ObjectiveTo investigate the prevalence, profile and predictors of severe malnutrition in children with congenital heart defects (CHDs).DesignCase–control, observational study.SettingTertiary teaching hospital in Lagos, Nigeria (March 2006 to March 2008).ParticipantsChildren aged 3–192 months with uncorrected symptomatic CHD and healthy controls, frequency matched for age and sex.Main outcome measuresPrevalence of malnutrition based on WHO/National Center for Health Statistics/Centers for Disease Control and Prevention z score ≤−2; weight for age, weight for height/length and height for age; proportions of underweight, wasting and stunting in cases and controls, and in acyanotic and cyanotic CHD; and predictors of malnutrition using multivariate logistic analysis.Results90.4% of cases and 21.1% of controls had malnutrition (p=0.0001), and 61.2% and 2.6%, respectively, had severe malnutrition (p=0.0001). Wasting, stunting and underweight were identified in 41.1%, 28.8% and 20.5%, and 2.6%, 3.9% and 14.5% of cases and controls, respectively. Wasting was significantly higher (58.3%) in acyanotic CHD (p=0.0001), and stunting (68.0%) in cyanotic CHD (p=0.0001). Age at weaning was significantly lower in cases than controls (3.24±0.88 and 7.04±3.04 months, respectively; p=0.0001) and in acyanotic than cyanotic CHD (2.14±0.33 and 5.33±1.22 months, respectively; p=0.004). Predictors of malnutrition in CHD were anaemia, moderate to severe congestive heart failure (CHF), poor dietary intake of fat and prolonged unoperated disease.ConclusionSevere malnutrition in association with anaemia and moderate to severe CHF is highly prevalent in CHD preoperatively in these children. Early weaning may be a marker of feeding difficulties in heart failure.

Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD ¼ 6.6 years). Subjective 42findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n ¼ 129 cases; n ¼ 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally.

22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P<0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P≥0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with Noonan syndrome were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.

BackgroundChildhood obesity and associated hypertension are major public health concerns globally. This study aimed to determine the prevalence of obesity and the associated risk of high blood pressure among Nigerian adolescents.MethodsA cross-sectional school-based study of 885 apparently healthy adolescents was performed. Weight, height and blood pressure (BP) were measured using standard methods. Body mass index (BMI) was calculated and categorized by age, sex and percentile. Obesity and overweight were defined as: ≥ 95th and 85th to < 95th percentiles, respectively, for age, sex and height. Subjects were sub-categorized into age 10–13 years (A) and 14–17 years (B). The odds ratio for pre-hypertensive and hypertensive range BP by age and BMI were generated. Significance was set at P < 0.05.ResultsThe prevalence of overweight and obesity were 13.8% and 9.4%, respectively. The prevalence of hypertensive range systolic BP in obese versus normal BMI females was 16% versus 23% (p=0.00) and 12.1% versus 6.4% (p=0.27) in males. The prevalence of hypertensive range diastolic BP in obese versus normal BMI females was 12% versus 1.4% (p=0.00) and 15.2% versus 3.5% (p=0.01) in males. BMI in group B was significantly associated with pre-hypertensive and hypertensive range systolic BP in overweight (P = 0.01, P = 0.002) and obese subjects (P = 0.00, P = 0.00) and with hypertensive range diastolic BP (P = 0.00) only in obese subjects. The only significant association in group A was between obesity and pre-hypertensive range diastolic BP (P = 0.00).ConclusionThe prevalence of hypertensive range BP among obese Nigerian adolescents was high. Screening for childhood obesity and hypertension, and long-term follow-up of obese adolescents into adulthood are recommended.

BackgroundNigeria is frequently associated with disproportionately high rates of severe neonatal jaundice (NNJ) underpinned by widespread Glucose-6-phosphate dehydrogenase (G6PD) deficiency. Timely and appropriate treatment of NNJ is crucial for preventing the associated morbidity and neuro-developmental sequelae. Since mothers are likely to be the first mostly to observe the onset of severe illness in their newborns, we set out to identify the pattern and predictors of maternal care-seeking practices for NNJ in three culturally-distinct settings in Nigeria.MethodsA multi-centre study was conducted among women attending antenatal clinics in Abuja, Lagos and Port Harcourt from October 2011 to April 2012 using a pretested questionnaire. Predictors of awareness of NNJ, accurate recognition of NNJ, use of potentially harmful therapies and preference for future hospital treatment were determined with multivariate logistic regressions.ResultsOf the 488 participants drawn from the three locations, 431 (88.3%) reported awareness of NNJ, predominantly (57.8%) attributable to professional health workers. A total of 309 (63.3%) mothers with prior knowledge of NNJ claimed they could recognise NNJ, but 270 (87.4%) from this group accurately identified the features of NNJ. Multiparous mothers (Adjusted odds ratio, AOR:4.05; 95% CI:1.75-9.36), those with tertiary education (AOR:1.91; CI:1.01-3.61), and those residing in Lagos (AOR:2.96; CI:1.10-7.97) were more likely to have had prior knowledge of NNJ. Similarly, multiparous mothers (AOR:2.38; CI:1.27-4.46) and those with tertiary education (AOR:1.92; CI:1.21-3.05) were more likely to recognise an infant with jaundice accurately. Mothers educated by health workers were 40% less likely to resort to potentially harmful treatment for NNJ (AOR:0.60; CI:0.39-0.92) but more likely to seek hospital treatment in future for an infant suspected with jaundice (AOR:1.88; CI:1.20-2.95).ConclusionsWomen with tertiary education and multiparous mothers who attend routine antenatal clinics are more likely than less educated women, to be associated with appropriate care-seeking practices for infants with NNJ regardless of the socio-cultural setting. Systematic efforts by professional health workers are warranted, as part of routine antenatal care, to engage other groups of mothers especially those likely to indulge in self-use of potentially harmful therapies.

A double-chambered right ventricle (DCRV) is a rare congenital heart disease and an uncommon cause of congestive cardiac failure. An anomalous muscle band divides the right ventricle into two cavities, causing variable degrees of obstruction. Echocardiography is considered a useful method for the diagnosis of this pathology, especially in children. An eight-year-old patient with a small ventricular septal defect (VSD) and double-chambered right ventricle presented with a history of palpitations, easy fatigability and recurrent fever. On presentation, she had features of congestive cardiac failure. A complete diagnosis was initially missed with transthoracic two-dimensional (2-D) echocardiography but later obtained based on transthoracic 2-D echocardiography with Doppler facility. This was confirmed with cardiac catheterisation. The patient was referred for surgical correction, which was successful. Due to the rarity of this condition and the consequences of missing the diagnosis, we present this case in order to highlight the rarity of this congenital heart disease in childhood.

This is the first prospective, registry-based, multicenter study of CHDs in Nigerian children. We demonstrate important differences between the Northern and the Southern geographical regions of the country in terms of age at diagnosis, type, and severity of lesion as well as access to cardiac surgery. The findings demonstrate the utility of a national CHDs registry for understanding clinical epidemiology of CHDs in low- and middle-income countries and its potential to serve as a basis for research and planning.