Measuring OHQoL using OHIP-14 in elderly: face-to-face vs. telephone interviews

Session: Behavioral, Epidemiologic and Health Services ResearchObjectives: To assess the comparability of OHIP-14 in measuring OHQoL in elderly between two modes of administration (MOA): face-to-face (F) and telephone (T) interviews. Methods: A convenience sample of elderly aged 60 years+ was recruited. Each subject responded to OHIP-14 twice, 1-2 weeks apart, in two randomly assigned groups: First face-to-face, then telephone interview (F-T) or first telephone then face-to-face interview (T-F). Two global measures of perceived oral health status (POHS) and perceived satisfaction on oral health (PSOH) were included. The construct validity and internal consistency of OHIP-14 were assessed by correlating the additive OHIP-14 scores with the two global questions using Spearman rank correlation coefficients (rs) and Cronbach’s alpha, respectively. To measure the agreement of OHIP-14 between the two MOA, only subjects with no difference in POHS or PSOH in the two MOA were included. Kappa coefficients between each item and Altman and Bland 95% limits of agreement (LOA) around the mean difference in OHIP-14 scores between the two MOA were calculated. Results: Altogether 217 elderly participated (F-T:110; T-F:107). The correlation between POHS, PSOH and OHIP-14 scores (rs:0.54-0.59, all p<0.05) and the Cronbach’s alpha (F:0.88; T:0.87) were similar in both MOA indicating comparable validity and reliability. The correlation of OHIP-14 scores between the two MOA was strong (rs=0.744, p<0.05). For those subjects with no difference in POHS, the Kappa values for corresponding items were 0.22-0.38 and 95% LOA in the difference in OHIP-14 scores were 0.77±1.96x4.96 (-8.95, 10.49) between the two MOA. Similar results were found for those subjects with no difference in PSOH. Conclusions: Although the psychometric properties of OHIP-14 were comparable with respect to each MOA, substantial individual variability was present when interviewed in both MOA. Further research employing the same MOA in repeated OHIP-14 measurements to assess the magnitude of individual variability is desired

Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong

Oral Presentation 6: no. OR 6-

Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong

Oral Free Paper Session: Oral Presentation: no. 11Background and Aims: Drug-resistant epilepsy is a neurological disorder which two antiepileptic drugs fails to sustain the seizure free status of the patient. Heterogeneous clinical presentations makes the diagnosis challenging. Recent research has identified various disease causing aberrations in more than 500 genes, including single nucleotide variation, small in-dels, and copy number variations. We aim to identify the genetic cause of our patient cohort by the approach of whole exome sequencing (WES) and chromosomal microarray testing. Method: This is an ongoing project. Up till now, WES was performed on 31 patients (Male n=18, Female n=13, age of onset: Day 1 to 5 years old). Analysis was based on a 546-gene panel established by integrating ten commercially available epilepsy panels, an OMIM search with the term 'epilepsy', and the NIH epilepsy genetics initiative database. Coding variants were identified and filtered based on a population frequency of less than 0.01 listed in 1000 genomes, ESP6500 and ExAC. Rare variants were interrogated for pathogenicity. All detected mutations were validated by Sanger sequencing and segregation analysis performed if parental samples available. If no disease-causing variants can be found, aCGH and trio-based exome wide analysis will be performed. Results: Four de novo mutations (MECP2 n=2, SCN1A n=1, 2q24.3q31.1 del involving SCN1A, SCN2A and SCN9A n=1) and a mosaic splice site mutation (CDKL5) were detected in 5 patients. The patient's phenotype correlated well with the reported clinical features of those carrying the mutations. These mutations were classified as pathogenic/likely pathogenic according to ACMG guideline, giving a diagnostic yield of 16% (5/31) in this cohort. Interestingly, an incidental finding of pathogenic SCN5A mutation (Brugada syndrome) was noted in a patient and this has led to increased ECG surveillance of the patient and family cascade testing. Conclusion: The study suggests that WES and aCGH are effective diagnostic tools of drug resistant epilepsy. Importantly WES can generate both primary and secondary/incidental findings that may have impact on clinical management and will challenge traditional medical concepts like the 'one man, one disease' hypothesis. Acknowledgements: We would like to thank The Society for the Relief of Disabled Children and The Edward and Yolanda Wong Fund for the support