[A simplified six-item checklist for screening of fragile X syndrome].
OBJECTIVE
To investigate whether a simplified six-item checklist could be developed to improve the screening fragile X syndrome test result.


METHODS
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.


RESULTS
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%.


CONCLUSIONS
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.
Guo
Y
Y
Department of Paediatrics, PUMC Hospital, CAMS, PUMC, Beijing 100730, China.
Chai
J
J
Yao
D
D
Zhang
S
S
Huang
S
S
Zhao
S
S
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009098:Multiphasic Screening / Q000379:methods*; D012189:Retrospective Studies