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Original ArticleOpen Access
A Clinical Checklist for Fragile X Syndrome : Screening of Thai Boys with Developmental Delay of Unknown Cause
Limprasert P 
,
Ruangdaraganon N ,
Vasiknanonte P ,
Sura T ,
Jaruratanasirikul S ,
Sriwongpanich N ,
Sriplung H
,
Ruangdaraganon N ,
Vasiknanonte P ,
Sura T ,
Jaruratanasirikul S ,
Sriwongpanich N ,
Sriplung H The 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 เธ—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.
Key word : Clinical
Checkli.~t.
Fragile X, Mental Retardation,
FMRJ
Gene
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 เธ—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.
Key word : Clinical
Checkli.~t.
Fragile X, Mental Retardation,
FMRJ
Gene
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