RESUMEN
BACKGROUND: The Knee Numeric-Entity Evaluation Score (KNEES-ACL) is a 41-item condition-specific patient-reported outcome measure (PROM) that was developed for patients with an anterior cruciate ligament (ACL) deficiency and patients after ACL reconstruction. This measure is intended to be used for longitudinal clinical studies. The KNEES-ACL has demonstrated face and content validity and superior responsiveness compared with other PROMs commonly used in patients with an ACL injury. However, this PROM was developed in Danish and has not been appropriately translated and culturally adapted into North American English. PURPOSE: To translate and culturally adapt the KNEES-ACL from Danish to North American English. STUDY DESIGN: Cross-sectional study. METHODS: Translation from Danish to English and cultural adaptation to a North American context were performed according to the dual panel method. First, the Danish KNEES-ACL was translated by a bilingual panel, which provided multiple English wording options for each item. Second, an English lay panel focus group was formed to determine the wording for each item that best reflected everyday spoken language. Finally, individual think-aloud cognitive interviews were conducted with patients after an ACL injury to evaluate the relevance, comprehensiveness, and comprehensibility of the PROM content and questions. Repeated modifications and testing were performed until a final English version of the KNEES-ACL was constructed. RESULTS: Participants in the lay panel focus group were able to reach unanimous decisions for each of the 41 items. Further changes to 17 items were made after 8 think-aloud interviews with patients with ACL injuries at various time points to ensure that items were relevant and being interpreted consistently among different types of patients. The final KNEES-ACL consisted of 6 domains: Problems with Daily Activities, Mental Impact, Stability, Strength and Control, Pain, and Sport and Physical Activity. CONCLUSION: The English KNEES-ACL for patients with ACL injuries has undergone appropriate translation and cultural adaptation using established dual panel and cognitive interviewing methods in the population of interest. The psychometric properties of the English KNEES-ACL will likely mirror those established with the Danish version. However, direct validation of the psychometric properties of the English version would be beneficial before widespread use.
RESUMEN
BACKGROUND: Current guidelines recommend that relatives of index patients with hypertrophic cardiomyopathy (HCM) are offered clinical investigations to identify individuals at risk of adverse disease complications and sudden cardiac death. However, the value of family screening in relatives of index patients with a normal genetic investigation of recognized HCM genes is largely unknown. OBJECTIVES: The purpose of this study was to perform family screening among relatives of HCM index patients with a normal genetic investigation to establish the frequency of familial disease and the clinical characteristics of affected individuals. METHODS: Clinical and genetic investigations were performed in consecutive and unrelated HCM index patients. Relatives of index patients who did not carry pathogenic/likely pathogenic variants in recognized HCM genes were invited for clinical investigations. RESULTS: In total, 60% (270 of 453) of HCM index patients had a normal genetic investigation. A total of 80% of their relatives (751 of 938, median age 44 years) participated in the study. Of these, 5% (34 of 751) were diagnosed with HCM at baseline, whereas 0.3% (2 of 717 [751-34]) developed the condition during 5 years of follow-up. Their median age at diagnosis was 57 years (IQR: 51-70 years). Two-thirds (22 of 36) were diagnosed following family screening, whereas one-third (14 of 36) had been diagnosed previously because of cardiac symptoms, a murmur, or an abnormal electrocardiogram. None of the affected relatives experienced adverse disease complications. The risk of SCD was low. CONCLUSIONS: Systematic family screening of index patients with HCM and normal genetic investigations was associated with a low frequency of affected relatives who appeared to have a favorable prognosis.