Exploring the self-efficacy of patients with diabetes: its role as a predictor of diabetes management and well-being.

Background: Self-efficacy is a popular psychological concept that refers to an individual's perception or belief in his ability to perform specific actions. This study aimed to assess the predictive value of self-efficacy, measured using the Self-Efficacy for Managing Chronic Disease 6-Item Scale (SEM6S) questionnaire, for diabetes management and overall well-being in patients with diabetes. Subject and methods: An anonymous online cross-sectional study was conducted to evaluate the self-efficacy of diabetic patients in the Asser region of Saudi Arabia. The participants were requested to upload their most recent glycated hemoglobin A1C (HbA1C) measurements taken in the last three months, which helped in the accurate categorization of their diabetes as either controlled or uncontrolled. We used the valid Arabic version of the SEM6S and WHO-5 well-being questionnaires to assess patient self-efficacy and well-being. Results: A cohort of 342 patients was enrolled in the study, 67.25% were married, their mean age was 43.17 ± 17.61 years, and 52.69% had university-level or higher education. Among the participants, 46.0% exhibited well-being, while 24.9% reported poor well-being, including 9.4% who were identified as experiencing depression. The mean scores of self-efficacy and well-being were significantly higher among those with controlled diabetes versus uncontrolled diabetes (40.86 ± 13.26 vs. 36.48 ± 13.26) and (67.35 ± 21.22 vs. 60.93 ± 25.05), respectively. The predictors of glycemic control were self-efficacy [Odds ratio (OR)=1.03 (95%CI, 1.01-1.06, P=0.002], having other chronic diseases [OR=3.25 (95%CI), P<0.001], having type 1 diabetes [OR=7.16, 95%CI, P=0.005], being Saudi [OR=7.67, (95%CI, P=0.027], working in a public sector [OR=0.15, (95%CI, 0.05-0.44), P=0.005], being unemployed [OR=0.19, (95%CI, 0.06-0.59), P=0.005], being a smoker [OR=0.44, 95%CI, 0.19-0.98, P=0.048], and duration of diabetes between 6-10 years [OR= 0.33, 95%CI, 0.11-0.95), P=0.043] or more than 10 years OR=0.32, 95%CI, 0.12-0.86), P=0.026]. The main determinants of well-being were having self-efficacy [OR=1.07 (95%CI, 1.04-1.09), P = 0.0001], having public health insurance [OR=4.36 (95%CI, P=0.015], and education level (read and write) [OR=0.13 (95%CI,.02-.70), P=0.021]. Conclusions: The study reveals that non-modifiable and modifiable factors, including self-efficacy, play a crucial role in diabetes control. The study recommends providing targeted educational interventions, using different social media platforms, psychosocial support programs, and inclusive healthcare policies to improve diabetes control and mental well-being among diabetic patients.

Prediction of Diabetes and Prediabetes among the Saudi Population Using a Non-Invasive Tool (AUSDRISK).

Background and Objectives: Screening for type 2 diabetes mellitus (DM2) aims to identify asymptomatic individuals who may be at a higher risk, allowing proactive interventions. The objective of this study was to predict the incidence of DM2 and prediabetes in the Saudi population over the next five years. Materials and Methods: The study was conducted in the Aseer region through August 2023 using a cross-sectional survey for data collection. A multistage stratified random sampling technique was adopted, and data were collected through face-to-face interviews using the validated Arabic version of the Australian Type 2 Diabetes Risk Assessment Tool (AUSDRISK). Results: In total, 652 individuals were included in the study. Their mean age was 32.0 ± 12.0 years; 53.8% were male, 89.6% were from urban areas, and 55.8% were single. There were statistically significant differences between males and females in AUSDRISK items, including age, history of high blood glucose, use of medications for high blood pressure, smoking, physical activity, and measurements of waist circumference (p < 0.05). Based on AUSDRISK scores, 46.2% of the included participants were predicted to develop impaired glucose tolerance within the coming five years (65.8% among females vs. 23.6%), and 21.9% were predicted to develop DM2 (35.6% among males vs. 6.0% among females); this difference was statistically significant (p = 0.0001). Conclusions: Urgent public health action is required to prevent the increasing epidemic of DM2 in Saudi Arabia.

