Click here to download

Reversal learning in children with typical development and children with DiGeorge syndrome
Author/s: Jessyka Marciano 
Year:  2017 Issue: 40 Language: Italian 
Pages:  18 Pg. 38-55 FullText PDF:  143 KB
DOI:  10.3280/QPC2017-040003
(DOI is like a bar code for intellectual property: to have more infomation:  clicca qui   and here 

DiGeorge Syndrome is caused by a deletion of 22 chromosome and in this syndromic framework there is an impairment of dopaminergic network crucial in learning. Reversal learning involves the adaptation of behaviour according to changes in stimulus-reward contingencies; a damage to the orbitofrontal cortex has been linked to impaired renforcement processing. The present study tries to understand if there is a link between DiGeorge Syndrome and the reversal learning ability and so a connection with learning. The study is divided into two parts. In the first part a reversal learning task with probabilistic feedback was administered to 119 children with typical development, split into 3 groups to observe when the reversal learning ability appears. In the second part, a sample of 10 children with DiGeorge Syndrome completed WISC-R in addition to the reversal learning task; they were then compared to 24 children with typical development. Results suggest that the ability of reversal learning appears similarly in children with typical development, and learning seems to be merely slower in DiGeorge Syndrome.
Keywords: Children, DiGeorge Syndrome, reversal, reward, learning.

  1. Budhani S., Blair R.J. (2005). Response reversal and children with psychopathic tendencies. J. Child Psychol. Psychiatry, 46(9):972-981.
  2. Cameron A. (1965). Malformations of the thymus and cardiovascular system. Arch. Dis. Child, 40: 334A.
  3. Campbell L.E., Daly E., Toal F., Stevens A., Azuma R., Catani M. et al. (2006). Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain, 129(Pt 5): 1218-1228.
  4. Campbell L.E., McCabe K.L., Melville J.L., Strutt P.A., Schall U. (2015). Social cognition dysfunction in adolescents with 22q11.2 deletion syndrome (velo-cardio-facial syndrome): relationship with executive functioning and social competence/functioning. J. Intellect. Disabil. Res., 59: 845-59.
  5. Cardenas-Rivero N., Chernow B., Stoiko M.A., Nussbaum R., Todres I.D. (1989). Hypocalcemia in critically children. J. Pediatr., 114: 946-951., DOI: 10.1016/S0022-3476(89)80435-
  6. Carey A.H., Kelly D., Halford S., Wadey R., Wilson D., Goodship J., Burn J., Paul T., Sharkey A., Dumanski J., Nordenskjold M., Williamson R., Scambler P.J. (1992). Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am. J. Hum. Genet., 51: 964-970.
  7. Coman I.L., Gnirke M.H., Middleton F.A., Antshel K.M., Fremont W., Higgins A.M., Shprintzen R.J., Kates W.R. (2010). The effects of gender and Catechol O-Methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome): a Fmri study. Neuroimage, 15, 53(3): 1043-1050.
  8. 2010.01.094
  9. Conley M.E., Beckwith J.B., Mancer J.F.K., Tenckhoff L. (1979). The spectrum of the DiGeorge syndrome. J. Pediatr., 94: 883-890., DOI: 10.1016/S0022-3476(80)80599-
  10. Consevage M.W., Seip J.R., Belchis D.A., Davis A.T., Baylen B.G., Rogan P.K. (1996). Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am. J. Cardiol., 77: 1023-1025., DOI: 10.1016/S0002-9149(97)89165-
  11. Cuneo B.F., Langman C.B., Ilbawi M.N., Ramakrishnan V., Cutilletta A., Driscoll D.A. (1996). Latent hypoparathiroidism in children with conotruncal cardiac defects. Circulation, 93: 1702-1708.
  12. de Sousa N.M., Gil M.S., McIlvane W.J. (2015). Discrimination and Reversal Learning by Toddlers Aged 15-23 Months. Psychol. Rec., 65(1): 41-47.
