Top

Published in:

Open Access 01-12-2023 | Electroencephalography | Study Protocol

Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes

Authors: David A. Parker, Joseph F. Cubells, Sid L. Imes, Gabrielle A. Ruban, Brett T. Henshey, Nicholas M. Massa, Elaine F. Walker, Erica J. Duncan, Opal Y. Ousley

Published in: BMC Psychiatry | Issue 1/2023

Abstract

Background

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal interstitial-deletion disorder, occurring in approximately 1 in 2000 to 6000 live births. Affected individuals exhibit variable clinical phenotypes that can include velopharyngeal anomalies, heart defects, T-cell-related immune deficits, dysmorphic facial features, neurodevelopmental disorders, including autism, early cognitive decline, schizophrenia, and other psychiatric disorders. Developing comprehensive treatments for 22q11.2DS requires an understanding of both the psychophysiological and neural mechanisms driving clinical outcomes. Our project probes the core psychophysiological abnormalities of 22q11.2DS in parallel with molecular studies of stem cell-derived neurons to unravel the basic mechanisms and pathophysiology of 22q11.2-related psychiatric disorders, with a primary focus on psychotic disorders. Our study is guided by the central hypothesis that abnormal neural processing associates with psychophysiological processing and underlies clinical diagnosis and symptomatology. Here, we present the scientific background and justification for our study, sharing details of our study design and human data collection protocol.

Methods

Our study is recruiting individuals with 22q11.2DS and healthy comparison subjects between the ages of 16 and 60 years. We are employing an extensive psychophysiological assessment battery (e.g., EEG, evoked potential measures, and acoustic startle) to assess fundamental sensory detection, attention, and reactivity. To complement these unbiased measures of cognitive processing, we will develop stem-cell derived neurons and examine neuronal phenotypes relevant to neurotransmission. Clinical characterization of our 22q11.2DS and control participants relies on diagnostic and research domain criteria assessments, including standard Axis-I diagnostic and neurocognitive measures, following from the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) and the North American Prodrome Longitudinal Study (NAPLS) batteries. We are also collecting measures of autism spectrum (ASD) and attention deficit/hyperactivity disorder (ADHD)-related symptoms.

Discussion

Studying 22q11.2DS in adolescence and adulthood via deep phenotyping across multiple clinical and biological domains may significantly increase our knowledge of its core disease processes. Our manuscript describes our ongoing study’s protocol in detail. These paradigms could be adapted by clinical researchers studying 22q11.2DS, other CNV/single gene disorders, or idiopathic psychiatric syndromes, as well as by basic researchers who plan to incorporate biobehavioral outcome measures into their studies of 22q11.2DS.

Blagojevic C, Heung T, Theriault M, Tomita-Mitchell A, Chakraborty P, Kernohan K, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ Open. 2021;9:E802-9. https://doi.org/10.9778/cmajo.20200294.CrossRefPubMedPubMedCentral

Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 Deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101–7. https://doi.org/10.1542/peds.112.1.101.CrossRefPubMed

Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018;5:573–80. https://doi.org/10.1016/S2215-0366(18)30168-8.CrossRefPubMedPubMedCentral

Emanuel BS, Shaikh TH. Segmental duplications: an “expanding” role in genomic instability and disease. Nat Rev Genet. 2001;2:791–800. https://doi.org/10.1038/35093500.CrossRefPubMed

Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64:1076–86. https://doi.org/10.1086/302343.CrossRefPubMedPubMedCentral

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071. https://doi.org/10.1038/nrdp.2015.71.CrossRefPubMedPubMedCentral

Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, et al. Neurobiological perspective of 22q11.2 deletion syndrome. Lancet Psychiatry. 2019;6:951–60. https://doi.org/10.1016/S2215-0366(19)30076-8.CrossRefPubMedPubMedCentral

Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord. 2007;37:1776–86. https://doi.org/10.1007/s10803-006-0308-6.CrossRefPubMed

Bruining H, de Sonneville L, Swaab H, de Jonge M, Kas M, van Engeland H, et al. Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS ONE. 2010;5:1–7. https://doi.org/10.1371/journal.pone.0010887.CrossRef

10.

