P.18.6 Self-questionnaire is effective for screening of patients with myotonic dystrophy

Abstract

Since myotonic dystrophy (DM) is a multi-systemic disease, most of patients visit different clinical departments depending on their initial symptoms. However, diagnosis is not easy except neurologists. A part of patients have not been diagnosed as DM until perinatal or perioperative troubles. Therefore, a useful screener for DM is essential to avoid such troubles and to introduce multidisciplinary approach smoothly. As a first step, we evaluated the sensitivity and specificity of physical examination and questionnaire in a small number of patients. In this step we found that well designed questionnaire is comparable to physical examination. Then we planned to assess the sensitivity and specificity of self-questionnaire with nine items (cataract: C, whistle: W, dysphagia: D, head-lift: H, sit-up: S, uncapping: U, drop foot: F, myotonia: M and family history of myopathy). Total 347 subjects including 95 DM, 121 healthy controls (HC) and 131 disease controls (DC) cooperated with this study. Participants answered all questions to their own discretion and no advices were given from medical staffs. Family history was excluded from statistical analysis since many HC were family members of DM. The sensitivities were quite variable among items and exceeded 70% in only three items (S, F, M) in mild DM cases requiring no assistance in daily living. The specificities of all items exceeded 80% in HC and those of three items (H, U, M) surpassed 95%. The specificities were various in DC and exceeded 75% in four items (C, H, U, M) in mild cases. Analyses using receive operating characteristic (ROC) curve revealed that combination of H + U + M had the largest values of area of under the curve. The sensitivity of this combination was 100% in mild DM. The specificity in HC was 98.3% and 69.2% in mild DC. The combination of H + S+U + M had also quite high values. Adding family history to these three or four items, DM patients can be effectively identified. Since myotonic dystrophy (DM) is a multi-systemic disease, most of patients visit different clinical departments depending on their initial symptoms. However, diagnosis is not easy except neurologists. A part of patients have not been diagnosed as DM until perinatal or perioperative troubles. Therefore, a useful screener for DM is essential to avoid such troubles and to introduce multidisciplinary approach smoothly. As a first step, we evaluated the sensitivity and specificity of physical examination and questionnaire in a small number of patients. In this step we found that well designed questionnaire is comparable to physical examination. Then we planned to assess the sensitivity and specificity of self-questionnaire with nine items (cataract: C, whistle: W, dysphagia: D, head-lift: H, sit-up: S, uncapping: U, drop foot: F, myotonia: M and family history of myopathy). Total 347 subjects including 95 DM, 121 healthy controls (HC) and 131 disease controls (DC) cooperated with this study. Participants answered all questions to their own discretion and no advices were given from medical staffs. Family history was excluded from statistical analysis since many HC were family members of DM. The sensitivities were quite variable among items and exceeded 70% in only three items (S, F, M) in mild DM cases requiring no assistance in daily living. The specificities of all items exceeded 80% in HC and those of three items (H, U, M) surpassed 95%. The specificities were various in DC and exceeded 75% in four items (C, H, U, M) in mild cases. Analyses using receive operating characteristic (ROC) curve revealed that combination of H + U + M had the largest values of area of under the curve. The sensitivity of this combination was 100% in mild DM. The specificity in HC was 98.3% and 69.2% in mild DC. The combination of H + S+U + M had also quite high values. Adding family history to these three or four items, DM patients can be effectively identified.