Marisela E Dy1, Jeff L Waugh2, Nutan Sharma2, Heather O'Leary3, Kush Kapur3, Alissa M D'Gama4, Mustafa Sahin3, David K Urion3, Walter E Kaufmann5. 1. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. Electronic address: Marisela.dy@childrens.harvard.edu. 2. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. 3. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts. 4. Harvard Medical School, Boston, Massachusetts. 5. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Center for Translational Research, Greenwood Genetic Center, Greenville, South Carolina.
Abstract
INTRODUCTION:Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
RCT Entities:
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
Authors: T Temudo; P Oliveira; M Santos; K Dias; J Vieira; A Moreira; E Calado; I Carrilho; G Oliveira; A Levy; C Barbot; M Fonseca; A Cabral; A Dias; P Cabral; J Monteiro; L Borges; R Gomes; C Barbosa; G Mira; F Eusébio; M Santos; J Sequeiros; P Maciel Journal: Neurology Date: 2007-04-10 Impact factor: 9.910
Authors: Jennifer L Stallworth; Marisela E Dy; Caroline B Buchanan; Chin-Fu Chen; Alexandra E Scott; Daniel G Glaze; Jane B Lane; David N Lieberman; Lindsay M Oberman; Steven A Skinner; Aubin E Tierney; Gary R Cutter; Alan K Percy; Jeffrey L Neul; Walter E Kaufmann Journal: Neurology Date: 2019-05-03 Impact factor: 9.910