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Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

Authors Monteiro CBM, Savelsbergh GJP, Smorenburg ARP, Graciani Z, Torriani-Pasin C, de Abreu LC, Valenti VE, Kok F

Received 10 November 2013

Accepted for publication 23 December 2013

Published 3 July 2014 Volume 2014:10 Pages 1213—1222

DOI https://doi.org/10.2147/NDT.S57333

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Carlos BM Monteiro,1 Geert JP Savelsbergh,2 Ana RP Smorenburg,3 Zodja Graciani,4 Camila Torriani-Pasin,5 Luiz Carlos de Abreu,6 Vitor E Valenti,7 Fernando Kok4

1School of Arts, Sciences and Humanities, University of São Paulo, São Paulo, Brazil; 2MOVE Research Institute Amsterdam, Faculty of Human Movement Sciences, VU University, Amsterdam, the Netherlands; 3Burke-Cornell Medical Research Institute, White Plains, NY, USA; 4Department of Neurology, University of São Paulo, São Paulo, Brazil; 5Motor Behavior Laboratory, University of São Paulo, São Paulo, Brazil; 6Laboratory of Scientific Writing, Department of Morphology and Physiology, School of Medicine of ABC, Santo Andre, Brazil; 7Department of Speech Language and Hearing Therapy, Faculty of Philosophy and Sciences, UNESP, Marilia, Brazil

Abstract: We aimed to evaluate the functional abilities of persons with Rett syndrome (RTT) in stages III and IV. The group consisted of 60 females who had been diagnosed with RTT: 38 in stage III, mean age (years) of 9.14, with a standard deviation of 5.84 (minimum 2.2/maximum 26.4); and 22 in stage IV, mean age of 12.45, with a standard deviation of 6.17 (minimum 5.3/maximum 26.9). The evaluation was made using the Pediatric ­Evaluation of Disability Inventory, which has 197 items in the areas of self-care, mobility, and social function. The results showed that in the area of self-care, stage III and stage IV RTT persons had a level of 24.12 and 18.36 (P=0.002), respectively. In the area of mobility, stage III had 37.22 and stage IV had 14.64 (P<0.001), while in the area of social function, stage III had 17.72 and stage IV had 12.14 (P=0.016). In conclusion, although persons with stage III RTT have better functional abilities when compared with stage IV, the areas of mobility, self-care, and social function are quite affected, which shows a great functional dependency and need for help in basic activities of daily life.

Keywords: Rett syndrome, disability evaluation, self-care, mobility limitation

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