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Tero Toivanen

Sensory processing in autism - 0 views

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    Furthermore, analysis of the patterns of sensory processing impairments revealed striking within-group variability in the ASD group, suggesting that individuals with ASD could experience very different, yet similarly severe, sensory processing abnormalities. These results suggest that unusual sensory processing in ASD extends across the lifespan and have implications regarding both the treatment and the diagnosis of ASD in adulthood.
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.
  • ...3 more annotations...
  • 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."
Patti Porto

ASERT PA Autism > Philadelphia Autism Project > About the Project > Project Highlights ... - 0 views

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    "These groundbreaking family-focused films detail the emotional reality of dealing with an autism diagnosis; how it affects the family unit and the unique challenges that families from diverse cultural backgrounds face. The goal of these videos is to increase awareness, in order to help children from underserved families to become better armed to obtain equal services."
Graeme Wadlow

Autism Spectrum Disorder Proposed Revision | APA DSM-5 - 0 views

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    Autism Spectrum Disorder Proposed Revision | APA DSM-5 Autism Spectrum Disorder Must meet criteria A, B, C, and D
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