Abstract
Difficulties in the recognition of emotions in expressive faces have been reported in people with 22q11.2 deletion syndrome (22q11.2DS). However, while low-intensity expressive faces are frequent in everyday life, nothing is known about their ability to perceive facial emotions depending on the intensity of expression. Through a visual matching task, children and adolescents with 22q11.2DS as well as gender- and age-matched healthy participants were asked to categorise the emotion of a target face among six possible expressions. Static pictures of morphs between neutrality and expressions were used to parametrically manipulate the intensity of the target face. In comparison to healthy controls, results showed higher perception thresholds (i.e. a more intense expression is needed to perceive the emotion) and lower accuracy for the most expressive faces indicating reduced categorisation abilities in the 22q11.2DS group. The number of intrusions (i.e. each time an emotion is perceived as another one) and a more gradual perception performance indicated smooth boundaries between emotional categories. Correlational analyses with neuropsychological and clinical measures suggested that reduced visual skills may be associated with impaired categorisation of facial emotions. Overall, the present study indicates greater difficulties for children and adolescents with 22q11.2DS to perceive an emotion in low-intensity expressive faces. This disability is subtended by emotional categories that are not sharply organised. It also suggests that these difficulties may be associated with impaired visual cognition, a hallmark of the cognitive deficits observed in the syndrome. These data yield promising tracks for future experimental and clinical investigations.
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References
Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11. 2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107
Shprintzen RJ (2008) Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev 14:3–10
Gothelf D, Frisch A, Munitz H et al (1999) Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome. Schizophr Res 35:105–112. doi:10.1016/S0920-9964(98)00114-5
Eliez S, Schmitt JE, White CD, Reiss AL (2000) Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am J Psychiatry 157:409–415
Simon TJ, Ding L, Bish JP et al (2005) Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11. 2 deletion syndrome: an integrative study. Neuroimage 25:169–180
Barnea-Goraly N, Eliez S, Menon V et al (2005) Arithmetic ability and parietal alterations: a diffusion tensor imaging study in Velocardiofacial syndrome. Cogn Brain Res 25:735–740. doi:10.1016/j.cogbrainres.2005.09.013
Van Amelsvoort T, Daly E, Robertson D et al (2001) Structural brain abnormalities associated with deletion at chromosome 22q11 Quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Br J Psychiatry 178:412–419. doi:10.1192/bjp.178.5.412
Eliez S, Schmitt JE, White CD et al (2001) A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiatry 49:540–546
Eliez S, Barnea-Goraly N, Schmitt JE et al (2002) Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11. 2). Biol Psychiatry 52:68–70
Kates WR, Burnette CP, Bessette BA et al (2004) Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11. 2). J Child Neurol 19:337–342
Kates WR, Miller AM, Abdulsabur N et al (2006) Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11. 2 deletion syndrome). J Am Acad Child Adolesc Psychiatry 45:587–595
Campbell LE, Daly E, Toal F et al (2006) Brain and behaviour in children with 22q11. 2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain 129:1218–1228
Schaer M, Eric Schmitt J, Glaser B et al (2006) Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study. Psychiatry Res Neuroimaging 146:1–11. doi:10.1016/j.pscychresns.2005.10.002
Gothelf D, Penniman L, Gu E et al (2007) Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study. Schizophr Res 96:72–81. doi:10.1016/j.schres.2007.07.021
Dufour F, Schaer M, Debbané M et al (2008) Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome. Neuropsychologia 46:2986–2992. doi:10.1016/j.neuropsychologia.2008.06.012
Bearden CE, van Erp TGM, Dutton RA et al (2009) Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex 19:115–126. doi:10.1093/cercor/bhn064
