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Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs

  • Psychiatry and Preclinical Psychiatric Studies - Original Article
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Abstract

The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in specific cognitive domains, such as executive functioning and attention, have also been described. The aim of this study was to investigate attentional functioning in a group of subjects with DG using ERPs, and in particular the P300 and CNV components. We studied ten patients with DG and ten healthy subjects that performed a P300 Novelty task and a CNV motor task. P3b amplitude was significantly lower in patients than in controls, while P3b latency was comparable in patients and controls. The P3a parameters were similar in both groups. All CNV amplitudes were significantly lower in DG patients than in controls. DG patients displayed slower reaction times in the CNV motor task than healthy subjects. These results point to a cognitive dysfunction related above all to executive attentional processing in DG patients. In particular, a specific difficulty emerged in selective attention and in the ability to orient and to sustain the anticipatory attention required for an executive motor response.

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References

  • Antshel KM, AbdulSabur N, Roizen N, Fremont W, Kates WR (2005) Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS). Dev Neuropsychol 28(3):849–869

    Article  PubMed  Google Scholar 

  • Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR (2007) Temperament in velocardiofacial syndrome. J Intellect Disabil Res 51:218–227

    Article  PubMed  CAS  Google Scholar 

  • Barnea-Goraly N, Menon V, Krasnow B, Ko A, Reiss A, Eliez S (2003) Investigation of white matter structure in velo-cardio-facial syndrome: a diffusion tensor imaging study. Am J Psychiatry 160:1863–1869

    Article  PubMed  Google Scholar 

  • Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion Syndrome Consortium (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159:332–339

    Article  PubMed  PubMed Central  Google Scholar 

  • Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emannuel B, Cannon TD (2001) The neurocognitive phenotype of the 22q11 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol 23:447–464

    Article  PubMed  CAS  Google Scholar 

  • Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, Cannon TD (2004) Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase 10:198–206

    Article  PubMed  Google Scholar 

  • Bish JP, Ferrante SM, McDonald-McGinn D, Zackai E, Simon TJ (2005) Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Dev Sci 8:36–43

    Article  PubMed  Google Scholar 

  • Bish JP, Chiodo R, Mattei V, Simon TJ (2007) Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome. Brain Cogn 64:265–273

    Article  PubMed  PubMed Central  Google Scholar 

  • Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC (2006) Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain 129:1218–1228

    Article  PubMed  Google Scholar 

  • Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S, Kolachana BS, Hyde TM, Herman MM, Apud J, Egan MF, Kleinman JE, Weinberger DR (2004) Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet 75:807–821

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Cui RQ, Egkher A, Huter D, Lang W, Lindinger G, Deecke L (2000) High resolution spatiotemporal analysis of the contingent negative variation in simple or complex motor tasks and a non-motor task. Clin Neurophysiol 111(10):1847–1859

    Article  PubMed  CAS  Google Scholar 

  • Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K (1998) The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35:789–790

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC et al (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet Part A 44(2):261–268

    Article  CAS  Google Scholar 

  • Duncan CC, Barry RJ, Connolly JF, Fischer C, Michie PT, Näätänen R, Polich J, Reinvang I, Van Petten C (2009) Event-related potentials in clinical research: guidelines for eliciting, recording, and quantifying mismatch negativity, P300, and N400. Clin Neurophysiol 120:1883–1908

    Article  PubMed  Google Scholar 

  • Eliez S, Schmitt JE, White CD, Wellis VG, Reiss AL (2001) A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiatry 49:540–546

    Article  PubMed  CAS  Google Scholar 

  • Eliez S, Barnea-Goraly N, Schmitt JE, Liu Y, Reiss AL (2002) Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). Biol Psychiatry 52:68–70

    Article  PubMed  Google Scholar 

  • Friedman D, Cycowicz YM, Gaeta H (2001) The novelty P3: an event-related brain potential (ERP) sign of the brain evaluation of novelty. Neurosci Biobehav Rev 25(4):355–373

    Article  PubMed  CAS  Google Scholar 

  • Furniss F, Biswas AB, Gumber R, Singh N (2011) Cognitive phenotype of velocardiofacial syndrome: a review. Res Dev Disabil 32:2206–2213

    Article  PubMed  Google Scholar 

  • Gaillard AW (1976) Effects of warning-signal modality on the contingent negative variation (CNV). Biol Psychol 4(2):139–154

