Dataset Information

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

ABSTRACT: Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country. A total of 127 patients (33 females and 94 males, mean age 10.03 ± 4.68 years), were recruited from six institutions across Kinshasa. A clinical diagnosis was achieved in 44 but molecular confirmation was achieved in 21 of the 22 patients with expected genetic defect (95% clinical sensitivity). Identified diseases included Down syndrome (15%), submicroscopic copy number variants (9%), aminoacylase deficiency (0.8%), Partington syndrome in one patient (0.8%) and his similarly affected brother, X-linked syndromic Mental Retardation type 33 (0.8%), and two conditions without clear underlying molecular genetic etiologies (Oculo-Auriculo-Vertebral and Amniotic Bands Sequence). We have shown that genetic etiologies, similar to those reported in Caucasian subjects, are a common etiologic cause of ID in African patients from Africa. We have confirmed the diagnostic utility of clinical characterization prior to genetic testing. Finally, our clinical descriptions provide insights into the presentation of these genetic diseases in African patients.

SUBMITTER: Lumaka A

PROVIDER: S-EPMC6325645 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka Aimé A Race Valerie V Peeters Hilde H Corveleyn Anniek A Coban-Akdemir Zeynep Z Jhangiani Shalini N SN Song Xiaofei X Mubungu Gerrye G Posey Jennifer J Lupski James R JR Vermeesch Joris R JR Lukusa Prosper P Devriendt Koenraad K

American journal of medical genetics. Part A 20180808 9

Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into ...[more]

PMID: 30088852

Similar Datasets

Project description:IntroductionPrehospital care in many low- and middle-income countries is underdeveloped and needs strengthening for improved outcomes. Where formal prehospital care systems are under development, integration of a layperson first responder programme may help improve access for those in need. The World Health Organization recently developed the Community First Aid Responder (CFAR) learning program in support of this system, providing that it may require adaptation to be contextually suitable and sustainably implemented at country level. This study assesses a pilot WHO CFAR course in Kinshasa, Democratic Republic of Congo, to inform future rollouts and related research.MethodsWe conducted a 3-day in-person pilot CFAR training with 42 purposively selected community health workers. Data collection involved quantitative and qualitative phases. The first consisted of structured pre- and post-training surveys, and a course evaluation by participants. The second consisted of two focus group discussions involving purposively selected community health workers in one group, and a convenience sample of course instructors and organisers in the other. Perceptions regarding course content, perceived knowledge acquisition and self-confidence gain were analysed using descriptive statistics for the quantitative data and content analysis for qualitative data.ResultsCourse participants were predominantly male (76.3 %) with a median age of 42 years and most (80.5 %) had no prior first aid training. Most were satisfied that the learning objectives were reached, the logistics were adequate, and that the content and teaching language were appropriately tailored to local context. The majority (94.7 %) found the 3-day duration insufficient. There was a significant self-confidence gain regarding first aid skills (average 17.9 % in pre- to 95.3 % in post-training, p < 0.001). Favourable opinions on the course structure, content, logistics and teaching methods were noted.ConclusionA CFAR course pilot was successfully conducted in Kinshasa. The course is appropriate for context and well received by participants. It can form a key component of developing prehospital care systems in resource-constrained settings.

