Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

2021 ◽  
Author(s):  
Daisuke Hirano ◽  
Yoshinobu Goto ◽  
Hiroaki Shoji ◽  
Takamichi Taniguchi
Keyword(s):  
Rett Syndrome ◽  
Presence And Absence

AAC Supports for Individuals With Rett Syndrome Across the Lifespan

2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether
Keyword(s):  
Rett Syndrome ◽  
Communication Skills ◽  
Preliminary Analysis ◽  
Multidisciplinary Approach ◽  
Motor Deficits ◽  
Complex Profile ◽  
Communication Behaviors ◽  
The Individual

Individuals with Rett syndrome (RS) present with a complex profile. They benefit from a multidisciplinary approach for diagnosis, treatment, and follow-up. In our clinic, the Communication Matrix © (Rowland, 1990/1996/2004) is used to collect data about the communication skills and modalities used by those with RS across the lifespan. Preliminary analysis of this data supports the expected changes in communication behaviors as the individual with RS ages and motor deficits have a greater impact.

Supporting the Use of Rudimentary Vocalizations

2014 ◽  
Vol 23 (3) ◽  
pp. 132-139 ◽  
Author(s):  
Lauren Zubow ◽  
Richard Hurtig
Keyword(s):  
Rett Syndrome ◽  
Visual Cues ◽  
Acoustic Analysis ◽  
Eye Gaze ◽  
Research Question ◽  
Primary Research ◽  
Multiple Modalities ◽  
Face To Face ◽  
Perceptual Judgments ◽  
The Face

Children with Rett Syndrome (RS) are reported to use multiple modalities to communicate although their intentionality is often questioned (Bartolotta, Zipp, Simpkins, & Glazewski, 2011; Hetzroni & Rubin, 2006; Sigafoos et al., 2000; Sigafoos, Woodyatt, Tuckeer, Roberts-Pennell, & Pittendreigh, 2000). This paper will present results of a study analyzing the unconventional vocalizations of a child with RS. The primary research question addresses the ability of familiar and unfamiliar listeners to interpret unconventional vocalizations as “yes” or “no” responses. This paper will also address the acoustic analysis and perceptual judgments of these vocalizations. Pre-recorded isolated vocalizations of “yes” and “no” were presented to 5 listeners (mother, father, 1 unfamiliar, and 2 familiar clinicians) and the listeners were asked to rate the vocalizations as either “yes” or “no.” The ratings were compared to the original identification made by the child's mother during the face-to-face interaction from which the samples were drawn. Findings of this study suggest, in this case, the child's vocalizations were intentional and could be interpreted by familiar and unfamiliar listeners as either “yes” or “no” without contextual or visual cues. The results suggest that communication partners should be trained to attend to eye-gaze and vocalizations to ensure the child's intended choice is accurately understood.

Effects of Noise and Increased Vocal Intensity on Stuttering

1977 ◽  
Vol 20 (2) ◽  
pp. 233-240 ◽  
Author(s):  
Sharon F. Garber ◽  
Richard R. Martin
Keyword(s):  
Normal Level ◽  
Auditory Feedback ◽  
Concomitant Increase ◽  
Vocal Intensity ◽  
Presence And Absence

The present study was designed to assess the effects of increased vocal level on stuttering in the presence and absence of noise, and to assess the effects of noise on stuttering with and without a concomitant increase in vocal level. Accordingly, eight adult stutterers spoke in quiet with normal vocal level, in quiet with increased vocal level, in noise with normal level, and in noise with increased level. All subjects reduced stuttering in noise compared with quiet conditions. However, there was no difference in stuttering when subjects spoke with normal compared with increased vocal level. In the present study, reductions in stuttering under noise could not be explained by increases in vocal level. It appears, instead, that reductions in stuttering were related to a decrease in auditory feedback. The condition which resulted in the largest decrease in auditory feedback, speaking in noise with a normal level, also resulted in the largest decrease in stuttering.

The Preserved Speech Variant of Rett syndrome: Specificity of atypicality?

