[A simplified six-item checklist for screening of fragile X syndrome]

To investigate whether a simplified six-item checklist could be developed to improve the screening fragile X syndrome test result.

Nine clinical characteristics were selected from patient records of 190 male and 18 female pediatrics for fragile X screening test were analyzed. The characteristics included mental retardation, family history of mental retardation, elongated face, large or prominent ears, attention deficit hyperactivity disorder, Autistic-like behavior, simian crease, macroorchidism, and hyperextensible joints.

Seven cases were diagnosed with fragile X syndrome by Southern analysis on PCR product. Among the nine characteristics, simian crease, macroorchidism, and hyperextensible joints were eliminated, because of low frequency and statistical insignificance. Using remaining six-item clinical checklist, if a score of 6 or more was used as the criteria for screening fragile X test, about 60% of this test in our cases could have been eliminated clinically without missing any positive cases. Thereby the proportion of case with positive results improved 8.8%.

With our simplified six-item clinical checklist, 60% of testing could have been eliminated clinically, thereby improving the effectiveness of fragile X screening test and promoting the proportion of cases with positive results in two groups.