Validity and reliability of the Oral Impacts on Daily Performance (OIDP) frequency scale: a cross-sectional study of adolescents in Uganda

BACKGROUND: Assessing oral health related quality of life impact of mouth in adolescents is a relatively ignored area in dental research. This study aimed to examine reliability and validity of an abbreviated version of the oral impact of daily performance (OIDP) questionnaire and to analyse the interrelationship among OIDP scores, socio-demographic characteristics and oral health status in Uganda. METHOD: 1146 adolescents (mean age 15.8, response rate 87%) attending secondary schools in Kampala (urban) and Lira (rural) completed a survey instrument designed to measure subjective oral health indicators including the eight-item OIDP frequency scores. A clinical examination was conducted among 372 students (mean age 16.3, response rate 72%) and caries was assessed following the World Health Organisation criteria (1997). RESULTS: 62% of the students experienced at least one oral impact during the 6 months preceding the survey. Cronbach's alpha for the OIDP frequency items was 0.91 and the corrected item-total correlation ranged from 0.62 to 0.75. Discriminant and construct validity were demonstrated in that the OIDP scores varied systematically in the expected direction with missing teeth and self-report indicators of oral health status, respectively. Socio-demographics and dental attendance did not predict OIDP through interaction with clinical indicators but varied systematically and independently with OIDP frequency scores in the multivariate analysis. CONCLUSION: the OIDP frequency score have acceptable psychometric properties in the context of an oral health survey among Ugandan adolescents. Some evidence of the importance of social and personal characteristics in shaping adolescents' responses to oral disorders was provided

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional studies in vitro demonstrate that SLC10A7 mutations reduce SLC10A7 protein expression. We generate a Slc10a7-/- mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype. Furthermore, we identify decreased heparan sulfate levels in Slc10a7-/- mouse cartilage and patient fibroblasts. Finally, we find an abnormal N-glycoprotein electrophoretic profile in patient blood samples. Together, our findings support the involvement of SLC10A7 in glycosaminoglycan synthesis and specifically in skeletal development