Physicians' attitudes and confidence toward dementia care: A cross-sectional study at primary healthcare facilities in the Eastern Province, Saudi Arabia.

BACKGROUND: Primary care physicians play an essential role in the health of older adults as they are frequently the first point of contact. Their positive attitude and knowledge influence the quality of care provided to patients with dementia and their caregivers. This study examined the attitudes of primary care physicians towards dementia care and their confidence in their own dementia-care skills. MATERIALS AND METHODS: This cross-sectional study was conducted among 316 primary care physicians working in Eastern Province of Saudi Arabia. Data were collected using a structured questionnaire that included questions related to demographic characteristics, Dementia Care Attitude Scale (DCAS) to assess attitudes towards dementia, and Confidence in Dementia Care Skills (CDCS) Scale to measure confidence. Data were analyzed using SPSS version 29; mean and standard deviation (SD) were computed for continuous and categorical variables were described using frequencies and percentages. Mann Whitney U test and Kruskal Wallis test were used to compare attitude and confidence scores by categorical variables. RESULTS: The mean DCAS score was 36.4 ± 5.41 out of 50. On a scale ranging from 15 to 75, the mean CDCS was 51.89 ± 10.20. A statistically significant (P < 0.05) relation was found between confidence and professional rank, knowing close relatives with dementia, and number of dementia and elderly patients treated. Overall, 78.9% of physicians lacked confidence to prescribe memory medications; 32% felt that dementia management was generally more frustrating than rewarding. CONCLUSION: Primary care physicians had a positive attitude toward caring for patients with dementia. However, they lacked confidence in their dementia care skills in several areas. The confidence in their diagnostic skills was higher than their management skills. Most challenging skills were recognizing and managing behavioral symptoms of dementia. Need to develop educational and training interventions that target healthcare providers to help improving dementia care in primary care settings.

The Association Between Vitamin D Deficiency and the Level of Fasting C Peptide Among Patients With Uncontrolled Type 2 Diabetes Mellitus: A Retrospective Cohort Study.

This study investigates the relationship between vitamin D deficiency and uncontrolled type 2 diabetes mellitus (T2DM) indicated by elevated glycosylated hemoglobin (HbA1c) levels, alongside assessing the association between fasting C peptide levels and uncontrolled T2DM, considering their roles in ß-cell function and insulin secretion. The study employs a cohort design, selecting individuals diagnosed with T2DM aged 18 years or older with baseline data on vitamin D, fasting C peptide, and HbA1c. Data were collected through electronic medical records and follow-up assessments at regular intervals. Binary logistic regression analyses were conducted to explore associations between exposure variables and uncontrolled T2DM. Significant associations were observed between vitamin D and C peptide levels with uncontrolled diabetes, with coefficients of -0.097 and -0.222, respectively. Higher vitamin D and C peptide levels are linked to a decreased likelihood of uncontrolled diabetes. In conclusion, there is a potential connection between vitamin D levels, C peptide levels, and uncontrolled diabetes mellitus (HbA1C > 7%), while higher levels of both vitamin D and C peptide appeared to correlate with a decreased likelihood of uncontrolled diabetes.

Impact of electronic health services on patient satisfaction in primary health care centers in Southwestern Saudi Arabia.

Background: Electronic health service (EHS) offers computerized medical knowledge, electronic patients' information, and telecommunications. The field of EHS has grown exponentially in the last decade, especially during and after the coronavirus disease 2019 pandemic; therefore, it is important to evaluate its impact on patient satisfaction. Study Aim: To evaluate the effect of EHS on patient satisfaction at the primary care centers (PHCCs) in Abha, southwestern Saudi Arabia. Materials and Methods: This study was a questionnaire-based analytical cross-sectional study that was conducted in PHCCs, Abha city, southwestern Saudi Arabia. The study used an adapted questionnaire to assess patient satisfaction of EHS. We used the Statistical Package for Social Sciences version 26 for data entry, scoring, and analysis. Results: The study included 249 participants, of whom 53% were males. Married participants comprised 69.5% of respondents. The most frequent electronic application used is Sehhaty (88.8%), and most of the applicants preferred it as well (73.5%). The majority of participants agree that they are satisfied with the care they received during the visit (71.5%). Females showed greater satisfaction levels, but the holders of higher educational degrees are less satisfied with EHS. Conclusion: In conclusion, the study results suggest that the implementation of EHS in PHCCs located in the southwestern region of Saudi Arabia can lead to an increase in patient satisfaction. Thus, it is recommended that health care providers encourage the use of EHS as a means to enhance patient satisfaction and alleviate issues related to physical visits. More studies are needed to evaluate the impact of electronic health services on other levels of health care across the kingdom and to specific populations as well.

