Explanatory models for the cause of Fragile X Syndrome in rural Cameroon.

Among the myriad causes of intellectual disability (ID), Fragile X Syndrome (FXS) is the leading genetic cause. Yet, little is known of how people affected by this condition make sense of it. The present study aimed to investigate the explanatory models for the causes of FXS in an extended family mainly affected by this condition and members of the village from which they originated in Cameroon. Using an ethnographic approach, 92 participants were interviewed (59 females and 33 males) through 10 focus group discussions and 23 in-depth interviews between April 2018 and February 2020. Data analysis revealed four explanatory models regarding the etiologies of FXS in the community. Firstly, the curse model described a curse from the chief because of the belief that his wives did not mourn his intellectually disabled servant. Secondly, the spiritual model relates FXS to a punishment from God. Thirdly, the socioeconomic model attributes FXS to events in the prenatal and perinatal periods. Finally, the genetic model describes the pattern of inheritance of the disease in the family. This paper helps to understand the explanatory disease models that exist for FXS in rural Cameroon and could inform genetic counseling practices, community genetic education, and policymakers when drafting protocols for public engagement activities.

Decrease in Hospitalizations and Increase in Deaths during the Covid-19 Epidemic in a Pediatric Hospital, Yaounde-Cameroon and Prediction for the Coming Months.

BACKGROUND: The COVID-19 pandemic reached Cameroon in March, 2020. The aim of this study was to unveil the consequences of this pandemic on hospitalizations and on mortality in a pediatric hospital. Methods: A descriptive and retrospective cross-sectional study was carried out using hospitalization and death statistics collected from a pediatric hospital. We compared the data before and after the pandemic and made predictions for the next 12 months. Results: A drastic drop in hospitalizations was noted coinciding with the partial lockdown in Cameroon. Paradoxically, at the same time, the number of deaths per month doubled though the causes remained the same as in the past. Conclusion: The COVID-19 pandemic was marked by drop in hospitalizations and paradoxically, an increase in child mortality. These deaths were probably due not to SARS-Cov-2 infection, but rather due to the usual illnesses whose management was delayed, a probable consequence of the confinement.

MECP2 duplication syndrome in a patient from Cameroon.

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families. Features of MDS in individuals of African descent are not well known. Here, we describe a male patient from Cameroon, with MDS caused by an inherited 610 kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM, and SLC6A8. This report supplements the public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent.

Birth weight and renal markers in children aged 5-10 years in Cameroon: a cross-sectional study.

BACKGROUND: A relationship exists between birth weight (BW) and glomerular filtration rate (GFR) in postnatal kidney. Willing to fill a gap of knowledge in sub-Saharan Africa, we assessed the effect of BW on blood pressure (BP), proteinuria and GFR among Cameroonians children. METHODS: This was a cross-sectional hospital-based study from January to April 2018 at the Yaounde Gynaeco-Obstetric and Paediatric Hospital (YGOPH). We recruited low BW (LBW) [< 2500 g], normal BW (NBW) [2500-3999 g] and high BW (HBW) [> 4000 g] children, aged 5-10 years, born and followed-up at YGOPH. We collected socio-demographic, clinical (weight, height, BP), laboratory (proteinuria, creatinine), maternal and birth data. The estimated GFR was calculated using the Schwartz equation. RESULTS: We included 80 children (61.2% boys) with 21 (26.2%) LBW, 45 (56.2%) NBW and 14 (15.5%) HBW; the median (interquartile range) age was 7.3 (6.3-8.1) years and 17 (21.2%) were overweight/obese. Two (2.5%) children, all with a NBW (4.4%), had an elevated BP whereas 2 (2.5%) other children, all with a LBW (9.5%), had hypertension (p = 0.233). Seven (8.7%) children had proteinuria with 19, 2.2 and 14.3% having LBW, NBW and HBW, respectively (p = 0.051). Equivalent figures were 18 (22.5%), 14.3, 24.2 and 28.6% for decreased GFR, respectively (p = 0.818). There was a trend towards an inverse relationship between BW and BP, proteinuria and GFR (p > 0.05). CONCLUSION: Proteinuria is more pronounced in childhood with a history of LBW and HBW while LBW children are more prone to develop hypertension. Regular follow-up is needed to implement early nephroprotective measures among children with abnormal BW.

