Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability

Behavior Genetics

Volumn 42, Issue 2, 2012, Pages 287-298

  Vicari, Stefano ^a   Mantovan, Manuela ^b   Addona, Francesca ^a   Costanzo, Floriana ^a   Verucci, Lorena ^a   Menghini, Deny ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b PATHOLOGY UNIT   (Italy)

Author keywords

Developmental disorders; Intellectual disability; Neuropsychological profile; Velo cardio facial syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONTROLLED STUDY; DEPTH PERCEPTION; DISEASE ASSOCIATION; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; ITALY; LANGUAGE ABILITY; LINGUISTICS; LONG TERM MEMORY; MALE; MEMORY DISORDER; MENTAL TASK; MOTOR PERFORMANCE; NEUROPSYCHOLOGY; SHORT TERM MEMORY; TASK PERFORMANCE; VISION;

22Q11 DELETION SYNDROME; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; INTELLIGENCE; ITALY; MALE; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE;

EID: 84860679934     PISSN: 00018244     EISSN: 15733297     Source Type: Journal    
DOI: 10.1007/s10519-011-9499-5     Document Type: Article

References (79)

1. Allen DN, Frantom LV, Strauss GP, van Kammen DP (2005) Differential patterns of premorbid academic and social deterioration in patients with schizophrenia. Schizophr Res 75(2-3): 389-397 (Pubitemid 40693070)
2. Antshel KM, Fremont W, Kates WR (2008) The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective. Dev Disabil Res Rev 14:43-51 (Pubitemid 351716522)
3. Baker K, Chaddock CA, Baldeweg T, Skuse D (2011) Neuroanatomy in adolescents and young adults with 22q11 deletion syndrome: comparison to an IQ-matched group. Neuroimage 55(2):491-499
4. Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emannuel B, Cannon TD (2001) The neurocognitive phenotype of the 22q11.2 deletion syndrome: Selective deficit in visual-spatial memory. J Clin Exp Neuropsychol 23:447-464 (Pubitemid 32799913)
5. Beery K (1997) Developmental tests of visual-motor integration. Modern Curriculum Press, Parsippany
6. Bingham PM, Zimmerman RA, McDonald-McGinn D, Driscoll D, Emanuel BS, Zackai E (1997) Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. Am J Med Genet 74(5):538-543 (Pubitemid 27424223)
7. Bish JP, Nguyen V, Ding L, Ferrante S, Simon TJ (2004) Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Neuroreport 15(9):1413-1415 (Pubitemid 38925233)
8. Bish JP, Pendyal A, Ding L, Ferrante H, Nguyen V, McDonald- McGinn D, Zackai E, Simon TJ (2006) Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neurosci Lett 399(3):245-248
9. Boonstra AM, Oosterlaan J, Sergeant JA, Buitelaar JK (2005) Executive functioning in adult ADHD: A meta-analytic review. Psychol Med 35(8):1097-1108 (Pubitemid 41103002)
10. Bozzo MT, Mansueto Zecca G (1993) Adattamento italiano della Scala d'Intelligenza Stanford Binet Forma L-M nella revisione Terman-Merill, [Italian adaptation of the Stanford-Binet Intelligence Scale, Form L-M in the Terman-Merill revision]. Giunti O.S., Firenze
11. Braver TS, Cole MW, Yarkoni T (2010) Vive les differences! Individual variation in neural mechanisms of executive control. Curr Opin Neurobiol 20(2):242-250
12. Brewer WJ, Francey SM, Wood SJ, Jackson HJ, Pantelis C, Phillips LJ, Yung AR, Anderson VA, McGorry PD (2005) Memory impairments identified in people at ultra-high risk for psychosis who later develop firstepisode psychosis. Am J Psychiatry 162(1):71-78 (Pubitemid 40095675)
13. Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W et al (2006) Brain and behaviour in children with 22q112 deletion syndrome: A volumetric and voxel-based morphometry MRI study. Brain 129(5):1218-1228
14. Campbell LE, Stevens A, Daly E, Toal F, Azuma R, Karmiloff-Smith A, Murphy DG, Murphy KC (2009) A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia 47:1034-1044