  13. DeBoer T., Wu Z., Lee A., Simon T.J. (2007). Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behavioral and Brain Functions, 3: 54., DOI: 10.1186/1744-9081-3-5
  14. Demczuk S., Desmaze C., Aikem M., Prieur M., Ledeist F., Sanson M., Rouleau G., Thomas G., Aurias A. (1994). Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Ann. Genet., 37: 60-65.
  15. Desmaze C., Scambler P., Prieur M., Haldford S., Sidi D., Leidest F., Aurias A. (1993). Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum. Genet., 90: 663-665., DOI: 10.1007/BF0020248
  16. Devriendt K., Fryns J.P., Mortier G. (1998). The annual incidence of DiGeorge/velocardiofacial syndrome. J. Med. Genet., 35: 89-790.
  17. Dickstein D.P., Finger E.C., Brotman M.A., Rich B.A., Pine D.S., Blair J.R., Leibenluft E. (2010a). Impaired probabilistic reversal learning in youths with mood and anxiety disorders. Psychol Med., 40: 1089-1100., DOI: 10.1017/S003329170999146
  18. Dickstein D.P., Finger, E.C., Skup M., Pine D.S., Blair J.R., Leibenluft E. (2010b). Altered neural function in pediatric bipolar disorder during reversal learning. Bipolar Disorders, 12: 707-19.
  19. DiGeorge A.M. (1965). Discussion on a new concept of the cellular basis of immunity. J. Pediatr., 67: 907-908.
  20. Driscoll D.A., Bufard M.L., Emanuel B.S. (1992). A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet., 50: 924-933.
  21. Dufour F., Schaer M., Debbanè M., Farhoumand R., Glaser B., Eliez S. (2008). Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome. Neuropsychologia, 21, 46: 2986-2992.
  22. Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., Chaganti R.S., Magenis E., Shprintzen R.J., Morrow B.E. (1999). A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet., 8: 1157-1167.
  23. Eliez S., Schmitt J.E., White C.D., Reiss A.L. (2000). Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am. J. Psychiatry, 157: 409-15.
  24. Finger E.C., Marsh A.A., Mitchell D.G., Reid M.E., Sims C., Bhdhani S., Kosson D.S, Chen G., Towbin K.E., Leibenluft, E., Pine, D.S., Blair, J.R. (2008). Abnormal ventromedial prefrontal cortex function in children with psychopathic traits during reversal learning. Arch. Gen. Psychiatry, 65: 586-594.
  25. Finley J.P., Collins G.F., De Chadarévian J.P., Williams R.L. (1997). DiGeorge syndrome presenting as severe congenital heart disease in the newborn. CMA Journal, 116: 635-640.
  26. Gennery A.R. (2012). Immunological aspects of 22q11.2 deletion syndrome. Cell. Mol. Life Sci., 69: 17-27.
  27. Gerdes M., Solot C., Wang P.P., Moss E., LaRossa D., Randall P., Goldmuntz E., Clark B.J., Driscoll D.A., Jawad A., Emanuel B.S., McDonald-McGinn D.M., Batshaw M.L., Zackai E.H. (1999). Cognitive and Behavior Profile of Preschool Children With Chromosome 22q11.2 Deletion. American Journal of Medical Genetics, 85: 127-133.
  28. Goldmuntz E., Emanuel B.S. (1997). Genetic disorder of cardiac morphogenesis. The DiGeorge and velocardiofacial syndrome. Circ. Res., 80: 437-443., DOI: 10.1161/01.RES.80.4.43
  29. Hornak J., O’Doherty J., Bramham J., Rolls E.T., Morris R.G., Bullock P.R., Polkey C.E., (2004). Reward-related reversal learning after surgical excisions in orbitofrontal and dorsolateral prefrontal cortex in humans. J. Cogn. Neurosci., 16: 463-478., DOI: 10.1162/08989290432292679
  30. Itami S., Uno H. (2002). Orbitofrontal cortex dysfunction in attention-deficit hyperactivity disorder revealed by reversal and extinction tasks. NeuroReport, 13(18): 2453-2457.
