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Fragile X checklist.

R J Hagerman¹, K Amiri, A Cronister

¹Child Development Unit, Children's Hospital, Denver, CO 80218.

American Journal of Medical Genetics

|February 1, 1991

Summary

A checklist identifying fragile X syndrome (fra(X)) using physical and behavioral traits effectively screened males with learning disabilities. High scores indicated a significant likelihood of fra(X) positivity.

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Area of Science:

Genetics
Developmental Pediatrics
Clinical Diagnostics

Background:

Fragile X syndrome (fra(X)) is a genetic disorder causing intellectual disability.
Early identification of fra(X) is crucial for timely intervention.
Diagnostic tools are needed to screen individuals with learning disabilities.

Purpose of the Study:

To evaluate a 13-item checklist for screening fragile X syndrome (fra(X)) in males with mental retardation or severe learning disabilities.
To determine the diagnostic utility of combining physical and behavioral traits for fra(X).

Main Methods:

A prospective screening of 107 males with intellectual disabilities using a 13-item checklist.
Checklist completion preceded cytogenetic confirmation of fra(X).
Analysis of physical and behavioral manifestations differentiating fra(X)-positive and negative individuals.

Main Results:

Fifteen out of 107 males were confirmed as fra(X)-positive.
Key differentiating features included perseverative speech, large ears, large testicles, and tactile defensiveness.
A checklist score of 16 or higher yielded a significant rate (≥45%) of fra(X)-positive cases.

Conclusions:

The combined physical and behavioral checklist is a valuable tool for suggesting fragile X syndrome diagnosis.
The checklist aids in identifying high-risk patients among those with learning disabilities.
This screening method enhances early detection and management of fra(X).

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