AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

被引:2
作者
Hennocq, Quentin [1 ,2 ,3 ]
Bongibault, Thomas [1 ,3 ]
Marlin, Sandrine [1 ,4 ]
Amiel, Jeanne [1 ,4 ]
Attie-Bitach, Tania [1 ,4 ]
Baujat, Genevieve [1 ,4 ]
Boutaud, Lucile [4 ]
Carpentier, Georges [5 ]
Corre, Pierre [6 ,7 ]
Denoyelle, Francoise [8 ]
Delbrah, Francois Djate [1 ]
Douillet, Maxime [1 ]
Galliani, Eva [2 ]
Kamolvisit, Wuttichart [9 ,10 ]
Lyonnet, Stanislas [1 ,4 ]
Milea, Dan [11 ]
Pingault, Veronique [1 ,4 ]
Porntaveetus, Thantrira [9 ,10 ]
Touzet-Roumazeille, Sandrine [5 ]
Willems, Marjolaine [12 ]
Picard, Arnaud [2 ]
Rio, Marlene [1 ,4 ]
Garcelon, Nicolas [1 ]
Khonsari, Roman H. [1 ,2 ,3 ]
机构
[1] INSERM, Imagine Inst, UMR1163, Paris, France
[2] Univ Paris Cite, Hop Necker Enfants Malad, AP HP, Serv Chirurg Maxillofaciale & Chirurg Plast,Ctr Re, Paris, France
[3] Univ Paris Cite, Hop Necker Enfants Malad, AP HP, Fac Med,Lab Forme & Croissance Crane, Paris, France
[4] Univ Paris Cite, Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares,Fac Med, Paris, Paris, France
[5] Univ Lille, Serv Chirurg Maxillofaciale & Stomatol, CHU Lille, Controlled Drug Delivery Syst & Biomat U1008,INSER, Lille, France
[6] INSERM UMR U1229, Dept Oral & Maxillofacial Surg, Regenerat Med & Skeleton RMeS, Nantes, France
[7] Nantes Univ, Dept Oral & Maxillofacial Surg, CHU Nantes, Nantes, France
[8] Hop Necker Enfants Malad, AP HP, Dept Paediat Otolaryngol, Paris, France
[9] Chulalongkorn Univ, Fac Med, Ctr Excellence Med Genom, Dept Pediat, Bangkok, Thailand
[10] Chulalongkorn Univ, Fac Dent, Ctr Excellence Genom & Precis Dent, Dept Physiol, Bangkok, Thailand
[11] Singapore Natl Eye Ctr, Duke NUS Med Sch, Singapore Eye Res Inst, Singapore, Singapore
[12] Univ Montpellier, Hop Arnaud Villeneuve, Inst Neurosci Montpellier, Dept Genet Clin, Montpellier, France
来源
FRONTIERS IN PEDIATRICS | 2023年 / 11卷
关键词
AI; machine learning; dysmorphology; craniofacial malformation; MFDM; CHARGE SYNDROME; HAPLOINSUFFICIENCY; PHENOTYPE; INDIVIDUALS; MUTATIONS;
D O I
10.3389/fped.2023.1171277
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes.Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients. We extracted 48 patients completely independent of the training set, with only one photograph per ear per patient. After a CNN-(Convolutional Neural Network) based ear detection, the images were automatically landmarked. Generalized Procrustes Analysis was then performed, along with a dimension reduction using PCA (Principal Component Analysis). The principal components were used as inputs in an eXtreme Gradient Boosting (XGBoost) model, optimized using a 5-fold cross-validation. Finally, the model was tested on an independent validation set.Results: We trained the model on 1,592 ear photographs, corresponding to 1,296 control ears, 105 MFDM, 33 NAFD, 70 TC and 88 CHARGE syndrome ears. The model detected MFDM with an accuracy of 0.969 [0.838-0.999] (p < 0.001) and an AUC (Area Under the Curve) of 0.975 within controls (binary classification). Balanced accuracies were 0.811 [0.648-0.920] (p = 0.002) in a first multiclass design (MFDM vs. controls and differential diagnoses) and 0.813 [0.544-0.960] (p = 0.003) in a second multiclass design (MFDM vs. differential diagnoses).Conclusion: This is the first AI-based syndrome detection model in dysmorphology based on the external ear, opening promising clinical applications both for local care and referral, and for expert centers.
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页数:11
相关论文
共 59 条
  • [1] Abdollahi Fakhim Shahin, 2012, Iran J Otorhinolaryngol, V24, P45
  • [2] Menpo: A Comprehensive Platform for Parametric Image Alignment and Visual Deformable Models
    Alabort-i-Medina, Joan
    Antonakos, Epameinondas
    Booth, James
    Snape, Patrick
    Zafeiriou, Stefanos
    [J]. PROCEEDINGS OF THE 2014 ACM CONFERENCE ON MULTIMEDIA (MM'14), 2014, : 679 - 682
  • [3] geomorph v4.0 and gmShiny: Enhanced analytics and a new graphical interface for a comprehensive morphometric experience
    Baken, Erica K.
    Collyer, Michael L.
    Kaliontzopoulou, Antigoni
    Adams, Dean C.
    [J]. METHODS IN ECOLOGY AND EVOLUTION, 2021, 12 (12): : 2355 - 2363
  • [4] INTRACLASS CORRELATION COEFFICIENT AS A MEASURE OF RELIABILITY
    BARTKO, JJ
    [J]. PSYCHOLOGICAL REPORTS, 1966, 19 (01) : 3 - &
  • [5] Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
    Bernier, Francois P.
    Caluseriu, Oana
    Ng, Sarah
    Schwartzentruber, Jeremy
    Buckinghams, Kati J.
    Innes, A. Micheil
    Jabs, Ethylin Wang
    Innis, Jeffrey W.
    Schuette, Jane L.
    Gorski, Jerome L.
    Byers, Peter H.
    Andelfinger, Gregor
    Siu, Victoria
    Lauzon, Julie
    Fernandez, Bridget A.
    McMillin, Margaret
    Scott, Richard H.
    Racher, Hilary
    Majewski, Jacek
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael J.
    Parboosingh, Jillian S.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (05) : 925 - 933
  • [6] CHARGE syndrome
    Blake, Kim D.
    Prasad, Chitra
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)
  • [7] Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
    Bukowska-Olech, Ewelina
    Materna-Kiryluk, Anna
    Walczak-Sztulpa, Joanna
    Popiel, Delfina
    Badura-Stronka, Magdalena
    Koczyk, Grzegorz
    Dawidziuk, Adam
    Jamsheer, Aleksander
    [J]. FRONTIERS IN GENETICS, 2020, 11
  • [8] The importance of race and ethnic background in biomedical research and clinical practice
    Burchard, EG
    Ziv, E
    Coyle, N
    Gomez, SL
    Tang, H
    Karter, AJ
    Mountain, JL
    Pérez-Stable, EJ
    Sheppard, D
    Risch, N
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (12) : 1170 - 1175
  • [9] Two cases of CHARGE syndrome with multiple congenital anomalies
    Chang, Joo Hyun
    Park, Dong Ho
    Shin, Jae Pil
    Kim, In Taek
    [J]. INTERNATIONAL OPHTHALMOLOGY, 2014, 34 (03) : 623 - 627
  • [10] XGBoost: A Scalable Tree Boosting System
    Chen, Tianqi
    Guestrin, Carlos
    [J]. KDD'16: PROCEEDINGS OF THE 22ND ACM SIGKDD INTERNATIONAL CONFERENCE ON KNOWLEDGE DISCOVERY AND DATA MINING, 2016, : 785 - 794