title: FRAGILE X SYNDROME: PSYCHIATRIC MANIFESTATIONS, ASSESSMENT AND EMERGING THERAPIES.
abstract: Fragile X Syndrome (FXS), the most common inherited cause of intellectual disabilities, is an X-linked dominant disorder caused by the amplification of a CGG repeat in the 5' untranslated region of the fragile X mental retardation gene 1 (FMR1). Prevalence estimates of the disorder are approximately 1/3600. Psychiatric manifestations of the disorder include anxiety, attention deficit hyperactivity disorder, autism, mood instability and aggression. In this article we review the above psychiatric manifestations and challenges to accurate assessment. We also discuss how the neurobiological underpinnings of these symptoms are beginning to be understood and can help guide treatment.
authors: Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California.
authors: Paula M
authors: PM
authors: Wadell
authors: Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Medical Center, Sacramento, California ; Department of Pediatrics, University of California Davis Medical Center, Sacramento, California.
authors: Randi J
authors: RJ
authors: Hagerman
authors: Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California ; Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Medical Center, Sacramento, California.
authors: David R
authors: DR
authors: Hessl
keywords: assessment; fragile X syndrome; neurobiology; psychiatric symptoms; treatment
references: Am J Med Genet A. 2010 Jun;152A(6):1420-7
references: 20503316
references: Ment Retard Dev Disabil Res Rev. 2004;10(1):42-8
references: 14994287
references: Results Probl Cell Differ. 2012;54:297-335
references: 22009360
references: Trends Neurosci. 2004 Jul;27(7):370-7
references: 15219735
references: Am J Med Genet A. 2004 Sep 1;129A(3):225-34
references: 15326621
references: J Med Genet. 2009 Apr;46(4):266-71
references: 19126569
references: Am J Intellect Dev Disabil. 2010 Sep;115(5):433-43
references: 20687826
references: Am J Med Genet A. 2006 Nov 1;140(21):2275-88
references: 17022076
references: J Abnorm Child Psychol. 2007 Feb;35(1):29-42
references: 17165142
references: BMC Neurol. 2010 Oct 11;10:91
references: 20937127
references: Am J Med Genet A. 2008 Aug 15;146A(16):2060-9
references: 18570292
references: Am J Med Genet. 1988 May-Jun;30(1-2):377-92
references: 3052064
references: Results Probl Cell Differ. 2012;54:281-95
references: 22009359
references: J Neurosci. 2011 Apr 13;31(15):5693-8
references: 21490210
references: Am J Ment Retard. 2008 Jan;113(1):44-53
references: 18173299
references: Trends Mol Med. 2010 Nov;16(11):516-27
references: 20864408
references: Psychoneuroendocrinology. 2002 Oct;27(7):855-72
references: 12183220
references: Pediatrics. 2001 Nov;108(5):E88
references: 11694672
references: Clin Genet. 1987 Sep;32(3):179-86
references: 3621665
references: J Neurodev Disord. 2011 Mar;3(1):57-67
references: 21475730
references: Am J Ment Retard. 1995 Nov;100(3):283-92
references: 8554775
references: Am J Ment Retard. 1989 Jan;93(4):406-11
references: 2522786
references: Pediatrics. 1993 Feb;91(2):321-9
references: 8380924
references: Pediatrics. 2009 Jan;123(1):378-90
references: 19117905
references: J Autism Dev Disord. 2010 Dec;40(12):1541-8
references: 20872060
references: Neuron. 2008 Oct 23;60(2):201-14
references: 18957214
references: J Am Acad Child Adolesc Psychiatry. 2010 Sep;49(9):921-33
references: 20732628
references: Genet Med. 2001 Sep-Oct;3(5):359-71
references: 11545690
references: J Med Genet. 2009 Feb;46(2):94-102
references: 18835858
references: J Dev Behav Pediatr. 2008 Aug;29(4):293-302
references: 18698192
references: Am J Ment Retard. 2008 Nov;113(6):427-38
references: 19127654
references: Mol Cell. 2011 Jun 10;42(5):673-88
references: 21658607
references: Eur J Pediatr. 1985 Mar;143(4):269-75
references: 2580709
references: Sci Transl Med. 2011 Jan 5;3(64):64ra1
references: 21209411
references: Am J Med Genet A. 2008 Apr 1;146A(7):803-12
references: 18286595
references: J Child Psychol Psychiatry. 2006 Jun;47(6):602-10
references: 16712637
references: J Autism Dev Disord. 2001 Apr;31(2):165-74
references: 11450815
references: Autism Res Treat. 2012;2012:104317
references: 22934167
references: J Neurosci. 2005 May 18;25(20):5087-95
references: 15901791
references: J Autism Dev Disord. 2009 Jun;39(6):946-52
references: 19399604
references: Arch Gen Psychiatry. 2004 Mar;61(3):281-8
references: 14993116
references: J Dev Behav Pediatr. 2001 Dec;22(6):409-17
references: 11773805
references: Psychopharmacology (Berl). 2011 Jul;216(1):85-90
references: 21318565
references: J Autism Dev Disord. 1988 Sep;18(3):343-54
references: 3170453
references: J Am Acad Child Adolesc Psychiatry. 2003 Aug;42(8):915-22
references: 12874493
references: J Autism Dev Disord. 2003 Dec;33(6):617-29
references: 14714931
references: Am J Med Genet. 1999 Dec 22;87(5):436-9
references: 10594885
references: Am J Med Genet. 2002 Jul 1;110(3):226-33
references: 12116230
references: J Autism Dev Disord. 2008 Jan;38(1):184-9
references: 17340199
references: J Autism Dev Disord. 2006 Oct;36(7):935-47
references: 16897394
references: CNS Drugs. 2004;18(11):687-703
references: 15330685
references: Clin Genet. 1984 Feb;25(2):131-4
references: 6705249
references: J Autism Dev Disord. 2012 Jul;42(7):1377-92
references: 21972117