Department of Paediatrics

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Browsing Department of Paediatrics by Subject "Africa"

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  • Item
    Open Access
    Medical genetics and genomic medicine in Nigeria
    (Wiley Periodicals, Inc., 2018) Adeyemo, A.A.; Amodu, O.K.; Ekure, E.N.; Omotade, O.O.
    Full texts attached
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    Open Access
    Noonan syndrome in diverse populations
    (Wiley Periodicals, Inc., 2017-07-27) Kruszka, P.; Porras, A.R.; Addissie, Y.A.; Moresco, A.; Medrano, S.; Mok, G.T.K.; Leung, G.K.C.; Tekendo-Ngongang, C.; Uwineza, A.; Thong, M.K.; Muthukumarasamy, P.; Honey, E.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Vincent, L.M.; Love, A.; Belhassan, K.; Ouldim, K.; El Bouchikhi, I.; Shukla, A.; Girisha, K.M.; Patil, S.J.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Mishra, R.; Klein-Zighelboim, E.; Gallardo Jugo, B.E.; Chávez Pastor, M.; Abarca-Barriga, H.H.; Skinner, S.A.; Prijoles, E.J.; Badoe, E.; Gill, A.D.; Shotelersuk, V.; Smpokou, P.; Kisling, M.S.; Ferreira, C.R.; Mutesa, L.; Megarbane, A.; Kline, A.D.; Kimball, A.; Okello, E.; Lwabi, P.; Aliku, T.; Tenywa, E.; Boonchooduang, N.; Tanpaiboon, P.; Richieri-Costa, A.; Wonkam, A.; Chung, B.H.Y.; Stevenson, R.E.; Summar, M.; Mandal, K.; Phadke, S.R.; Obregon, M.G.; Linguraru, M.G.; Muenke, M.
    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 NS 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.
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    Open Access
    Rubinstein-Taybi syndrome in diverse populations.
    (Wiley Periodicals, Inc., 2020-12) Tekendo-Ngongang, C.; Owosela, B.; Fleischer, N.; Addissie, Y.A.; Malonga, B.; Badoe, E.; Gupta, N.; Moresco, A.; Huchstadt, V.; Ashaat, E.A.; Hussen, D.F.; Luk, H.M.; Lo, I.F.M.; Hon-Yin Chung, B.; Fung, J.L.F.; Moretti-Ferreira, D.; Batista, L.C.; Lotz-Esquivel, S.; Saborio-Rocafort, M.; Badilla-Porras, R.; Penon Portmann, M.; Jones, K.L.; Abdul-Rahman, O.A.; Uwineza, A.; Prijoles, E.J.; Ifeorah, I.K.; Llamos Paneque, A.; Sirisena, N.D.; Dowsett, L.; Lee, S.; Cappuccio, G.; Kitchin, C.S.; Diaz-Kuan, A.; Thong, M.K.; Obregon, M.G.; Mutesa, L.; Dissanayake, V.H.W.; El Ruby, M.O.; Brunetti-Pierri, N.; Ekure, E.N.; Stevenson, R.E.; Muenke, M.; Kruszka, P.
    Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.