THE
SCREENING DIAGNOSIS AND TREATMENT OF FRAGILE X SYNDROME
Guo YZ1, Chai JY2, Zhang
SP1, Yao D1, Huang SZ2, Zhao SM1
1 Peking Union Medical
College Hospital, Beijing, China.
2 Institute of Basic
Sciences, Beijing, China
Objective: The aim of
this project was to study the screening, diagnosis and treatment of fragile
X syndrome.
Methods: Six clinical characteristics from
special patient records of 190 male and 18 female pediatrics for fragile X
testing were analyzed. The characteristics included mental retardation;
family history of mental retardation; elongated face; large or prominent
ears; attention deficit hyperactivity disorder and Autistic- like behavior.
The disease is screened with PCR-amplified to detect (CGG) n repeat
sequences; diagnosed with PCR-Southern hybridization. Treated by medicine
of Folinic Acid and early intervention
Result: 7 cases were
diagnosed with fragile X syndrome by Southern analysis on PCR product. Using our simplified six-item
clinical checklist screening fragile X testing, about more than 60% of this
test in our cases could have been eliminated clinically without missing any
positive cases. 6 cases were treated with Folinic acid.
Conclusion: Our
simplified six-item clinical checklist, obviously increased the proportion
of cases with positive FRAXA. The PCR method is fast, simple and useful in
screening FRAXA .It is effective to treat FRAXA with the Folinic acid.