scholarly journals Analysis of X chromosome inactivation in autism spectrum disorders

2008 ◽  
Vol 147B (6) ◽  
pp. 830-835 ◽  
Author(s):  
Xiaohong Gong ◽  
Elena Bacchelli ◽  
Francesca Blasi ◽  
Claudio Toma ◽  
Catalina Betancur ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
X Chromosome ◽  
Autism Spectrum ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Spectrum Disorders

scholarly journals Autism spectrum disorders associated with X chromosome markers in French-Canadian males

2005 ◽  
Vol 11 (2) ◽  
pp. 206-213 ◽  
Author(s):  
J Gauthier ◽  
R Joober ◽  
M-P Dubé ◽  
J St-Onge ◽  
A Bonnel ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
X Chromosome ◽  
Autism Spectrum ◽  
French Canadian ◽  
Chromosome Markers ◽  
Spectrum Disorders

scholarly journals A brain network basis of Fragile X syndrome behavioral penetrance determined by X chromosome inactivation in female mice

2018 ◽  
Author(s):  
Eric Szelenyi ◽  
Danielle Fisenne ◽  
Joseph E Knox ◽  
Julie A Harris ◽  
James A Gornet ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Cell Density ◽  
X Chromosome ◽  
Fragile X ◽  
Mutant Cell ◽  
Autism Spectrum ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Entry Points ◽  
Parent Of Origin

ABSTRACTX-chromosome inactivation (XCI) in females is vital for normal brain function and cognition, as many X-linked genetic mutations lead to mental retardation and autism spectrum disorders, such as the fragile X syndrome (FXS). However, the degree by which XCI regulates disease presentation has been poorly investigated. To study this regulation in the mouse, here we quantified the brainwide composition of active-XC cells at single cell resolution using an X-linked MECP2-EGFP allele with known parent-of-origin. We present evidence that whole-brains, including all regions, on average favor maternal XC-active cells by 20%, or 8 million cells. This bias was conserved in heterozygous FXS mutant mice, which also corresponded to disease penetrance in maternal but not paternal FMR1 null mice. To localize the physical source of behavioral penetrance, brain-wide correlational screens successfully mapped mouse performance to cell densities in putative sensorimotor (e.g. sensory hindbrain, thalamus, globus pallidus) and sociability (e.g. visual/entorhinal cortices, bed nucleus stria terminalis, medial preoptic area) behavioral circuits of the open field sensorimotor and 3-chamber sociability assays, respectively. Overall, 50%/50% healthy/mutant cell density ratios in these sub-networks were required for disease presentation in each behavior. These results suggest female X-linked behavioral penetrance of disease is regulated at the distributed level of mutant cell density in behavioral circuits, which is set by XCI that is subject to parent-of-origin effects. This work provides a novel finding behind the broad and varied behavioral phenotypes commonly featured in female patients debilitated by X-linked mental disorders and may offer new entry points for behavioral therapeutics.

Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders

2008 ◽  
Vol 146A (17) ◽  
pp. 2213-2220 ◽  
Author(s):  
Julie R. Jones ◽  
Cindy Skinner ◽  
Michael J. Friez ◽  
Charles E. Schwartz ◽  
Roger E. Stevenson
Keyword(s):  
Autism Spectrum Disorders ◽  
X Chromosome ◽  
Autism Spectrum ◽  
Spectrum Disorders

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation

2019 ◽  
Vol 62 (4) ◽  
pp. 239-242 ◽  
Author(s):  
Mahmoud Aarabi ◽  
Elena Kessler ◽  
Suneeta Madan-Khetarpal ◽  
Urvashi Surti ◽  
Daniel Bellissimo ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
X Chromosome ◽  
Autism Spectrum ◽  
X Chromosome Inactivation ◽  
Spectrum Disorder ◽  
Chromosome Inactivation ◽  
Random Pattern

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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