Visit Our Blog
  • About FDNA®
  • Products
    • Face2Gene®
    • FDNA Health®
  • Contact
  • Blog
  • News & Publications
  • Blog

Categories
  • All
  • ACMG
  • Case Study
  • Diagnostic odyssey
  • Events/Conferences
  • Face2Gene
  • Geneticist profile
  • Genomics
  • Phenotyping
  • Rare Diseases
  • Scientific Abstracts
  • Talks
  • Technology
  • Uncategorized
  • Videos

S. Odent, et al. Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses

May 29, 2017

By FDNA Team

Scientific Abstracts
Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses
Keywords: autism; dysmorphology; Face2Gene
Authors: S. Tordjman1, C. Robert2, N. Fleischer3, C. Baumann4, L. Burglen5, D. Cohen6, D. Héron7, N. Pichard8, A. Verloes4, C. Quelin9, F. Demurger9, M. Fradin9, L. Pasquier9, S. ODENT9,10;
1Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Université de Rennes 1 and Centre Hospitalier Guillaume Régnier and Laboratoire Psychologie de la Perception, Université Paris Descartes CNRS UMR 8158, Rennes, France, 2CHU de Rennes. Hôpital Sud and Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, Rennes, France, 3FDNA Inc, Boston, MA, United States, 4Département de Génétique, CHU Paris – Hôpital Robert Debré, Paris, France, 5Centre de référence des malformations et maladies congénitales du cervelet et Service de Génétique, APHP, Hôpital Trousseau, Paris, France, 6Department of Child and Adolescent Psychiatry, AP-HP, GH Pitié-Salpétrière, CNRS FRE 2987, Université Pierre et Marie Curie, Paris, France, 7AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France, 8Laboratoire Psychologie de la Perception, Université Paris Descartes et CNRS UMR 8158, Paris, France, 9CHU de Rennes. Hôpital Sud, Service de génétique Cinique, Rennes, France, 10UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes1, Rennes, France.
Abstract: Background: Autism Spectrum Disorder (ASD) is defined according to DSM-5 and ICD-10 criteria as early social communication impairments and repetitive/restrictive behaviors or interests. Geneticists have advanced current knowledge on genetic syndromes associated with ASD. Clinical genetic examination searching for dysmorphic features and malformations is a very important step towards the identification of genetic disorders associated with ASD. Objective and Methods: to compare the etiological genetic hypotheses stated by clinical geneticists trained in dysmorphology to the ones resulting from the software program Face2Gene based on biometric analyses and algorithms. Clinical geneticists and Face2Gene analyses were both performed on the same facial photos of 79 children and adolescents with ASD and intellectual disability.Results: The qualitative variable of “clinical dysmorphy” observed by the geneticists was significantly and moderately correlated with the qualitative variable of “Face2Gene dysmorphy” (Phi coefficient = 0.35, p = 0.0039). The inter-judge agreement represented by the Cronbach’s Alpha coefficient was 0.51. Furthermore, there was no significant correlations between dysmorphism scores and autism severity ratings based on the ADOS (current severity), ADI-R past time (period of life from 4 to 5 years old), or ADI-R present time.Conclusion: this study highlights the need to conduct systematically clinical genetic examination searching for known genetic disorders for all individuals with ASD. Biometric analysis software can provide a helpful additional method, either used after clinical genetic evaluation to complete the diagnostic strategy of the geneticist, or used before clinical evaluation to sensitize the families to the interest of clinical genetic examination in ASD.
Presentation Time: Sunday, May 28, 2017, 4:45 PM – 5:45 PM

More entries about Scientific Abstracts

Events/Conferences
 

FDNA and Face2Gene Featured at ESHG

  A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s Read more

Scientific Abstracts
 

Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era

Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2. Carey JC. Abstract: The designation, Read more

Uncategorized
 

Y. Gurovich, et al. Next-Generation Phenotyping: A Performance Analysis

 

Scientific Abstracts
 

S. Odent, et al. Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses

Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses Read more

Scientific Abstracts
 

N. Ekhilevitch, et al. Automated patient matching from facial photos – initial feasibility study

Title: P14.075C – Automated patient matching from facial photos – initial feasibility study Automated patient matching from facial photos – Read more

Scientific Abstracts
 

S. B. Kamphausen, M. Zenker. From Face to Gene – Identifying the Genotype of RASopathies with FDNA. ESHG 2017

Title: P14.083C – From Face to Gene – Identifying the Genotype of RASopathies with FDNA Keywords: RASopathies; Facial Dysmorphology Novel Read more

Scientific Abstracts
 

M. A. Mencarelli, et al. Clinical Application of a Facial Dysmorphology Tool: a performance analysis

Title: P14.042B – Clinical Application of a Facial Dysmorphology Tool: a performance analysis Keywords: Facial Dysmorphology Tool Authors: D. Lopergolo1, Read more

Scientific Abstracts
 

L. Morlan. The utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability

Title: P14.041A – the utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & Read more

Scientific Abstracts
 

T. Liehr. Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos

Title: P14.003C – Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos Read more

Scientific Abstracts
 

Himanshu Goel, et al. Case study: Next-generation phenotyping complementing next generation sequencing

Abstract Number: (501) Case study: Next-generation phenotyping complementing next generation sequencing Topic: Clinical Genetics Presenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Read more

Scientific Abstracts
 

B. Russell, et al. Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool

Abstract Number: (384) Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Read more

  • Contact Us
  • Privacy Policy
  • Terms of Use
  • Careers at FDNA

Signup for News


* These fields are required.

© 2011-2023 FDNA INC. www.FDNA.com. All rights reserved.

Face2Gene is a search and reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking “Accept All”, you consent to the use of ALL the cookies. Check our Cookie Policy.
Cookie SettingsAccept All
Manage consent

Privacy Overview

This website uses cookies to improve your experience while you navigate through the website. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may affect your browsing experience.
Necessary
Always Enabled
Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously.
CookieDurationDescription
cookielawinfo-checkbox-analytics11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Analytics".
cookielawinfo-checkbox-functional11 monthsThe cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional".
cookielawinfo-checkbox-necessary11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookies is used to store the user consent for the cookies in the category "Necessary".
cookielawinfo-checkbox-others11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other.
cookielawinfo-checkbox-performance11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Performance".
viewed_cookie_policy11 monthsThe cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data.
Functional
Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features.
Performance
Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.
Analytics
Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc.
Advertisement
Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads.
Others
Other uncategorized cookies are those that are being analyzed and have not been classified into a category as yet.
SAVE & ACCEPT