Maternal Exposure to Stress During Covid-19 and Non-Syndromic Orofacial Clefts: A Cohort Retrospective Study.

OBJECTIVE: The coronavirus (COVID-19) pandemic presents an opportunity to study stress's effect on the development of non-syndromic orofacial clefts (NSOFCs). This study was aimed at assessing maternal stress exposure during the pregestational to first trimester pregnancy periods and the development of NSOFCs during a year of the COVID-19 pandemic. DESIGN: Cohort study of infants with NSOFCs and controls matched based on recruitment site and age. SETTING: Government hospitals in Saudi Arabia between November 2020 and November 2021. MAIN OUTCOME MEASURES: Data collection included NSOFC clinical examination and maternal stress exposure assessment using the Modified Life Events Questionnaire, the Fear of COVID-19 Scale, and a focus on the lack of pregnancy planning and a threatened miscarriage. RESULTS: Of the 557 infants recruited, 191 had NSOFCs. Logistic regression analysis with adjusted odds ratios (AORs) that removed the effects of confounders showed that any of the seven stressful life events (AOR:3.78, P < .001) and the family histories of relatives with NSOFCs (AOR:9.73, P < .001) increased the AOR for NSOFC development. In contrast, maternal folic acid (AOR:0.56, P.010), threatened miscarriage (AOR:0.17, P = .001), fear of COVID-19 (AOR:0.83, P = .038), and suspected COVID-19 infection (AOR:0.43, P = .008) decreased the AOR for NSOFC development. CONCLUSION: Along with an established risk associated with family history of birth defects, stressful life events may be a risk factor for NSOFC development. Beyond folic acid's known benefit, it may be that higher maternal health concerns contribute to increased protective health behaviors during pregnancy. Ongoing research is needed to specify the maternal risk factors for NSOFC.

Soft and energy drinks consumption and associated factors in Saudi adults: a national cross-sectional study.

Introduction: The consumption of soft and energy drinks poses a significant risk for non-communicable diseases, such as diabetes and heart disease. Studies in Saudi Arabia have reported elevated consumption of soft/energy drinks, but nation-wide data is not available. Therefore, this study aims to explore the prevalence of soft and energy drinks consumption and its associated factors among a representative sample of Saudi adults. Methods: The present research is a secondary data analysis of the 2021 Sharik Diet and Health National Survey (SDHNS). Current analysis used data on socio-demographics, anthropometrics, physical activity, and soft and energy drink consumption. The frequency of soft and energy drinks consumption is assessed on a weekly basis. Results: Of the 5,194 Saudi adults, 3,928 were analyzed. Overall, 67% consumed soft drinks weekly, while 30% consumed energy drinks weekly. In multiple logistic regression, consumption of either soft drinks or energy drinks was associated with males, a younger age, lower income, and lower physical activity. Individuals with overweight or obesity were less likely to consume energy drinks [OR (95%CI): 0.83 (0.71, 0.99) and 0.73 (0.60, 0.90), respectively] than those with healthy weight. However, education level was not associated with either soft or energy drink consumption. These findings highlight the need for targeted interventions designed to reduce soft and energy drinks consumption in Saudi adults.

TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.