Flahault A, Schaer M, Ottet M-C et al (2012) Hippocampal volume reduction in chromosome 22q11.2 deletion syndrome (22q11.2DS): a longitudinal study of morphometry and symptomatology. Psychiatry Res Neuroimaging 203:1–5. doi:10.1016/j.pscychresns.2011.09.003
Jansen PW, Duijff SN, Beemer FA et al (2007) Behavioral problems in relation to intelligence in children with 22q11. 2 deletion syndrome: a matched control study. Am J Med Genet A 143:574–580
Niklasson L, Rasmussen P, Óskarsdóttir S, Gillberg C (2001) Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med 3:79–84. doi:10.1097/00125817-200101000-00017
Shprintzen RJ (2000) Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 6:142–147
Swillen A, Vandeputte L, Cracco J et al (1999) Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol 5:230–241. doi:10.1076/0929-7049(199912)05:04;1-R;FT230
Woodin M, Wang PP, Aleman D et al (2001) Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 3:34–39. doi:10.1097/00125817-200101000-00008
Eliez S, Palacio-Espasa F, Spira A et al (2000) Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry 9:109–114. doi:10.1007/s007870050005
Swillen A, Vogels A, Devriendt K, Fryns J-P (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
Feinstein C, Eliez S, Blasey C, Reiss AL (2002) Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 51:312–318
Antshel KM, Fremont W, Roizen NJ et al (2006) ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry 45:596–603
Green T, Gothelf D, Glaser B et al (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48:1060–1068. doi:10.1097/CHI.0b013e3181b76683
Fabbro A, Rizzi E, Schneider M et al (2012) Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS). Eur Child Adolesc Psychiatry 21:379–385. doi:10.1007/s00787-012-0273-x
Jolin EM, Weller RA, Weller EB (2012) Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11. 2 deletion syndrome. J Affect Disord 136:222–228
Shashi V, Veerapandiyan A, Schoch K et al (2012) Social skills and associated psychopathology in children with chromosome 22q11. 2 deletion syndrome: implications for interventions. J Intellect Disabil Res 56:865–878
Fine SE, Weissman A, Gerdes M et al (2005) Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11. 2 deletion syndrome. J Autism Dev Disord 35:461–470
Vorstman JA, Morcus ME, Duijff SN et al (2006) The 22q11. 2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 45:1104–1113
Antshel KM, Aneja A, Strunge L et al (2007) Autistic spectrum disorders in velo-cardio facial syndrome (22q11. 2 deletion). J Autism Dev Disord 37:1776–1786
Murphy KC (2002) Schizophrenia and velo-cardio-facial syndrome. Lancet 359:426–430
Baker KD, Skuse DH (2005) Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry 186:115–120
Jalbrzikowski M, Carter C, Senturk D et al (2012) Social cognition in 22q11.2 microdeletion syndrome: relevance to psychosis? Schizophr Res 142:99–107. doi:10.1016/j.schres.2012.10.007
Schneider M, Schaer M, Mutlu AK et al (2014) Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach. Eur Child Adolesc Psychiatry 23:425–436. doi:10.1007/s00787-013-0469-8
Tang SX, Yi JJ, Calkins ME et al (2014) Psychiatric disorders in 22q11. 2 deletion syndrome are prevalent but undertreated. Psychol Med 44:1267–1277
Debbané M, Glaser B, David MK et al (2006) Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications. Schizophr Res 84:187–193. doi:10.1016/j.schres.2006.01.019
Gothelf D, Feinstein C, Thompson T et al (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11. 2 deletion syndrome. Am J Psychiatry 164:663–669
Stoddard J, Niendam T, Hendren R et al (2010) Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophr Res 118:118–121. doi:10.1016/j.schres.2009.12.011
Schneider M, Van der Linden M, Glaser B et al (2012) Preliminary structure and predictive value of attenuated negative symptoms in 22q11. 2 deletion syndrome. Psychiatry Res 196:277–284
Murphy KC (2005) Annotation: velo-cardio-facial syndrome. J Child Psychol Psychiatry 46:563–571. doi:10.1111/j.1469-7610.2005.00408.x
Karayiorgou M, Simon TJ, Gogos JA (2010) 22q11. 2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci 11:402–416
Xu B, Roos JL, Levy S et al (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40:880–885