Vaccination of infants aged 0 to 11 months at the Yaounde Gynaeco-obstetric and pediatric hospital in Cameroon: how complete and how timely?

BACKGROUND: Vaccination is a major, but simple and cost effective public health intervention in the prevention of infectious diseases, especially in children. Nowadays, many children still miss scheduled vaccines in the Extended Program of Immunization (EPI) or are being vaccinated after the recommended ages.This study was aimed at assessing vaccination completeness and timeliness in children aged 0 to 11 months attending the vaccination clinic of the Yaounde Gynaeco-Obstetric and Pediatric Hospital. METHODS: This was an observational cross-sectional study over a period of 3 months (1st February to 30th April 2016). 400 mothers were interviewed and their children's vaccination booklets analyzed. Information on the children and the parents was collected using a pretested questionnaire. Data analysis was done using SPSS version 20 software. Bivariate and multivariate analysis with logistic regression was done to assess the determinants of completeness and timeliness. RESULTS: A total of 400 mother-infant pairs were sampled. The vaccination completeness rate was 96.3%. This rate varied between 99.50% for BCG and 94.36% for IPV. Most of the children were born at the Yaounde Gynaeco-Obstetric and Pediatric hospital where they were regularly receiving their vaccines. The proportion of correctly vaccinated infants was 73.3%. The most differed vaccines were BCG, PCV13 and IPV. Factors influencing immunization completeness were the father's profession and the mother's level of education. CONCLUSIONS: Despite the high immunization coverage, some children did not complete their EPI vaccines and many of them took at least one vaccine after the recommended age.

Weight-for-Height Z Score and Mid-Upper Arm Circumference as Predictors of Mortality in Children with Severe Acute Malnutrition.

Background: Mortality associated with severe acute malnutrition (SAM) could be reduced by screening malnourished children for those most vulnerable to death. We compared the weight-for-height Z score (WHZ) and mid-upper arm circumference (MUAC) as predictors of mortality in children with SAM. Methods: We conducted a retrospective study spanning over 8 years, using records of children aged 6-59 months, hospitalized for SAM and discharged alive or who died during hospitalization. Results: Area under the curve was greater for MUAC [0.809 (95% CI, 0.709-0.911, p = 0.001)] than WHZ [0.649 (95% CI, 0.524-0.774, p = 0.032)]. MUAC predicted death better [sensitivity: 95.5%, specificity: 25.0%, positive likelihood ratio (PLR): 1.27, negative likelihood ratio (NLR): 0.18] than WHZ (sensitivity: 86.4%, specificity: 21.4%, PLR: 1.10, NLR: 0.64). Best MUAC and WHZ cut-offs for predicting death (10.3 cm and -4, respectively) were most accurate in infants aged <12 months, the former being more accurate. Conclusion: MUAC predicts death better than WHZ in children with SAM.

Economic evaluation of artesunate and three quinine regimens in the treatment of severe malaria in children at the Ebolowa Regional Hospital-Cameroon: a cost analysis.

