scholarly journals The need for a comprehensive molecular characterization of autism spectrum disorders

2013 ◽  
Vol 17 (04) ◽  
pp. 651-673 ◽  
Author(s):  
Jantine A. C. Broek ◽  
Eva Brombacher ◽  
Viktoria Stelzhammer ◽  
Paul C. Guest ◽  
Hassan Rahmoune ◽  
...  
2014 ◽  
Vol 4 (6) ◽  
pp. e394-e394 ◽  
Author(s):  
J Y An ◽  
A S Cristino ◽  
Q Zhao ◽  
J Edson ◽  
S M Williams ◽  
...  

2021 ◽  
Author(s):  
Paul C Marcogliese ◽  
Samantha L Deal ◽  
Jonathan Andrews ◽  
J Michael Harnish ◽  
V Hemanjani Bhavana ◽  
...  

Abstract:Individuals with autism spectrum disorders (ASD) exhibit an increased burden of de novo variants in a broadening range of genes. We functionally tested the effects of ASD missense variants using Drosophila through ‘humanization’ rescue and overexpression-based strategies. We studied 79 ASD variants in 74 genes identified in the Simons Simplex Collection and found 38% of them caused functional alterations. Moreover, we identified GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in eight previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes point to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.


2006 ◽  
Vol 15 (5) ◽  
pp. 539-552 ◽  
Author(s):  
Gerardo Herrera ◽  
Rita Jordan ◽  
Lucí Vera

This paper argues that presence, as shown in virtual environments, can usefully be seen as comprising various subtypes and that these in turn may have common conceptual and ontological features with a sense of agency as defined by Russell (1996, Agency: Its Role in Mental Development, Erlbaum.). Furthermore, an analysis of Russell's characterization of the concept of agency may be useful for acquiring insight into the sense of presence itself and the variables affecting it. Empirical evidence from cognitive developmental research and the positive results of attempts to develop symbolic understanding in people with autism spectrum disorders (ASD) in virtual environments suggest that presence may be more about experiencing agency than either pretending to be there or constructing and reconstructing mental models in real time. This analysis is used to shed some light on the current issues of presence research and to open up new philosophical and psychological aspects, in relation to both presence and ASD.


2016 ◽  
Vol 122 ◽  
pp. 29-34 ◽  
Author(s):  
Jessica A. Burket ◽  
Chelsea M. Young ◽  
Torrian L. Green ◽  
Andrew D. Benson ◽  
Stephen I. Deutsch

2011 ◽  
Vol 19 (12) ◽  
pp. 1264-1270 ◽  
Author(s):  
Xudong Liu ◽  
Patrick Malenfant ◽  
Chelsea Reesor ◽  
Alana Lee ◽  
Melissa L Hudson ◽  
...  

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb

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).


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