Department of Paediatrics

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Browsing Department of Paediatrics by Author "Abdul-Rahman, O.A."

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    Open Access
    22q11.2 deletion syndrome in diverse populations
    (Wiley Periodicals, Inc., 2017-04) Kruszka, P.; Addissie, Y.A.; McGinn, D.E.; Porras, A.R.; Biggs, E.; Share, M; Crowley, T.B.; Chung, B.H.; Mok, G.T.; Mak, C.C.; Muthukumarasamy, P.; Thong, M.K.; Sirisena, N.D.; Dissanayake, V.H.; Paththinige, C.S.; Prabodha, L.B.; Mishra, R.; Shotelersuk, V.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Ferreira, C.R.; Duncan, J.M.; Patil, S.J.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Uwineza, A.; Mutesa, L.; Moresco, A.; Obregon, M.G.; Richieri-Costa, A.; Gil-da-Silva-Lopes, V.L.; Adeyemo, A.A.; Summar, M.; Zackai, E.H.; McDonald-McGinn, D.M.; Linguraru, M.G.; Muenke, M.
    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
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    Open Access
    Cover Image, Volume 173A, Number 4, April 2017
    (Wiley Periodicals, Inc., 2017-04) Kruszka, P.; Addissie, Y.A.; McGinn, D.E.; Porras, A.R.; Biggs, E.; Share, M.; Crowley, T.B.; Chung, B.H.Y.; Mok, G.T.K.; Muthukumarasamy, P.; Thong, M.; Sirisena, N.D.; Dissanayake, V.H.W.; Paththinige, C.S.; Prabodha, L.B.; Mishra, R.; Shotelersuk, V.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Ferreira, C.R.; Duncan, J.; Patil, S.J.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Gil-da-Silva-Lopes, V.L.; Moresco, A.; Obregon, M.G.; Richieri-Costa, A.; Adeyemo, A.A.; Summar, M.; Zackai, E.H.; McDonald-McGinn, D.M.; Linguraru, M.G.; Muenke, M.
    The cover image, by Paul Kruszka et al., is based on the Original Article 22q11.2 deletion syndrome in diverse populations, DOI: 10.1002/ajmg.a.38199. Individual images are property of the National Human Genome Research Institute and are in the public domain.
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    Open Access
    Cover Image, Volume 173A, Number 9, September 2017
    (Wiley Periodicals, Inc., 2017-09) 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.; Muthukumarasamy, P.; Honey, E.; Ekure, E.N.; Sokunbi, O.J.; Kalu, N.; Jones, K.L.; Kaplan, J.D.; Abdul-Rahman, O.A.; Vincent, L.; Love, A.; Belhassan, K.; Ouldim, K.; Bouchikhi, I.E.; 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.; 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.; Obregon, M.G.; Linguraru, M.G.; Muenke, M.
    The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
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    Open Access
    Down syndrome in diverse populations
    (Wiley Periodicals, Inc., 2017-01) Kruszka, P.; Porras, A.R.; Sobering, A.K.; Ikolo, F.A.; La Qua, S.; Shotelersuk, V.; Chung, B.H.; Mok, G.T.; Uwineza, A.; Mutesa, L.; Moresco, A.; Obregon, M.G.; Sokunbi, O.J.; Kalu, N.; Joseph, D.A.; Ikebudu, D.; Ugwu, C.E.; Okoromah, C.A.; Addissie, Y.A.; Pardo, K.L.; Brough, J.J.; Lee, N.C.; Girisha, K.M.; Patil, S.J.; Ng, I.S.; Min, B.C.; Jamuar, S.S.; Tibrewal, S.; Wallang, B.; Ganesh, S.; Sirisena, N.D.; Dissanayake, V.H.; Paththinige, C.S.; Prabodha, L.B.; Richieri-Costa, A.; Muthukumarasamy, P.; Thong, M.K.; Jones, K.L.; Abdul-Rahman, O.A.; Ekure, E.N.; Adeyemo, A.A.; Summar, M.; Linguraru, M.G.; Muenke, M.
    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 = 6.6 years). Subjective findings 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 = 129 cases; n = 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.
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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.