BACKGROUND: Severe malaria is a leading cause of morbidity and mortality in under-fives in sub-Saharan Africa. Recently quinine has been replaced by artesunate as the first-line drug in the treatment of severe malaria in Cameroon. Artesunate has been shown to be cost-effective in African children, but whether these findings are transferable to Cameroonian children remains to be explored. OBJECTIVES: To conduct a cost-analysis of four different regimens used in the treatment from the perspective of the healthcare payer. METHODS: An economic evaluation alongside a randomized comparative study was conducted in children aged 3 months to 15 years, admitted at the Ebolowa Regional Hospital with severe malaria due to Plasmodium falciparum. Patients were randomized to receive one of the four treatment alternatives. Group 1 (ARTES) received parenteral artesunate at 2.4 mg/kg at H0, H12, H24 and then once daily; Group 2 (QLD) received a loading dose of quinine base at 16.6 mg/kg followed 8 h later by an 8-hourly maintenance dose of 8.3 mg/kg quinine base; Group 3 (QNLD3) received 8.3 mg/kg quinine base every 8 h, and Group 4 (QNLD2) received 12.5 mg/kg quinine base every 12 h. The main outcome measure for effectiveness of treatment was the parasite reduction rate. Based on a healthcare perspective, an evaluation of direct medical costs was done, including costs of anti-malarials, nursing care materials, adjuvant treatment, laboratory investigations, hospitalisation and professional fees. Guided by a cost minimalization approach, the relative costs of these treatment alternatives was compared and reported. RESULTS: Overall cost was higher for ARTES group at $65.14 (95% CI $57.68-72.60) than for quinine groups ($52.49-$62.40), but the difference was not statistically significant. Cost of the anti-malarial drug was significantly higher for artesunate-treated patients than for quinine-treated patients, whereas cost of hospitalization was significantly lower for artesunate-treated patients than for quinine-treated patients. Incremental analysis of ARTES against QLD as a baseline resulted in an ICER of $46.8/PRR24 and suggests ARTES as the most cost effective of all four treatment options. CONCLUSION: Artesunate is a cost effective malaria treatment option relative to quinine alternatives with the lowest incremental cost per unit of effectiveness. Trial registration clinicaltrials.gov identifier: NCT02563704. Registered 19 September 2015, retrospectively registered.

A randomized trial of the efficacy of artesunate and three quinine regimens in the treatment of severe malaria in children at the Ebolowa Regional Hospital, Cameroon.

BACKGROUND: Severe malaria is a medical emergency with high mortality in children below 5 years of age especially in sub-Saharan Africa. Recently, quinine has been replaced by artesunate as the first-line drug in the treatment of severe malaria in Cameroon. No local data are yet available on the efficacy of artesunate with respect to the different quinine regimens used in this setting. This study was undertaken at the Ebolowa Regional Hospital (ERH), which is located in a region of perennial transmission of malaria. METHODS: This was a randomized, open-label trial in children aged 3 months to 15 years, admitted in the hospital with severe malaria due to Plasmodium falciparum confirmed on microscopy after informed parental consent. Patients were randomized into four groups. Group 1 (ARTES) received parenteral artesunate at 2.4 mg/kg at H0, H12, H24 and then once daily; Group 2 (QLD) received a loading dose of quinine base at 16.6 mg/kg followed 8 hours later by an eight-hourly maintenance dose of 8.3 mg/kg quinine base; Group 3 (QNLD3) received 8.3 mg/kg quinine base every 8 hours; and, Group 4 (QNLD2) received 12.5 mg/kg quinine base every 12 h. All patients invariably received a minimum of 24 h parenteral treatment, then, oral drugs were prescribed. The endpoints were fever clearance time, time to sit unsupported, time to eat, parasite clearance time, and parasitaemia reduction rate at H24. Survival analysis was used to compare the outcomes. RESULTS: One-hundred and sixteen patients completed the study: 29 in ARTES arm, 28 in QLD arm, 30 in QNLD3 arm, and 29 in QNLD2 arm. There was no major differences in baseline characteristics in the treatment groups. On analysis of endpoints, fever clearance time and parasite clearance time were significantly shorter for artesunate-treated patients than for quinine-treated patients. Parasitaemia reduction rate at H24 was also significantly higher for artesunate. Time to sit unsupported and time to eat were shorter with artesunate, but the difference was not statistically significant. CONCLUSION: Artesunate is more effective than quinine in the treatment of severe malaria in Cameroonian children.

Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review.

Background: The integration of genetic services into African healthcare systems is a multifaceted endeavor marked by both obstacles and prospects. This study aims to furnish evidence-based recommendations for policymakers and healthcare entities to facilitate the effective assimilation of genetic services within African healthcare systems. Methods: Employing a scoping review methodology, we scrutinized peer-reviewed studies spanning from 2003 to 2023, sourced from PubMed, Scopus, and Africa-wide databases. Our analysis drew upon eight pertinent research studies conducted between 2016 and 2023, encompassing diverse genetic topics across six African nations, namely Cameroon, Kenya, Nigeria, Rwanda, South Africa, and Tanzania. Results: The reviewed studies underscored numerous challenges hindering the implementation of genetic services in African healthcare systems. These obstacles encompassed deficiencies in disease awareness and education, impediments to genetic testing, resource scarcities, ethical quandaries, and issues related to follow-up and retention. Nevertheless, the authors also identified opportunities and strategies conducive to successful integration, emphasizing proactive measures such as community engagement, advocacy, and the fostering of supportive networks. Conclusion: The integration of genetic services in Africa holds promise for enhancing healthcare outcomes but also poses challenges and opportunities for healthcare and biotechnology enterprises. To address gaps in disease awareness, we advocate for healthcare providers to invest in educational initiatives, forge partnerships with local institutions, and leverage digital platforms. Furthermore, we urge businesses to innovate and devise cost-effective genetic testing models while establishing online forums to promote dialogue and contribute positively to African healthcare.

Risk factors for premature births: a cross-sectional analysis of hospital records in a Cameroonian health facility.

The aim of this study was to investigate the risk factors for preterm births in the Yaounde Gynaeco-Obstetric and Pediatric Hospital in Cameroon, and to describe their outcomes. We conducted a cross-sectional analytical study of hospital records over eight years. The incidence of prematurity was 26.5 % of admissions over a period of 7 years 7 months. After controlling for confounding factors, we identified attending antenatal care visits in a health centre (Odds ratio [OR] 6.19; 95% Confidence interval [CI] 1.15 - 33.22; p = 0.033), having a urinary tract infection (OR 39.04; 95% CI 17.19 - 88.62; p < 0.001), multiple gestation (OR 3.82; 95% CI 2.68 - 5.43; p <0.001) and congenital malformations (OR 2.78; 95% CI 1.24 - 6.22; p = 0.013) increased the odds of preterm birth. On the other hand being a student mother (OR 0.44; 95% CI 0.20 - 0.98; p = 0.047), being married (OR 0.40 95% CI 0.19 - 0.84; p = 0.016) and more antenatal visits (OR 0.23; 95% CI 0.15 - 0.35; p <0.001) reduced the odds of preterm birth Neonatal mortality in these preterm neonates was 36.6%, in which 69% occurred in the early neonatal period. The main causes of death were neonatal infections (27.6%), neonatal asphyxia (11.9%) and congenital malformations (10.3%). We recommend enhanced prenatal care and management of pathologies which arise during pregnancy.

Imaging of developmental delay in black African children: A hospital-based study in Yaoundé-Cameroon.

