Bedömning av handstereotypier vid Rett syndrom

Pediatric Neurology, 75 (2017) 91-95.

Defining hand stereotypies in Rett syndrome: A movement disorders perspective

Dy, M. E., Waugh, J. L., Sharman, N., O´Leary, H., Kapur, K., D´Gama, A. M., . . . Kaufmann, W. E.

Handstereotyper är ett primärt diagnostiskt kriterium för Rett syndrom. Syftet med studien var att utveckla ett verktyg för att beskriva handstereotypier för att bättre kunna beskriva och mäta dessa i observations- och interventionsstudier. Tre experter bedömde frekvens och typ av handstereotypier utifrån videosekvenser med flickor (2-12 år) med diagnos Rett syndrom. I studien uppnåddes, som högst, endast 50% överensstämmelse mellan experternas bedömning. Författarnas slutsats är att variationen i handstereotypier försvårar en standardiserad bedömning.




Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult

to characterize and quantify systematically.



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.



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.



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.

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