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...

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Bibliographic Details
Published in:	Clinical genetics Vol. 92; no. 2; pp. 166 - 171
Main Authors:	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.
Format:	Journal Article Web Resource
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-08-2017 Wiley
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - epidemiology Abnormalities, Multiple - physiopathology Abnormalities, Multiple/diagnosis/epidemiology/physiopathology Adolescent Adult African Continental Ancestry Group Child Child, Preschool Children Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - epidemiology Craniofacial Abnormalities - physiopathology Craniofacial Abnormalities/diagnosis/epidemiology/physiopathology Down syndrome Down Syndrome - diagnosis Down Syndrome - epidemiology Down Syndrome - physiopathology Down Syndrome/diagnosis/epidemiology/physiopathology Down's syndrome DR Congo dysmorphology European Continental Ancestry Group Face - diagnostic imaging Face - physiopathology Face/diagnostic imaging/physiopathology Face2Gene facial dysmorphism Female Genetics & genetic processes gestalt Génétique & processus génétiques Humans Image Processing, Computer-Assisted Infant Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - physiopathology Intellectual Disability/diagnosis/epidemiology/physiopathology Life sciences Male Muscular Atrophy - diagnosis Muscular Atrophy - epidemiology Muscular Atrophy - physiopathology Muscular Atrophy/diagnosis/epidemiology/physiopathology Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - epidemiology Musculoskeletal Abnormalities - physiopathology Musculoskeletal Abnormalities/diagnosis/epidemiology/physiopathology Sciences du vivant Young Adult dysmorphology Down syndrome gestalt DR Congo Face2Gene facial dysmorphism
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Summary:	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.
Bibliography:	D. D. and K. D collaborated with FDNA® as members of the scientific advisory board. A. L., N. C., A. L. M., N. M., G. M., T. L., S. M. M., J. B., M. H., T. d. R., G. v. B., D. D, H. P., L. M., A. V., P. L. T. declare no conflict of interest. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 scopus-id:2-s2.0-85009455692
ISSN:	0009-9163 1399-0004 1399-0004
DOI:	10.1111/cge.12948