Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-lingual ancestry in or near Ibadan, Nigeria, that had at least one individual with nonsyndromic, severe-to-profound, prelingual-onset, bilateral hearing loss not attributed to nongenetic factors. We performed a combination of exome and Sanger sequencing analyses to evaluate both nuclear and mitochondrial genomes. No biallelic pathogenic variants were identified in GJB2, a common cause of deafness in many populations. Potential causative variants were identified in genes associated with nonsyndromic hearing loss (CIB2, COL11A1, ILDR1, MYO15A, TMPRSS3, and WFS1), nonsyndromic hearing loss or Usher syndrome (CDH23, MYO7A, PCDH15, and USH2A), and other syndromic forms of hearing loss (CHD7, OPA1, and SPTLC1). Several rare mitochondrial variants, including m.1555A>G, were detected in the gene MT-RNR1 but not in control Yoruba samples. Overall, 20 (33%) of 60 independent cases of hearing loss in this cohort of families were associated with likely causal variants in genes reported to underlie deafness in other populations. None of these likely causal variants were present in more than one family, most were detected as compound heterozygotes, and 77% had not been previously associated with hearing loss. These results indicate an unusually high level of genetic heterogeneity of hearing loss in Ibadan, Nigeria and point to challenges for molecular genetic screening, counseling, and early intervention in this population.

Hearing healthcare gaps in LMICS: snapshot from a semi-urban community in Nigeria.

BACKGROUND: Low and middle-income countries (LMICs) have high prevalence of hearing loss which are mainly due to preventable causes. While urban communities in LMICs are likely to have functional hearing healthcare delivery infrastructure, rural and semi-urban communities may have different reality. OBJECTIVES: This study aimed to provide: (i) a snapshot of the burden of ear diseases and (ii) a description of available hearing healthcare resources in a semi-urban Nigerian community. METHODS: A cross-sectional study of households selected by multistage random sampling technique. Seventy-four participants: 39 males and 35 females with mean age of 34 years ± 5.24 were recruited and answered a structured questionnaire. In addition, the availability of hearing healthcare services in 15 health centers within the community were determined. RESULTS: All participants reported recent occurrence of ear complaints or gave similar history in a household member. Common complaints were ear discharge, ear pain and hearing loss. Medical intervention was sought from patent medicine stores, hospitals and traditional healers. None of the assessed hospitals within the study site was manned by an ENT surgeon or ENT trained nurse. CONCLUSION: Despite the heavy burden of ear complaints there is inadequate hearing healthcare delivery in a typical LMIC community. This highlights the need for urgent improvement of hearing healthcare.

Nasopharyngeal carcinoma in Ibadan, Nigeria: a clinicopathologic study.

INTRODUCTION: nasopharyngeal carcinoma is relatively common in our environment. It is one of the most difficult malignancies to diagnose at an early stage. The aim of the study was to determine the clinical features, clinical disease stage of nasopharyngeal carcinoma at presentation and at diagnosis as well as the histologic types at the University College Hospital, Ibadan, Nigeria. METHODS: this was a ten year retrospective study of all histologically confirmed nasopharyngeal carcinoma between January 2007 to December 2016 using clinical and pathology records and files. RESULTS: there were 73 cases. The male: female ratio was 1.7. The age of patients ranged from 12 to 80 years with a mean age of 39 ± 16 years. The median age at diagnosis was 40 years. The peak age group of occurrence was 40-49 years. The most common symptoms were namely epistaxis in 67.1% of patients at presentation, neck mass/swelling (64.4%) and nasal mass/obstruction (63.0%). Majority (54.8%) of the patients presented late with stage 3 or 4 disease. Most (94.5%) of the tumours were of the non-keratinizing squamous cell carcinoma subtype. The keratinizing and basaloid variants accounted for 4.1% and 1.4% of the tumours respectively. CONCLUSION: vague, non-specific symptoms make patients present at late stages of the disease, making it almost impossible to attempt cure. The dominant histopathological type is non-keratinizing squamous cell carcinoma and resembles that seen in most parts of Nigeria and endemic areas of the world.

Pediatric Hearing Thresholds Post-bacterial Meningitis.

