scholarly journals Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations

2007 ◽  
Vol 12 (11) ◽  
pp. 977-979 ◽  
Author(s):  
C Toma ◽  
◽  
M Rossi ◽  
I Sousa ◽  
F Blasi ◽  
...  
2010 ◽  
Vol 18 (9) ◽  
pp. 1013-1019 ◽  
Author(s):  
Richard Holt ◽  
◽  
Gabrielle Barnby ◽  
Elena Maestrini ◽  
Elena Bacchelli ◽  
...  

2019 ◽  
Vol 79 ◽  
pp. 314-318 ◽  
Author(s):  
Franca R. Guerini ◽  
Elisabetta Bolognesi ◽  
Stefano Sotgiu ◽  
Alessandra Carta ◽  
Claudia Clerici ◽  
...  

PLoS ONE ◽  
2014 ◽  
Vol 9 (11) ◽  
pp. e112531 ◽  
Author(s):  
Jingrui Xing ◽  
Chenyao Wang ◽  
Hiroki Kimura ◽  
Yuto Takasaki ◽  
Shohko Kunimoto ◽  
...  

2010 ◽  
Vol 18 (9) ◽  
pp. 1020-1020
Author(s):  
Richard Holt ◽  
◽  
Gabrielle Barnby ◽  
Elena Maestrini ◽  
Elena Bacchelli ◽  
...  

Assessment ◽  
2017 ◽  
Vol 26 (8) ◽  
pp. 1474-1479 ◽  
Author(s):  
Aja Louise Murray ◽  
Tom Booth ◽  
Bonnie Auyeung ◽  
Karen McKenzie ◽  
Renate Kuenssberg

There are concerns that females with autism spectrum disorders (ASD) may be underidentified because of factors such as better camouflaging and poorer recognition of the signs of ASD in females. One stage at which females may be underidentified is during screening. In this study, we, therefore, evaluated whether the autism spectrum quotient (AQ-10), a brief recommended screening instrument for ASD in adults suspected of having ASD, showed any evidence of underestimating symptoms in females. Our results broadly replicate those of an earlier study in finding no strong evidence that the AQ-10 is biased against females. However, to achieve better performance in females, we suggest that one item be replaced with an item measuring more “female” manifestations of ASD.


eLife ◽  
2014 ◽  
Vol 3 ◽  
Author(s):  
Yuntao Duan ◽  
Shih-Hsiu Wang ◽  
Juan Song ◽  
Yevgeniya Mironova ◽  
Guo-li Ming ◽  
...  

Human SEMAPHORIN 5A (SEMA5A) is an autism susceptibility gene; however, its function in brain development is unknown. In this study, we show that mouse Sema5A negatively regulates synaptogenesis in early, developmentally born, hippocampal dentate granule cells (GCs). Sema5A is strongly expressed by GCs and regulates dendritic spine density in a cell-autonomous manner. In the adult mouse brain, newly born Sema5A−/− GCs show an increase in dendritic spine density and increased AMPA-type synaptic responses. Sema5A signals through PlexinA2 co-expressed by GCs, and the PlexinA2-RasGAP activity is necessary to suppress spinogenesis. Like Sema5A−/− mutants, PlexinA2−/− mice show an increase in GC glutamatergic synapses, and we show that Sema5A and PlexinA2 genetically interact with respect to GC spine phenotypes. Sema5A−/− mice display deficits in social interaction, a hallmark of autism-spectrum-disorders. These experiments identify novel intra-dendritic Sema5A/PlexinA2 interactions that inhibit excitatory synapse formation in developmentally born and adult-born GCs, and they provide support for SEMA5A contributions to autism-spectrum-disorders.


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).


2012 ◽  
Vol 17 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Pamela A. Smith

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.


Sign in / Sign up

Export Citation Format

Share Document