Ousley O, Nichole Evans A, Fernandez-Carriba S, Smearman EL, Rockers K, Morrier MJ, et al. Examining the overlap between autism spectrum disorder and 22q11.2 deletion syndrome. Int J Mol Sci. 2017;18:1–11. https://doi.org/10.3390/ijms18051071.CrossRef

11.

Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparsø T, Vangkilde A, et al. Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: a Danish nationwide, register-based study. JAMA Psychiatry. 2017;74:282–90. https://doi.org/10.1001/jamapsychiatry.2016.3939.CrossRefPubMed

12.

Niarchou M, Chawner SJRA, Fiksinski A, Vorstman JAS, Maeder J, Schneider M, et al. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophr Res. 2019;204:320–5. https://doi.org/10.1016/j.schres.2018.07.044.CrossRefPubMedPubMedCentral

13.

Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, van den Bree MBM, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. 2014;171:627–39. https://doi.org/10.1176/appi.ajp.2013.13070864.CrossRefPubMedPubMedCentral

14.

Fiksinski AM, Hoftman GD, Vorstman JAS, Bearden CE. A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome. Mol Psychiatry. 2023;28:341–53. https://doi.org/10.1038/s41380-022-01783-5.CrossRefPubMed

15.

Jonas RK, Montojo CA, Bearden CE. The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biol Psychiatry. 2014;75:351–60. https://doi.org/10.1016/j.biopsych.2013.07.019.CrossRefPubMed

16.

Perez VB, Swerdlow NR, Braff DL, Näätänen R, Light GA. Using biomarkers to inform diagnosis, guide treatments and track response to interventions in psychotic illnesses. Biomark Med. 2014;8:9–14. https://doi.org/10.2217/BMM.13.133.CrossRefPubMed

17.

Javitt DC, Spencer KM, Thaker GK, Winterer G, Hajós M. Neurophysiological biomarkers for drug development in schizophrenia. Nat Rev Drug Discov. 2008;7:68–83. https://doi.org/10.1038/nrd2463.CrossRefPubMedPubMedCentral

18.

Thaker GK. Neurophysiological endophenotypes across bipolar and schizophrenia psychosis. Schizophr Bull. 2008;34:760–73. https://doi.org/10.1093/schbul/sbn049.CrossRefPubMedPubMedCentral

19.

Turetsky BI, Calkins ME, Light GA, Olincy A, Radant AD, Swerdlow NR. Neurophysiological endophenotypes of schizophrenia: The viability of selected candidate measures. Schizophr Bull. 2007;33:69–94. https://doi.org/10.1093/schbul/sbl060.CrossRefPubMed

20.

Javitt DC, Siegel SJ, Spencer KM, Mathalon DH, Hong LE, Martinez A, et al. A roadmap for development of neuro-oscillations as translational biomarkers for treatment development in neuropsychopharmacology. Neuropsychopharmacology. 2020;45:1411–22. https://doi.org/10.1038/s41386-020-0697-9.CrossRefPubMedPubMedCentral

21.

Javitt DC, Freedman R. Sensory processing dysfunction in the personal experience and neuronal machinery of schizophrenia. Am J Psychiatry. 2015;172:17–31. https://doi.org/10.1176/appi.ajp.2014.13121691.CrossRefPubMed

22.

Javitt DC, Sweet RA. Auditory dysfunction in schizophrenia: Integrating clinical and basic features. Nat Rev Neurosci. 2015;16:535–50. https://doi.org/10.1038/nrn4002.CrossRefPubMedPubMedCentral

23.

Hamilton HK, Boos AK, Mathalon DH. Electroencephalography and event-related potential biomarkers in individuals at clinical high risk for psychosis. Biol Psychiatry. 2020;88:294–303. https://doi.org/10.1016/j.biopsych.2020.04.002.CrossRefPubMedPubMedCentral

24.

Hamilton HK, Roach BJ, Mathalon DH. Forecasting remission from the psychosis risk syndrome with mismatch negativity and p300: potentials and pitfalls. Biol Psychiatry Cogn Neurosci Neuroimaging. 2021;6:178–87. https://doi.org/10.1016/j.bpsc.2020.10.010.CrossRefPubMed

25.