Introduction: Disabling hearing loss as a sequela of bacterial meningitis results from damage to the auditory system. This study was designed to ascertain the hearing thresholds in survivors of bacterial meningitis and the risk factors of hearing loss in childhood bacterial meningitis. Methodology: One hundred and two children admitted and treated for bacterial meningitis were recruited prospectively along with 102 age- and sex-matched controls who had auditory evaluation using otoacoustic emission and auditory brain stem response tests 48 h prior to hospital discharge. This was also repeated at the follow-up clinic at 1 month after hospital discharge, irrespective of the initial hearing assessment results. Result: There were 57 (55.9%) males and 45 (44.1%) females among the cases (mean age, 5.34 ± 4.40 years) and 55 (53.9%) males and 47 (46.1%) females among the controls (mean age, 5.31 ± 3.15 years). The prevalence of hearing loss was 30.4% among the cases, while it was 6.9% among the controls. The risk factors of hearing impairment in this study were the presence of anemia, leukocytosis, and hypoglycorrhachia. Conclusion: Hearing impairment with varying degrees of severity is a frequent complication of bacterial meningitis in children.

The Yoruba version of LittlEARS Auditory Questionnaire: Evaluation of auditory development in children with normal hearing.

The goal of this study was to translate the LittlEARS Auditory Questionnaire into Yoruba language for use with Yoruba-speaking parents and to evaluate the psychometric properties of the Yoruba version of questionnaire. Translation of the LittlEARS Auditory Questionnaire into Yoruba language was done using a back-translation method. The study participants included 423 parents of normal hearing children aged 6-24 months. Psychometric analyses (scale analysis and item analysis) of the translated questionnaire was done. The scale characteristics in the dataset are: Internal consistency: Cronbach's alpha = 0.907; reliability; Split-half = 0.701; predictive accuracy; Guttman's lambda = 0.583; correlation between total score and children's age = 0.783. The regression analysis showed that 75.3% of the variance in the total scores can be explained by age. The Yoruba version of the LittlEARS Auditory Questionnaire is a dependable and valid tool as evidenced by the results of psychometric analyses. The tool is useful for assessing auditory development in children between 6 and 24 months of age.

Quality of life of deaf and hard of hearing students in Ibadan metropolis, Nigeria.

Quality of Life encompasses an individual's well-being and health, social participation and satisfaction with functional daily living. Disabilities such as deafness can impact on the quality of life with spatial variance to the environment. Deafness causes communicative problems with significant consequences in cognitive, social, and emotional well-being of affected individuals. However, information relating to the quality of life of deaf and hard of hearing individuals, especially students in developing countries like Nigeria, which could be used to design special health-related interventions is sparse. This study examined the quality of life of deaf and hard of hearing students in Ibadan metropolis, Nigeria. One hundred and ten deaf and hard of hearing students participated in this cross-sectional study. Participants were drawn from all four secondary schools for the Deaf in Ibadan metropolis. The 26 item Brief version of the WHO Quality of Life questionnaire was used for data collection. The data was analyzed using descriptive and inferential statistics at statistical significance of p<0.05. Majority (57.8%) of the deaf and hard of hearing students had poor quality of life. Attending the special school for the Deaf, upper socio-economic status and age (≥17years) are significantly associated with better quality of life. However, gender and age at onset of hearing loss had no significant influence on the quality of life. The Deaf community available in the special school appeared to protect against stigma and discrimination, while also promoting social interactions between deaf and hard of hearing individuals.

Mothers' perspectives of newborn hearing screening programme.

BACKGROUND: Newborn hearing screening programs identifies newborns with hearing loss. The early identification enables prompt intervention through hearing rehabilitation. Accurate knowledge of the program and its benefit will impact on the uptake of the program by the citizenry. We hypothesized that there is a gap in the knowledge of parents on hearing screening and rehabilitation measures in Nigeria. AIM: To determine the knowledge and perceptions of mothers of newborn children on hearing screening. METHODS: A cross sectional observational study among mothers of newborn children at immunization clinics. Semi structured questionnaire on gestational duration, mode of delivery, birth asphyxia, knowledge on hearing loss and newborn hearing screening were administered. RESULTS: Participants were 48 mothers with age range from 18 to 42 years. Awareness of newborn hearing screening was poor among the mothers; sources of information on newborn hearing screening were antenatal clinic, mass media and friends. The educational level of the participants had no association with awareness (p = 0.11), but the willingness to accept newborn hearing screening, was associated with socioeconomic status (p = 0.04) and the level of education (p = 0.02). The participants were not aware of factors responsible for hearing loss in childhood. CONCLUSION: There is inadequate knowledge about newborn hearing screening and risk factors for infant hearing loss among the mothers, though they demonstrate willingness to accept the newborn hearing screening. FUNDING: None declared.

Study of streptomycin-induced ototoxicity: protocol for a longitudinal study.

Hearing impairment is due to various causes including ototoxicity from aminoglycosides. The susceptibility to aminoglycosides increases in the presence of certain mitochondria gene mutations. There is unrestrained use of aminoglycosides in many developing nations which may worsen the burden of hearing impairment in these countries but there is lack of data to drive required policy changes. Streptomycin (an aminoglycoside) is part of the drug regimen in re-treatment of tuberculosis. Exploring the impact of streptomycin ototoxicity in tuberculosis patients provides a unique opportunity to study aminoglycoside ototoxicity within the population thus providing data that can inform policy. Also, since streptomycin ototoxicity could adversely affect treatment adherence in tuberculosis patients this study could enable better pre-treatment counseling with subsequent better treatment adherence. Patients on tuberculosis re-treatment will be recruited longitudinally from Direct Observation Therapy-Short course centers. A baseline full audiologic assessment will be done before commencement of treatment and after completion of treatment. Early detection of ototoxicity will be determined using the American Speech and Hearing Association criteria and genetic analysis to determine relevant mitochondria gene mutations will be done. The incidence of ototoxicity in the cohort will be analyzed. Both Kaplan-Meier survival curve and Cox proportional hazards tests will be utilized to determine factors associated with development of ototoxicity and to examine association between genotype status and ototoxicity. This study will provide data on the burden and associated predictors of developing aminoglycoside induced ototoxicity. This will inform public health strategies to regulate aminoglycoside usage and optimization of treatment adherence and the management of drug-induced ototoxicity among TB patients. Furthermore the study will describe mitochondrial gene mutations associated with ototoxicity in the African population.

Traumatic brain injuries in children: A hospital-based study in Nigeria.

BACKGROUND: Traumatic Brain Injury (TBI) is a significant cause of morbidity and mortality worldwide. Our previous studies showed a high frequency of motor vehicle accidents among neurosurgical patients. However, there is a dearth of data on head injuries in children in Nigeria. AIMS: To determine the epidemiology of paediatric traumatic brain injuries. SETTING AND DESIGN: This is a prospective analysis of paediatric head trauma at the University of Benin Teaching Hospital, a major referral centre for all traumatic brain injuries in Nigeria between October 2006 and September 2011. MATERIALS AND METHODS: We studied the demographic, clinical and radiological data and treatment outcomes. Data was analysed using statistical package for the social sciences (SPSS) 16.0. RESULTS: We managed 127 cases of paediatric head injuries, 65 boys and 62 girls representing 13% of all head injuries managed over the 5-year period. They were aged 3 months to 17 years. The mean age was 7.4 years (median 7 years) with peak incidence occurring at 6-8 years i.e. 31 (24.4%) cases. Motor vehicle accidents resulted in 67.7%, falls 14% and violence 7%. The most frequent computed tomography finding was intracerebral haemorrhage. Mean duration of hospitalization was 18 days (median 11 days). Eleven patients died, mortality correlating well with severity and the presence of intracerebral haematoma. CONCLUSION: Head injuries in children are due to motor vehicle and motor vehicle-related accidents. Hence, rational priorities for prevention of head injuries in children should include prevention of vehicular, especially pedestrian, accidents in developing countries.

Asynchronous video-otoscopy with a telehealth facilitator.

