Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

A Lumaka; N Cosemans; A Lulebo Mampasi; G Mubungu; N Mvuama; T Lubala; S Mbuyi-Musanzayi; J Breckpot; M Holvoet; T de Ravel; G Van Buggenhout; H Peeters; D Donnai; L Mutesa; A Verloes; P Lukusa Tshilobo; K Devriendt

doi:10.1111/cge.12948

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

A Lumaka, N Cosemans, A Lulebo Mampasi, G Mubungu, N Mvuama, T Lubala, S Mbuyi-Musanzayi, J Breckpot, M Holvoet, T de Ravel, G Van Buggenhout, H Peeters, D Donnai, L Mutesa, A Verloes, P Lukusa Tshilobo, K Devriendt

Research output: Contribution to journal › Article › peer-review

55 Citations (Scopus)

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.

Original language	English
Pages (from-to)	166-171
Number of pages	6
Journal	Clinical Genetics
Volume	92
Issue number	2
DOIs	https://doi.org/10.1111/cge.12948
Publication status	Published - Aug 2017

Bibliographical note

Keywords

Abnormalities, Multiple/diagnosis
Adolescent
Adult
African Continental Ancestry Group
Child
Child, Preschool
Craniofacial Abnormalities/diagnosis
Down Syndrome/diagnosis
European Continental Ancestry Group
Face/diagnostic imaging
Female
Humans
Image Processing, Computer-Assisted
Infant
Intellectual Disability/diagnosis
Male
Muscular Atrophy/diagnosis
Musculoskeletal Abnormalities/diagnosis
Young Adult

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10.1111/cge.12948

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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. (2017). Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. Clinical Genetics, 92(2), 166-171. https://doi.org/10.1111/cge.12948

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. / Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. In: Clinical Genetics. 2017 ; Vol. 92, No. 2. pp. 166-171.

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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.",

keywords = "Abnormalities, Multiple/diagnosis, Adolescent, Adult, African Continental Ancestry Group, Child, Child, Preschool, Craniofacial Abnormalities/diagnosis, Down Syndrome/diagnosis, European Continental Ancestry Group, Face/diagnostic imaging, Female, Humans, Image Processing, Computer-Assisted, Infant, Intellectual Disability/diagnosis, Male, Muscular Atrophy/diagnosis, Musculoskeletal Abnormalities/diagnosis, Young Adult",

author = "A Lumaka and N Cosemans and {Lulebo Mampasi}, A and G Mubungu and N Mvuama and T Lubala and S Mbuyi-Musanzayi and J Breckpot and M Holvoet and {de Ravel}, T and {Van Buggenhout}, G and H Peeters and D Donnai and L Mutesa and A Verloes and {Lukusa Tshilobo}, P and K Devriendt",

note = "{\textcopyright} 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2017",

month = aug,

doi = "10.1111/cge.12948",

language = "English",

volume = "92",

pages = "166--171",

journal = "Clinical Genetics",

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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 2017, 'Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator', Clinical Genetics, vol. 92, no. 2, pp. 166-171. https://doi.org/10.1111/cge.12948

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. / 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.

In: Clinical Genetics, Vol. 92, No. 2, 08.2017, p. 166-171.

Research output: Contribution to journal › Article › peer-review

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AU - Lumaka, A

AU - Cosemans, N

AU - Lulebo Mampasi, A

AU - Mubungu, G

AU - Mvuama, N

AU - Lubala, T

AU - Mbuyi-Musanzayi, S

AU - Breckpot, J

AU - Holvoet, M

AU - de Ravel, T

AU - Van Buggenhout, G

AU - Peeters, H

AU - Donnai, D

AU - Mutesa, L

AU - Verloes, A

AU - Lukusa Tshilobo, P

AU - Devriendt, K

PY - 2017/8

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N2 - 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.

AB - 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.

KW - Abnormalities, Multiple/diagnosis

KW - Adolescent

KW - Adult

KW - African Continental Ancestry Group

KW - Child

KW - Child, Preschool

KW - Craniofacial Abnormalities/diagnosis

KW - Down Syndrome/diagnosis

KW - European Continental Ancestry Group

KW - Face/diagnostic imaging

KW - Female

KW - Humans

KW - Image Processing, Computer-Assisted

KW - Infant

KW - Intellectual Disability/diagnosis

KW - Male

KW - Muscular Atrophy/diagnosis

KW - Musculoskeletal Abnormalities/diagnosis

KW - Young Adult

U2 - 10.1111/cge.12948

DO - 10.1111/cge.12948

M3 - Article

C2 - 27925162

VL - 92

SP - 166

EP - 171

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

ER -

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Abstract

Bibliographical note

Keywords

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