Rett syndrome and associated movement disorders

1990 ◽  
Vol 5 (3) ◽  
pp. 195-202 ◽  
Author(s):  
Patricia M. FitzGerald ◽  
Joseph Jankovic ◽  
Alan K. Percy
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

2008 ◽  
Vol 23 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
Teresa Temudo ◽  
Elisabete Ramos ◽  
Karin Dias ◽  
Clara Barbot ◽  
Jose P. Vieira ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Mecp2 Mutation ◽  
Mutation Type

Myoclonic status misdiagnosed as movement disorders in Rett syndrome: A video-polygraphic study

2009 ◽  
Vol 15 (2) ◽  
pp. 260-262 ◽  
Author(s):  
Giuseppe d’Orsi ◽  
Vincenzo Demaio ◽  
Mauro G. Minervini
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

scholarly journals Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

2017 ◽  
Vol 75 ◽  
pp. 91-95 ◽  
Author(s):  
Marisela E. Dy ◽  
Jeff L. Waugh ◽  
Nutan Sharma ◽  
Heather O'Leary ◽  
Kush Kapur ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders

Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: Diagnostic relevance of video-polygraphy

2012 ◽  
Vol 25 (3) ◽  
pp. 401-407 ◽  
Author(s):  
Giuseppe d'Orsi ◽  
Marina Trivisano ◽  
Concetta Luisi ◽  
Vincenzo Demaio ◽  
Maria Teresa Di Claudio ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Movement Disorders ◽  
Epileptic Seizures

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.

Drug-Induced Movement Disorders

2015 ◽  
Vol 25 (2) ◽  
pp. 70-77
Author(s):  
Amy Lustig ◽  
Cesar Ruiz
Keyword(s):  
Movement Disorders ◽  
Medical Management ◽  
Disease Process ◽  
Underlying Disease ◽  
Extrapyramidal Symptoms ◽  
Drug Induced ◽  
General Overview ◽  
Management Approaches ◽  
Broad Understanding ◽  
Underlying Disease Process

The purpose of this article is to present a general overview of the features of drug-induced movement disorders (DIMDs) comprised by Parkinsonism and extrapyramidal symptoms. Speech-language pathologists (SLPs) who work with patients presenting with these issues must have a broad understanding of the underlying disease process. This article will provide a brief introduction to the neuropathophysiology of DIMDs, a discussion of the associated symptomatology, the pharmacology implicated in causing DIMDs, and the medical management approaches currently in use.

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