Hamilton HK, Woods SW, Roach BJ, Llerena K, McGlashan TH, Srihari VH, et al. Auditory and visual oddball stimulus processing deficits in schizophrenia and the psychosis risk syndrome: forecasting psychosis risk with P300. Schizophr Bull. 2019;45:1068–80. https://doi.org/10.1093/schbul/sby167.CrossRefPubMed

26.

Mathalon DH, Hamilton H, Bachman P, Belger A, Carrion R, Duncan E, et al. Mismatch negativity and repetition positivity predict transition to psychosis in clinical high risk individuals. Int J Psychophysiol. 2016;108:37. https://doi.org/10.1016/j.ijpsycho.2016.07.122.CrossRef

27.

Hamilton HK, Williams TJ, Ventura J, Jasperse LJ, Owens EM, Miller GA, et al. Clinical and cognitive significance of auditory sensory processing deficits in schizophrenia. Am J Psychiatry. 2018;175:275–83. https://doi.org/10.1176/appi.ajp.2017.16111203.CrossRefPubMed

28.

Owens EM, Bachman P, Glahn DC, Bearden CE. Electrophysiological Endophenotypes for Schizophrenia. Harv Rev Psychiatry. 2016;24:129–47. https://doi.org/10.1097/HRP.0000000000000110.CrossRefPubMedPubMedCentral

29.

Parker DA, Hamm JP, McDowell JE, Keedy SK, Gershon ES, Ivleva EI, et al. Auditory steady-state EEG response across the schizo-bipolar spectrum. Schizophr Res. 2019;209:218–26. https://doi.org/10.1016/j.schres.2019.04.014.CrossRefPubMedPubMedCentral

30.

Parker DA, Trotti RL, McDowell JE, Keedy SK, Hill SK, Gershon ES, et al. auditory oddball responses across the schizophrenia-bipolar spectrum and their relationship to cognitive and clinical features. Am J Psychiatry. 2021;178:952–64. https://doi.org/10.1176/appi.ajp.2021.20071043.CrossRefPubMed

31.

Avissar M, Xie S, Vail B, Lopez-Calderon J, Wang Y, Javitt DC. Meta-analysis of mismatch negativity to simple versus complex deviants in schizophrenia. Schizophr Res. 2018;191:25–34. https://doi.org/10.1016/j.schres.2017.07.009.CrossRefPubMed

32.

del Pino I, Rico B, Marín O. Neural circuit dysfunction in mouse models of neurodevelopmental disorders. Curr Opin Neurobiol. 2018;48:174–82. https://doi.org/10.1016/j.conb.2017.12.013.CrossRefPubMed

33.

Fenton AA. Excitation-inhibition discoordination in rodent models of mental disorders. Biol Psychiatry. 2015;77:1079–88. https://doi.org/10.1016/j.biopsych.2015.03.013.CrossRefPubMedPubMedCentral

34.

Hamm JP, Peterka DS, Gogos JA, Yuste R. Altered Cortical Ensembles in mouse models of schizophrenia. Neuron. 2017;94:153-167.e8. https://doi.org/10.1016/j.neuron.2017.03.019.CrossRefPubMedPubMedCentral

35.

Hamm JP, Yuste R. Somatostatin interneurons control a key component of mismatch negativity in mouse visual cortex. Cell Rep. 2016;16:597–604. https://doi.org/10.1016/j.celrep.2016.06.037.CrossRefPubMedPubMedCentral

36.

Sigurdsson T. Neural circuit dysfunction in schizophrenia: Insights from animal models. Neuroscience. 2016;321:42–65. https://doi.org/10.1016/j.neuroscience.2015.06.059.CrossRefPubMed

37.

Massa N, Owens AV, Harmon W, Bhattacharya A, Ivleva EI, Keedy S, et al. Relationship of prolonged acoustic startle latency to diagnosis and biotype in the bipolar-schizophrenia network on intermediate phenotypes (B–SNIP) cohort. Schizophr Res. 2020;216:357–66. https://doi.org/10.1016/j.schres.2019.11.013.CrossRefPubMed

38.