    Article  PubMed  CAS  Google Scholar 

  • Gómez CM, Flores A (2011) A neurophysiological evaluation of a cognitive cycle in humans. Neurosci Biobehav Rev 35(3):452–461

    Article  PubMed  Google Scholar 

  • Halgren E, Marinkovic K, Chauvel P (1998) Generators of the late cognitive potentials in auditory and visual oddball tasks. Electroencephalogr Clin Neurophysiol 106:156–164

    Article  PubMed  CAS  Google Scholar 

  • Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD (2004) Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol 19:337–342

    Article  PubMed  Google Scholar 

  • Kates WR, Antshel K, Willhite R, Bessette BA, AbdulSabur N, Higgins AM (2005) Gender-moderated dorsolateral prefrontal reductions in 22q11.2 deletion syndrome: implications for risk for schizophrenia. Child Neuropsychol 11(1):73–85

    Article  PubMed  Google Scholar 

  • Kim H (2014) Involvement of the dorsal and ventral attention networks in oddball stimulus processing: a meta-analysis. Hum Brain Mapp 35:2265–2284

    Article  PubMed  Google Scholar 

  • Kimble M, Kaloupek D, Kaufman M, Deldin P (2000) Stimulus novelty differentially affects attentional allocation in PTSD. Biol Psychiatry 47:880–890

    Article  PubMed  CAS  Google Scholar 

  • Knight RT, Scabini D (1998) Anatomic bases of event-related potentials and their relationship to novelty detection in humans. J Clin Neurophysiol 15(1):3–13

    Article  PubMed  CAS  Google Scholar 

  • Knight RT, Scabini D, Woods DL, Clayworth CC (1989) Contributions of temporal–parietal junction to the human auditory P3. Brain Res 502:109–116

    Article  PubMed  CAS  Google Scholar 

  • Lewandowski KE, Shashi V, Berry PM, Kwapil TR (2007) Schizophrenic like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 144B:27–36

    Article  PubMed  Google Scholar 

  • Luck SJ (2005) An introduction to the event-related potential technique. MIT Press, Cambridge

    Google Scholar 

  • Luck SJ, Gold JM (2008) The construct of attention in schizophrenia. Biol Psychiatry 64(1):34–39

    Article  PubMed  PubMed Central  Google Scholar 

  • Mannarelli D, Pauletti C, De Lucia MC, Delle Chiaie R, Bersani FS, Spagnoli F, Minichino A, Currà A, Trompetto C, Fattapposta F (2016) Effects of cerebellar transcranial direct current stimulation on attentional processing of the stimulus: evidence from an event-related potentials study. Neuropsychologia 84:127–135

    Article  PubMed  Google Scholar 

  • Mulert C, Jäger L, Schmitt R, Bussfeld P, Pogarell O, Möller HJ, Juckel G, Hegerl U (2004) Integration of fMRI and simultaneous EEG: towards a comprehensive understanding of localization and time-course of brain activity in target detection. Neuroimage 22:83–94

    Article  PubMed  Google Scholar 

  • Murphy KC (2002) Schizophrenia and velo-cardio-facial syndrome. Lancet 359:426–430

    Article  PubMed  Google Scholar 

  • Murphy KC, Owen MJ (2001) Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry 179:397–402

    Article  PubMed  CAS  Google Scholar 

  • Pauletti C, Mannarelli D, Grippo A, Currà A, Locuratolo N, De Lucia MC, Fattapposta F (2014) Phasic alertness in a cued double-choice reaction time task: a Contingent Negative Variation (CNV) study. Neurosci Lett 3(581):7–13

    Article  CAS  Google Scholar 

  • Petersen SE, Posner MI (2012) The attention system of the human brain: 20 years after. Annu Rev Neurosci 35:73–89

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Polich J (2007) Updating P300: an integrative theory of P3a and P3b. Clin Neurophysiol 118(10):2128–2148

    Article  PubMed  PubMed Central  Google Scholar 

  • Polich J, Kok A (1995) Cognitive and biological determinants of P300: an integrative review. Biol Psychol 41:103–146

