Down syndrome in diverse populations
Journal
American Journal of Medical Genetics, Part A
Journal Volume
173
Journal Issue
1
Pages
42-53
Date Issued
2017
Author(s)
Kruszka P.
Porras A.R.
Sobering A.K.
Ikolo F.A.
La Qua S.
Shotelersuk V.
Chung B.H.Y.
Mok G.T.K.
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.N.
Addissie Y.A.
Pardo K.L.
Brough J.J.
Girisha K.M.
Patil S.J.
Ng I.S.L.
Min B.C.W.
Jamuar S.S.
Tibrewal S.
Wallang B.
Ganesh S.
Sirisena N.D.
Dissanayake V.H.W.
Paththinige C.S.
Prabodha L.B.L.
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.
Abstract
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. ? 2016 Wiley Periodicals, Inc. ? 2016 Wiley Periodicals, Inc.
Subjects
diverse populations; down syndrome; facial analysis technology; trisomy 21
SDGs
Other Subjects
adolescent; adult; African; analysis; Article; Asian; biometry; brachycephaly; Caucasian; child; clinical feature; clinodactyly; diagnostic accuracy; digital facial analysis technology; Down syndrome; ear malformation; ethnic difference; face; female; human; infant; major clinical study; male; physical examination; priority journal; sensitivity and specificity; case control study; Down syndrome; facies; genetic association study; genetics; health survey; meta analysis; newborn; phenotype; population group; preschool child; statistics and numerical data; young adult; biological marker; Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Down Syndrome; Facies; Female; Genetic Association Studies; Humans; Infant; Infant, Newborn; Male; Phenotype; Population Groups; Population Surveillance; Sensitivity and Specificity; Young Adult
Publisher
Wiley-Liss Inc.
Type
journal article