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Tero Toivanen

Mutations in 3 Genes Linked to Autism Spectrum Disorders - 1 views

  • Mutations in 3 Genes Linked to Autism Spectrum Disorders : Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine
  • The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature.
  • The genes with mutations identified in the studies – CHD8, SNC2A, and KATNAL2 – were discovered with a new state-of-the-art genomics technology known as exome sequencing, where all protein coding regions of the genome, called the exome, are analyzed.
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  • The researchers say that with further characterization of the genes and sequencing of genes in thousands of families, they will be able to develop novel therapeutics and preventive strategies for autism.
  • The institutions involved in this study sequenced data from more than 500 families (both parents and the affected child), examining the protein-enriched areas of the genome.
  • “When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” said Dr. Buxbaum. “Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected.”

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."
Tero Toivanen

Autism Information - Autism Information You Need To Know - 1 views

  • 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).
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    Important facts and information about autism.
Tero Toivanen

YouTube - Aditi Shankardass: A second opinion on learning disorders - 3 views

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    Developmental disorders in children are typically diagnosed by observing behavior, but we should be looking directly at their brains. 
Tero Toivanen

SpringerLink - Journal Article - 1 views

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    Melatonin significantly improved sleep latency (by an average of 47 min) and total sleep (by an average of 52 min) compared to placebo, but not number of night wakenings. The side effect profile was low and not significantly different between the two arms.
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