Objectives: This study aimed to assess potential associations between self-reported symptoms of laryngopharyngeal reflux (LPR) and voice disorders among two undiagnosed cohorts in Saudi Arabia. Methods: This cross-sectional study was conducted from February to April 2017 in Khobar, Saudi Arabia. Validated Arabic versions of the Reflux Symptom Index (RSI) and 10-item Voice Handicap Index (VHI-10) were distributed to 400 teachers at 13 schools and 300 members of the general population attending an ear, nose and throat clinic in Khobar. Scores of >13 and >11 on the RSI and VHI-10 indicated a potential subjective diagnosis of LPR and voice disorders, respectively. Results: A total of 446 individuals took part in the study, including 260 members of the general population (response rate: 86.7%) and 186 teachers (response rate: 46.5%). The mean age was 32.5 years. In total, 62.2% complained of voice and/or reflux problems, with the remaining 37.8% not reporting/unaware of any problems in this regard. Among the teachers, 30.6% and 18.3% had positive RSI and VHI-10 scores, respectively, while 43.1% and 14.6% of the individuals from the general population had positive RSI and VHI-10 scores, respectively. Overall, VHI-10 scores were significantly associated with RSI scores (P <0.001). Conclusion: A significant association between RSI and VHI-10 scores suggests that there may be an association between LPR and voice disorders. These tools would therefore be a valuable method of monitoring patients; however, they cannot be used to confirm a diagnosis. Thus, more detailed studies are needed to confirm this association using a larger sample size.Keywords: Voice Disorders; Laryngopharyngeal Reflux; Hoarseness; Diagnostic Self Evaluation; School Teachers; Saudi Arabia.
Background
Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees.
Results
We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed.
Conclusion
Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.
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