Iron-refractory iron deficiency anemia (IRIDA) is considered an autosomal recessive iron deficiency anemia due to mutations in the transmembrane protease serine 6 (TMPRSS6) gene. Variations in iron parameters and a higher risk of iron deficiency have been linked to the TMPRSS6 mutations. Furthermore, human genome-wide association studies (GWAS) identified a common mutation (rs855791) linked to abnormal hematological parameters, highlighting the importance of the TMPRSS6 gene in the regulation of iron homeostasis. This is the first study to investigate TMPRSS6 gene mutation in six Saudi families of probands with iron deficiency anemia unresponsive to oral iron and partially responsive to parenteral iron administration. Each participant provided a vacutainer tube with three blood samples (2.5 ml each) and analyzed based on hematological, biochemical iron profiles, and followed by genotyping by PCR. The TMPRSS6 gene was amplified, sequenced, and analyzed in all probands and family members. Statistical analysis was done using SPSS and SHEsis software. Few functional mutations in these families were suggested (p.W73X, p.E523K and p.V736A). The proband of family 6 presented numerous hematological abnormalities upon initial consultation, including normocytic anemia accompanied by low Hb, normal MCV, low serum iron, low serum ferritin, and normal TIBC. While the p.W73X variant was only found in 2 families, the p.V736A variant was found in all examined Saudi families with IRIDA. Given the evidence outlined for these six cases, future genotype-phenotype correlation studies in a large number of IRIDA patients in Saudi Arabia may be very informative for patient management, in addition to increasing knowledge of TMPRSS6 function during development as well as factors in the regulation of TMPRSS6 and its effect on iron levels in the body.

Parental Willingness for COVID-19 Vaccination among Children Aged 5 to 11 Years in Riyadh City, Saudi Arabia: A Cross-Sectional Study.

To manage the COVID-19 outbreak, the WHO recommends adult and child vaccination. Vaccine skepticism has been a major worldwide health concern for decades, and the situation is worsening. The primary purpose of this study was to investigate parental willingness to vaccinate their children (aged 5 to 11 years) against COVID-19 and to describe its relationship with attitude, barriers, facilitators, and sources of knowledge regarding the vaccine. Methods: From February to March 2022, a community-based cross-sectional survey was undertaken among the parents of Riyadh city, Saudi Arabia. We employed a convenient sampling procedure to gather the required sample. Using the Raosoft sample size calculator, a minimum sample size of 385 was determined based on a 95% confidence level, a 5% margin of error, and a 5% precision level. The data were analyzed using version 26 of SPSS. A p-value less than 0.05 was judged statistically significant. The Chi-square test and likelihood ratio were utilized to describe the relationship between socio-demographic characteristics, driving factors, and COVID-19 vaccine hesitancy. Vaccine hesitancy associated factors were identified using multivariate binary logistic regression. A total of 528 replies were received. The majority of respondents were mothers (77.7%), aged 26 to 40 years (67.8%), married (91.5%), Saudi nationals (96.2%), college graduates (70.6%), with a monthly family income of more than SAR 10,000 (46.4%), non-healthcare professionals (84.7%), employed in the government sector (33.7%), with three children (23.3%), and children aged 5 to 11 years (88.7%). A little more than half of the parents (55.7%) exhibited considerable vaccination hesitancy. About 16.28% of parents were willing to vaccinate their children as soon as possible, compared to 38.44% who had no interest whatsoever in vaccination. A greater proportion of mothers and unemployed parents were unwilling to vaccinate their children. Parents with a higher monthly income (above SAR 10,000), who worked as healthcare professionals, and whose children suffered from chronic conditions were significantly more ready to vaccinate their children against COVID-19. Parents who were aware of anti-vaccination campaigns and who vaccinated their children with required childhood vaccines were also much more likely to vaccinate their children against COVID-19. Most parents (66.9%) obtained information on COVID-19 via the Saudi Ministry of Health website, followed by social media (48.1%). The vaccine's novelty and the dearth of reliable information about its safety (65%) and insufficient information about its effectiveness (36.2%) were the primary reasons for not vaccinating children against COVID-19, whereas preventing children from contracting COVID-19 (55.9%) and government mandate (38.8%) were the primary reasons for vaccinating children against COVID-19. Conclusions: There was significant parental hesitancy to immunize their children against COVID-19. To involve and educate parents, multi-component interventions must be developed and implemented.

Prevalence, Perception, and Practice, and Attitudes Towards Self-Medication Among Undergraduate Medical Students of Najran University, Saudi Arabia: A Cross-Sectional Study.

