Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects

Toni Kasole Lubala; Tony Kayembe-Kitenge; Gerrye Mubungu; Aimé Lumaka; Gray Kanteng; Sarah Savage; Oscar Luboya; Randi Hagerman; Koenraad Devriendt; Prosper Lukusa-Tshilobo

doi:10.1016/j.ejmg.2023.104819

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects

Eur J Med Genet. 2023 Sep;66(9):104819. doi: 10.1016/j.ejmg.2023.104819. Epub 2023 Jul 31.

Authors

Affiliations

¹ Division of Dysmorphology & Birth Defects, Department of Pediatrics, University of Lubumbashi, Democratic Republic of the Congo.
² Unit of Toxicology and Environment, School of Public Health, University of Lubumbashi, Democratic Republic of the Congo; Center for Environment and Health, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium; Higher Institute of Medical Techniques, Lubumbashi, Democratic Republic of the Congo. Electronic address: tonykayemb@gmail.com.
³ Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, National Institute for Biomedical Research (NIBR), Democratic Republic of the Congo; Center for Human Genetics, University Hospital Leuven, University of Leuven, Belgium.
⁴ Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, National Institute for Biomedical Research (NIBR), Democratic Republic of the Congo; Center for Human Genetics, University Hospital Leuven, University of Leuven, Belgium; Department of Biomedical and Preclinical Sciences, GIGA-Rm Laboratory of Human Genetics, University of Liège, Liège, Belgium.
⁵ FDNA Inc., Boston, MA, USA.
⁶ Division of Dysmorphology & Birth Defects, Department of Pediatrics, University of Lubumbashi, Democratic Republic of the Congo; Higher Institute of Medical Techniques, Lubumbashi, Democratic Republic of the Congo.
⁷ Department of Pediatrics, MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA.
⁸ Center for Human Genetics, University Hospital Leuven, University of Leuven, Belgium.

PMID: 37532084
DOI: 10.1016/j.ejmg.2023.104819

Abstract

Background: Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of this pilot study was to test Face2Gene's recognition performance on Bantu Congolese subjects with Fragile X syndrome (FXS) as compared to Congolese subjects with intellectual disability but without FXS (non-FXS).

Method: Frontal facial photograph from 156 participants (14 patients with FXS and 142 controls) predominantly young-adults to adults, median age 18.9 age range 4-39yo, were uploaded. Automated face analysis was conducted by using the technology used in proprietary software tools called Face2Gene CLINIC and Face2Gene RESEARCH (version 17.6.2). To estimate the statistical power of the Face2Gene technology in distinguishing affected individuals from controls, a cross validation scheme was used.

Results: The similarity seen in the upper facial region (of males and females) is greater than the similarity seen in other parts of the face. Binary comparison of subjects with FXS versus non-FXS and subjects with FXS versus subjects with Down syndrome reveal an area under the curve values of 0.955 (p = 0.002) and 0.986 (p = 0.003).

Conclusion: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.

Keywords: DR Congo; Face2Gene; Fragile X syndrome; Screening.

MeSH terms

Adolescent
Adult
Down Syndrome*
Female
Fragile X Syndrome* / diagnosis
Fragile X Syndrome* / genetics
Humans
Image Processing, Computer-Assisted
Intellectual Disability* / diagnosis
Male
Pilot Projects