Digital Dysmorphology Project

Kevin Cleary

Status: Enrolling

Conditions: Down Syndrome

Treatments: Device: photographs

Study type: Interventional

Funder types: Other

Identifiers

NCT02651493

Pro00003506.

Details and patient eligibility

About

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.

Full 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.

Enrollment: 750 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Health Services Research

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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750 participants in 2 patient groups

Down syndrome

Active Comparator group

Description:

photographs of individuals less than 18 yo with Down syndrome

Treatment:

Device: photographs

Control group

Active Comparator group

Description:

photographs of individuals less than 18 yo with a genetic referral (not Down syndrome) or a healthy sibling to a child with Down syndrome

Treatment:

Device: photographs