Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
Copyright policy )Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
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.
- Vrije Universiteit Brussel Belgium
- University of Lubumbashi Congo (Democratic Republic of)
- Center for Human Genetics United States
- KU Leuven Belgium
- Universitair Ziekenhuis Leuven Belgium
Male, Down syndrome, BLACK, Genetics & genetic processes, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities, Génétique & processus génétiques, Down Syndrome/diagnosis, Intellectual Disability/diagnosis/epidemiology/physiopathology, Image Processing, Computer-Assisted, Child, Down Syndrome/diagnosis/epidemiology/physiopathology, African Continental Ancestry Group, Genetics & Heredity, Musculoskeletal Abnormalities/diagnosis, Intellectual Disability/diagnosis, dysmorphology, Life sciences, Muscular Atrophy, Child, Preschool, Sciences du vivant, young adult, Female, Life Sciences & Biomedicine, Adult, Abnormalities, Multiple/diagnosis, Child, preschool, Adolescent, Muscular Atrophy/diagnosis/epidemiology/physiopathology, European Continental Ancestry Group, Black People, Musculoskeletal Abnormalities/diagnosis/epidemiology/physiopathology, 22Q11.2 DELETION, 3105 Genetics, White People, Young Adult, Face/diagnostic imaging, AFRICAN-AMERICAN PATIENTS, Intellectual Disability, Humans, Abnormalities, Multiple, Face/diagnostic imaging/physiopathology, Face2Gene, 0604 Genetics, Science & Technology, 3202 Clinical sciences, Infant, Abnormalities, Multiple/diagnosis/epidemiology/physiopathology, 1103 Clinical Sciences, facial dysmorphism, Musculoskeletal Abnormalities, Craniofacial Abnormalities/diagnosis/epidemiology/physiopathology, Muscular Atrophy/diagnosis, Face, gestalt, Down Syndrome, DR Congo
Male, Down syndrome, BLACK, Genetics & genetic processes, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities, Génétique & processus génétiques, Down Syndrome/diagnosis, Intellectual Disability/diagnosis/epidemiology/physiopathology, Image Processing, Computer-Assisted, Child, Down Syndrome/diagnosis/epidemiology/physiopathology, African Continental Ancestry Group, Genetics & Heredity, Musculoskeletal Abnormalities/diagnosis, Intellectual Disability/diagnosis, dysmorphology, Life sciences, Muscular Atrophy, Child, Preschool, Sciences du vivant, young adult, Female, Life Sciences & Biomedicine, Adult, Abnormalities, Multiple/diagnosis, Child, preschool, Adolescent, Muscular Atrophy/diagnosis/epidemiology/physiopathology, European Continental Ancestry Group, Black People, Musculoskeletal Abnormalities/diagnosis/epidemiology/physiopathology, 22Q11.2 DELETION, 3105 Genetics, White People, Young Adult, Face/diagnostic imaging, AFRICAN-AMERICAN PATIENTS, Intellectual Disability, Humans, Abnormalities, Multiple, Face/diagnostic imaging/physiopathology, Face2Gene, 0604 Genetics, Science & Technology, 3202 Clinical sciences, Infant, Abnormalities, Multiple/diagnosis/epidemiology/physiopathology, 1103 Clinical Sciences, facial dysmorphism, Musculoskeletal Abnormalities, Craniofacial Abnormalities/diagnosis/epidemiology/physiopathology, Muscular Atrophy/diagnosis, Face, gestalt, Down Syndrome, DR Congo
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