Fargotstein M, Hasenkamp W, Gross R, Cuthbert B, Green A, Swails L, et al. The effect of antipsychotic medications on acoustic startle latency in schizophrenia. Schizophr Res. 2018;198:28–35. https://doi.org/10.1016/j.schres.2017.07.030.CrossRefPubMed

39.

da Lopes Silva FH, Pfurtscheller G. Event-related EEG/MEG synchronization and desynchronization: basic principles. Clin Neurophysiol. 1999;110:1842–57. https://doi.org/10.1016/S1388-2457(99)00141-8.CrossRef

40.

da Lopes Silva F. EEG and MEG: relevance to neuroscience. Neuron. 2013;80:1112–28. https://doi.org/10.1016/j.neuron.2013.10.017.CrossRef

41.

Javitt DC. Neurophysiological models for new treatment development in schizophrenia: Early sensory approaches. Ann N Y Acad Sci. 2015;1344:92–104. https://doi.org/10.1111/nyas.12689.CrossRefPubMedPubMedCentral

42.

Javitt DC, Steinschneider M, Schroeder CE, Arezzo JC. Role of cortical N-methyl-D-aspartate receptors in auditory sensory memory and mismatch negativity generation: implications for schizophrenia. Proc Natl Acad Sci U S A. 1996;93:11962–7. https://doi.org/10.1073/pnas.93.21.11962.CrossRefPubMedPubMedCentral

43.

Umbricht D, Krljesb S. Mismatch negativity in schizophrenia: A meta-analysis. Schizophr Res. 2005;76:1–23. https://doi.org/10.1016/j.schres.2004.12.002.CrossRefPubMed

44.

O’Donnell BF, Vohs JL, Krishnan GP, Rass O, Hetrick WPMSL. The auditory steady-state response (ASSR): a translational biomarker for schizophrenia. Suppl Clin Neurophysiol. 2013;62:101–12. https://doi.org/10.1530/ERC-14-0411.Persistent.CrossRefPubMedPubMedCentral

45.

Koshiyama D, Miyakoshi M, Joshi YB, Molina JL, Tanaka-Koshiyama K, Sprock J, et al. Abnormal effective connectivity underlying auditory mismatch negativity impairments in schizophrenia. Biol Psychiatry Cogn Neurosci Neuroimaging. 2020;5:1028–39. https://doi.org/10.1016/j.bpsc.2020.05.011.CrossRefPubMed

46.

Narayanan B, Ethridge LE, O’Neil K, Dunn S, Mathew I, Tandon N, et al. Genetic sources of subcomponents of event-related potential in the dimension of psychosis analyzed from the B-SNIP study. Am J Psychiatry. 2015;172:466–78. https://doi.org/10.1176/appi.ajp.2014.13101411.CrossRefPubMedPubMedCentral

47.

Thomas O, Parker D, Trotti R, McDowell J, Gershon E, Sweeney J, et al. Intrinsic neural activity differences in psychosis biotypes: findings from the Bipolar-Schizophrenia Network on Intermediate Phenotypes (B-SNIP) consortium. Biomark Neuropsychiatry. 2019;1:100002. https://doi.org/10.1016/j.bionps.2019.100002.CrossRefPubMedPubMedCentral

48.

Tomescu MI, Rihs TA, Becker R, Britz J, Custo A, Grouiller F, et al. Deviant dynamics of EEG resting state pattern in 22q11.2 deletion syndrome adolescents: a vulnerability marker of schizophrenia? Schizophr Res. 2014;157:175–81. https://doi.org/10.1016/j.schres.2014.05.036.CrossRefPubMed

49.

Foss-Feig JH, Adkinson BD, Ji JL, Yang G, Srihari VH, McPartland JC, et al. Searching for cross-diagnostic convergence: neural mechanisms governing excitation and inhibition balance in schizophrenia and autism spectrum disorders. Biol Psychiatry. 2017;81:848–61. https://doi.org/10.1016/j.biopsych.2017.03.005.CrossRefPubMedPubMedCentral

50.

