Purpose

In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes. By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Condition

Eligibility

Eligible Ages
Under 18 Years
Eligible Genders
All
Accepts Healthy Volunteers
Yes

Inclusion Criteria

  • Pediatric subject with Down syndrome.
  • Healthy pediatric siblings of a subject with Down syndrome and/or other individuals with another genetic referral to serve as a control group.
  • Subject must be less than 18 years old.

Exclusion Criteria

  • Subjects 18 years or older.

Study Design

Phase
N/A
Study Type
Interventional
Allocation
Non-Randomized
Intervention Model
Parallel Assignment
Primary Purpose
Health Services Research
Masking
None (Open Label)

Arm Groups

ArmDescriptionAssigned Intervention
Active Comparator
Down syndrome
photographs of individuals less than 18 yo with Down syndrome
  • Device: photographs
    computer based program to analyze photographs (computer-aided diagnosis (CAD) software)
Active Comparator
Control group
photographs of individuals less than 18 yo with a genetic referral (not Down syndrome) or a healthy sibling to a child with Down syndrome
  • Device: photographs
    computer based program to analyze photographs (computer-aided diagnosis (CAD) software)

Recruiting Locations

Children's National and nearby locations

Children's National
Washington, District of Columbia 20010
Contact:
Sara Alyamani, BS
202-476-6099
salyaman@childrensnational.org

More Details

NCT ID
NCT02651493
Status
Recruiting
Sponsor
Kevin Cleary

Study Contact

Sara Alyamani, BS
202 476 6099
salyaman@childrensnational.org

Detailed Description

In this study, investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD) . Local texture features based on Contourlet transform and local binary pattern are investigated to represent the facial characteristics. A support vector machine classifier is then used to discriminate between normal and abnormal cases. Accuracy, precision and recall are used to evaluate the method. After validating the method, this technology will then be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes.

By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.