Research by Topic: ASF Grantee

Podcast: Where the wild new genetic hot spots are

Published May 7, 2018

On this week’s podcast, three genetics papers featuring three ASF fellows! All three deal with using whole genome sequencing (WGS) to study non-coding regulatory regions that may be associated with autism. These regions of DNA do not code for proteins but regulate the regions that do. Mutations in the non-coding regulatory regions that regulate the […]

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Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse

Published February 7, 2013 in Human Molecular Genetics

This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.

http://hmg.oxfordjournals.org/content/early/2013/02/07/hmg.ddt055.abstract

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Frequency and Pattern of Documented Diagnostic Features and the Age of Autism Identification

Published February 6, 2013 in Journal of the American Academy of Child & Pediatric Psychiatry

The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, according to this study led by an ASF Grantee. Certain diagnostic features, including poor nonverbal communication and repetitive behaviors, were associated with earlier identification of an autism spectrum disorder. Displaying more behavioral features was also associated with earlier diagnosis.For more information about this study, read the guest blog from the lead author here: http://autismsciencefoundation.wordpress.com/2013/04/09/identifying-asd-in-community-settings/

http://www.jaacap.com/article/S0890-8567(13)00076-2/abstract

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Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates

Published January 22, 2013 in JAMA Psychiatry

Researchers found that estimates of the number of children with ASD might be lower using the current DSM-5 criteria than using the previous criteria. This study looked at information collected by CDCs Autism and Developmental Disabilities Monitoring (ADDM) Network. This is the first population-based study in the United States to look at what effect the updated ASD criteria in the DSM-5 might have on estimates of the number of children with ASD. One of the advantages of the ADDM Network method is that it does not rely solely on the presence of an ASD diagnosis, but also includes review of records for children who have behaviors consistent with ASDs, even if they do not have a diagnosis. Because of the way the ADDM Network collects data, in the future CDC will be able to use both the previous DSM-IV-TR and the current DSM-5 criteria to estimate the number of children with ASD. CDC will also continue to evaluate the effect of using the DSM-5 on trends in how doctors and other health professionals diagnose ASD and how service providers evaluate and document symptoms as they transition to using the new criteria.

http://archpsyc.jamanetwork.com/article.aspx?articleid=1814891

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Timothy Syndrome is Associated with Activity-dependent Dendritic Retraction in Rodent and Human Neurons

Published January 13, 2012 in Nature Neuroscience

Stanford researchers, including ASF Grantee Alex Shcheglovitov, discovered a key mechanism underlying Timothy syndrome, a disorder associated with ASD.

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3307.html#/affil-auth

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