Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
| Autor: | Lumaka, A, Cosemans, N, Lulebo Mampasi, A, Mubungu, G, Mvuama, N, Lubala, T, Mbuyi-Musanzayi, S, Breckpot, J, Holvoet, M, de Ravel, T, Van Buggenhout, G, Peeters, H, Donnai, D, Mutesa, L, Verloes, A, Lukusa Tshilobo, P, Devriendt, K |
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| Přispěvatelé: | Faculty of Sciences and Bioengineering Sciences, Metajuridica, Faculty of Law and Criminology, Fundamental rights centre, Clinical sciences, Medical Genetics, Faculty of Engineering, Faculty of Medicine and Pharmacy |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male Abnormalities Multiple/diagnosis Musculoskeletal Abnormalities/diagnosis Adolescent Child preschool European Continental Ancestry Group Intellectual Disability/diagnosis Infant Craniofacial Abnormalities/diagnosis Muscular Atrophy/diagnosis Face/diagnostic imaging Down Syndrome/diagnosis Image Processing Computer-Assisted Humans young adult Female Child African Continental Ancestry Group |
| Popis: | 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 (5 from Africa and 5 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. ispartof: Clinical Genetics vol:92 issue:2 pages:166-171 ispartof: location:Denmark status: published |
| Databáze: | OpenAIRE |
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