Fragile X syndrome: A psychiatric perspective

Results and Problems in Cell Differentiation

Volumn 54, Issue , 2012, Pages 281-295

  Tranfaglia, Michael R ^a  

^a FRAXA Research Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR; FEMALE; FRAGILE X SYNDROME; HUMAN; MALE; MOOD DISORDER; MOUSE; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; PSYCHOLOGICAL ASPECT;

ANIMALS; ANXIETY DISORDERS; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BEHAVIOR; FEMALE; FRAGILE X SYNDROME; HUMANS; MALE; MICE; MOOD DISORDERS; PHENOTYPE;

EID: 80455125778     PISSN: 00801844     EISSN: 18610412     Source Type: Book Series    
DOI: 10.1007/978-3-642-21649-7_16     Document Type: Article

References (73)

1. Backes M, Genç B, Schreck J, Doerfler W, Lehmkuhl G, von Gontard A (2000) Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am J Med Genet 95(2):150-156
2. Bailey DB Jr, Hatton DD, Skinner M, Mesibov G (2001) Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. J Autism Dev Disord 31(2):165-174
3. Baumgardner TL, Reiss AL, Freund LS, Abrams MT (1995) Specification of the neurobehavioral phenotype in males with fragile X syndrome. Pediatrics 95(5):744-752
4. Berry-Kravis E, Potanos K (2004) Psychopharmacology in fragile X syndrome - present and future. Ment Retard Dev Disabil Res Rev 10(1):42-48
5. Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, Weiler IJ, Greenough WT (2008) Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr 29(4):293-302
6. Blomquist HK, Bohman M, Edvinsson SO, Gillberg C, Gustavson KH, Holmgren G, Wahlström J (1985) Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet 27(2):113-117
7. Borghgraef M, Fryns JP, Dielkens A, Pyck K, Van den Berghe H (1987) Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients. Clin Genet 32(3):179-186
8. Boyle L, Kaufmann WE (2010) The behavioral phenotype of FMR1 mutations. Am J Med Genet Part C Semin Med Genet 154C:469-476
9. Bregman JD, Leckman JF, Ort SI (1988) Fragile X syndrome: genetic predisposition to psychopathology. J Autism Dev Disord 18(3):343-354
10. Brown WT, Friedman E, Jenkins EC, Brooks J, Wisniewski K, Raguthu S, French JH (1982a) Association of fragile X syndrome with autism. Lancet 1(8263):100
11. Brown WT, Jenkins EC, Friedman E, Brooks J, Wisniewski K, Raguthu S, French J (1982b) Autism is associated with the fragile-X syndrome. J Autism Dev Disord 12(3):303-308
12. Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Schein EG, Gross A, Waterhouse L, Fein D, Mason-Brothers A, Ritvo E et al (1986) Fragile X and autism: a multicenter survey. Am J Med Genet 23(1-2):341-352
13. Choi CH, Schoenfeld BP, Bell AJ, Hinchey P, Kollaros M, Gertner MJ, Woo NH, Tranfaglia MR, Bear MF, Zukin RS, McDonald TV, Jongens TA, McBride SM (2011) Pharmacological reversal of synaptic plasticity deficits in the mouse model of Fragile X syndrome by group II mGluR antagonist or lithium treatment. Brain Res 1380:106-119
14. D'Hulst C, De Geest N, Reeve SP, Van Dam D, De Deyn PP, Hassan BA, Kooy RF (2006) Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res 1121(1): 238-245
15. Dockendorff TC, Su HS, McBride SM, Yang Z, Choi CH, Siwicki KK, Sehgal A, Jongens TA (2002) Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34(6):973-984
16. Einfeld SL, Tonge BJ, Florio T (1994) Behavioural and emotional disturbance in fragile X syndrome. Am J Med Genet 51(4):386-391
17. Einfeld S, Tonge B, Turner G (1999) Longitudinal course of behavioral and emotional problems in fragile X syndrome. Am J Med Genet 87(5):436-439
18. El Idrissi A, Ding XH, Scalia J, Trenkner E, Brown WT, Dobkin C (2005) Decreased GABAA receptor expression in the seizure-prone fragile X mouse. Neurosci Lett 377(3):141-146
19. Erickson CA, Stigler KA, Posey DJ, McDougle CJ (2010) Aripiprazole in autism spectrum disorders and fragile X syndrome. Neurotherapeutics 7(3):258-263
20. Fatemi SH, Kneeland RE, Liesch SB, Folsom TD (2010) Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophr Res 124(1-3):246-247
21. Fisch GS, Cohen IL, Wolf EG, Brown WT, Jenkins EC, Gross A (1986) Autism and the fragile X syndrome. Am J Psychiatry 143(1):71-73
22. Fryns JP (1984) The fragile X syndrome. A study of 83 families. Clin Genet 26(6):497-528
23. Fryns JP, Jacobs J, Kleczkowska A, van den Berghe H (1984) The psychological profile of the fragile X syndrome. Clin Genet 25(2):131-134