Project description:BackgroundHepatitis B virus (HBV) co-infection in HIV-infected individuals increases the risk of hepatic complications and mortality. Further, the risk of perinatal HBV transmission increases among HBV/HIV co-infected pregnant women. Although HBV is endemic in the Democratic Republic of Congo, there is little data on HBV/HIV co-infection. We aimed to assess the burden and risk factors of HBV surface antigen (HBsAg) positivity among HIV-infected pregnant and post-partum women.MethodsThis cross-sectional study was conducted as part of an ongoing trial to assess the effect of data-driven continuous quality improvement interventions (CQI) for optimal prevention of mother-to-child transmission (PMTCT) of HIV (CQI-PMTCT study, NCT03048669). In each of the 35 health zones of Kinshasa province, all HIV-infected pregnant or breastfeeding women (≤1 year post-delivery) presenting for care in one of the three busiest maternal and child health clinics of the health zone were tested for HBsAg using Alere Determine, Japan. We used logistic regression with general estimating equation accounting for within-clinic clustering to assess risk factors of HBsAg positivity.ResultsBetween November 2016 and June 2018, a total of 1377 women, all on antiretroviral therapy, were tested for HBsAg. Overall, 4.7% [95% binomial confidence interval (CI): 3.7%-5.7%] tested positive for HBsAg. HBsAg prevalence was 3.3% (95% CI: 2.1%-4.8%) for women tested during pregnancy, 4.5% (2.5%-7.4%) for those tested at delivery, and 8.5% (5.6%-12.2%) for those tested post-partum (Ptrend = 0.001). In multivariate models including socio-economic status (SES), type of care facility, duration of antiretroviral therapy, HIV viral load, and self-reported intimate partner violence (IPV), lowest tertile of SES, ≤ 6 months of ART, and IPV were all consistently and positively associated with higher prevalence of HBsAg across pregnancy, delivery, and postpartum period while been tested in a health centre or having a viral load ≥ 1000 copies/mL were consistently associated with lower prevalence. However, only the association with IPV (OR = 2.74, 95% CI: 1.10-6.84) and viral load between 40-1000 copies/ml (OR = 4.28, 95% CI: 1.22-15.01) achieved statistical significance among pregnant women.ConclusionThis study revealed an overall high prevalence of HBsAg among HIV-infected pregnant and post-partum women in Kinshasa with the latter showing the highest HBsAg prevalence. Among pregnant women, intimate partner violence was independently and statistically associated with HBsAg positivity, requiring further investigation.

Project description:The etiology of kwashiorkor remains enigmatic and longitudinal studies examining potential causes of kwashiorkor are scarce. Using historical, longitudinal study data from the rural area of Bwamanda, Democratic Republic of Congo, we investigated the potential causal association between diet and the development of kwashiorkor in 5?657 preschool children followed 3-monthly during 15 months. We compared dietary risk factors for kwashiorkor with those of marasmus. Kwashiorkor was diagnosed as pitting oedema of the ankles; marasmus as abnormal visibility of skeletal structures and palpable wasting of the gluteus muscle. A 24-h recall was administered 3-monthly to record the consumption of the 41 locally most frequent food items. We specified Hanley-Miettinen smooth-in-time risk models containing potential causal factors, including food items, special meals prepared for the child, breastfeeding, disease status, nutritional status, birth rank, age, season and number of meals. Bayesian Information Criteria identified the most plausible causal model of why some children developed kwashiorkor. In a descriptive analysis of the diet at the last dietary assessment prior to development of kwashiorkor, the diet of children who developed kwashiorkor was characterized by low consumption of sweet potatoes, papaya and "other vegetables" [0.0% , 2.3% (95% CI [0.4, 12.1]) and 2.3% (95% CI [0.4, 12.1])] in comparison with children who did not develop kwashiorkor [6.8% (95% CI [6.4, 7.2]), 15.5% (95% CI [15, 16.1]) and 15.1% (95% CI [14.6, 15.7])] or children who developed marasmus [4.5% (95% CI [2.6, 7.5]) 11.8% (95% CI [8.5, 16.0]) and 17.6% (95% CI [13.7, 22.5])]. Sweet potatoes and papayas have high ?-carotene content and so may some of "the other vegetables". We found that a risk model containing an age function, length/height-for age Z-score, consumption of sweet potatoes, papaya or other vegetables, duration of this consumption and its interaction term, was the most plausible model. Among children aged 10-42 months, the risk of developing kwashiorkor increased with longer non-consumption of these foods. The analysis was repeated with only children who developed marasmus as the reference series, yielding similar results. Our study supports that ?-carotene may play an important role in the protection against kwashiorkor development.