  31. Jawad A.F., McDonald-McGinn D.M., Zackai E., Sullivan K.E. (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge/Velocardiofacial syndrome). J. Pediatr., 139: 715-723.
  32. Jolinn E.M., Weller R.A., Jessani N.R., Zackai E.H., McDonald-McGinn D.M., Weller E.B. (2009). Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J. of Affective Disorders, 9, 119: 177-180.
  33. Kates W.R., Burnette C.P., Jabs E.W., Rutberg J., Murphy A.M., Grados M. et al. (2001). Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis. Biological Psychiatry, 49(8): 677-684., DOI: 10.1016/S0006-3223(00)01002-
  34. Kates W.R., Burnette C.P., Bessette B.A., Folley B.S., Strunge L., Jabs E.W., Pearlson G.D. (2004). Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2. J. Child Neurol., 19: 337-42., DOI: 10.1177/08830738040190050
  35. Kates W.R., Antshel K.M., AbdulSabur N., Colgan D., Funke B., Fremont W., Higgins A.M., Kucherlapati R., Shprintzen R.J. (2006). A Gender-Moderated Effect of a Functional COMT Polymorphism on Prefrontal Brain Morphology and Function in Velo-cardio-facial Syndrome (22q11.2 Deletion Syndrome). Am. J. Med. Genet. B. Neuropsychiatr. Genet., 141B(3): 274-280.
  36. Kates W.R., Krauss B.R., AbdulSabur N., Colgan D., Antshel K.M., Higgins A.M., Shprintzen R.J. (2007) The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia, 45(12): 2863-2873.
  37. Kates W.R, Antshel K.M., Faraone S.V., Fremont W.P., Higgins A.M., Shprintzen R.J., Botti J., Kelchner L., McCarthy C. (2011). Neuroanatomic predictors to prodomal psychosis in Velocardiofacial syndrome (22q11.2 deletion syndrome): A longitudinal study. Biol. Psychiatry, 69: 945-952
  38. Kates W.R. Tang K.L., Antshel K.M., Fremont W.P. (2015). Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome. J. Dev. Behav. Pediatr., 36(8): 639-50., DOI: 10.1097/DBP.000000000000021
  39. Kinouchi A., Mori K., Ando M., Takao A. (1976). Facial appearance of patients with conotruncal anomalies. Pediatr. Jpn., 17: 84.
  40. Kringelbach M.L., O’Doherty J., Rolls E.T., Andrews C. (2003). Activation of the human orbitofrontal cortex to a liquid food stimulus is correlated with its subjective pleasantness. Cereb. Cortex, 13: 1064-1071.
  41. Kringelbach M.L., Rolls E.T., (2003). Neural correlates of rapid context-dependent reversal learning in a simple model of human social interaction. Neuroimage, 20: 1371-1383., DOI: 10.1016/S1053-8119(03)00393-
  42. Kringelbach M.L., Rolls E.T., (2004). The functional neuroanatomy of the human orbitofrontal cortex:evidence from neuroimaging and neuropsychology. Progress in Neurobiology, 72: 341.372.
  43. Lionello-DeNorf Karen M., McIlvane William J., Canovas Daniela S., De Souza Deisy G., Barros Romaniz S. (2008). Reversal learning set and functionl equivalence in children with and without autism. Psychol Rec., 1, 58(1): 15-36.
  44. Machado A.M., Simon T.J., Nguyen V., McDonald-McGinn D.M., Zackai E.H., Gee J.C. (2007). Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res., 2, 1131(1): 197-210.
  45. Marino B., Digilio M.C., Toscano A., Giannotti A., Dallapiccola B. (1999). Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del 22q11. Genetic Counseling, 10: 25-33.
  46. Niklasson L., Rasmussen P., Oskarsdottir S., Gillberg C. (2001). Neuropsychiatric disorder in the 22q11 deletion syndrome. Genet Med., 3: 79-84.
