TY - JOUR
T1 - Down syndrome in diverse populations
AU - Kruszka, Paul
AU - Porras, Antonio R.
AU - Sobering, Andrew K.
AU - Ikolo, Felicia A.
AU - La Qua, Samantha
AU - Shotelersuk, Vorasuk
AU - Chung, Brian H.Y.
AU - Mok, Gary T.K.
AU - Uwineza, Annette
AU - Mutesa, Leon
AU - Moresco, Angélica
AU - Obregon, María Gabriela
AU - Sokunbi, Ogochukwu Jidechukwu
AU - Kalu, Nnenna
AU - Joseph, Daniel Akinsanya
AU - Ikebudu, Desmond
AU - Ugwu, Christopher Emeka
AU - Okoromah, Christy A.N.
AU - Addissie, Yonit A.
AU - Pardo, Katherine L.
AU - Brough, J. Joseph
AU - Lee, Ni Chung
AU - Girisha, Katta M.
AU - Patil, Siddaramappa Jagdish
AU - Ng, Ivy S.L.
AU - Min, Breana Cham Wen
AU - Jamuar, Saumya S.
AU - Tibrewal, Shailja
AU - Wallang, Batriti
AU - Ganesh, Suma
AU - Sirisena, Nirmala D.
AU - Dissanayake, Vajira H.W.
AU - Paththinige, C. Sampath
AU - Prabodha, L. B.Lahiru
AU - Richieri-Costa, Antonio
AU - Muthukumarasamy, Premala
AU - Thong, Meow Keong
AU - Jones, Kelly L.
AU - Abdul-Rahman, Omar A.
AU - Ekure, Ekanem Nsikak
AU - Adeyemo, Adebowale A.
AU - Summar, Marshall
AU - Linguraru, Marius George
AU - Muenke, Maximilian
N1 - Publisher Copyright:
© 2016 Wiley Periodicals, Inc.
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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.
KW - diverse populations
KW - down syndrome
KW - facial analysis technology
KW - trisomy 21
UR - http://www.scopus.com/inward/record.url?scp=85006289191&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85006289191&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.38043
DO - 10.1002/ajmg.a.38043
M3 - Article
C2 - 27991738
AN - SCOPUS:85006289191
SN - 1552-4825
VL - 173
SP - 42
EP - 53
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -