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Tero Toivanen

Patrick Ecker: AAC - 2 views

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    This site is intended to be an active community for sharing graphics, pictures, and visual supports for children with disabilities. Parents, professionals, and others can share their ideas and help children learn to use language and communicate the best they can.
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."
J B

PixTalk Online Community - 0 views

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    using Smart Phones to enable interaction and communication with autistic children
J B

iPrompts - 0 views

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    Prompts is a software application for the iPhone and iPod Touch. Designed especially for parents, special educators & therapists, iPrompts allows for the presentation of customized picture schedules, "social stories," countdown timers and choice offerings to those with developmental and language impairments. The visual supports packed into iPrompts are used to help get those with special needs through the day. Costs $75.
J B

Microsoft funds mobile-phone software for autistic children - TechFlash: Seattle's Tech... - 0 views

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    software, available for download under an open-source license, lets kids form visual sentences by touching the phone's screen to select pictures and move them around
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