Neural substrates of inhibitory control deficits in 22q11.2 deletion syndrome

Cerebral Cortex

Volumn 25, Issue 4, 2015, Pages 1069-1079

  Montojo, C A ^a,b   Jalbrzikowski, M ^b   Congdon, E ^a   Domicoli, S ^b   Chow, C ^a   Dawson, C ^d   Karlsgodt, K H ^c   Bilder, R M ^a,b   Bearden, C E ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^d FIELDING GRADUATE UNIVERSITY   (United States)

Author keywords

fronto basal ganglia; impulsivity; response inhibition; velocardiofacial syndrome

Indexed keywords

ADULT; ANTERIOR CINGULATE; ARTICLE; BARRATT IMPULSIVENESS SCALE; BASAL GANGLION; BRAIN REGION; CAUDATE NUCLEUS; CEREBELLUM; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONTROLLED STUDY; EDUCATIONAL STATUS; ELECTROENCEPHALOGRAM; FEMALE; FOLLOW UP; FRONTAL CORTEX; FUNCTIONAL MAGNETIC RESONANCE IMAGING; FUNCTIONAL NEUROIMAGING; HUMAN; IMPULSIVENESS; INFERIOR FRONTAL GYRUS; INHIBITION (PSYCHOLOGY); INSULA; INTELLIGENCE QUOTIENT; MALE; MIDDLE FRONTAL GYRUS; MIDDLE TEMPORAL GYRUS; NEUROPSYCHOLOGICAL TEST; OCCIPITAL CORTEX; PRIMARY MOTOR CORTEX; PRIORITY JOURNAL; PUTAMEN; RESPONSE INHIBITION; RESPONSE TIME; STOP SIGNAL TASK; SUPERIOR FRONTAL GYRUS; TASK PERFORMANCE; THALAMUS; WECHSLER INTELLIGENCE SCALE; ADOLESCENT; BRAIN; DIGEORGE SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHYSIOLOGY; PSYCHOLOGICAL RATING SCALE; PSYCHOMOTOR PERFORMANCE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; DIGEORGE SYNDROME; FEMALE; HUMANS; INHIBITION (PSYCHOLOGY); MAGNETIC RESONANCE IMAGING; MALE; NEUROPSYCHOLOGICAL TESTS; PSYCHIATRIC STATUS RATING SCALES; PSYCHOMOTOR PERFORMANCE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84926618914     PISSN: 10473211     EISSN: 14602199     Source Type: Journal    
DOI: 10.1093/cercor/bht304     Document Type: Article

References (68)