Krystal JH, Anticevic A, Yang GJ, Dragoi G, Driesen NR, Wang XJ, et al. Impaired tuning of neural ensembles and the pathophysiology of schizophrenia: a translational and computational neuroscience perspective. Biol Psychiatry. 2017;81:874–85. https://doi.org/10.1016/j.biopsych.2017.01.004.CrossRefPubMedPubMedCentral

51.

Tatti R, Haley MS, Swanson OK, Tselha T, Maffei A. Neurophysiology and regulation of the balance between excitation and inhibition in neocortical circuits. Biol Psychiatry. 2017;81:821–31. https://doi.org/10.1016/j.biopsych.2016.09.017.CrossRefPubMed

52.

Nuechterlein KH, Green MF, Kern RS. The MATRICS consensus cognitive battery: an update. In: Barch DM, Young JW, editors. Cognitive functioning in schizophrenia: leveraging the RDoC framework, cham. Springer International Publishing; 2023. p. 1–18. https://doi.org/10.1007/7854_2022_395.CrossRef

53.

Addington J, Cadenhead KS, Cornblatt BA, Mathalon DH, McGlashan TH, Perkins DO, et al. North American Prodrome Longitudinal Study (NAPLS 2): Overview and recruitment. Schizophr Res. 2012;142:77–82. https://doi.org/10.1016/j.schres.2012.09.012.CrossRefPubMedPubMedCentral

54.

Addington J, Liu L, Brummitt K, Bearden CE, Cadenhead KS, Cornblatt BA, et al. North American Prodrome Longitudinal Study (NAPLS 3): Methods and baseline description. Schizophr Res. 2020;243:262–7. https://doi.org/10.1016/j.schres.2020.04.010.CrossRefPubMedPubMedCentral

55.

Grskovic M, Javaherian A, Strulovici B, Daley GQ. Induced pluripotent stem cells — opportunities for disease modelling and drug discovery. Nat Rev Drug Discov. 2011;10:915–29. https://doi.org/10.1038/nrd3577.CrossRefPubMed

56.

Lin M, Pedrosa E, Hrabovsky A, Chen J, Puliafito BR, Gilbert SR, et al. Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion. BMC Syst Biol. 2016;10:105. https://doi.org/10.1186/s12918-016-0366-0.CrossRefPubMedPubMedCentral

57.

De Los AA, Fernando MB, Hall NAL, Brennand KJ, Harrison PJ, Maher BJ, et al. Induced pluripotent stem cells in psychiatry: an overview and critical perspective. Biol Psychiatry. 2021;90:362–72. https://doi.org/10.1016/j.biopsych.2021.04.008.CrossRef

58.

Brodey BB, First M, Linthicum J, Haman K, Sasiela JW, Ayer D. Validation of the NetSCID: an automated web-based adaptive version of the SCID. Compr Psychiatry. 2016;66:67–70. https://doi.org/10.1016/j.comppsych.2015.10.005.CrossRefPubMed

59.

Shapiro DI, Cubells JF, Ousley OY, Rockers K, Walker EF. Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder. Schizophr Res. 2011;129:20–8. https://doi.org/10.1016/j.schres.2011.03.030.CrossRefPubMedPubMedCentral

60.

Stoddard J, Niendam T, Hendren R, Carter C, Simon TJ. Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophr Res. 2010;118:118–21. https://doi.org/10.1016/j.schres.2009.12.011.CrossRefPubMedPubMedCentral

61.

Tang SX, Moore TM, Calkins ME, Yi JJ, Savitt A, Kohler CG, et al. The psychosis spectrum in 22q11.2 deletion syndrome is comparable to that of nondeleted youths. Biol Psychiatry. 2017;82:17–25. https://doi.org/10.1016/j.biopsych.2016.08.034.CrossRefPubMed

62.

Mcglashan TH, Fenton WS. Subtype progression and pathophysiologic deterioration in early schizophrenia. Schizophr Bull. 1993;19:71–84. https://doi.org/10.1093/SCHBUL/19.1.71.CrossRefPubMed

63.

Abrams R, Taylor MA. A rating scale for emotional blunting. Am J Psychiatry. 1978;135:226–9. https://doi.org/10.1176/ajp.135.2.226.CrossRefPubMed

64.