15. Campbell LE, Azuma R, Ambery F, Stevens A, Smith A, Morris RG, Murphy DG, Murphy KC (2010) Executive functions and memory abilities in children with 22q11.2 deletion syndrome. Aust N Z J Psychiatry 44(4):364-371
16. Cusmano-Ozog K, Manning MA, Hoyme HE (2007) 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet 145C(4):393-398 (Pubitemid 350155978)
17. De Smedt B, Devriendt K, Fryns JP, Vogels A, Gewillig M, Swillen A (2007) Intellectual abilities in a large sample of children with velo-cardio-facial syndrome: An update. J Intellect Disabil Res 51(9):666-670 (Pubitemid 47249742)
18. DebbanéM, Glaser B, David MK, Feinstein C, Eliez S (2006a) Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications. Schizophr Res 84(2-3):187-193 (Pubitemid 44255603)
19. DebbanéM, Schaer M, Farhoumand R, Glaser B, Eliez S (2006b) Hippocampal volume reduction in 22q11.2 deletion syndrome. Neuropsychologia 44(12):2360-2365 (Pubitemid 44081931)
20. Deboer T, Wu Z, Lee A, Simon TJ (2007) Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behav Brain Funct 23(3):54
21. Devescovi A, Caselli MC (2001) Una prova di ripetizione di frasi per la valutazione del primo sviluppo grammaticale [A test of phrase repetition to evaluate the early development of grammar]. Psicologia Clinica dello Sviluppo 3:341-364
22. Devescovi A, Caselli MC, Ossella T, Alviggi FG (1992) Strumenti di indagine sulle prime fasi dello sviluppo linguistico: Risultati di una prova di ripetizione di frasi con bambini fra i due e i tre anni e mezzo [Methods of enquiry into the early phases in linguistic development: Results of a sentence repetition test in 2-3.5-yearold children]. Rassegna di Psicologia 2:29-54
23. Driscoll DA, Spinner NB, Budarf ML (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268
24. Dunn LM, Dunn LM (1981) Peabody picture vocabulary test-revised. American Guidance Service, Circle Pines
25. Eliez S, van Amelsvoort T (2005) Neuroimaging in velo-cardio-facial syndrome. In: Scambler KM (ed) Velo-cardio-facial syndrome: A model for understanding microdeletion disorders. University Press, Cambridge, pp 165-180
26. Eliez S, Palacio-Espasa F, Spira A, Lacroix M, Pont C, Luthi F, Robert-Tissot C, Feinstein C, Schorderet DF, Antonarakis SE, Cramer B (2000a) Young children with velo-cardio-facial syndrome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry 9(2):109-114 (Pubitemid 30430440)
27. Eliez S, Schmitt JE, White CD, Reiss AL (2000b) Children and adolescents with velocardiofacial syndrome: A volumetric MRI study. Am J Psychiatry 157(3):409-415 (Pubitemid 30145927)
28. Eliez S, Blasey CM, Menon V, White CD, Schmitt JE, Reiss AL (2001) Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet Med 3(1):49-55
29. Eliez S, Eliez S, Barnea-Goraly N, Schmitt JE, Liu Y, Reiss AL (2002) Increased basal ganglia volumes in velocardio-facial syndrome (Deletion 22q11.2). Biol Psychiatry 52:68-70 (Pubitemid 34655558)
30. Emanuel BS (2008) Molecular mechanisms and diagnosis of chromosome 22Q11.2 rearrangements. Dev Disabil Res Rev 14(1):11-18 (Pubitemid 351716518)
31. Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ III, Driscoll DA, Jawad A et al (1999) Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 85(2):127-133 (Pubitemid 29288337)
32. Glaser B, Mumme DL, Blasey C, Morris MA, Dahoun SP, Antonarakis SE, Reiss AL, Eliez S (2002) Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr 140(6):753-758 (Pubitemid 34666697)
33. Glaser B, Schaer M, Berney S, DebbanéM, Vuilleumier P, Eliez S (2007) Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophr Res 96(1-3):82-86 (Pubitemid 47500145)
34. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ (1993) Velo-cardio-facial syndrome: A review of 120 patients. Am J Med Genet 45(3):313-319 (Pubitemid 23033146)
35. Golding-Kushner KJ, Weller G, Shprintzen RJ (1985) Velo-cardiofacial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol 5(3):259-266 (Pubitemid 15232643)
36. Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, Kwon H, Eliez S, Reiss AL (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 164(4):663-669 (Pubitemid 46650199)
37. Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ (2009) Velo-cardio-facial syndrome. J Ment Health Res Intellect Disabil 2(2):149-167
38. Hammil D, Pearson N, Voress J, Ianes D (1994) TPV, Test di percezione visiva e integrazione visuo-motoria [The visual perception and visual motor integration Test]. Erickson, Trento
39. Hawkins KA, Tulsky DS (2001) The influence of IQ stratification on WAIS-III/WMS-III FSIQ-general memory index discrepancy base-rates in the standardization sample. J Int Neuropsychol Soc 7(7):875-880 (Pubitemid 34026551)
40. Henry JC, van Amelsvoort T, Morris RG, Owen MJ, Murphy DG, Murphy KC (2002) An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia 40(5):471-478 (Pubitemid 33126319)
41. Jacobson C, Shearer J, Habel A, Kane F, Tsakanikos E, Kravariti E (2010) Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res 54(8):701-713
42. Jolin EM, Weller RA, Weller EB (2009) Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). Curr Psychiatry Rep 11(2):99-105
43. Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grados M, Geraghty M, Kaufmann WE, Pearlson GD (2001) Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis. Biol Psychiatry 49(8):677-684 (Pubitemid 32324129)
44. Lajiness-O'Neill RR, Beaulieu I, Titus JB, Asamoah A, Bigler ED, Bawle EV, Pollack R (2005) Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption? Child Neuropsychol 11(1):55-71 (Pubitemid 40524521)
45. Lajiness-O'Neill R, Beaulieu I, Asamoah A, Titus JB, Bawle E, Ahmad S, Kirk JW, Pollack R (2006) The neuropsychological phenotype of velocardiofacial syndrome (VCFS): Relationship to psychopathology. Arch Clin Neuropsychol 21(2):175-184 (Pubitemid 43117193)
46. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA (1996) Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature. Am J Med Genet 65(4):309-316
47. 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(1):27-36 (Pubitemid 46127391)
48. Majerus S, Glaser B, Van der Linden M, Eliez S (2006) A multiple case study of verbal short term memory in velo-cardio-facial syndrome. J Intellect Disabil Res 50:457-469
49. Majerus S, Van der Linden M, Braissand V, Eliez S (2007) Verbal short-term memory in individuals with chromosome 22q11.2 deletion: Specific deficit in serial order retention capacities? Am J Ment Retard 112(2):79-93 (Pubitemid 46493432)
50. Marotta L, Ronchetti C, Trasciani M, Vicari S (2008) Test CMF Valutazione delle competenze metafonologiche. Erickson, Trento
51. Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 103(1):70-80 (Pubitemid 28398389)
52. McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ III, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH (1997) The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1(2):99-108 (Pubitemid 127528777)
53. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH (2001) Phenotype of the 22q112 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genet Med 3(1):23-29
54. Mitnick RJ, Bello JA, Shprintzen RJ (1994) Brain anomalies in velocardio- facial syndrome. Am J Med Genet 54(2):100-106 (Pubitemid 24176735)
55. Moss EM, Batshaw ML, Solot CB, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Wang PP (1999) Psychoeducational profile of the 22q11 microdeletion: A complex pattern. J Pediatr 134(2):193-198 (Pubitemid 29089044)
56. Murphy KC (2002) Schizophrenia and velo-cardio-facial syndrome. Lancet 359:426-430 (Pubitemid 34158957)
57. Nicholas L, Brookshire R, Mc Lennan D, Schumacher J, Porrazzo S (1989) Revised administration and scoring procedures for the Boston Naming Test and norms for non-brain-damaged adults. Aphasiology 3:569-580 (Pubitemid 19226021)