1. Alexander GE, Crutcher MD. (1990). Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends Neurosci. 13(7): 266-271
2. Antshel KM, Fremont W, Kates WR. (2008). The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. Dev Disabil Res Rev. 14: 43-51
3. Antshel KM, Stephen VF, Fremont W, Monuteaux MC, Kates WR, Doyle A, Mick E, Biederman J. (2007). Comparing ADHD in velocardiofacial syndrome to idiopathic ADHD: a preliminary study. J Atten Disord. 11(1): 64-73
4. Aron AR, Poldrack RA. (2005). The cognitive neuroscience of response inhibition: relevance for genetic research in attention-deficit/hyperactivity disorder. Biol Psychiatry. 57(11): 1285-1292
5. Aron AR, Poldrack RA. (2006). Cortical and subcortical contributions to Stop signal response inhibition: role of the subthalamic nucleus. J Neurosci. 26(9): 2424-2433
6. Aron AR, Durston S, Eagle DM, Logan GD, Stinear CM, Stuphorn V. (2007). Converging evidence for a fronto-basal-ganglia network for inhibitory control of action and cognition. J Neurosci. 27 (44): 11860-11864
7. Baker K, Vorstman JA. (2012). Is there a core neuropsychiatric phenotype in 22q11. 2 deletion syndrome? Curr Opin Neurol. 25 (2): 131-137
8. Band GP, van der Molen MW, Logan GD. (2003). Horse-race model simulations of the stop signal procedure. Acta Psychol (Amst). 112 (2): 105-142
9. Bari A, Robbins TW. (2013). Inhibition and impulsivity: behavioral basis of response control. Prog Neurobiol. 108: 44-79
10. Bearden CE, Woodin MF, Wang PP, Mos E, McDonald-McGinn D, Zackai E, Cannon TD. (2001). The neurocognitive phenotype of the 22q11. 2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol. 23(4): 447-464
11. Brainard DH. (1997). The Psychophysics Toolbox. Spatial Vision. 10: 437-442
12. Braver TS, Barch DM, Gray JR, Molfese DL, Snyder A. (2001). Anterior cingulate cortex and response conflict: effects of frequency, inhibition and errors. Cereb Cortex. 11: 825-836
13. Brydges CR, Anderson M, Reid CL, Fox AM. (2013). Maturation of cognitive control: delineating response inhibition and interference suppression. PLoS One. 8(7): e69826
14. Cole DM, Oei NY, Soeter RP, Both S, van Gerven JM, Rombouts SA, Beckmann CF. (2012). Dopamine-dependent architecture of corticosubcortical network connectivity. Cereb Cortex. 23(7): 1509-1516
15. Congdon E, Mumford JA, Cohen JR, Galvan A, Aron AR, Xue G, Miller E, Poldrack RA. (2010). Engagement of large-scale networks is related to individual differences in inhibitory control. Neuroimage. 53(2): 653-663
16. Congdon E, Mumford JA, Cohen JR, Galvan A, Canli T, Poldrack RA. (2012). Measurement and reliability of response inhibition. Front Psychol. 3(37): 1-10
17. Cools R, Sheridan M, Jacobs E, D'Esposito M. (2007). Impulsive personality predicts dopamine-dependent changes in frontostriatal activity during component processes of working memory. J Neurosci. 27 (20): 5506-5514
18. Crunelle CL, Veltman DJ, van Emmerik-van Oortmerssen K, Booij J, van den Brink W. (2013). Impulsivity in adult ADHD patients with and without cocaine dependence. Drug Alcohol Depend. 129: 18-24
19. Cubillo A, Halari R, Smith A, Taylor E, Rubia K. (2012). A review of fronto-striatal and fronto-cortical brain abnormalities in children and adults with Attention Deficit Hyperactivity Disorder (ADHD) and new evidence for dysfunction in adults with ADHD during motivation and attention. Cortex. 48(2): 194-215
20. Dickstein SG, Bannon K, Castellanos FX, Milham MP. (2006). The neural correlates of attention deficit hyperactivity disorder: an ALE meta-Analysis. J Child Psychol Psychiatry. 47(10): 1051-1062
21. Durston S, Davidson MC, Thomas KM, Worden MS, Tottenham N, Martinez A, Watts R, Ulug AM, Casey BJ. (2003). Parametric manipulation of conflict and response competition using rapid mixed-Trial event-related fMRI. Neuroimage. 20(4): 2135-2141
22. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR. (2001). Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci. 98(12): 6917-6922
23. Enticott PG, Ogloff JRP, Bradshaw JL. (2006). Associations between laboratory measures of executive inhibitory control and self-reported impulsivity. Pers Indiv Differ. 41(2): 285-294
