Systematic review of pharmacological treatments in fragile X syndrome

BMC Neurology

Volumn 9, Issue , 2009, Pages 53-

  Rueda, Jose Ramon ^a   Ballesteros, Javier ^a   Tejada, Maria Isabel ^b  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b HOSPITAL DE CRUCES   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

6 QUINOXALINECARBOXYLIC ACID PIPERIDIDE; DEXAMPHETAMINE; FOLIC ACID; LEVACECARNINE; METHYLPHENIDATE; PLACEBO;

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CLINICAL TRIAL; DRUG DOSE COMPARISON; DRUG EFFICACY; DRUG SAFETY; FRAGILE X SYNDROME; HUMAN; SYSTEMATIC REVIEW; UNSPECIFIED SIDE EFFECT;

ACETYLCARNITINE; DIOXOLES; FOLIC ACID; FRAGILE X SYNDROME; HUMANS; METHYLPHENIDATE; PIPERIDINES; TREATMENT OUTCOME;

EID: 70450252110     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-9-53     Document Type: Article

References (46)

1. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991, 65:905-914. 10.1016/0092-8674(91)90397-H, 1710175.
2. Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet Med 2001, 3:359-371.
3. Hagerman PJ. The fragile X prevalence paradox. J Med Genet 2008, 45:498-499. 10.1136/jmg.2008.059055, 2728763, 18413371.
4. Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. a literature review and modelling study. Health Technol Assess 2003, 7:1-106.
5. Hagerman RJ, Murphy MA, Wittenberger MD. A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet 1988, 30:377-392. 10.1002/ajmg.1320300138, 3052064.
6. Fryns JP. The fragile X syndrome. A study of 83 families. Clin Genet 1984, 26:497-528.
7. Clifford S, Dissanayake C, Bui QM, Huggins R, Taylor AK, Loesch DZ. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J Autism Dev Disord 2007, 37:738-747. 10.1007/s10803-006-0205-z, 17031449.
8. Hessl D, Goodlin-Jones B, Ferranti J, Bacalman S, Barbato I, Tassone F, Hagerman PJ, Herman H, Hagerman RJ. Autism profiles of males with fragile X syndrome. Am J Ment Retard 2008, 113:427-438. 10.1352/2008.113:427-438, 2629645, 19127654.
9. Bear MF. Therapeutic implications of the mGluR theory of fragile X mental retardation. Genes Brain Behav 2005, 4:393-398. 10.1111/j.1601-183X.2005.00135.x, 16098137.
10. Cornish K, Turk J, Hagerman R. The fragile X continuum: new advances and perspectives. J Intellect Disabil Res 2008, 52:469-482. 10.1111/j.1365-2788.2008.01056.x, 18444988.
11. Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics 2009, 123:378-390. 10.1542/peds.2008-0317, 19117905.
12. Berry-Kravis E, Potanos K. Psychopharmacology in fragile X syndrome. Present and future. MRDD Research Reviews 2004, 10:42-48.
13. Torrioli MG, Vernacotola S, Peruzzi L, Tabolacci E, Mila M, Militerni R, Musumeci S, Ramos FJ, Frontera M, Sorge G, Marzullo E, Romeo G, Vallee L, Veneselli E, Cocchi E, Garbarino E, Moscato U, Chiurazzi P, D'Iddio S, Calvani M, Neri G. A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys. Am J Med Genet A 2008, 146:803-812.
14. Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson SA, Hagerman R. Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol 2006, 16:525-540. 10.1089/cap.2006.16.525, 17069542.
15. Reiss AL, Hall SS. Fragile X syndrome: assessment and treatment implications. Child Adolesc Psychiatr Clin N Am 2007, 16:663-675. 10.1016/j.chc.2007.03.001, 17562585.
16. Valdovinos MG. Brief review of current research in FXS: implications for treatment with psychotropic medication. Res Dev Disabil 2007, 28:539-545. 10.1016/j.ridd.2006.09.001, 17034990.
17. Higgins JPT, Altman DG. Assessing risk of bias in included studies. Cochrane handbook for systematic reviews of interventions. Cochrane Book Series 2008, 187-241. Chichester, John Wiley and Sons Inc, Higgins JPTGS.
18. Hagerman RJ, McBogg P, Levitas A, McGravran L, Smith ACM, Berry R, Braden M, Van Norman K, Newall K, Matus I. Folic acid treatment of the fragile X syndrome. Am J Med Genet 1983, 35(274). Abstract 92A.
19. Cohen IL, Tsiouris JA, Pfadt A. Effects of long-acting propranolol on agonistic and stereotyped behaviors in a man with pervasive developmental disorder and fragile X syndrome: a double-blind, placebo-controlled study. J Clin Psychopharmacol 1991, 11:398-399.
20. Moher D, Cook DJ, Eastwood S, Olkin I, Rennie D, Stroup DF. Improving the quality of reports of meta-analyses of randomised controlled trials: the QUOROM statement. QUOROM Group. Br J Surg 2000, 87:1448-1454. 10.1046/j.1365-2168.2000.01610.x, 11091231.
21. Brown WT, Jenkins EC, Friedman E, Brooks J, Cohen IL, Duncan C, Hill AL, Malik MN, Morris V, Wolf E. Folic acid therapy in the fragile X syndrome. Am J Med Genet 1984, 17:289-297. 10.1002/ajmg.1320170121, 6711601.
22. Brown WT, Cohen IL, Fisch GS, Wolf-Schein EG, Jenkins VA, Malik MN, Jenkins EC. High dose folic acid treatment of fragile X males. Am J Med Genet 1986, 23:263-271. 10.1002/ajmg.1320230120, 3513568.
