Faculty Opinions recommendation of Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

2012 ◽  
Author(s):  
Gail Herman
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Functional Analyses ◽  
Multiple Hit

scholarly journals Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

PLoS Genetics ◽  
2012 ◽  
Vol 8 (2) ◽  
pp. e1002521 ◽  
Author(s):  
Claire S. Leblond ◽  
Jutta Heinrich ◽  
Richard Delorme ◽  
Christian Proepper ◽  
Catalina Betancur ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
Functional Analyses ◽  
Multiple Hit

An Overview of the Genetics of Autism Spectrum Disorders

2013 ◽  
Author(s):  
Joseph D. Buxbaum
Keyword(s):  
Autism Spectrum Disorders ◽  
Gene Discovery ◽  
Autism Spectrum ◽  
Good Evidence ◽  
Not Otherwise Specified ◽  
Second Generation Sequencing ◽  
Spectrum Disorders ◽  
Clinical Measures ◽  
Functional Analyses ◽  
Generation Sequencing

There is very good evidence for a strong genetic component to the autism spectrum disorders (ASDs), which include autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified, and Rett syndrome. At the same time, identifying the loci contributing to ASD risk has proven difficult because of extreme heterogeneity. However, in spite of these difficulties, many ASD loci have been identified and, even using current clinical measures, an etiological diagnosis can be given in upward of 20% of cases. With the introduction of “second-generation” sequencing, gene discovery in ASDs will accelerate. As genes are being discovered, functional analyses are leading to potential novel therapeutics, and there is great optimism for more effective treatments in ASDs arising from gene discovery. In the current review, some of the important findings in ASD genetics will be outlined, as will the next steps in ASD genetics.

Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb
Keyword(s):  
Autism Spectrum Disorders ◽  
Young Children ◽  
Children With Autism ◽  
Descriptive Study ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Children With Asd ◽  
Young Children With Autism ◽  
Spectrum Disorders ◽  
Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

Aging and Autism

2012 ◽  
Vol 17 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Pamela A. Smith
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorders ◽  
Patient Group ◽  
Older Patients ◽  
Geriatric Patients ◽  
Recent Literature ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Need For Support ◽  
Spectrum Disorders

In this article, I will review the available recent literature about the aging population with autism, a patient group that researchers know little about and a group that is experiencing a growing need for support from communication disorders professionals. Speech-language pathologists working with geriatric patients should become familiar with this issue, as the numbers of older patients with autism spectrum disorders is likely to increase. Our profession and our health care system must prepare to meet the challenge these patients and residents will present as they age.

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