Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Down syndrome, DR Congo, dysmorphology, facial dysmorphism, Face2Gene, gestalt, AFRICAN-AMERICAN PATIENTS, 22Q11.2 DELETION, BLACK, Abnormalities, Multiple, Adolescent, Adult, Black People, Child, Child, Preschool, Craniofacial Abnormalities, Down Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Intellectual Disability, Male, Muscular Atrophy, Musculoskeletal Abnormalities, White People, Young Adult, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

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 (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.