BACKGROUND: Self-medication (SM) is a customary practice around the globe. Appropriate SM comes with many advantages, yet irrational SM is a concern and could lead to adverse drug events and poor health outcomes. METHODS: This college-based cross-sectional study was carried out from January to March 2021 among Najran University undergraduate medical students to investigate the prevalence and practice of, and attitudes towards SM. Data were collected using a bilingual self-administered online questionnaire, which was categorized into sections, such as socio-demographic details, attitude towards SM, and practice of SM during the last six months, along with students' opinions and suggestions regarding SM. The three-item scale was used to assess the students' attitude. IBM SPSS was used to perform the cross-tabulation, chi-squared test, and binary logistic regression. RESULTS: Overall, 205 undergraduate medical students (58.6%) responded to the survey. The overall prevalence of SM was 60%, of which 25% used antibiotics as SM drugs. Headache (65.9%), fever (30.2%), cold/flu (31.2%), and gastric acidity (28.3%) were common illnesses for which SM was sought, using analgesics and NSAIDs (52.7%), antipyretics (13.7%), and antacid (12.7%) medications. Among the reasons for SM, the illness being minor and quick relief were frequently reported. To rationalize and improve the practice of SM, about half (48.3%) of the students suggested spreading awareness and education regarding the implications of SM and dispensing the medications with prescriptions (46.8%). CONCLUSION: Overall, the attitude towards SM was satisfactory. The prevalence of SM during the last six months was 60%, and antibiotics were used by 25% of students. A significant negative correlation was observed between attitudes towards and practice of SM. Although medical students of Najran University displayed responsible behavior towards SM, efforts should be made to educate them about the adverse consequences of SM, especially with antibiotics.

Athletes' knowledge and attitude concerning the meniscus, meniscal injury, and management.

Introduction: Knee injuries largely vary including cartilaginous, ligamentous, bony, and tendinous injuries. Greatest of the reported knee injuries associated with in a non-contact method includes mainly the anterior cruciate ligament (ACL). Additionally, medial and lateral menisci act as shock absorbers with an additional role in stabilizing the joint which can be or partially or totally torn. The current study aimed to assess athletes' knowledge and attitude concerning the meniscus, meniscal injury, and management. Methodology: A descriptive cross-sectional study was conducted to achieve the objectives. A pre-structured electronic questionnaire was used to collect the data, covered participants socio-demographic data, personal and family history of meniscus injury and surgery, physical activity during past year, and also knowledge regarding the meniscal injury and management. Results: A total of 448 athletes fulfilling the inclusion criteria completed the study questionnaire. Participants 'age ranged from 18 to 60 years with mean age of 26.7 ± 7.7 years old. A total of 256 (57.1%) participants were males. Exact of 21 participants had meniscus surgery. As for family history, 75 (16.7%) had family history of meniscus injury. Exact of 95 (21.2%) athletes had good knowledge level, while vast majority (78.8%; 353) had poor knowledge level. Conclusions: In conclusion, the study showed that the estimated rate of meniscus injury and surgery was not high (within the international range). The participants' knowledge regarding meniscus injury and meniscus surgery with its related management was unsatisfactory, where 1 out of each 5 was knowledgeable.

Food Taste, Dietary Consumption, and Food Preference Perception of Changes Following Bariatric Surgery in the Saudi Population: A Cross-Sectional Study.

BACKGROUND: Bariatric surgery is known as the most effective treatment resulting in long-term weight loss for obesity. However, behavioral changes, including food preference, food allergies, and consumption, between groups of patients who underwent bariatric surgery in comparison with people who did not have bariatric surgery have not been fully discussed in the literature. OBJECTIVE: The aim of this article is to describe patient-reported changes of perception related to food preferences, consumption, and food allergies in participants who underwent bariatric surgery and to compare their food consumption with participants who did not have bariatric surgery in Saudi Arabia. METHODOLOGY: This study is a secondary analysis of the Sharik Diet and Health National Survey (SDHNS) conducted in July 2021. Quota sampling was utilized to generate balanced distributions of participants by age and gender across all administrative regions of Saudi Arabia. Data collection included sociodemographic information (age, gender, and educational level), as well as food habits and the consumption of various food categories. RESULTS: Of the 6267 potential participants contacted in 2021 from the 13 administrative regions of Saudi Arabia, 5228 successfully completed the interview, with a response rate of 83.4%. Gender was distributed equally among the total participants in the sample. The prevalence of bariatric surgeries in Saudi Arabia was estimated at around 4.1% of the total sample. More than 36% of people who had bariatric surgery experienced food taste changes, and around 15% reported a decrease in allergic reactions to food. Moreover, 68.1% had food preference changes, either starting to favor a new food or no longer favoring one. There was a significant association between consuming more red meat, chicken, and energy drinks and a decreased consumption of grains and rice among those who had the bariatric surgery compared with those who did not. CONCLUSIONS: This study found that more than two-thirds of people who had bariatric surgery self-reported food taste and food preference changes. More studies should be performed on the Saudi population, including clinical follow-up, to better understand these changes.

