Family perspectives and recovery of motor skills following surgical correction of scoliosis in Rett syndrome

Physiotherapy ◽  
2015 ◽  
Vol 101 ◽  
pp. e327-e328
Author(s):  
J. Downs ◽  
C. Marr ◽  
I. Torode ◽  
H. Leonard
1988 ◽  
Vol 3 (1_suppl) ◽  
pp. S6-S16 ◽  
Author(s):  
Edwin Trevathan ◽  
Sakkubai Naidu

Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. Rett syndrome has been previously reported only in girls, but the possibility of the syndrome existing in male children cannot be currently excluded. Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago. There is currently no marker for the syndrome; diagnosis is based on clinical criteria. The newly developed diagnostic criteria for RS are reviewed, with special attention given to the historical aspects of the diagnosis in the prenatal, perinatal, neonatal, and early childhood periods. Rett syndrome is characterized by a predictable, orderly progression of signs and symptoms. Four stages of RS have been described; each stage has special characteristics and offers different diagnostic challenges for the neurologist. Infantile autism is the most common incorrect diagnosis made for children with RS. The simultaneous regression of both motor and language skills, as well as the stereotypic hand movements, hyperventilation, bruxism, and seizures in early childhood are all typical in RS and help distinguish RS from infantile autism. (J Child Neurol 1988;3(Suppl):S6-S16).


Physiotherapy ◽  
2015 ◽  
Vol 101 ◽  
pp. e326-e327
Author(s):  
J. Downs ◽  
K. Wong ◽  
I. Torode ◽  
C. Ellaway ◽  
E. Elliott ◽  
...  

2014 ◽  
Vol 23 (S1) ◽  
pp. 72-75 ◽  
Author(s):  
T. Hammett ◽  
A. Harris ◽  
B. Boreham ◽  
S. M. H. Mehdian

2022 ◽  
pp. 147-171
Author(s):  
Meir Lotan ◽  
Michelle Stahlhut ◽  
Alberto Romano ◽  
Jenny Downs ◽  
Cochavit Elefant

Rett syndrome is a rare genetically caused condition associated with severe disability and impaired motor functions. Local therapists typically see small numbers of affected individuals, and this limits their capacity to gain experience. Telehealth is being used increasingly to counter poor access to rehabilitation services. Moreover, there is a need to develop management plans that support individuals with Rett syndrome over their lifespan. Three projects in which telehealth support was provided by therapists experienced in Rett syndrome and supported by available local resources are presented in this chapter. The three projects responded to locally identified needs in a cost-efficient way and empowered those working with people with Rett syndrome to maintain and improve their clients' physical function and activity. This chapter will discuss the conceptual underpinnings of delivering a service using a telehealth approach and describe the results and the strategies implemented in the projects mentioned above.


Author(s):  
Kourtney Mraz ◽  
◽  
Gina Amadio ◽  
Pamela Diener ◽  
Grace Eisenberg ◽  
...  

Author(s):  
Anne‐Marie Bisgaard ◽  
Kingsley Wong ◽  
Anne‐Katrine Højfeldt ◽  
Jane Lunding Larsen ◽  
Bitten Schönewolf‐Greulich ◽  
...  

1991 ◽  
Vol 1 (1) ◽  
pp. 28-31 ◽  
Author(s):  
Eugene B. Cooper ◽  
Crystal S. Cooper

A fluency disorders prevention program for classroom use, designed to develop the feeling of fluency control in normally fluent preschool and primary grade children, is described. The program addresses the affective, behavioral, and cognitive aspects of fluency and features activities that not only develop the child’s fluency motor skills but also teach the language of fluency by developing the child’s metalinguistic skills.


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.


1975 ◽  
Vol 40 (1) ◽  
pp. 92-105 ◽  
Author(s):  
Lawrence D. Shriberg

A response evocation program, some principles underlying its development and administration, and a review of some clinical experiences with the program are presented. Sixty-five children with developmental articulation errors of the /ɝ/ phoneme were administered the program by one of 19 clinicians. Approximately 70% of program administrations resulted in a child emitting a good /ɝ/ within six minutes. Approximately 10% of children who were given additional training on program step failures emitted good /ɝ/'s in subsequent sessions. These preliminary observations are discussed in relation to the role of task analysis and motor skills learning principles in response evocation, clinician influences in program outcomes, and professional issues in service delivery to children with developmental articulation errors.


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