Frazier TW, Ratliff KR, Gruber C, Zhang Y, Law PA, Constantino JN. Confirmatory factor analytic structure and measurement invariance of quantitative autistic traits measured by the Social Responsiveness Scale-2. Autism. 2014;18:31–44. https://doi.org/10.1177/1362361313500382.CrossRefPubMed

65.

Schopler E, Van Bourgondien ME, Wellman GJ, Love SR. The childhood autism rating scale. 2nd ed. Los Angeles, CA: Western Psychological Services; 2010.

66.

Conners CK, Erhardt D, Sparrow EP. Conners’ adult ADHD rating scales (CAARS): technical manual. NY: Multi-Health Systems North Tonawanda; 1999.

67.

Dumont R, Willis JO, Veizel K, Zibulsky J. Wechsler Abbreviated Scale of Intelligence. Encyclopedia Spec Educ. 2014. https://doi.org/10.1002/9781118660584.ese2519.CrossRef

68.

Nuechterlein KH, Green MF, Kern RS, Baade LE, Barch DM, Cohen JD, et al. The MATRICS consensus cognitive battery, part 1: test selection, reliability, and validity. Am J Psychiatry. 2008;165:203–13. https://doi.org/10.1176/appi.ajp.2007.07010042.CrossRefPubMed

69.

Seidman LJ, Giuliano AJ, Meyer EC, Addington J, Cadenhead KS, Cannon TD, et al. Neuropsychology of the prodrome to psychosis in the NAPLS consortium: relationship to family history and conversion to psychosis. Arch Gen Psychiatry. 2010;67:578–88. https://doi.org/10.1001/archgenpsychiatry.2010.66.CrossRefPubMedPubMedCentral

70.

Seidman LJ, Shapiro DI, Stone WS, Woodberry KA, Ronzio A, Cornblatt BA, et al. Association of neurocognition with transition to psychosis: baseline functioning in the second phase of the north american prodrome longitudinal study. JAMA Psychiat. 2016;73:1239–48. https://doi.org/10.1001/jamapsychiatry.2016.2479.CrossRef

71.

Feldstein SN, Keller FR, Portman RE, Durham RL, Klebe KJ, Davis HP. A comparison of computerized and standard versions of the Wisconsin card sorting test. Clin Neuropsychol. 1999;13:303–13.CrossRefPubMed

72.

Rockers K, Ousley O, Sutton T, Schoenberg E, Coleman K, Walker E, et al. Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11.2 deletion syndrome. J Intellect Disabil Res. 2009;53:665–76. https://doi.org/10.1111/j.1365-2788.2009.01178.x.CrossRefPubMed

73.

Braff DL, Grillon C, Geyer MA. Gating and habituation of the startle reflex in schizophrenic patients. Arch Gen Psychiatry. 1992;49:206–15. https://doi.org/10.1001/archpsyc.1992.01820030038005.CrossRefPubMed

74.

Perez VB, Woods SW, Roach BJ, Ford JM, McGlashan TH, Srihari VH, et al. Automatic auditory processing deficits in schizophrenia and clinical high-risk patients: forecasting psychosis risk with mismatch negativity. Biol Psychiatry. 2014;75:459–69. https://doi.org/10.1016/j.biopsych.2013.07.038.CrossRefPubMed

75.

Delorme A, Makeig S. EEGLAB: An open source toolbox for analysis of single-trial EEG dynamics including independent component analysis. J Neurosci Methods. 2004;134:9–21. https://doi.org/10.1016/j.jneumeth.2003.10.009.CrossRefPubMed

76.

Moratti S, Clementz BA, Gao Y, Ortiz T. 2007 AKPU-, Keil A. Neural mechanisms of evoked oscillations: Stability and interaction with transient events. Hum Brain Mapp. 2007;28:1318–33. https://doi.org/10.1002/hbm.20342.CrossRefPubMedPubMedCentral

77.

Hipp JF, Engel AK, Siegel M. Oscillatory synchronization in large-scale cortical networks predicts perception. Neuron. 2011;69:387–96. https://doi.org/10.1016/j.neuron.2010.12.027.CrossRefPubMed

78.