Background: The purpose of this study was to describe the anomalies observed on imaging for developmental delay in black African children. Methods: It was a descriptive cross-sectional study, which included children aged between 1 month to 6 years with developmental delay and had done a brain MRI and/or CT scan. Results: We included 94 children, 60.6% of whom were males. The mean age was 32.5 ± 6.8 months. A history of perinatal asphyxia found in 55.3% of cases. According to the Denver developmental II scale, profound developmental delay observed in 35.1% of cases, and severe developmental delay in 25.5%. DD was isolated in 2.1% of cases and associated with cerebral palsy, pyramidal syndrome, and microcephaly in respectively 83%, 79.8%, and 46.8% of cases. Brain CT scan and MRI accounted for 85.1% and 14.9% respectively. The tests were abnormal in 78.7% of the cases, and cerebral atrophy was the preponderant anomaly (cortical atrophy = 80%, subcortical atrophy = 69.3%). Epileptic patients were 4 times more likely to have abnormal brain imaging (OR = 4.12 and p = 0.05),. We did not find a link between the severity of psychomotor delay and the presence of significant anomalies in imaging. Conclusion: In our context, there is a high prevalence of organic anomalies in the imaging of psychomotor delay, which were dominated by cerebral atrophy secondary to hypoxic ischemic events.

Hydrocephalus in toddlers: the place of shunts in sub-Sahara African countries.

PURPOSE: This study describes the epidemiological patterns of hydrocephalus in toddlers in our setting in order to determine the proportion of those who could benefit from endoscopic third ventriculostomy (ETV). METHODS: This prospective and descriptive study included all toddlers operated on for hydrocephalus from 1 March 2008 to 31 March 2010 at the Yaounde Central Hospital. RESULTS: Forty-six toddlers were included representing 72% of all hydrocephalus cases managed at the Neurosurgery Unit during the study period. The mean age was 6.9 ± 1.6 months. The delay before treatment varied from 5 days to 15.8 months (mean = 3.7 ± 0.5 months). The commonest clinical presentation was macrocrania (78.3%). Of the toddlers, 58.7% presented with a probable blindness (loss of ocular pursuit); dilated and non-reactive pupils were found in nine patients (19.6%). The diagnosis was based on transfontanellar echography (TFE), CT scan or combined TFE and CT scan. Identified aetiologies were aqueduct stenosis (28.7%), haemorrhage (18%), Dandy-Walker's syndrome (14.3%), meningitis (10.8%), myelomeningocele (10.8%), agenesis of Monro's foramen (3.6%), brain abscess (3.2%) and posterior fossa tumour (3.6%). No specific cause was found in 7% of cases. The treatment was ventriculoperitoneal shunting in 42 cases (91.3%) and ETV in two cases (4.3%). Infections (11.1%) and shunts' obstruction (5.4%) were the main complications. CONCLUSION: Cases of hydrocephalus in toddlers are frequent in our setting. Regardless of the patient's age, the most prevailing aetiologies (infections, haemorrhage, myelomeningocele) and technological conditions (neuroendoscope) are less favourable for ETV. The use of ETV in the treatment of hydrocephalus in sub-Saharan Africa is still marginal and needs to be encouraged in selected cases. The prevention of non-tumoral hydrocephalus is of critical importance.

Disseminated leishmaniasis in a four-year-old child in Yaoundé, Cameroon.

Leishmaniasis is a disease caused by a protozoan parasite of the genus leishmania with worldwide distribution and is transmitted to man by phlebotomine sand flies. The clinical presentation could range from a single cutaneous ulcer to disseminated leishmaniasis. We report the case of a four-year-old boy admitted to our hospital with ulcers, wasting, progressively distending abdomen, and fatigue evolving for about two months. On admission, he was febrile and pale, with diffuse oozing wet ulcers on the limbs and face, hepatosplenomegaly, and enlarged inguinal lymph nodes. The complete blood count revealed pancytopenia with low reticulocyte count, and serum protein electrophoresis showed hypoalbuminemia and hypergammaglobulinemia. Skin biopsy revealed amastigotes in phagocytic cells. The above findings suggested cutaneous and visceral localization of the leishmania; however, the parents absconded with the boy just when treatment was instituted, believing that the child was bewitched. The outcome is expected to be fatal visceral involvement.

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.

