A clinical checklist for fragile X syndrome : Screening of Thai boys with developmental delay of unknown cause

Journal of the Medical Association of Thailand

Volumn 83, Issue 10, 2000, Pages 1260-1266

  Limprasert, Pornprot ^a   Vasiknanonte, Punnee ^a   Jaruratanasirikul, Somchit ^a   Sriplung, Hutcha ^a   Ruangdaraganon, Nichara ^b   Sura, Thanyachai ^b   Sriwongpanich, Noppawon ^c  

^a PRINCE OF SONGKLA UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

^c Rachanukul Hospital   (Thailand)

Author keywords

Clinical Checklist; FMRI Gene; Fragile X; Mental Retardation

Indexed keywords

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN;

ADOLESCENT; ARTICLE; CHILD; COMPARATIVE STUDY; DEVELOPMENTAL DISORDER; FRAGILE X SYNDROME; GENETIC SCREENING; GENETICS; HUMAN; INCIDENCE; INFANT; MALE; METHODOLOGY; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SOUTHERN BLOTTING; STATISTICAL MODEL; THAILAND;

ADOLESCENT; BLOTTING, SOUTHERN; CHILD; DEVELOPMENTAL DISABILITIES; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; INCIDENCE; INFANT; LOGISTIC MODELS; MALE; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RNA-BINDING PROTEINS; THAILAND;

EID: 0034294997     PISSN: 01252208     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996; 64:196-7.
2. Morton JE, Bundey S, Webb TP, MacDonald F, Rindl PM, Bullock S. Fragile X syndrome is less common than previously estimated. J Med Genet 1997;34:1-5.
3. de Vries BBA, van den Ouweland AMW, Mohkamsing S, et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Am J Hum Genet 1997;61:660-7.
4. Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A, eds. Fragile X syndrome: diagnosis, treatment and research. 2nd ed. Baltimore: Johns Hopkins University Press, 1996:3-87.
5. Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
6. Pieretti M, Zhang F, Fu YH, et al. Absence of expression of the FMR-I gene in fragile X syndrome. Cell 1991;66:817-22.
7. Limprasert P, Ruangdaraganon N, Sura T, Vasiknanonte P, Jinorose U. Molecular screening for fragile X sndrome in Thailand. Southeast Asian J Trop Med Pub Health 1999;30 (suppl 2) : 172-5.
8. Thake A, Todd J, Bundey S, Webb T. Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy? Arch Dis Child 1985:60:1001-7.
9. Simko A, Hornstein L, Soukup S, Bagamery N. Fragile X syndrome: recognition in young children. Pediatrics 1989;83:547-52.
10. Nolin SL, Snider DA, Jenkins EC, et al. Fragile X screening program in New York State. Am J Med Genet 1991;38:251-5.
11. Hagerman RJ, Amiri K, Cronister A. Fragile X checklist. Am J Med Genet 1991:38:283-7.
12. Laing S, Partington M, Robinson H, Turner G. Clinical screening score for the fragile X (Martin Bell) syndrome. Am J Med Genet 1991:38:256-9.
13. Bulter MG, Mangrum T, Gupta R, Singh DN. A 15-item checklist for screening mentally retarded males for the fragile X syndrome. Clin Genet 1991;39:347-54.
14. Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL. A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr 1996;129: 611-4.
15. Arvio M, Peippo M, Simola KOJ. Applicability of a checklist for clinical screening of the fragile X syndrome. Clin Genet 1997;52:211-5.
16. Hecimovic S, Barisic I, Pavelic K. DNA analysis of the fragile X syndrome in an at risk pediatric population in Croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies. Hum Hered 1998;48:256-65.
17. Butler MG, Brunschwig A, Miller LK, Hagerman RJ. Standards for selected anthropometric measurements in males with the fragile X syndrome. Pediatrics 1992;89:1059-62.
18. American Psychiatric Association. Diagnostic statistical manual disorders. 4th ed. Washington DC: American Association Press, 1994.
19. Brown WT. Molecular analysis of fragile X syndrome. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR, eds. Current protocols in human genetics. New York: John Wiley and Sons, 1994; 9.5.1-9.5.14.
20. Kleinbaum DG, Kupper LL, Muller KE. Applied regression analysis and other multivariable methods. Boston: PWS-KENT, 1988;512-4.
21. StataCrop: Stata statistical software, release 5.0. College Station, Texas: Stata Corporation, 1997.
22. Curry CJ, Stevenson RE, Aughton D, et al. Evaluation of mental retardation: recommendations of consensus conference. Am J Med Genet 1997; 72:468-77.