Rett Syndrome: A Timely Review from Recognition to Current Clinical Approaches and Clinical Study Updates

2021 ◽  
pp. 100881
Author(s):  
Autumn S. Ivy ◽  
SM Standridge
2017 ◽  
Vol 76 ◽  
pp. 37-46 ◽  
Author(s):  
Daniel G. Glaze ◽  
Jeffrey. L. Neul ◽  
Alan Percy ◽  
Tim Feyma ◽  
Arthur Beisang ◽  
...  

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Giorgio Pini ◽  
Laura Congiu ◽  
Alberto Benincasa ◽  
Pietro DiMarco ◽  
Stefania Bigoni ◽  
...  

Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p=0.0106) and RSS (p=0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum.


1981 ◽  
Vol 12 (1) ◽  
pp. 26-35 ◽  
Author(s):  
Donald L. McCanna ◽  
Giacinto DeLapa

This report reviews 27 cases of children exhibiting functional hearing loss. The study reveals that most students were in the upper elementary grades and were predominantly females. These subjects were functioning below their ability level in school and were usually in conflict with school, home, or peers. Tests used were selected on the basis of their helping to provide early identification. The subjects' oral and behavioral responses are presented, as well as ways of resolving the hearing problem. Some helpful counseling techniques are also presented.


2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether

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.


2014 ◽  
Vol 23 (3) ◽  
pp. 132-139 ◽  
Author(s):  
Lauren Zubow ◽  
Richard Hurtig

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.


1951 ◽  
Vol 17 (1) ◽  
pp. 35-38 ◽  
Author(s):  
Frank C. Bone ◽  
Chester Cassel ◽  
Julian M. Ruffin ◽  
Robert J. Reeves

1961 ◽  
Vol 40 (2) ◽  
pp. 188-196 ◽  
Author(s):  
Charles H. Brown ◽  
Mauro Merlo ◽  
John B. Hazard

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