BACKGROUND: Fragile X Syndrome (FXS) is a neurogenetic condition that significantly impacts the lives of affected individuals and their families due to its association with intellectual disability (ID) and stigma. METHOD: In this paper, we present the findings of an ethnographic study in the community of a patient who received a genetic diagnosis for FXS in Cameroon. This study builds on data from 28 participants of a royal family and 58 from the community who participated in 20 in-depth interviews and nine focus group discussions. RESULTS: We identified two types of stigma in this community: public stigma directed towards the royal family and associative stigma experienced by royal family members. We outline the stereotyping labels used for the family and its children with Fragile X Syndrome and describe the stigma-power dynamic between the community members and the royal family. First, most villagers use less stigmatizing terms to addressing FXS children from the chieftaincy because of their position in society. Secondly, due to their social position, the royal family uses their status to negotiate marriages with community members. From these observations, we can suggest that the primary role of stigma in this community is to keep people away from FXS and keep them down through domination and exploitation. CONCLUSION: We advocate that other researchers examine if the same pattern exists in other inheritable forms of ID and conduct more qualitative research on FXS in Africa.

Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa).

Background: This study aimed to gain an understanding of the challenges faced by people with hearing impairment (HI) in Cameroon, their understanding of the causes of HI, and how challenges could be remedied to improve the quality of life of persons with HI. Methods: Semi-structured one-on-one in-depth interviews and observation of participant behaviour when answering questions were used to collect data from 10 HI professionals (healthcare workers and educationists), and 10 persons affected by HI (including caregivers). Results: The results show that the different groups associate the causes of HI to genetics, environmental factors, and a spiritual curse. There were reported cases of stigma and discrimination of persons with HI, with people sometimes referring to HI as an "intellectual disorder." Interviewees also highlighted the difficulty persons with HI have in accessing education and healthcare services and suggested the need for the government and health researchers to develop strategies for the prevention and early diagnosis of HI. These strategies include (1) the awareness of the general population regarding HI, (2) the development of facilities for the proper management and new-born screening of HI, and (3) the implementation of a premarital screening to reduce the burden of HI of genetic origin. Conclusions: This study confirms the difficult social interaction and access to proper management faced by persons with HI in Cameroon and further highlights the need to educate populations on the causes of HI for a better acceptance of individuals with HI in the Cameroonian society.

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies.

Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature. We conducted a literature search in May 2019 using four databases; PubMed, Web of Science, African-Wide-Information, and Scopus. The keywords used in our search strategy were associated with caregivers, lived experiences, FXS, and qualitative research. All English language articles with full-text reporting were included. Studies associated with other neurodevelopmental conditions and quantitative studies were excluded. We identified 12 out of 203 articles that described the lived experiences of families with FXS. Most articles originated from the United States of America and mothers were the main caregivers. We summarized our findings into four major themes which are; grief experiences, challenges of living with FXS, coping mechanisms and the need to plan for future outcomes. This scoping review highlights the scarcity of qualitative FXS literature in the African population and frustrations endured by families with FXS due to the low knowledge of FXS by healthcare workers. More research is needed to evaluate the impact of living with FXS in males and fathers.

DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.

BACKGROUND: Most of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients. METHODS: We recruited DMD patients and performed a general physical examination on each of them. Multiplex ligand-dependant probe amplification was carried out to investigate exon deletions and duplications in the DMD gene (OMIM: 300377) of patients and their mothers. RESULTS: A total of 17 male patients from 14 families were recruited, aged 14 ± 5.1 (8-23) years. The mean age at onset of symptoms was 4.6 ± 1.5 years, and the mean age at diagnosis was 12.1 ± 5.2 years. Proximal muscle weakness was noted in all patients and calf hypertrophy in the large majority of them (88.2%; 15/17). Flexion contractures were particularly frequent on the ankle (85.7%; 12/14). Wasting of shoulder girdle and thigh muscles was present in 50% (6/12) and 46.2% (6/13) of patients, respectively. No patient presented with hearing impairment. Deletions in DMD gene (OMIM: 300377) occurred in 45.5% of patients (5/11), while duplications were observed in 27.3% (3/11). Both mutation types were clustered between exons 45 and 50, and the proportion of de novo mutation was estimated at 18.2% (2/11). CONCLUSION: Despite the first symptoms of DMD occurring in infancy, the diagnosis is frequently made later in adolescence, indicating an underestimation of the number of cases of DMD in Cameroon. Future screening of deletions and duplications in patients from Cameroon should focus on the distal part of the gene.

