Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.

This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60). All our female patients have ID.

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.

BACKGROUND: Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of this pilot study was to test Face2Gene's recognition performance on Bantu Congolese subjects with Fragile X syndrome (FXS) as compared to Congolese subjects with intellectual disability but without FXS (non-FXS). METHOD: Frontal facial photograph from 156 participants (14 patients with FXS and 142 controls) predominantly young-adults to adults, median age 18.9 age range 4-39yo, were uploaded. Automated face analysis was conducted by using the technology used in proprietary software tools called Face2Gene CLINIC and Face2Gene RESEARCH (version 17.6.2). To estimate the statistical power of the Face2Gene technology in distinguishing affected individuals from controls, a cross validation scheme was used. RESULTS: The similarity seen in the upper facial region (of males and females) is greater than the similarity seen in other parts of the face. Binary comparison of subjects with FXS versus non-FXS and subjects with FXS versus subjects with Down syndrome reveal an area under the curve values of 0.955 (p = 0.002) and 0.986 (p = 0.003). CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.

Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

BACKGROUND: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing. METHODS: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis. All patients enrolled in clinical checklists trials of Fragile X syndrome were eligible for this review, with no exclusion based on ethnicity or age. Odds ratio values, with 95% confidence intervals as well as Cronbach coefficient alpha, was reported to assess the frequency of clinical characteristics in subjects with intellectual disability with and without the fragile X mutation to determine the most discriminating. RESULTS: The following features were strongly associated with Fragile X syndrome: skin soft and velvety on the palms with redundancy of skin on the dorsum of hand [OR: 16.85 (95% CI 10.4-27.3; α:0.97)], large testes [OR: 7.14 (95% CI 5.53-9.22; α: 0.80)], large and prominent ears [OR: 18.62 (95% CI 14.38-24.1; α: 0.98)], pale blue eyes [OR: 8.97 (95% CI 4.75-16.97; α: 0.83)], family history of intellectual disability [OR: 3.43 (95% CI 2.76-4.27; α: 0.81)] as well as autistic-like behavior [OR: 3.08 (95% CI 2.48-3.83; α: 0.77)], Flat feet [OR: 11.53 (95% CI 6.79-19.56; α:0.91)], plantar crease [OR: 3.74 (95% CI 2.67-5.24; α: 0.70)]. We noted a weaker positive association between transverse palmar crease [OR: 2.68 (95% CI 1.70-4.18; α: 0.51)], elongated face [OR: 3.69 (95% CI 2.84-4.81; α: 0.63)]; hyperextensible metacarpo-phalangeal joints [OR: 2.68 (95% CI 2.15-3.34; α: 0.57)] and the Fragile X syndrome. CONCLUSION: This study has identified the highest risk features for patients with Fragile X syndrome that have been used to design a universal clinical checklist.

[Trace elements in serum of malnourished and well-nourished children living in Lubumbashi and Kawama]. / Eléments traces dans le sérum des enfants malnutris et bien nourris vivants à Lubumbashi et Kawama dans un contexte d'un environnement de pollution minière.

INTRODUCTION: The role of trace metals elements in human nutrition can no longer be ignored. Deficiency caused by inadequate dietary intake, secondary deficiencies often under - estimated, and iatrogenic deficiencies lead to pathologies such as infections and others. For this reason their dosages are particularly important to assess disease severity and to facilitate early treatment or improve patient's diet. The aim of this study was to determine trace elements profile in blood (copper, selenium, zinc, iron, chromium, cobalt, etc.) among malnourished and well-nourished children in a mining community in Lubumbashi. METHODS: Three hundred eleven cases have been collected, 182 malnourished children and 129 well-nourished children in a cross-sectional descriptive study conducted from July 2013 to December 2014. Exhaustive sampling was performed. Metal determination in serum was performed using Inductively Coupled Plasma Spectroscopy (ICP-OES/MS) in the laboratory at Congolese Control Office in Lubumbashi. RESULTS: Essential trace elements (copper, zinc, selenium and iron) were found at very low concentrations in both the malnourished and well-nourished children. Arsenic, cadmium, magnesium and manganese concentrations were normal compared with reference values in well-nourished children Antimony, chromium, lead and cobalt levels were high in both the malnourished and well-nourished children. Nickel level was normal malnourished and well-nourished children. Magnesium, manganese were found in very low levels in malnourished children. CONCLUSION: Both the malnourished and well-nourished children suffer from deficiencies of essential trace elements associated with trace metals elements This allows to assume that essential micronutrients deficiency promotes the absorption of heavy metals.

[Clinical signs of malnutrition in children living around a mining area: a case study in the city of Lubumbashi and its surrounding]. / Signes cliniques rencontrés chez l'enfant malnutri dans un milieu minier: cas de la ville de Lubumbashi et ses environs.

INTRODUCTION: Malnutrition remains to this day a major public health problem, particularly in developing countries. This study aimed to determine the clinical signs observed in malnourished children admitted to a care unit. METHODS: This is a descriptive cross-sectional study, conducted from July 2013 to December 2014. Our study included 311 cases (182 malnourished children and 129 well-nourished children), based on exhaustive sampling, with an active screening of malnourished and well-nourished children. The diagnosis was made clinically and was associated with anthropometry. RESULTS: The main collected symptoms in malnourished children were: cough or pneumonia in 42.50%, gastroenteritis in 38.55%, skin lesions in 22.91% of cases, fever in 22.35% of cases, edema in 19.0% of children, pallor in 8.38% of children; finally splenomegaly and hepatomegaly were the less common symptoms (1.68% and 2.89% respectively). Well-nourished children, instead, showed splenomegaly and fever associated with malaria. CONCLUSION: Malnourished children living around a mining area don't differ in symptomatology from the other malnourished children, except for hepatomegaly and splenomegaly which are very rare in our malnourished children.