title: Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.
abstract: The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.|Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.|Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.|Institut National de Recherche Biomédicale, Kinshasa, DR Congo.
authors.forename: A
authors.identifier: http://orcid.org/0000-0002-5468-8678
authors.initials: A
authors.lastname: Lumaka
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: N
authors.initials: N
authors.lastname: Cosemans
authors.affiliation: School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
authors.forename: A
authors.initials: A
authors.lastname: Lulebo Mampasi
authors.affiliation: Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.|Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
authors.forename: G
authors.initials: G
authors.lastname: Mubungu
authors.affiliation: School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
authors.forename: N
authors.initials: N
authors.lastname: Mvuama
authors.affiliation: Sendwe University Hospitals, University of Lubumbashi, Lubumbashi, DR Congo.
authors.forename: T
authors.initials: T
authors.lastname: Lubala
authors.affiliation: Sendwe University Hospitals, University of Lubumbashi, Lubumbashi, DR Congo.
authors.forename: S
authors.initials: S
authors.lastname: Mbuyi-Musanzayi
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Breckpot
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Holvoet
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: T
authors.initials: T
authors.lastname: de Ravel
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.affiliation: Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.affiliation: Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Butare, Rwanda.
authors.forename: L
authors.initials: L
authors.lastname: Mutesa
authors.affiliation: Département de Génétique, CHU Paris - Hôpital Robert Debré, Paris, France.
authors.forename: A
authors.identifier: http://orcid.org/0000-0003-4819-0264
authors.initials: A
authors.lastname: Verloes
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.|Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.|Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.|Institut National de Recherche Biomédicale, Kinshasa, DR Congo.
authors.forename: P
authors.initials: P
authors.lastname: Lukusa Tshilobo
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D044383:Black People; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D005145:Face / Q000000981:diagnostic imaging / Q000503:physiopathology; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D044465:White People; D055815:Young Adult
keywords: DR Congo; Down syndrome; Face2Gene; dysmorphology; facial dysmorphism; gestalt