OBJECTIVE: The study investigated whether video-otoscopic images taken by a telehealth clinic facilitator are sufficient for accurate asynchronous diagnosis by an otolaryngologist within a heterogeneous population. SUBJECTS AND METHODS: A within-subject comparative design was used with 61 adults recruited from patients of a primary healthcare clinic. The telehealth clinic facilitator had no formal healthcare training. On-site otoscopic examination performed by the otolaryngologist was considered the gold standard diagnosis. A single video-otoscopic image was recorded by the otolaryngologist and facilitator from each ear, and the images were uploaded to a secure server. Images were assigned random numbers by another investigator, and 6 weeks later the otolaryngologist accessed the server, rated each image, and made a diagnosis without participant demographic or medical history. RESULTS: A greater percentage of images acquired by the otolaryngologist (83.6%) were graded as acceptable and excellent, compared with images recorded by the facilitator (75.4%). Diagnosis could not be made from 10.0% of the video-otoscopic images recorded by the facilitator compared with 4.2% taken by the otolaryngologist. A moderate concordance was measured between asynchronous diagnosis made from video-otoscopic images acquired by the otolaryngologist and facilitator (κ=0.596). The sensitivity for video-otoscopic images acquired by the otolaryngologist and the facilitator was 0.80 and 0.91, respectively. Specificity for images acquired by the otolaryngologist and the facilitator was 0.85 and 0.89, respectively, with a diagnostic odds ratio of 41.0 using images acquired by the otolaryngologist and 46.0 using images acquired by the facilitator. CONCLUSIONS: A trained telehealth facilitator can provide a platform for asynchronous diagnosis of otological status using video-otoscopy in underserved primary healthcare settings.

Traumatic brain injuries in children: a hospital-based study in Nigeria

The most frequent computed tomography finding was intracerebral haemorrhage. Mean duration of hospitalization was 18 days (median 11 days). Eleven patients died; mortality correlating well with severity and the presence of intracerebral haematoma. Conclusion: Head injuries in children are due to motor vehicle and motor vehicle-related accidents. Hence; rational priorities for prevention of head injuries in children should include prevention of vehicular; especially pedestrian; accidents in developing countries.Background: Traumatic Brain Injury (TBI) is a significant cause of morbidity and mortality worldwide. Our previous studies showed a high frequency of motor vehicle accidents among neurosurgical patients. However; there is a dearth of data on head injuries in children in Nigeria. Aims: To determine the epidemiology of paediatric traumatic brain injuries. Setting and Design: This is a prospective analysis of paediatric head trauma at the University of Benin Teaching Hospital; a major referral centre for all traumatic brain injuries in Nigeria between October 2006 and September 2011. Materials and Methods: We studied the demographic; clinical and radiological data and treatment outcomes. Data was analysed using statistical package for the social sciences (SPSS) 16.0. Results: We managed 127 cases of paediatric head injuries; 65 boys and 62 girls representing 13 of all head injuries managed over the 5-year period. They were aged 3 months to 17 years. The mean age was 7.4 years (median 7 years) with peak incidence occurring at 6-8 years i.e. 31 (24.4) cases. Motor vehicle accidents resulted in 67.7; falls 14 and violence 7

Beta thalassaemiatriat in Western Nigeria

Background: Genes for thalassaemia; haemoglobin S; Glucose-6-phosphate dehydrogenase which confer resistance to malaria are found in high frequencies in Nigeria; 25of the population being carriers of the sickle cell trait while another 25are hemizygous for the G6PD gene. The frequency of alpha thalassaemia is equally high among Nigerians but there is little information on beta thalassaemia in this population. A recent study however suggest a high prevalence of beta thalassaemia in the same population; hence the need for this study. Methods: Haemoglobin A2 and HbF were determined in healthy adults who have haemoglobin A genotype by elution after electrophoresis and alkaline denaturation methods respectively. Results: The mean HbA2 among the subjects was 3.3(range 2.0-5.6) while the mean HbF was 2.6(range 0.4-8.8). Twenty-six percent of the subjects had HbA2 values higher than 3.9while 86had HbF values greater than 1; twenty-four percent had elevated HbA2 and HbF. The mean HbA2 value was 2.7among those with HbF 1; 3.6among those with HbF 1-3and 3.1among those with HbF 3. Conclusion: These findings confirm that the frequency of beta thalassaemia in western Nigeria is higher than previously thought and that many of the individuals studied may be silent carriers of the beta thalassaemia trait. Its presence may also have been masked by the high prevalence of alpha thalassaemia in the same environment. It is therefore important to consider beta thalassaemia trait as a differential diagnosis in patients who present with haemolytic anaemia in this environment

Rhinosinusitis; a potential hazard of nasogastric tube insertion.

The nasogastric tube has been used frequently for enteral feeding and as an intranasal oxygen catheter. This practice is however associated with complications. We present a case of rhinosinusitis and sepsis in a diabetic patient following the insertion of a nasogastric tube. Physicians should be aware of sinusitis as a possible cause of sepsis in patients with nasogastric tube insertion.