23. Carpenter NJ, Barber DH, Jones M, Lindley W, Carr C. Controlled six-month study of oral folic acid therapy in boys with fragile X-linked mental retardation. Am J Med Genet 1983, 35(243):82A.
24. Fisch GS, Cohen IL, Gross AC, Jenkins V, Jenkins EC, Brown WT. Folic acid treatment of fragile X males: a further study. Am J Med Genet 1988, 30:393-399. 10.1002/ajmg.1320300139, 3052065.
25. Hagerman RJ, Jackson AW, Levitas A, Braden M, McBogg P, Kemper M, McGavran L, Berry R, Matus I, Hagerman PJ. Oral folic acid versus placebo in the treatment of males with the fragile X syndrome. Am J Med Genet 1986, 23:241-262. 10.1002/ajmg.1320230119, 3513567.
26. Madison LS, Wells TE, Fristo TE, Benesch CG. A controlled study of folic acid treatment in three fragile X syndrome males. J Dev Behav Pediatr 1986, 7:253-256. 10.1097/00004703-198608000-00007, 3528223.
27. Strom CM, Brusca RM, Pizzi WJ. Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin) for the treatment of fragile X syndrome. Am J Med Genet 1992, 44:676-682. 10.1002/ajmg.1320440529, 1481832.
28. Rosenblatt DS, Duschenes EA, Hellstrom FV, Golick MS, Vekemans MJ, Zeesman SF, Andermann E. Folic acid blinded trial in identical twins with fragile X syndrome. Am J Hum Genet 1985, 37:543-552. 1684590, 3890529.
29. Froster-Iskenius U, Bodeker K, Oepen T, Matthes R, Piper U, Schwinger E. Folic acid treatment in males and females with fragile X syndrome. Am J Med Genet 1986, 23:273-289. 10.1002/ajmg.1320230121, 3513569.
30. Gillberg C, Wahlstrom J, Johansson R, Tornblom M, bertsson-Wikland K. Folic acid as an adjunct in the treatment of children with the autism fragile X syndrome (AFRAX). Dev Med Child Neurol 1986, 28:624-627.
31. Zarcone JR, Napolitano DA, Valdovinos MG. Measurement of problem behaviour during medication evaluations. J Intellect Disabil Res 2008, 52:1015-1028. 10.1111/j.1365-2788.2008.01109.x, 18717764.
32. Torrioli MG, Vernacotola S, Mariotti P, Bianchi E, Calvani M, de GA, Chiurazzi P, Neri G. Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome. Am J Med Genet 1999, 87:366-368. 10.1002/(SICI)1096-8628(19991203)87:4<366::AID-AJMG18>3.0.CO;2-F, 10588848.
33. Brodkin ES. Social behavior phenotypes in fragile X syndrome, autism, and the Fmr1 knockout mouse: theoretical comment on McNaughton et al. Behav Neurosci 2008, 122:483-489. 10.1037/0735-7044.122.2.483, 18410188.
34. Moher D, Schulz KF, Altman DG, . CONSORT GROUP Consolidated Standards of Reporting Trials) The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomized trials. Ann Intern Med 2001, 134:657-662.
35. Higgins JPT, Deeks JJ, Altman DG. Special topics in statistics. Cochrane handbook for systematic reviews of interventions 2008, 481-529. Chichester, John Wiley and Sons Inc, Higgins JPTGS.
36. Berry-Kravis E, Sumis A, Kim OK, Lara R, Wuu J. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord 2008, 38:1751-1757. 10.1007/s10803-008-0564-8, 18369716.
37. Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, Weiler IJ, Greenough WT. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr 2008, 29:293-302. 10.1097/DBP.0b013e31817dc447, 18698192.
38. Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman RJ. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet 2009, 46:266-271. 10.1136/jmg.2008.063701, 2658751, 19126569.
39. Kesler SR, Lightbody AA, Reiss AL. Cholinergic dysfunction in fragile X syndrome and potential intervention: a preliminary 1H MRS study. Am J Med Genet A 2009, 149(A):403-407.
40. Erickson CA, Mullett JE, McDougle CJ. Open-label memantine in fragile X syndrome. J Autism Dev Disord 2009, 19609663.
41. Bilousova TV, Dansie L, Ngo M, Aye J, Charles JR, Ethell DW, Ethell IM. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet 2009, 46:94-102. 10.1136/jmg.2008.061796, 18835858.
42. de Diego-Otero Y, Romero-Zerbo Y, el BR, Decara J, Sanchez L, Rodriguez-de FF, del Arco-Herrera I. Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency. Neuropsychopharmacology 2009, 34:1011-1026. 10.1038/npp.2008.152, 18843266.
43. Romero-Zerbo Y, Decara J, el Bekay R, Sanchez-Salido L, Del Arco-Herrera I, de Fonseca FR, de Diego-Otero Y. Protective effects of melatonin against oxidative stress in Fmr1 knockout mice: a therapeutic research model for the fragile X syndrome. J Pineal Res 2009, 46:224-234. 10.1111/j.1600-079X.2008.00653.x, 19141086.
44. Hall SS, DeBernardis GM, Reiss AL. The acquisition of stimulus equivalence in individuals with fragile X syndrome. J Intellect Disabil Res 2006, 50:643-651. 10.1111/j.1365-2788.2006.00814.x, 16901291.
45. Hall SS, Maynes NP, Reiss AL. Using percentile schedules to increase eye contact in children with fragile X syndrome. J Applied Behav Analysis 2009, 42:171-176.
46. Weiskop S, Richdale A, Matthews J. Behavioural treatment to reduce sleep problems in children with autism or fragile X syndrome. Dev Med Child Neurology 2005, 47:94-104.