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
PB Marschik ◽  
A Oberle ◽  
G Vogrinec ◽  
F Laccone ◽  
C Einspieler
Keyword(s):  
Rett Syndrome

Sustained Unilateral Hand-Tapping in Girls with Rett Syndrome: Interpretation of the Electroencephalography

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
A. Herting ◽  
T. Cloppenborg ◽  
M. Bonse ◽  
B. Kohl ◽  
T. Polster
Keyword(s):  
Rett Syndrome ◽  
Hand Tapping

Factor XII Determinations in the Presence and Absence of Phospholipid Antibodies

1998 ◽  
Vol 79 (01) ◽  
pp. 87-90 ◽  
Author(s):  
D. W. Jones ◽  
M. Winter ◽  
M. J. Gallimore
Keyword(s):  
Lower Limit ◽  
Lupus Anticoagulant ◽  
Factor Xii ◽  
Chromogenic Substrate ◽  
Plasma Samples ◽  
Presence And Absence ◽  
Lower Limit Of Normal

SummaryFactor XII (FXII) levels were determined in plasma samples from 29 normal donors, 10 patients with inherited FXII deficiency (all lupus anticoagulant [LA] negative) and 67 LA positive patients, using clotting (FXIIct), chromogenic substrate (FXIIcs) and immunochemical (FXIIag) assays. Excellent correlations were obtained in the three FXII assays with the LA negative samples and between the FXIIcs and FXIIag assays in the LA positive samples. Correlations between both the FXIIcs and FXIIag with FXIIct in the LA positive patients were poor. Of 67 LA positive samples studied, 25 (37.3%) showed lower values in the FXIIct assay; 13 (19.4%) of these patients were pseudo FXII deficient with values of FXII below the lower limit of normal.These results indicate that a diagnosis of FXII deficiency can be made inappropriately in the presence of phospholipid antibodies and that such a diagnosis should not be made by FXIIct assay alone.

Effect of Fibrin-Like Stimulators on the Activation of Plasminogen by Tissue-Type Plasminogen Activator (t-PA) - Studies with Active Site Mutagenized Plasminogen and Plasmin Resistant t-PA

1990 ◽  
Vol 64 (01) ◽  
pp. 061-068 ◽  
Author(s):  
H R Lijnen ◽  
B Van Hoet ◽  
F De Cock ◽  
D Collen
Keyword(s):  
Active Site ◽  
Peptide Bond ◽  
Tissue Type ◽  
Wild Type ◽  
Single Chain ◽  
Plasmin Activity ◽  
Soluble Fibrin ◽  
Type Plasminogen Activator ◽  
Presence And Absence ◽  
Chain Form

SummaryThe activation of plasminogen by t-PA was measured in the presence and absence of fibrin stimulation, using natural human plasminogen (nPlg) and rPlg-Ala740, a recombinant plasminogen with the active site Ser740 mutagenaed to Ala. Recombinant wild type t-PA (rt-PA) was used as well as rt-PA -Glul275, a recombinant single chain t-PA in which the Arg of the plasmin sensitiv e Arg275- Ile276 peptide bond was substituted with Glu. Conversion of 125I-labeled single chain plasminogen to two-chain plasmin by wild-type or mutant t-PA, was quantitated by SDS gel electrophoresis and radioisotope counting of gel slices, and expressed as initial activation rates (v0 in pM s−1) per 1 μM enzyme. In the absence of fibrin stimulation, the vs for the activation of nPlg and rPlg-Ala740 with the single chain forms of both t-PAs were comparable (0.6 to 2.7 pM s−1) but were lower than with the corresponding two-chain forms (5.3 to 23 pM s−1). In the presence of 1 μM soluble fibrin monomer (desAAfibrin), the v0 for nPlg and rPlg-Ala740 by single chain rt-PA was also comparable (24 and, 33 pM s-1 respectively), whereas with 1 pM CNBr-digested fibrinogen, the vs for nPlg with single chain rt-PA was about 20-fold higher than that of rPlg-Ala740 (135 and 7.5 pM s−1 respectively). In contrast, the vs for nPlg and rPlg-Ala740 by single chain rt-PA- G1u275, two-chain rt-PA-G1u275 or two-chain rt-PA were comparable in the presence of either desAAfibrin or CNBr-digested fibrinogen.These findings confirm and establish: 1) that single chain t-PA is an active enzyme both in the presence and absence of fibrin stimulator; 2) that, in a system devoid of plasmin activity (rPlg- Ala740), the two-chain form of t-PA is about L5 times more active than the single chain form in the absence of fibrin but equipotent in the presence of desAAfibrin; and 3) that the mechanism of stimulation of plasminogen activation with single chain t-PA by CNBr-digested fibrinogen is different from that by soluble fibrin.

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