Down syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Andrew K. Sobering, Felicia A. Ikolo, Samantha La Qua, Vorasuk Shotelersuk, Brian H.Y. Chung, Gary T.K. Mok, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Daniel Akinsanya Joseph, Desmond Ikebudu, Christopher Emeka Ugwu, Christy A.N. Okoromah, Yonit A. Addissie, Katherine L. PardoJ. Joseph Brough, Ni Chung Lee, Katta M. Girisha, Siddaramappa Jagdish Patil, Ivy S.L. Ng, Breana Cham Wen Min, Saumya S. Jamuar, Shailja Tibrewal, Batriti Wallang, Suma Ganesh, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, L. B.Lahiru Prabodha, Antonio Richieri-Costa, Premala Muthukumarasamy, Meow Keong Thong, Kelly L. Jones, Omar A. Abdul-Rahman, Ekanem Nsikak Ekure, Adebowale A. Adeyemo, Marshall Summar, Marius George Linguraru, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)42-53
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 1 2017
Externally publishedYes


  • diverse populations
  • down syndrome
  • facial analysis technology
  • trisomy 21

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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