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Tero Toivanen

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.
Tero Toivanen

Autism Research Blog: Translating Autism: Vision problems in autism: Reduced convergence? - 0 views

www.translatingautism.com/...roblems-in-autism-reduced.html

autism vision problems reduced convergence

shared by Tero Toivanen on 06 Mar 09 - No Cached
  • The authors found that 11% of the typically developing children and 31% of the ASD had a documented visual impairment (myopia, astigmatism, etc). This difference was statistically significant. That is, children with ASD were significantly more likely than typically developing children to have these conditions. Children with autism also displayed significantly poorer visual acuity (but within normal limits), and lower convergence. Convergence refers to the process by which the eyes move towards each other to maintain focus on approaching or close-range objects.
  • The findings of reduced visual acuity in children with autism when compared to typically developing children contradict previous studies that have shown enhanced visual acuity in autism. This brings us to a major limitation of this study that was correctly noted by the authors.
  • Limited convergence therefore would be associated with more limited depth perception. I find this intriguing because the neuropsychological profile of children with high functioning autism is often very similar to what is observed in kids with non-verbal learning disabilities (including relative weaknesses in motor-visual functioning). In addition, many parents with children with ASD report that their kids have trouble with sports and other physical activities. I thus wonder how much the reduced convergence observed in ASD may affect the motor-visual functioning in autism.
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  • Clinically, I was also intrigued by the high rates of vision problems found among the ASD group. Although, as I mentioned, this may be due to a self-selection of the parents who agreed to participate, this is consistent with data suggesting that children with developmental disorders are more likely to have visual problems than typically developing children
  • Tero Toivanen on 06 Mar 09
     
    Analysis of visual functioning in children with autism suggests impairment in visual convergence. A brief review of: Elizabeth Milne, Helen Griffiths, David Buckley, Alison Scope (2009). Vision in Children and Adolescents with Autistic Spectrum Disorder: Evidence for Reduced Convergence Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-009-0705-8
Tero Toivanen

A week ago, a new study published in the Archives of General - 0 views

www.theautismnewswire.com/NewsITems.aspx

study autism research gene mutation ASD sporadic spectrum disorders de novo spontaneous mutations intellectual disability epilepsy

shared by Tero Toivanen on 22 May 11 - No Cached
  • 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.
  • Tero Toivanen on 22 May 11
     
    "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."
Patti Porto

www.medtechfortots.com - Home - 0 views

medtechfortots.weebly.com

preschool asd autism video

shared by Patti Porto on 17 Jun 13 - No Cached
  • Patti Porto on 17 Jun 13
     
    Student project "This website has been created for parents or children who do not know anything (or want to learn more) about tools and machines at a pediatrician's office. This lack of knowledge may lead children to fear the pediatrician's office. Hopefully, when they view this website, their fear will go away."
Graeme Wadlow

Parental stress associated with caring for children with Asperger's syndrome or autism - 0 views

* http//www.ingentaconnect.com/content/bsc/ped/2009/00000051/00000003/art00009

RP2 autm IngentaConnect parents stress Autism ASD Asperger Syndrome

shared by Graeme Wadlow on 04 Jan 12 - No Cached
  • Graeme Wadlow on 04 Jan 12
     
    IngentaConnect Pediatrics International
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