24. Fulks JL, O'Bryhim BE,Wenzel SK, Fowler SC,Vorontsova E, Pinkston JW, OrtizAN, JohnsonMA (2010)Dopamine release and uptake impairments and behavioral alterations observed inmice that model fragile X mental retardation syndrome. ACS Chem Neurosci 1(10):679-690
25. Gibson JR, Bartley AF, Hays SA, Huber KM (2008) Imbalance of neocortical excitation and inhibition and altered UP states reflect network hyperexcitability in the mouse model of fragile X syndrome. J Neurophysiol 100(5):2615-2626
26. Gillberg C, Persson E, Wahlström J (1986) The autism-fragile-X syndrome (AFRAX): a population- based study of ten boys. J Ment Defic Res 30(Pt 1):27-39
27. Hagerman RJ, Murphy MA, Wittenberger MD (1988) A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet 30(1-2):377-392
28. Hagerman RJ, Miller LJ, McGrath-Clarke J, Riley K, Goldson E, Harris SW, Simon J, Church K, Bonnell J, Ognibene TC, McIntosh DN (2002) Influence of stimulants on electrodermal studies in fragile X syndrome. Microsc Res Tech 57(3):168-173
29. 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 (2009) Advances in the treatment of fragile X syndrome. Pediatrics 123(1):378-390
30. Hall S, DeBernardis M, Reiss A (2006) Social escape behaviors in children with fragile X syndrome. J Autism Dev Disord 36(7):935-947
31. Hall SS, Lightbody AA, Reiss AL (2008) Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard 113(1):44-53
32. Hall SS, Lightbody AA, Huffman LC, Lazzeroni LC, Reiss AL (2009) Physiological correlates of social avoidance behavior in children and adolescents with fragile x syndrome. J Am Acad Child Adolesc Psychiatry 48(3):320-329
33. Hall SS, Lightbody AA, Hirt M, Rezvani A, Reiss AL (2010) Autism in fragile X syndrome: a category mistake? J Am Acad Child Adolesc Psychiatry 49(9):921-933
34. Hessl D, Glaser B, Dyer-Friedman J, Blasey C, Hastie T, Gunnar M, Reiss AL (2002) Cortisol and behavior in fragile X syndrome. Psychoneuroendocrinology 27(7):855-872
35. essl D, Tassone F, Cordeiro L, Koldewyn K, McCormick C, Green C, Wegelin J, Yuhas J, Hagerman RJ (2008) Brief report: aggression and stereotypic behavior in males with fragile X syndrome-moderating secondary genes in a "single gene" disorder. J Autism Dev Disord 38(1):184-189
36. King BH, Hollander E, Sikich L, McCracken JT, Scahill L, Bregman JD, Donnelly CL, Anagnostou E, Dukes K, Sullivan L, Hirtz D, Wagner A, Ritz L, Psychopharmacology Network STAART (2009) Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry 66(6):583-590
37. Kolevzon A, Mathewson KA, Hollander E (2006) Selective serotonin reuptake inhibitors in autism: a review of efficacy and tolerability. J Clin Psychiatry 67(3):407-414
38. Lachiewicz AM, Spiridigliozzi GA, Gullion CM, Ransford SN, Rao K (1994) Aberrant behaviors of young boys with fragile X syndrome. Am J Ment Retard 98(5):567-579
39. Largo RH, Schinzel A (1985) Developmental and behavioural disturbances in 13 boys with fragile X syndrome. Eur J Pediatr 143(4):269-275
40. Li X, Jope RS (2010) Is glycogen synthase kinase-3 a central modulator in mood regulation? Neuropsychopharmacology 35(11):2143-2154
41. Liu ZH, Chuang DM, Smith CB (2010) Lithium ameliorates phenotypic deficits in a mouse model of fragile X syndrome. Int J Neuropsychopharmacol 25:1-13
42. Markham JA, Beckel-Mitchener AC, Estrada CM, Greenough WT (2006) Corticosterone response to acute stress in a mouse model of Fragile X syndrome. Psychoneuroendocrinology 31(6): 781-785
43. Marrosu F, Marrosu G, Rachel MG, Biggio G (1987) Paradoxical reactions elicited by diazepam in children with classic autism. Funct Neurol 2(3):355-361
44. McDougle CJ, Naylor ST, Cohen DJ, Volkmar FR, Heninger GR, Price LH (1996) A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder. Arch Gen Psychiatry 53(11):1001-1008
45. McDougle CJ, Stigler KA, Erickson CA, Posey DJ (2008) Atypical antipsychotics in children and adolescents with autistic and other pervasive developmental disorders. J Clin Psychiatry 69(Suppl 4):15-20
46. Mines MA, Yuskaitis CJ, King MK, Beurel E, Jope RS (2010) GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS One 5(3):e9706
47. Moon J, Beaudin AE, Verosky S, Driscoll LL, Weiskopf M, Levitsky DA, Crnic LS, Strupp BJ (2006) Attentional dysfunction, impulsivity, and resistance to change in a mouse model of fragile X syndrome. Behav Neurosci 120(6):1367-1379
48. Munir F, Cornish KM, Wilding J (2000) A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 38(9):1261-1270
49. Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, De Sarro GB, Elia M (1999) Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia Aug 40(8):1092-1099
50. Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM (2010) Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome. J Neurosci 30(29):9929-9938
51. Pacey LK, Heximer SP, Hampson DR (2009) Increased GABA(B) receptor-mediated signaling reduces the susceptibility of fragile X knockout mice to audiogenic seizures. Mol Pharmacol 76(1):18-24
52. Posey DJ, McDougle CJ (2000) The pharmacotherapy of target symptoms associated with autistic disorder and other pervasive developmental disorders. Harv Rev Psychiatry 8(2):45-63
53. Qin M, Smith CB (2008) Unaltered hormonal response to stress in a mouse model of fragile X syndrome. Psychoneuroendocrinology 33(6):883-889
54. Roberts JE, Symons FJ, Johnson AM, Hatton DD, Boccia ML (2005) Blink rate in boys with fragile X syndrome: preliminary evidence for altered dopamine function. J Intellect Disabil Res 49(Pt9):647-656
55. Rubenstein J, Merzenich M (2003) Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes, Brain, and Behavior 2(5):255-267
56. Sabaratnam M, Vroegop PG, Gangadharan SK (2001) Epilepsy and EEG findings in 18 males with fragile X syndrome. Seizure 10(1):60-63
57. Solomon M, Ozonoff S, Carter C, Caplan R (2008) Formal thought disorder and the autism spectrum: relationship with symptoms, executive control, and anxiety. J Autism Dev Disord 38(8):1474-1484
58. Steinhausen HC, Von Gontard A, Spohr HL, Hauffa BP, Eiholzer U, Backes M, Willms J, Malin Z (2002) Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis. Am J Med Genet 111(4): 381-387
59. Sullivan K, Hatton D, Hammer J, Sideris J, Hooper S, Ornstein P, Bailey D Jr (2006) ADHD symptoms in children with FXS. Am J Med Genet A 140(21):2275-2288
60. 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 (2008) 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 146(7):803-812
61. Torrioli M, Vernacotola S, Setini C, Bevilacqua F, Martinelli D, Snape M, Hutchison JA, Di Raimo FR, Tabolacci E, Neri G (2010) Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. Am J Med Genet A 152A(6):1420-1427
62. Tsiouris JA, Brown WT (2004) Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy. CNS Drugs 18(11):687-703
63. Veenema H, Veenema T, Geraedts JP (1987) The fragile X syndrome in a large family. II. Psychological investigations. J Med Genet 24(1):32-38
64. Ventura R, Pascucci T, Catania MV, Musumeci SA, Puglisi-Allegra S (2004) Object recognition impairment in Fmr1 knockout mice is reversed by amphetamine: involvement of dopamine in the medial prefrontal cortex. Behav Pharmacol 15(5-6):433-442
65. Volk LJ, Pfeiffer BE, Gibson JR, Huber KM (2007) Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation. J Neurosci 27(43):11624-11634
66. Volkow ND, Wang GJ, Newcorn JH, Kollins SH, Wigal TL, Telang F, Fowler JS, Goldstein RZ, Klein N, Logan J, Wong C, Swanson JM (2010) Motivation deficit in ADHD is associated with dysfunction of the dopamine reward pathway. Mol Psychiatry. Sep 21
67. Wahlström J, Gillberg C, Gustavson KH, Holmgren G (1986) Infantile autism and the fragile X. A Swedish multicenter study. Am J Med Genet 23(1-2):403-408
68. Wang H, Wu LJ, Kim SS, Lee FJ, Gong B, Toyoda H, Ren M, Shang YZ, Xu H, Liu F, Zhao MG, Zhuo M (2008) FMRP acts as a key messenger for dopamine modulation in the forebrain. Neuron 59(4):634-647
69. Williams K, Wheeler DM, Silove N, Hazell P (2010) Selective serotonin reuptake inhibitors SSRIs for autism spectrum disorders ASD. Cochrane Database Syst Rev Aug(8), article id CD004677
70. Yan QJ, Asafo-Adjei PK, Arnold HM, Brown RE, Bauchwitz RP (2004) A phenotypic and molecular characterization of the fmr1-tm1Cgr fragile X mouse. Genes Brain Behav 3(6): 337-359
71. Yun SW, Platholi J, Flaherty MS, Fu W, Kottmann AH, Toth M (2006) Fmrp is required for the establishment of the startle response during the critical period of auditory development. Brain Res 1110(1):159-165
72. Zhang YQ, Friedman DB, Wang Z, Woodruff E 3rd, Pan L, O'donnell J, Broadie K (2005) Protein expression profiling of the drosophila fragile X mutant brain reveals up-regulation of monoamine synthesis. Mol Cell Proteomics 4(3):278-290
73. Zupan B, Toth M (2008) Inactivation of the maternal fragile X gene results in sensitization of GABAB receptor function in the offspring. J Pharmacol Exp Ther 327(3):820-826