Hearing Impairment Overview in Africa: the Case of Cameroon.

The incidence of hearing impairment (HI) is higher in low- and middle-income countries when compared to high-income countries. There is therefore a necessity to estimate the burden of this condition in developing world. The aim of our study was to use a systematic approach to provide summarized data on the prevalence, etiologies, clinical patterns and genetics of HI in Cameroon. We searched PubMed, Scopus, African Journals Online, AFROLIB and African Index Medicus to identify relevant studies on HI in Cameroon, published from inception to 31 October, 2019, with no language restrictions. Reference lists of included studies were also scrutinized, and data were summarized narratively. This study is registered with PROSPERO, number CRD42019142788. We screened 333 records, of which 17 studies were finally included in the review. The prevalence of HI in Cameroon ranges from 0.9% to 3.6% in population-based studies and increases with age. Environmental factors contribute to 52.6% to 62.2% of HI cases, with meningitis, impacted wax and age-related disorder being the most common ones. Hereditary HI comprises 0.8% to 14.8% of all cases. In 32.6% to 37% of HI cases, the origin remains unknown. Non-syndromic hearing impairment (NSHI) is the most frequent clinical entity and accounts for 86.1% to 92.5% of cases of HI of genetic origin. Waardenburg and Usher syndromes account for 50% to 57.14% and 8.9% to 42.9% of genetic syndromic cases, respectively. No pathogenic mutation was described in GJB6 gene, and the prevalence of pathogenic mutations in GJB2 gene ranged from 0% to 0.5%. The prevalence of pathogenic mutations in other known NSHI genes was <10% in Cameroonian probands. Environmental factors are the leading etiology of HI in Cameroon, and mutations in most important HI genes are infrequent in Cameroon. Whole genome sequencing therefore appears as the most effective way to identify variants associated with HI in Cameroon and sub-Saharan Africa in general.

Severe malaria in Cameroon: Pattern of disease in children at the Yaounde Gynaeco-Obstetric and Pediatric hospital.

BACKGROUND AND OBJECTIVE: Malaria is the most widely spread parasitic disease in the world, especially in the tropics affecting mostly children and pregnant women. In children, mostly under-fives carry the heaviest burden in terms of morbidity and mortality. The aim of this study was to determine the epidemiological and clinical aspects, and outcome of children 3 months to 15 years old with severe malaria at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (YGOPH), a referral hospital in Yaounde, Cameroon. METHODS: It was a descriptive study at the general pediatric unit of the YGOPH. We enrolled all children aged 3 months to 15 years admitted for severe malaria, with one or more signs of severity and confirmed by a Rapid Diagnostic Test (RDT) and/or thick blood smear (TBS). RESULTS: Over six months, 1782 children were admitted in the unit and 466 had severe malaria giving a frequency of 26.10%. The mean age was 51±42 months, and the sex ratio was 1.2. The highest transmission rate was during the rainy season, within the months of April and May. The main symptoms on admission were prostration, fever with body temperature ≥40°C and convulsions (61.90%, 58.00%, and 30.30% respectively). RDT was positive in 98.90% of cases and TBS was positive in 60.00%. The outcome was favourable in 93.30% of the patients and 16 died giving a mortality rate of 3.80%. CONCLUSION: Severe malaria is a public health problem affecting mostly children under five years. Proper management consists of prompt diagnosis and early appropriate treatment. Prevention is by information, education and communication on environmental cleanliness and the use of insecticide-treated mosquito nets.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.