Giangreco et al developed a simple checklist to screen children for the Fragile X Syndrome. These can help to identify patients who should undergo testing for the disorder. The authors are from the University of Pittsburgh and the Children's Hospital of Pittsburgh.
Patient selection: children
Items for checklist:
(1) mental retardation
(2) family history of mental retardation
(3) large and/or prominent ears
(4) elongated face
(5) attention deficit hyperactivity disorder
(6) autistic-like behavior
Assessment
Points
absent
0
borderline
1
present
2
where:
• Additional findings in patients may include a simian crease, macroorchidism and hyperextensible joints but these findings were not used for the score.
total score =
= SUM(points for all 6 items)
Interpretation:
• minimum score: 0
• maximum score: 12
• A score >= 5 indicated a child who should be tested for the Fragile X syndrome.
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