Antibodies in Stiff-Person Spectrum Disorders and Their Correlations with Clinical Phenotypes

2020 ◽  
pp. 73-86
Author(s):  
Pichet Termsarasab ◽  
Thananan Thammongkolchai ◽  
Bashar Katirji
Keyword(s):  
Clinical Phenotypes ◽  
Spectrum Disorders

Association between OXTR and clinical phenotypes of autism spectrum disorders

2013 ◽  
Vol 208 (1) ◽  
pp. 99-100 ◽  
Author(s):  
Jun Egawa ◽  
Yuichiro Watanabe ◽  
Taro Endo ◽  
Ryu Tamura ◽  
Naio Masuzawa ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Clinical Phenotypes ◽  
Spectrum Disorders

scholarly journals Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes

2011 ◽  
Vol 2 (1) ◽  
pp. 15 ◽  
Author(s):  
Kristina Aldridge ◽  
Ian D George ◽  
Kimberly K Cole ◽  
Jordan R Austin ◽  
T Nicole Takahashi ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Clinical Phenotypes ◽  
Prepubertal Boys ◽  
Spectrum Disorders

scholarly journals Association of rs2129575 in the tryptophan hydroxylase 2 gene with clinical phenotypes of autism spectrum disorders

2013 ◽  
Vol 67 (6) ◽  
pp. 457-458 ◽  
Author(s):  
Jun Egawa ◽  
Yuichiro Watanabe ◽  
Taro Endo ◽  
Toshiyuki Someya
Keyword(s):  
Autism Spectrum Disorders ◽  
Tryptophan Hydroxylase ◽  
Autism Spectrum ◽  
Tryptophan Hydroxylase 2 ◽  
Clinical Phenotypes ◽  
Spectrum Disorders

scholarly journals Distinct roles of GRIN2A and GRIN2B variants in neurological conditions

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1940 ◽  
Author(s):  
Scott J Myers ◽  
Hongjie Yuan ◽  
Jing-Qiong Kang ◽  
Francis Chee Kuan Tan ◽  
Stephen F Traynelis ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Autism Spectrum ◽  
Clinical Phenotypes ◽  
Hyperactivity Disorder ◽  
Functional Consequences ◽  
Spectrum Disorders ◽  
Circuit Function ◽  
Available Information ◽  
Insight Into

Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease and have also enabled the assembly of a robust database of variants in healthy individuals. A surprising number of variants in the GRIN genes that encode N-methyl-D-aspartate (NMDA) glutamatergic receptor subunits have been found in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention-deficit/hyperactivity disorder, and schizophrenia. This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in GRIN2A and GRIN2B. Comparison of clinical phenotypes shows that GRIN2A variants are commonly associated with an epileptic phenotype but that GRIN2B variants are commonly found in patients with neurodevelopmental disorders. These observations emphasize the distinct roles that the gene products serve in circuit function and suggest that functional analysis of GRIN2A and GRIN2B variation may provide insight into the molecular mechanisms, which will allow more accurate subclassification of clinical phenotypes. Furthermore, characterization of the pharmacological properties of variant receptors could provide the first opportunity for translational therapeutic strategies for these GRIN-related neurological and psychiatric disorders.

Influence of the 5-HTR1A C-1019G polymorphism on clinical phenotypes of autism spectrum disorders

2012 ◽  
Vol 198 (2) ◽  
pp. 336-337 ◽  
Author(s):  
Jun Egawa ◽  
Taro Endo ◽  
Ryu Tamura ◽  
Naio Masuzawa ◽  
Naoki Fukui ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Clinical Phenotypes ◽  
Spectrum Disorders

Problem behavior in autism spectrum disorders: A paradigmatic self-organized perspective of network structures

2019 ◽  
Vol 42 ◽  
Author(s):  
Lucio Tonello ◽  
Luca Giacobbi ◽  
Alberto Pettenon ◽  
Alessandro Scuotto ◽  
Massimo Cocchi ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Problem Behaviors ◽  
Autism Spectrum ◽  
The Self ◽  
Network Structures ◽  
Self Organized ◽  
Critical Equilibrium ◽  
Self Organized Criticality ◽  
Acute Agitation ◽  
Spectrum Disorders

AbstractAutism spectrum disorder (ASD) subjects can present temporary behaviors of acute agitation and aggressiveness, named problem behaviors. They have been shown to be consistent with the self-organized criticality (SOC), a model wherein occasionally occurring “catastrophic events” are necessary in order to maintain a self-organized “critical equilibrium.” The SOC can represent the psychopathology network structures and additionally suggests that they can be considered as self-organized systems.

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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