58. Niklasson L, Gillberg C (2010) The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Res Dev Disabil 31(1):185-194
59. Pasini A, Paloscia C, Alessandrelli R, Porfirio MC, Curatolo P (2007) Attention and executive functions profile in drug naive ADHD subtypes. Brain Dev 29(7):400-408 (Pubitemid 46755531)
60. Persson C, Niklasson L, Oskarsdóttir S, Johansson S, Jönsson R, Söderpalm E (2006) Language skills in 5-8-year-old children with 22q11 deletion syndrome. Int J Lang Commun Disord 41(3):313-333 (Pubitemid 43791730)
61. Philip N, Bassett A (2011) Cognitive, behavioural and psychiatric phenotype in 22q112 deletion syndrome. Behav Genet 41(3):403-412
62. Reichenberg A, Harvey PD, Bowie CR, Mojtabai R, Rabinowitz J, Heaton RK, Bromet E (2009) Neuropsychological function and dysfunction in schizophrenia and psychotic affective disorders. Schizophr Bull 35(5):1022-1029
63. Rustioni D (1994) Sviluppo della comprensione linguistica nei bambini italiani. Presentazione di una scala evolutiva [Development of grammar comprehension in Italian children. Presentation of an evolutionary scale]. In Cornoldi C, Vianello R (eds) Handicap e apprendimento [Handicap and learning] Junior ed, Bergamo, pp 35-53
64. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34(10):798-804 (Pubitemid 27417432)
65. Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge critical locus. Lancet 3398(8802):1138-1139
66. Schalock RL, Borthwick-Duffy S, Bradley V, Buntix WHE, Coulter DL, Craig EM, Gomez SC, Luckasson R, Reeve A, Shogren KA et al (2010) Intellectual disability: diagnosis, classification and systems of support, 11th edn. American Association on Intellectual and Developmental Disabilities, Washington
67. Shashi V, Howard TD, Keshavan MS, Kaczorowski J, Berry MN, Schoch K, Spence EJ, Kwapil TR (2010) COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome. Psychiatry Res 178(2):433-436
68. Shprintzen RJ (2008) Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14(1):3-10 (Pubitemid 351716517)
69. 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(1):52-58 (Pubitemid 351716523)
70. Sobin C, Kiley-Brabeck K, Daniels S, Khuri J, Taylor L, Blundell M, Anyane-Yeboa K, Karayiorgou M (2005) Neuropsychological characteristics of children with the 22q1.1 deletion syndrome: A descriptive analysis. Child Neuropsychol 11(1):39-53 (Pubitemid 40524520)
71. Srivastava S, Buonocore MH, Simon TJ (2011) Atypical developmental trajectory of functionally significant cortical areas in children with chromosome 22q11.2 deletion syndrome. Hum Brain Mapp. doi:10.1002/hbm.21206
72. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP (1997) Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS. J Med Genet 34(6):453-458 (Pubitemid 27268121)
73. Swillen A, Vandeputte L, Cracco J, Maes B, Ghesquiere P, Devriendt K, Fryns JP (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(4):230-241 (Pubitemid 30438390)
74. van Amelsvoort T, Daly E, Robertson D, Suckling J, Ng V, Critchley H, Owen MJ, Henry J, Murphy KC, Murphy DG (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 (Pubitemid 32436806)
75. Vender C, Borgia R, Bruno S, Freo P, Zardini G (1981) Un test di ripetizione di frasi. Analisi delle performances in bambini normali [A test of sentence repetition. Analysis of performance in normal children]. Giornale di Neuropsichiatria Infantile 243:819-831
76. Vicari S (2007) PROMEA, Prove di Memoria e Apprendimento per l'età evolutiva [Memory and learning tests]. Giunti O.S., Firenze
77. Wang PP, Woodin MF, Kreps-Falk R, Moss EM (2000) Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol 42:422-427 (Pubitemid 30326669)
78. Wechsler D (1986) WISC-R-Scala di intelligenza Wechsler per bambini, riveduta [WISC-R-Wechsler Intelligence Scale for Children, revised]. Giunti O.S., Firenze
79. Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 3(1):34-39