Faul F, Erdfelder E, Lang A-G, Buchner A. G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods. 2007;39:175–91. https://doi.org/10.3758/BF03193146.CrossRefPubMed

79.

Light GA, Swerdlow NR, Thomas ML, Calkins ME, Green MF, Greenwood TA, et al. Validation of mismatch negativity and P3a for use in multi-site studies of schizophrenia: characterization of demographic, clinical, cognitive, and functional correlates in COGS-2. Schizophr Res. 2015;163:63–72. https://doi.org/10.1016/J.SCHRES.2014.09.042.CrossRefPubMed

80.

Turetsky BI, Greenwood TA, Olincy A, Radant AD, Braff DL, Cadenhead KS, et al. Abnormal auditory N100 amplitude: a heritable endophenotype in first-degree relatives of schizophrenia probands. Biol Psychiatry. 2008;64:1051–9. https://doi.org/10.1016/j.biopsych.2008.06.018.CrossRefPubMedPubMedCentral

81.

Legget KT, Hild AK, Steinmetz SE, Simon ST, Rojas DC. MEG and EEG demonstrate similar test-retest reliability of the 40Hz auditory steady-state response. Int J Psychophysiol. 2017;114:16–23. https://doi.org/10.1016/j.ijpsycho.2017.01.013.CrossRefPubMedPubMedCentral

82.

Hall MH, Schulze K, Rijsdijk F, Picchioni M, Ettinger U, Bramon E, et al. Heritability and reliability of P300, P50 and duration mismatch negativity. Behav Genet. 2006;36:845–57. https://doi.org/10.1007/S10519-006-9091-6.CrossRefPubMed

83.

Javitt DC, Lee M, Kantrowitz JT, Martinez A. Mismatch negativity as a biomarker of theta band oscillatory dysfunction in schizophrenia. Schizophr Res. 2018;191:51–60. https://doi.org/10.1016/j.schres.2017.06.023.CrossRefPubMed

84.

Womelsdorf T, Valiante TA, Sahin NT, Miller KJ, Tiesinga P. Dynamic circuit motifs underlying rhythmic gain control, gating and integration. Nat Neurosci. 2014;17:1031–9. https://doi.org/10.1038/nn.3764.CrossRefPubMed

85.

Murphy MM, Lindsey Burrell T, Cubells JF, España RA, Gambello MJ, Goines KCB, et al. Study protocol for The emory 3q29 project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome. BMC Psychiatry. 2018;18:183. https://doi.org/10.1186/s12888-018-1760-5.CrossRefPubMedPubMedCentral

86.

Buttermore E, Chamberlain S, Cody J, Costain G, Dang L, DeWoody A, et al. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. Am J Hum Genet. 2022;109:1353–65. https://doi.org/10.1016/j.ajhg.2022.07.003.CrossRef

Title: Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes
Authors: David A. Parker
Joseph F. Cubells
Sid L. Imes
Gabrielle A. Ruban
Brett T. Henshey
Nicholas M. Massa
Elaine F. Walker
Erica J. Duncan
Opal Y. Ousley
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Electroencephalography
Schizophrenia
Autism Spectrum Disorder
Published in: BMC Psychiatry / Issue 1/2023
Electronic ISSN: 1471-244X
DOI: https://doi.org/10.1186/s12888-023-04888-5

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes

Abstract

Background

Methods

Discussion

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Abstract

Background

Methods

Discussion

Please log in to get access to this content

Other articles of this Issue 1/2023

Machine learning applied to fMRI patterns of brain activation in response to mutilation pictures predicts PTSD symptoms

Consultations for refractory cases in mental health services: a descriptive study

Differences in autonomic nervous system activity between long-acting injectable aripiprazole and oral aripiprazole in schizophrenia

Correction: Decisional conflict, caregiver mastery, and depression among Chinese parental caregivers of children with leukemia

Mental health professionals’ expectations and efforts to include employment for people with moderate to severe mental illness in treatment settings

Effects of brief cognitive behavioral therapy on mental health in substance-related disorder: a randomized controlled trial