A Clinical Checklist for Fragile X Syndrome : Screening
of Thai Boys with Developmental Delay of Unknown
Cause
PORNPROT LIMPRASERT, M.D., Ph.D.*,
PUNNEE V ASIKNANONTE, M.D.***,
SOMCHIT JARURATANASIRIKUL, M.D.***,
HUTCHA SRIPLUNG, M.D.*
NICHARA RUANGDARAGANON, M.D.**,
THANY ACHAI SURA, M.D.**** ,
NOPPAWON SRIWONGPANICH, M.D.*****,
Affiliation : * Department of Pathology, Faculty of Medicine, Prince of Songkla University,
** Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital,
*** Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla 90 II 0,
**** Department oflntemal Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400.
***** Rachanukul Hospital, Bangkok 10400, Thailand
AbstractThe aim of this study was to determine a cost-effective clinical checklist for fragile X
syndrome (FXS) screening in a Thai male pediatric population with developmental delay of
unknown cause. We studied 179 non-FXS male patients and 27 FXS patients from 18 families
(age <= 15 years). A six-item clinical checklist was used including family history (FH), long and
narrow face (F), prominent and large ears (E), attention deficit/hyperactivity (AH), autistic-like
behavior (AT) and testicular volume (T). These were scored as 0 if absent, I if borderline, and 2
if present. All patients were tested by using PCR and/or southern blot for the FMRJ gene. We
used a logistic regression model from a computer program to analyze the data (Stata, version 5.0).
We used logistic regression with cluster in the same family (average score) to ·eliminate bias
from the related FXS cases. We found that a five-item checklist, 2FH + F + 0.5E + 2AH + T =total
score, was the best modeL When we used this clinical checklist with a threshold of total score
of 4, 78.7 per cent of the screened cases with total scores <= 4 could be eliminated as negative
cases. In addition, all positive FXS cases had total scores > 4. We propose this five-item model
for. FXS screening in clinical pediatric practice, particularly from Asian population settings.
Keywords : Clinical Checkli.~t. Fragile X, Mental Retardation, FMRJ Gene
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