Bassett AS, Scherer SW, Brzustowicz LM (2010) Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 167:899–914. doi:10.1176/appi.ajp.2009.09071016
Bassett AS, Chow EW, AbdelMalik P et al (2003) The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 160:1580–1586
Monks S, Niarchou M, Davies AR et al (2014) Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome. Schizophr Res 153:231–236. doi:10.1016/j.schres.2014.01.020
Henry JC, Van Amelsvoort T, Morris RG et al (2002) An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia 40:471–478
Lajiness-O’Neill RR, Beaulieu I, Titus JB et al (2005) Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption? Child Neuropsychol 11:55–71. doi:10.1080/09297040590911202
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 144:27–36
Swillen A, Devriendt K, Legius E et al (1997) Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 34:453–458
Moss EM, Batshaw ML, Solot CB et al (1999) Psychoeducational profile of the 22q11. 2 microdeletion: a complex pattern. J Pediatr 134:193–198
Bearden CE, Woodin MF, Wang PP et al (2001) The neurocognitive phenotype of the 22q11. 2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol 23:447–464
De Smedt B, Devriendt K, Fryns J-P et al (2007) Intellectual abilities in a large sample of children with Velo–Cardio–facial syndrome: an update. J Intellect Disabil Res 51:666–670
Sobin C, Kiley-Brabeck K, Daniels S et al (2005) Neuropsychological characteristics of children with the 22q11 deletion syndrome: a descriptive analysis. Child Neuropsychol 11:39–53
Simon TJ (2008) A new account of the neurocognitive foundations of impairments in space, time, and number processing in children with chromosome 22q11.2 deletion syndrome. Dev Disabil Res Rev 14:52–58. doi:10.1002/ddrr.8
Eliez S, Blasey CM, Schmitt EJ et al (2001) Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry 158:447–453
Gothelf D, Schaer M, Eliez S (2008) Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Dev Disabil Res Rev 14:59–68. doi:10.1002/ddrr.9
Schaer M, Debbané M, Bach Cuadra M et al (2009) Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study. Schizophr Res 115:182–190. doi:10.1016/j.schres.2009.09.016
Debbané M, Lazouret M, Lagioia A et al (2012) Resting-state networks in adolescents with 22q11.2 deletion syndrome: associations with prodromal symptoms and executive functions. Schizophr Res 139:33–39. doi:10.1016/j.schres.2012.05.021
McCabe K, Rich D, Loughland CM et al (2011) Visual scanpath abnormalities in 22q11.2 deletion syndrome: is this a face specific deficit? Psychiatry Res 189:292–298. doi:10.1016/j.psychres.2011.06.012
Campbell LE, Stevens AF, McCabe K et al (2011) Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? J Neurodev Disord 3:152–161. doi:10.1007/s11689-011-9082-7
Campbell L, McCabe K, Leadbeater K et al (2010) Visual scanning of faces in 22q11.2 deletion syndrome: attention to the mouth or the eyes? Psychiatry Res 177:211–215. doi:10.1016/j.psychres.2009.06.007
McCabe KL, Melville JL, Rich D et al (2013) Divergent patterns of social cognition performance in autism and 22q11. 2 deletion syndrome (22q11DS). J Autism Dev Disord 43:1926–1934
Glaser B, Debbané M, Ottet M-C et al (2010) Eye gaze during face processing in children and adolescents with 22q11. 2 deletion syndrome. J Am Acad Child Adolesc Psychiatry 49:665–674
Haxby JV, Hoffman EA, Gobbini MI (2000) The distributed human neural system for face perception. Trends Cogn Sci 4:223–233
Glaser B, Schaer M, Berney S et al (2007) Structural changes to the fusiform gyrus: a cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophr Res 96:82–86. doi:10.1016/j.schres.2007.08.016
Van Amelsvoort T, Schmitz N, Daly E et al (2006) Processing facial emotions in adults with velo-cardio-facial syndrome: functional magnetic resonance imaging. Br J Psychiatry 189:560–561. doi:10.1192/bjp.bp.105.019876
Andersson F, Glaser B, Spiridon M et al (2008) Impaired activation of face processing networks revealed by functional magnetic resonance imaging in 22q11.2 deletion syndrome. Biol Psychiatry 63:49–57. doi:10.1016/j.biopsych.2007.02.022
Ekman P, Friesen WV, Ellsworth P (1972) Emotion in the human face: guidelines for research and an integration of findings. Pergamon Press, Oxford
