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Computerized approach to X-linked mental retardation syndromes
1Department of Pediatrics, University of Miami School of Medicine, Florida 33101.
American Journal of Medical Genetics
|February 1, 1991
Summary
This study introduces a computer system for evaluating X-linked mental retardation (XLMR) using photographs and clinical data. It offers a flexible, objective method for diagnosing developmental abnormalities and comparing individuals and disorders.
Area of Science:
- Medical Informatics
- Genetics
- Developmental Biology
Background:
- X-linked mental retardation (XLMR) encompasses over 34 described syndromes.
- Objective evaluation of developmental abnormalities in XLMR is challenging.
- Existing diagnostic systems lack flexibility in comparing visual and clinical data.
Purpose of the Study:
- To develop and test a versatile computer system for evaluating developmental abnormalities in XLMR.
- To facilitate objective comparison of clinical data and photographs within families and across disorders.
- To create a valuable diagnostic and teaching aid for XLMR.
Main Methods:
- A Macintosh II computer system was utilized, incorporating a flatbed scanner for image and text entry.
- Enhanced system memory was added to improve photographic resolution.
- Custom programs were developed to enable keyword searches and facilitate data comparison.
Main Results:
- The system allows for easy interaction between descriptive terms and photographs.
- Rapid comparison of facial features and specific traits across multiple individuals is possible.
- Information can be compared both coded and uncoded, within families and between different XLMR syndromes.
Conclusions:
- The developed computer system offers an objective and versatile method for evaluating developmental abnormalities in XLMR.
- It provides greater flexibility than standard photographs or most existing computerized diagnostic systems.
- This approach has the potential to serve as a significant diagnostic and educational tool for XLMR.