Project description:Neuromeningeal cryptococcosis (NMC) is a life-threatening opportunistic infection in advanced HIV disease patients (AHDP). It is caused by Cryptococcus spp. complexes and mainly occurs in sub-Saharan Africa. In this study, we performed molecular characterization and antifungal susceptibility profiling of Cryptococcus isolates from AHDP in Kinshasa (DRC). Additionally, we investigated a possible association between NMC severity factors and the Cryptococcus neoformans (Cn) multilocus sequence typing (MLST) profiles. We characterized the isolates using PCR serotyping, MALDI-TOF MS, internal transcribed spacer (ITS) sequencing, and MLST. Susceptibility testing for the major antifungal drugs was performed according to the EUCAST guidelines. Parameters associated with NMC severity, such as hypoglycorrhachia (< 50 mg/dL), increased cerebral spinal fluid opening pressure (> 30 cm H2O), and poor therapeutic outcome were compared with the Cn MLST sequences type (ST). Twenty-three out of 29 Cryptococcus isolates were identified as serotype A using PCR serotyping (79.3%; 95% IC: 65.5-93.1), while six (20.7%; 95% IC: 6.9-34.5) were not serotypable. The 29 isolates were identified by ITS sequencing as follows: Cryptococcus neoformans (23/29, 79.3%), Cutaneotrichosporon curvatus (previously called Cryptococcus curvatus) (5/29, 17.2%), and Papiliotrema laurentii (Cryptococcus laurentii) (1/29, 3.5%). Using the ISHAM MLST scheme, all Cn isolates were identified as molecular type VNI. These comprised seven different STs: ST93 (n = 15), ST5 (n = 2), ST53 (n = 1), ST31 (n = 1), ST4 (n = 1), ST69 (n = 1), and one novel ST that has not yet been reported from other parts of the world and was subsequently assigned as ST659 (n = 2). Of the included strains, only Papiliotrema laurentii was resistant to amphoterin B (1/29, 3.5%), 6.8% (2/29) were resistant to 5-flucytosine (the single Papiliotrema laurentii strain and one Cryptococcus neoformans isolate), and 13.8% (4/29) to fluconazole, including two of five (40%) Cutaneotrichosporon curvatus and two of 23 (8.7%) C. neoformans strains. We found a significative association between poor therapeutic outcome and a non-ST93 sequence type of causative strains (these concerned the less common sequence types: ST53, ST31, ST5, ST4, ST659, and ST69) (87.5% versus 40%, p = 0.02). Molecular analysis of Cryptococcus spp. isolates showed a wide species diversity and genetic heterogenicity of Cn within the VNI molecular type. Furthermore, it is worrying that among included strains we found resistances to several of the commonly used antifungals.

Project description:BackgroundResistance to antibiotics is an increasing and major threat to global health. While the large majority of antimicrobial use occurs in the community where antibiotics are available without prescription, we did not find any studies investigating community-level factors influencing the inappropriate use of antibiotics in the Democratic Republic of Congo (DRC), where non-prescription antibiotic use is prevalent.MethodsThis qualitative study was conducted from April 1st 2019 to May 5th 2019 and consisting of in-depth semi-structured interviews, utilizing purposive and snowball sampling schemes to recruit adult heads of households in the Pakadjuma slum, in Kinshasa, DRC. Participants with differing medical and educational backgrounds were selected. We employed a thematic analysis approach to explore community knowledge and use of antibiotics in the sampled population.ResultsA total of 18 participants with a median age of 35 years were interviewed. The majority was female (77.7%), had at least a secondary education (83.4%), and unemployed (61.1%). We found that participants were familiar with the term "antibiotics", but had limited knowledge of the indications and risks of antibiotics, including the risk of antibiotic resistance. Inappropriate use of antibiotics was common and there was frequent self-medication of non-prescribed medicines for a range of non-indicated conditions such as menstruation. Having limited income was the most commonly reported reason for not visiting a health facility for appropriate health care.ConclusionInappropriate use of antibiotics is a widespread practice and is influenced by lack of adequate knowledge of antibiotic use, indications and risks, prevalent self-medication, and financial barriers to accessing appropriate health care. There is need for both community education as well as structural interventions addressing poverty in order to reduce the inappropriate use of antibiotics in the Pakadjuma slum in Kinshasa.

Dataset Information

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Publications

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets