Objective: To develop and validate a simple, easy to use, community-based, screening questionnaire for the diagnosis of X-linked dystonia parkinsonism (XDP), a movement disorder afflicting mostly men with roots from the Philippine island of Panay.

Background: The current prevalence of the condition is not yet known. In addition, no screening tool for the condition exists. By producing a questionnaire that may be utilised by community health workers, this screening tool is intended to be the first step in identifying XDP’s prevalence.

Methods: Community health workers administered an 11-item yes/no questionnaire, in the native Panay island language, comprising elements from existing questionnaires on Parkinson’s disease and dystonia, and known clinical features of XDP on 54 genetically confirmed XDP patients and 54 healthy controls all from the island of Panay. The data was partitioned into a training (n=88) and a test set (n=20). To select which items were predictive of XDP, logistic regression was done to build a predictive model which was then run on the test data set.

Results: Four items on ‘sustained twisting’, ‘jaw opening and closing’, ‘slowness in movement’ and ‘shuffling steps’ were found to be the most predictive of XDP. All had at least a ‘good’ CUI. The questions demonstrated 100% sensitivity and 100% specificity (95% CI: 65.6-100%) in identifying XDP suspects when applied to the test data set for XDP.

Conclusions: The resulting questionnaire comprising 4 items was found to be predictive of XDP. The screening instrument can be used to screen for XDP in a large scale population based prevalence study.

Submitted for presentation: 5th Asian and Oceanian Parkinson’s disease and Movement Disorders Congress; March 11–13, 2016 • MANILA, PHILIPPINES.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/validation-of-a-screening-questionnaire-for-x-linked-dystonia-parkinsonism-xdp-the-first-phase-of-the-population-based-prevalence-study-of-xdp-in-panay/