24. Epstein JN, Casey BJ, Tonev ST, Davidson MC, Reiss AL, Garrett A, Hinshaw SP, Greenhill LL, Glover G, Shafritz KM, et al. (2007). ADHD-And medication-related brain activation effects in concordantly affected parent-child dyads with ADHD. J Child Psychol Psychiatry. 48(9): 899-913
25. Fallgatter AJ, Lesch KP. (2007). 22q11. 2 deletion syndrome as a natural model for COMT haploinsufficiency-related dopaminergic dysfunction in ADHD. Int J Neuropsychopharmacol. 10(3): 295
26. First MB, Spitzer RL, Williams JBW. (1997). Structured Clinical Interview for DSM-IV Axis I Disorders. American Psychiatric Publishing, Incorporated
27. Furniss F, Biswas AB, Gumber R, Singh N. (2011). Cognitive phenotype of velocardiofacial syndrome: a review. Res Dev Disabil. 32: 2206-2213
28. Garavan HH, Ross TJT, Stein EAE. (1999). Right hemispheric dominance of inhibitory control: an event-related functional MRI study. Proc Natl Acad Sci. 96: 8301-8306
29. Gothelf D, Hoeft F, Hinard C, Hallmayer JF, Van Dover Stoecker J, Antonarakis SE, Morris MA, Reiss AL. (2007). Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum Brain Mapp. 28(6): 533-542
30. Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, Weizman A, Eliez S. (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11. 2deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 48 (11): 1060-1068
31. Guyot L, Dubuc M, Pujol J, Dutour O, Philip N. (2001). Craniofacial anthropometric analysis in patients with 22q11 microdeletion. Am J Med Genet. 100(1): 1-8
32. Hart H, Radua J, Nakao T, Mataix-Cols D, Rubia K. (2013). Meta-Analysis of functional magnetic resonance imaging studies of inhibition and attention in attention-deficit/hyperactivity disorder: exploring taskspecific, stimulant medication, and age effects. JAMA Psychiatry. 70 (2): 185-198
33. Haxby JV, Grady CL, Horwitz B, Ungerleider LG, Mishkin M, Carson RE, Herscovitch P, Schapiro MB, Rapoport SI. (1991). Dissociation of object and spatial visual processing pathways in human extrastriate cortex. Proc Natl Acad Sci USA. 88(5): 1621-1625
34. Henry JC, Van Amelsvoort T, Morris RG, Owen MJ, Murphy DGM, Murphy KC. (2002). An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia. 40(5): 471-478
35. Hoeft F, Hernandez A, Parthasarathy S, Watson CL, Hall SS, Reiss AL. (2007). Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome. Hum Brain Mapp. 28(6): 543-554
36. Lachman HM, Morrow B, Shprintzen R, Veit S, Parsia SS, Faedda G, Goldberg R, Kucherlapati R, Papolos DF. (1996). Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet. 67(5): 468-472
37. Liddle PF, Kiehl KA, Smith AM. (2001). Event-related fMRI study of response inhibition. Hum Brain Mapp. 12(2): 100-109
38. Logan GD, Schachar RJ, Tannock R. (1997). Impulsivity and Inhibitory Control. Psychol Sci. 8: 60-64
39. Lubke GH, Hudziak JJ, Derks EM, van Bijsterveldt TC, Boomsma DI. (2009). Maternal ratings of attention problems in ADHD: evidence for the existence of a continuum. J Am Acad Child Adolesc Psychiatry. 48(11): 1085-1093
40. Ma J, Lei D, Jin X, Du X, Jiang F, Li F, Zhang Y, Shen X. (2012). Compensatory brain activation in children with attention deficit/hyperactivity disorder during a simplified Go/No-Go task. J Neural Transm. 119(5): 613-619
41. Malach R, Reppas JB, Benson RR, Kwong KK, Jiang H, Kennedy WA, Ledden PJ, Brady TJ, Rosen BR, Tootell RB. (1995). Object-related activity revealed by functional magnetic resonance imaging in human occipital cortex. Proc Natl Acad Sci USA. 92(18): 8135-8139
42. Malloy-Diniz L, Fuentes D, Leite WB, Correa H, Bechara A. (2007). Impulsive behavior in adults with attention deficit/hyperactivity disorder: characterization of attentional, motor and cognitive impulsiveness. J Int Neuropsychol Soc. 13(04): 693-698
43. Mink JW. (1996). The basal ganglia: focused selection and inhibition of competing motor programs. Prog Neurobiol. 50: 381-425
44. Mobbs D, Eckert MA, Mills D, Korenberg J, Bellugi U, Galaburda AM, Reiss AL. (2007). Frontostriatal dysfunction during response inhibition inWilliams syndrome. Biol Psychiatry. 62(3): 256-261
45. Moeller FG, Barratt ES, Dougherty DM, Schmitz JM, Swann AC. (2001). Psychiatric aspects of impulsivity. Am J Psychiatry. 158(11): 1783-1793