Exploring Weight Stigma in Saudi Arabia: A Nationwide Cross-Sectional Study.

BACKGROUND: Weight stigma (WS) in the Middle East, especially in Saudi Arabia, is widely ignored. People with obesity are blamed for their weight, and there is a common perception that weight stigmatization is justifiable and may motivate individuals to adopt healthier behaviors. The authors of this study aimed to explore WS prevalence and factors associated with WS in a large nationwide study of Saudi Arabian adults. METHODS: This study was a nationwide cross-sectional survey conducted via phone interviews in June 2020. A proportional quota-sampling technique was adopted to obtain equal distributions of participants by age and sex across the 13 regions of Saudi Arabia. In total, 6239 people were contacted, and 4709 (75.48%) responded and completed the interview. The authors of the study collected data about WS using the Arabic Weight Self-Stigma Questionnaire (WSSQ), BMI, smoking, nutritional knowledge, bariatric surgery, risk of depression, and demographic variables. RESULTS: Participants had a mean age of 36.4 ± 13.5 (18-90), and 50.1% were female. The prevalence of higher WS was 46.4%. Among other risk factors, there was a significant association between WS and obesity (odds ratio (OR): 3.93; 95% CI: 2.83-5.44; p < 0.001), waterpipe smoking (OR: 1.80; 95% CI: 1.20-2.69; p < 0.001), bariatric surgery (OR: 2.07; 95% CI: 1.53-2.81; p < 0.001), and risk of depression (OR: 1.68; 95% CI: 1.36-2.09; p < 0.001). CONCLUSION: This was the first study to explore WS and its associated factors among adults in a community setting in Saudi Arabia. This study revealed some risk factors associated with WS that may help to identify people at risk of WS and to develop interventions to reduce WS, such as improving nutritional knowledge, correcting the ideas about bariatric surgery and obesity in general, and ceasing waterpipe smoking.

Perception of premarital counseling among King Khalid University students.

BACKGROUND: Genetic blood disorders are common in Arab countries which are related to many physical and mental disorders. Premarital counseling has been one of the strongest ways to prevent hereditary diseases. It can provide a capability to intervene according to identified risks, vaccinations, genetic consulting, nutrition, consulting regarding behavior and advice regarding contraception. This study aimed to assess university students' knowledge, attitude and practice of pre-marital counseling (PMC) in king Khalid University. METHODOLOGY: A cross-sectional study was conducted at King Khalid University in Abha city from May to August 2018. The students were selected using two stage stratified cluster sampling technique (medical and non-medical). A total sample of 541 students were included. A structured questionnaire with close-ended questions was designed by the authors following an extensive review of the literature on knowledge, practice, and attitude of premarital screening program. The questionnaire was developed in English and then translated to Arabic by experts at the College of Medicine. RESULTS: A total sample of 541students were involved with ages ranged from 18 years to 27 years old and 56.6% at medical colleges. Exact 73.4% of the students were aware of PMC and 95.2% reported its importance. 96.5% of the students reported their welling to do PMC on marriage and 72.1% see that it should be mandatory. CONCLUSIONS: Nearly three out of each four students had good awareness level regarding PMC. Most of the students have a positive attitude towards PMS and their readiness to adopt the counseling before marriage.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation. METHODS: Genome-wide linkage analysis using Affymetrix GeneChip Human Mapping 10K arrays were performed in three cochlear implanted Saudi siblings born from a consanguineous marriage, clinically diagnosed with USH1 by comprehensive clinical, audiological, and ophthalmological examinations. From the linkage results, the USH1G gene was screened for mutations by direct sequencing of the coding exons. RESULTS: We report the identification of a novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype and was not present in 300 ethnically matched normal controls. We also report on the novel retinal findings and the outcome of cochlear implantation in the affected individuals. CONCLUSIONS: In addition to reporting a novel truncating mutation, this report expands the retinal phenotype in USH1G and presents the first report of successful cochlear implants in this disease.