test, which asks people to identify the gap in a letter “c” presented in four different orientations. Those on the autistic spectrum do significantly better at this than do neurotypicals. That might help explain Dr Happé’s observations about coins and raindrops.
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  • The upshot of these differences is that the columns in an autistic brain seem to be more connected than normal with their close neighbours, and less connected with their distant ones. Though it is an interpretative stretch, that pattern of connection might reduce a person’s ability to generalise (since disparate data are less easily integrated) and increase his ability to concentrate (by drawing together similar inputs).
  • Dr Snyder argues that savant skills are latent in everyone, but that access to them is inhibited in non-savants by other neurological processes. He is able to remove this inhibition using a technique called repetitive transcranial magnetic stimulation.
  • Tero Toivanen on 24 Apr 09
     
    A study published this week by Patricia Howlin of King's College, London, reinforces this point. It suggests that as many as 30% of autistic people have some sort of savant-like capability in areas such as calculation or music. Moreover, it is widely acknowledged that some of the symptoms associated with autism, including poor communication skills and an obsession with detail, are also exhibited by many creative types, particularly in the fields of science, engineering, music, drawing and painting.

Tapping into Multiple Intelligences - 0 views

started by Carrie Wible on 31 Oct 14 no follow-up yet
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New Study: Autism has Multiple Genetic Roots | Suite101 - 3 views

suite101.com/...multiple-genetic-roots-a246721 autism research study
shared by Tero Toivanen on 10 Nov 12 - No Cached
  • 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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