The online version of this article (doi:10.1186/1866-1955-6-38) contains supplementary material, which is available to authorized users.
Kathryn Louise McCabe, Rebbekah Josephine Atkinson contributed equally to this work.
The authors declare that they have no competing interests.
KLM, RJA and LEC planned the analyses. KLM, RJA, LEC, JLM, JH, GC and RT developed measures, collected and processed the data and conducted the main analysis. GC was involved in the development and application of computer programs used for the analyses. KLM wrote the first draft of the paper. US, CML and LEC participated in planning the main study and obtaining funding. All authors contributed to the interpretation of the data and to the writing of the paper. All authors have approved the final version of the paper.
22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of children with 22q11DS will develop schizophrenia and other psychotic disorders later in life. Evidence of genetic transmission of information processing deficits in schizophrenia suggests performance in 22q11DS individuals will enhance understanding of the neurobiological and genetic substrates associated with information processing. In this report, we examine information processing in 22q11DS using measures of startle eyeblink modification and antisaccade inhibition to explore similarities with schizophrenia and associations with neurocognitive performance.
Startle modification (passive and active tasks; 120- and 480-ms pre-pulse intervals) and antisaccade inhibition were measured in 25 individuals with genetically confirmed 22q11DS and 30 healthy control subjects.
Individuals with 22q11DS exhibited increased antisaccade error as well as some evidence (trend-level effect) of impaired sensorimotor gating during the active condition, suggesting a dysfunction in controlled attentional processing, rather than a pre-attentive dysfunction using this paradigm.
The findings from the present study show similarities with previous studies in clinical populations associated with 22q11DS such as schizophrenia that may indicate shared dysfunction of inhibition pathways in these groups.
Authors’ original file for figure 111689_2013_89_MOESM1_ESM.tif
Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, Swaab H, Kahn RS, van Engeland H: The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry. 2006, 45: 1104-1113. 10.1097/01.chi.0000228131.56956.c1. CrossRefPubMed
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, ClaytonSmith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, BrondumNielsen K, Stewart F, VanEssen T, Patton M, Paterson J, Scambler PJ: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997, 34: 798-804. 10.1136/jmg.34.10.798. PubMedCentralCrossRefPubMed
Cadenhead KS, Swerdlow NR, Shafer KM, Diaz M, Braff DL: Modulation of the startle response and startle laterality in relatives of schizophrenic patients and in subjects with schizotypal personality disorder: evidence of inhibitory deficits. Am J Psychiatry. 2000, 157: 1660-1668. 10.1176/appi.ajp.157.10.1660. CrossRefPubMed
Cadenhead KS, Swerdlow NR, Braff DL: Relative risk of prepulse inhibition deficits in schizophrenia patients and their siblings. Biol Psychiat. 2001, 49: 126s-126s.
Radant AD, Dobie DJ, Calkins ME, Olincy A, Braff DL, Cadenhead KS, Freedman R, Green MF, Greenwood TA, Gur RE, Light GA, Meichle SP, Mintz J, Nuechterlein KH, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang MT, Turetsky BI, Tsuang DW: Successful multi-site measurement of antisaccade performance deficits in schizophrenia. Schizophr Res. 2007, 89: 320-329. 10.1016/j.schres.2006.08.010. CrossRefPubMed
Shapiro HM, Wong LM, Simon TJ: A cross-sectional analysis of the development of response inhibition in children with chromosome 22q11.2 deletion syndrome. Front Psychiatr. 2013, 4: 81- CrossRef
Campbell L, Azuma R, Ambery F, Stevens A, Smith A, Morris R, Murphy D, Murphy K: Executive functions and memory abilities in children with 22q11.2 deletion syndrome. Aust New Zeal J Psychiatr. 2010, 44: 364-371. 10.3109/00048670903489882. CrossRef
Myles-Worsley M, Coon H, McDowell J, Brenner C, Hoff M, Lind P, Bennett P, Freedman R, Clementz B, Byerley W: Linkage of a composite inhibitory phenotype to a chromosome 22q locus in eight Utah families. Am J Med Genet. 1999, 88: 544-550. 10.1002/(SICI)1096-8628(19991015)88:5<544::AID-AJMG20>3.0.CO;2-V. CrossRefPubMed
Birmaher B, Ehmann M, Axelson DA, Goldstein BI, Monk K, Kalas C, Kupfer D, Gill MK, Leibenluft E, Bridge J, Guyer A, Egger HL, Brent DA: Schedule for affective disorders and schizophrenia for school-age children (K-SADS-PL) for the assessment of preschool children–a preliminary psychometric study. J Psychiatr Res. 2009, 43: 680-686. 10.1016/j.jpsychires.2008.10.003. PubMedCentralCrossRefPubMed
Wechsler D: Wechsler Abbreviated Scale of Intelligence (WASI). 1999, San Antonio, TX: Psychological Corporation
Campbell LE, Hughes M, Budd TW, Cooper G, Fulham WR, Karayanidis F, Hanlon MC, Stojanov W, Johnston P, Case V, Schall U: Primary and secondary neural networks of auditory prepulse inhibition: a functional magnetic resonance imaging study of sensorimotor gating of the human acoustic startle response. Eur J Neurosci. 2007, 26: 2327-2333. 10.1111/j.1460-9568.2007.05858.x. CrossRefPubMed
Kumari V, Ettinger U, Crawford TJ, Zachariah E, Sharma T: Lack of association between prepulse inhibition and antisaccadic deficits in chronic schizophrenia: implications for identification of schizophrenia endophenotypes. J Psychiatr Res. 2005, 39: 227-240. 10.1016/j.jpsychires.2004.08.007. CrossRefPubMed
- Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS)
Kathryn Louise McCabe
Rebbekah Josephine Atkinson
Jessica Lauren Melville
Carmel Maree Loughland
Linda Elisabet Campbell
- BioMed Central
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