46. Mostofsk SH, Schafer JGB, Abrams MT, Goldberg MC, Flower AA, Boyce A, Courtney SM, Calhoun VD, Kraut MA, Denckla MB, et al. (2003). fMRI evidence that the neural basis of response inhibition is task-dependent. Cogn Brain Res. 17(2): 419-430
47. Mumford JA, Poldrack RA. (2007). Modeling group fMRI data. Soc Cogn Affect Neurosci. 2: 251-257
48. Nambu A, Tokuno H, Takada M. (2002). Functional significance of the cortico-subthalamo-pallidal hyperdirect pathway. Neurosci Res. 43: 111-117
49. Niklasson LL, Rasmussen PP, Oskarsdóttir SS, Gillberg CC. (2001). Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med. 3: 79-84
50. Patton JH, Stanford MS, Barratt ES. (1995). Factor structure of the Barratt Impulsiveness Scale. J Clin Psychol. 51: 768-774
51. Reise SP, Moore TM, Sabb FW, Brown AK, London ED. (2013). The Barratt Impulsiveness Scale-11: reassessment of Its Structure in a Community Sample. Psychol Assess. 25(2): 631-642
52. Ridderinkhof KR, Ullsperger M, Crone EA, Nieuwenhuis S. (2004). The role of the medial frontal cortex in cognitive control. Sci Signal. 306 (5695): 443
53. Rubia K, Smith AB, Brammer MJ, Taylor E. (2003). Right inferior prefrontal cortex mediates response inhibition while mesial prefrontal cortex is responsible for error detection. Neuroimage. 20: 351-358
54. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, et al. (1997). Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Am J Med Genet. 34(10): 798-804
55. Scambler PJ. (2000). The 22q11 deletion syndromes. Hum Mol Gen. 9 (16): 2421-2426
56. Schulz KP, Fan J, Tang CY, Newcorn JH, Buchsbaum MS, Cheung AM, Halperin JM. (2004). Response inhibition in adolescents diagnosed with attention deficit hyperactivity disorder during childhood: an event-related FMRI study. Am J Psychiatry. 161(9): 1650-1657
57. Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR. (2006). Cognitive correlates of a functional COMT polymorphism in children with 22q11. 2 deletion syndrome. Clin Genet. 69(3): 234-238
58. Shaw P, Gilliam M, Liverpool M, Weddle C, Malek M, Sharp W, Greenstein D, Evans A, Rapoport J, Giedd J. (2011). Cortical development in typically developing children with symptoms of hyperactivity and impulsivity: support for a dimensional view of attention deficit hyperactivity disorder. Am J Psychiatry. 168(2): 143
59. Shprintzen RJ, Goldberg RB, Levin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D. (1978). A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 15: 56-62
60. Smith SM, Jenkinson M, Woolrich MW, Beckmann CF, Behrens TE, Johansen-Berg H, Bannister PR, De Luca M, Drobnjak I, Flitney DE, et al. (2004). Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage. 23: S208-S219
61. Soeiro-De-Souza MGM, Stanford MSM, Bio DSD, Machado-Vieira RR, Moreno RAR. (2013). Association of the COMT Met158 allele with trait impulsivity in healthy young adults. Mol Med Report. 7: 1067-1072
62. Swann AC, Dougherty DM, Pazzaglia PJ, Pham M, Steinberg JL, Moeller FG. (2005). Increased impulsivity associated with severity of suicide attempt history in patients with bipolar disorder. Am J Psychiatry. 162(9): 1680-1687
63. Swick D, Ashley V, Turken U. (2011). Are the neural correlates of stopping and not going identical? Quantitative meta-Analysis of two response inhibition tasks. Neuroimage. 56(3): 1655-1665
64. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. (1997). Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. Am J Med Genet. 34(6): 453-458
65. Tamm L, Menon V, Ringel J, Reiss AL. (2004). Event-related FMRI evidence of frontotemporal involvement in aberrant response inhibition and task switching in attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 43(11): 1430-1440
66. Thakkar KN, Congdon E, Poldrack RA, Sabb FW, London ED, Cannon TD, Bilder RM. (2013). Women are more sensitive than men to prior trial events on the Stop-signal task. Br J Psychol. doi: 10.1111/bjop.12034
67. Wechsler D. (1999). WASI manual. San Antonio: Psychological Corporation.
68. Wechsler. (2008). Wechsler Adult Intelligence Scale (WAIS-IV) Pearson Assessment. San Antonio: Pearson