title: Down syndrome in diverse populations.
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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: Paul
authors.initials: P
authors.lastname: Kruszka
authors.affiliation: Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington DC.
authors.forename: Antonio R
authors.initials: AR
authors.lastname: Porras
authors.affiliation: Department of Biochemistry, St. George's University, St. George's, Grenada, West Indies.
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Sobering
authors.affiliation: Department of Biochemistry, St. George's University, St. George's, Grenada, West Indies.
authors.forename: Felicia A
authors.initials: FA
authors.lastname: Ikolo
authors.affiliation: Department of Biochemistry, St. George's University, St. George's, Grenada, West Indies.
authors.forename: Samantha
authors.initials: S
authors.lastname: La Qua
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
authors.affiliation: Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong kong, China.
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.affiliation: Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong kong, China.
authors.forename: Gary T K
authors.initials: GT
authors.lastname: Mok
authors.affiliation: Center of Human Genetics/ School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
authors.forename: Annette
authors.initials: A
authors.lastname: Uwineza
authors.affiliation: Center of Human Genetics/ School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
authors.forename: Leon
authors.initials: L
authors.lastname: Mutesa
authors.affiliation: Servicio de Genética Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
authors.forename: Angélica
authors.initials: A
authors.lastname: Moresco
authors.affiliation: Servicio de Genética Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
authors.forename: María Gabriela
authors.initials: MG
authors.lastname: Obregon
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Ogochukwu Jidechukwu
authors.initials: OJ
authors.lastname: Sokunbi
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Nnenna
authors.initials: N
authors.lastname: Kalu
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Daniel Akinsanya
authors.initials: DA
authors.lastname: Joseph
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Desmond
authors.initials: D
authors.lastname: Ikebudu
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Christopher Emeka
authors.initials: CE
authors.lastname: Ugwu
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Christy A N
authors.initials: CA
authors.lastname: Okoromah
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: Yonit A
authors.initials: YA
authors.lastname: Addissie
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Pardo
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: J Joseph
authors.initials: JJ
authors.lastname: Brough
authors.affiliation: Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taiwan.
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta M
authors.initials: KM
authors.lastname: Girisha
authors.affiliation: Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.
authors.forename: Siddaramappa Jagdish
authors.initials: SJ
authors.lastname: Patil
authors.affiliation: Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
authors.forename: Ivy S L
authors.initials: IS
authors.lastname: Ng
authors.affiliation: Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
authors.forename: Breana Cham Wen
authors.initials: BC
authors.lastname: Min
authors.affiliation: Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
authors.forename: Saumya S
authors.initials: SS
authors.lastname: Jamuar
authors.affiliation: Dr. Shroff Charity Eye Hospital, New Delhi, India.
authors.forename: Shailja
authors.initials: S
authors.lastname: Tibrewal
authors.affiliation: Dr. Shroff Charity Eye Hospital, New Delhi, India.
authors.forename: Batriti
authors.initials: B
authors.lastname: Wallang
authors.affiliation: Dr. Shroff Charity Eye Hospital, New Delhi, India.
authors.forename: Suma
authors.initials: S
authors.lastname: Ganesh
authors.affiliation: Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.
authors.forename: Nirmala D
authors.initials: ND
authors.lastname: Sirisena
authors.affiliation: Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
authors.affiliation: Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.
authors.forename: C Sampath
authors.initials: CS
authors.lastname: Paththinige
authors.affiliation: Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.
authors.forename: L B Lahiru
authors.initials: LB
authors.lastname: Prabodha
authors.affiliation: Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Brazil.
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
authors.affiliation: Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Premala
authors.initials: P
authors.lastname: Muthukumarasamy
authors.affiliation: Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Meow-Keong
authors.initials: MK
authors.lastname: Thong
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
authors.forename: Kelly L
authors.initials: KL
authors.lastname: Jones
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
authors.affiliation: Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
authors.forename: Ekanem Nsikak
authors.initials: EN
authors.lastname: Ekure
authors.affiliation: Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: Adebowale A
authors.initials: AA
authors.lastname: Adeyemo
authors.affiliation: Division of Genetics and Metabolism, Children's National Health System, Washington DC.
authors.forename: Marshall
authors.initials: M
authors.lastname: Summar
authors.affiliation: Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington DC.
authors.forename: Marius George
authors.initials: MG
authors.lastname: Linguraru
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D044382:Population Groups / Q000235:genetics / Q000706:statistics & numerical data*; D011159:Population Surveillance; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D015415:Biomarkers
keywords: diverse populations; down syndrome; facial analysis technology; trisomy 21