    Article  PubMed  CAS  Google Scholar 

  • Rihs TA, Tomescu MI, Britz J, Rochas V, Custo A, Schneider M, Debbané M, Eliez S, Michel CM (2013) Altered auditory processing in frontal and left temporal cortex in 22q11.2 deletion syndrome: a group at high genetic risk for schizophrenia. Psychiatry Res 212:141–149

    Article  PubMed  CAS  Google Scholar 

  • Shashi V, Kwapil TR, Kaczorowski J, Berry MN, Santos CS, Howard TD, Goradia D, Prasad K, Vaibhav D, Rajarethinam R, Spence E, Keshavan MS (2010) Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome. Psychiatry Res 181:1–8

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Simon TJ, Bish JP, Bearden CE, Ding L, Ferrante S, Nguyen V, Gee JC, McDonald-McGinn DM, Zackai EH, Emanuel BS (2005a) A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev Psychopathol 17:753–784

    Article  PubMed  PubMed Central  Google Scholar 

  • Simon TJ, Ding L, Bish JP, McDonald-McGinn DM, Zackai EH, Gee J (2005b) Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage 25:169–180

    Article  PubMed  Google Scholar 

  • Smith ME, Halgren E, Sokolik M, Baudena P, Musolino A, Liegeois-Chauvel C, Chauvel P (1990) The intracranial topography of the P3 event-related potential elicited during auditory oddball. Electroencephogr Clin Neurophysiol 76:235–248

    Article  CAS  Google Scholar 

  • Sobin C, Kiley-Brabeck K, Daniels S, Blundell M, Anyane-Yeboa K, Karayiorgou M (2004) Networks of attention in children with the 22q11 deletion syndrome. Dev Neuropsychol 26:611–626

    Article  PubMed  PubMed Central  Google Scholar 

  • Sobin C, Kiley-Brabeck K, Karayiorgou M (2005) Lower prepulse inhibition in children with the 22q11 deletion syndrome. Am J Psychiatry 162:1090–1099

    Article  PubMed  PubMed Central  Google Scholar 

  • Sugama S, Bingham PM, Wang PP, Moss EM, Kobayashi H, Eto Y (2000) Morphometry of the head of the caudate nucleus in patients with velocardiofacial syndrome (del 22q11.2). Acta Paediatr 89:546–549

    Article  PubMed  CAS  Google Scholar 

  • Swillen A, McDonald-McGinn D (2015) Developmental trajectories in 22q11.2 deletion. Am J Med Genet C Semin Med Genet 169:172–181

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Swillen A, Vogels A, Devriendt K, Fryns JP (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive behavioral spectrum, and psychiatric complications. Am J Med Genet 97:128–135

    Article  PubMed  CAS  Google Scholar 

  • Tecce JJ (1972) Contingent negative variation (CNV) and psychological processes in man. Psychol Bull 77(2):73–108

    Article  PubMed  CAS  Google Scholar 

  • Travis F, Tecce JJ (1998) Effects of distracting stimuli on CNV amplitude and reaction time. Int J Psychophysiol 31(1):45–50

    Article  PubMed  CAS  Google Scholar 

  • Verleger R (1997) On the utility of P3 latency as an index of mental chronometry. Psychophysiology 34(2):131–156

    Article  PubMed  CAS  Google Scholar 

  • Walter WG, Cooper R, Aldridge VJ, McCallum WC, Winter AL (1964) Contingent negative variation: an electric sign of sensorimotor association and expectancy in the human brain. Nature 203:380–384

    Article  PubMed  CAS  Google Scholar 

  • Wang C, Ulbert I, Schomer DL, Marinkovic K, Halgren E (2005) Responses of human anterior cingulate cortex microdomains to error detection, conflict monitoring, stimulus-response mapping, familiarity, and orienting. J Neurosci 25(3):604–613

    Article  PubMed  CAS  Google Scholar 

  • Woodman GF, Luck SJ (2003) Serial deployment of attention during visual search. J Exp Psychol Hum Percept Perform 29:121–138

    Article  PubMed  Google Scholar 

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Acknowledgements

The authors especially thank Lewis Baker for the English language editing.

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Correspondence to Daniela Mannarelli.

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Mannarelli, D., Pauletti, C., Accinni, T. et al. Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs. J Neural Transm 125, 1043–1052 (2018). https://doi.org/10.1007/s00702-018-1873-5

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  • DOI: https://doi.org/10.1007/s00702-018-1873-5

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