Etcoff NL, Magee JJ (1992) Categorical perception of facial expressions. Cognition 44:227–240
Calder AJ, Young AW, Perrett DI et al (1996) Categorical perception of morphed facial expressions. Vis Cogn 3:81–118
Young AW, Rowland D, Calder AJ et al (1997) Facial expression megamix: tests of dimensional and category accounts of emotion recognition. Cognition 63:271–313
Schneider M, Van der Linden M, Menghetti S et al (2014) Predominant negative symptoms in 22q11.2 deletion syndrome and their associations with cognitive functioning and functional outcome. J Psychiatr Res 48:86–93. doi:10.1016/j.jpsychires.2013.10.010
Baudouin J-Y, Martin F, Tiberghien G et al (2002) Selective attention to facial emotion and identity in schizophrenia. Neuropsychologia 40:503–511
Martin F, Baudouin J-Y, Tiberghien G, Franck N (2005) Processing emotional expression and facial identity in schizophrenia. Psychiatry Res 134:43–53. doi:10.1016/j.psychres.2003.12.031
Kay SR, Flszbein A, Opfer LA (1987) The positive and negative syndrome scale (PANSS) for schizophrenia. Schizophr Bull 13:261
Wechsler D (2005) WISC IV—Echelle d’intelligence de Wechsler pour enfants et adolescents—Quatrième Edition. ECPA, Paris
Weschler D (2011) WAIS IV—Nouvelle version de l’échelle d’intelligence de Wechsler pour adultes—Quatrième édition. ECPA, Paris
Wechsler D (2001) MEM-III: Echelle clinique de mémoire de Wechsler—Troisième édition. ECPA, Paris
Wallon P, Mesmin C (2009) Test de la figure complexe de Rey. ECPA, Paris
Benton AL, Hamsher KD, Varney NR, Spreen O (1983) Judgment of line orientation. Oxford University Press, New York
Brickenkamp R (1998) Test d’attention concentrée-d2. ECPA, Paris
Chambon V, Baudouin J-Y, Franck N (2006) The role of configural information in facial emotion recognition in schizophrenia. Neuropsychologia 44:2437–2444
Durand K, Gallay M, Seigneuric A et al (2007) The development of facial emotion recognition: the role of configural information. J Exp Child Psychol 97:14–27
Kim H, Somerville LH, Johnstone T et al (2003) Inverse amygdala and medial prefrontal cortex responses to surprised faces. NeuroReport 14:2317–2322
Kim H, Somerville L, Johnstone T et al (2004) Contextual modulation of amygdala responsivity to surprised faces. J Cogn Neurosci 16:1730–1745
Vernet M, Baudouin J-Y, Franck N (2008) Facial emotion space in schizophrenia. Cognit Neuropsychiatry 13:59–73. doi:10.1080/13546800701795228
Giersch A, Glaser B, Pasca C et al (2014) Individuals with 22q11.2 deletion syndrome are impaired at explicit, but not implicit, discrimination of local forms embedded in global structures. Am J Intellect Dev Disabil 119:261–275. doi:10.1352/1944-7558-119.3.261
Antshel KM, Peebles J, AbdulSabur N et al (2008) Associations between performance on the Rey–Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. Dev Neuropsychol 33:601–622
Todd JJ, Marois R (2004) Capacity limit of visual short-term memory in human posterior parietal cortex. Nature 428:751–754. doi:10.1038/nature02466
Kiley-Brabeck K, Sobin C (2006) Social skills and executive function deficits in children with the 22q11 deletion syndrome. Appl Neuropsychol 13:258–268
Ochsner KN (2008) The social-emotional processing stream: five core constructs and their translational potential for schizophrenia and beyond. Biol Psychiatry 64:48–61. doi:10.1016/j.biopsych.2008.04.024
Demily C, Weiss T, Desmurget M et al (2011) Recognition of self-generated facial emotions is impaired in schizophrenia. J Neuropsychiatry Clin Neurosci 23:189–193
Acknowledgments
The authors wish to thank all the participants and their families who generously participated in the study. They also wish to thank the two anonymous reviewers for their constructive comments on previous versions of the paper. This research was funded by the “Conseil Scientifique de la Recherche” of Le Vinatier Psychiatric Hospital in Lyon, France.
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Leleu, A., Saucourt, G., Rigard, C. et al. Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome. Eur Child Adolesc Psychiatry 25, 297–310 (2016). https://doi.org/10.1007/s00787-015-0741-1
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DOI: https://doi.org/10.1007/s00787-015-0741-1