  47. O’Doherty J., Kringelbach M.L., Rolls E.T., Hornak J., Andrews C. (2001). Abstract reward and punishment representations in the human orbitofrontal cortex. Nat. Neurosci., 4: 95-102., DOI: 10.1038/8295
  48. Rolls E.T. (1999a). The Brain and Emotion. Oxford: Oxford University Press.
  49. Rolls E.T. (1999b). The functions of the orbitofrontal cortex. Neurocase, 5: 301-312.
  50. Rolls E.T. (2000). The orbitofrontal cortex and reward. Cereb. Cortex., 10: 284-294.
  51. Rolls E.T. (2004). The functions of the orbitofrontal cortex. Brain Cogn., 55: 11-29., DOI: 10.1016/S0278-2626(03)00277-
  52. Schoenbaum G., Roesch M.R., Stalnaker T.A., Takahashi Y.K. (2009). A new perspective on the role of the orbitofrontal cortex in adaptive behaviour. Nat. Rev. Neurosci., 10: 885-892.
  53. Schultz W. (2002). Getting formal with dopamine and reward. Neuron, 36: 241-263., DOI: 10.1016/S0896-6273(02)00967-
  54. Shaikh T.H., Kurahashi H., Saitta S.C., O’Hare A.M., Hu P., Roe B.A., Driscoll D.A., McDonald-McGinn D.M., Zackai E.H., Budarf M.L. et al. (2000). Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum. Mol. Genet., 9: 489-501.
  55. Shashi V., Howard T.D., Keshavan M.S., Kaczorowski J., Berry M.N., Schoch K., Spence E.J., Kwapil T.R. (2010). COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome. Psychiatry Reserarch, 26, 178: 433-436.
  56. Shprintzen J., Goldberg R.B., Lewin M.L., Sidoti E.J., Berkman M.D., Argomoso R.V., Young D. (1978). A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate, 15: 56-62., DOI: 10.1097/00006534-197811000-0008
  57. Simon T.J. (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(1): 52-58.
  58. Simon T.J., Bish J.P., Bearden C.E., Ding L., Ferrante S., Nguyen V., Gee J.C., McDonald-McGinn D.M., Zackai E.H., Emanuel B.S. (2005). A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev. Psychopathol., 17(3): 753-784., DOI: 10.1017/S095457940505036
  59. Simon T.J., Wu Z., Avants B., Zhang H., Gee J.C., Stebbins G.T. (2008). Atypical cortical connectivity and visuospatial cognitive impairments are related in children with chromosome 22q11.2 deletion syndrome. Behavioral and Brain Functions, 4: 25., DOI: 10.1186/1744-9081-4-2
  60. Sobin C., Kiley-Brabeck K., Karayiorgou M. (2005). Lower Prepulse Inhibition in Children With the 22q11 Deletion Syndrome. Am. J. Psychiatry, 162: 1090-1099.
  61. Tan G.M., Arnone D., Mclntos A.M., Ebmeier K.P. (2009). Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophrenia Research, 9, 115: 172-181.
  62. Tsuchida A., Doll B.B, Fellows L.K. (2010). Beyond reversal: a critical role for human orbitofrontal cortex in flexible learning from probabilistic feedback. Journal of Neuroscience, 30(50): 16868-16875., DOI: 10.1523/JNEUROSCI.1958-10.201
  63. Woodin M., Wang P.P., Aleman D., Mc-Donald-McGinn D.M., Zackai E.H., Moss E. (2001). Neuropsycological profile of children and adolescent with 22q11.2 microdeletion. Genet. Med., 3: 34-39., DOI: 10.1097/00125817-200101000-0000

Jessyka Marciano, Reversal learning in children with typical development and children with DiGeorge syndrome in "QUADERNI DI PSICOTERAPIA COGNITIVA" 40/2017, pp. 38-55, DOI:10.3280/QPC2017-040003


FrancoAngeli is a member of Publishers International Linking Association a not for profit orgasnization wich runs the CrossRef service, enabing links to and from online scholarly content