Functional outcomes of adults with 22q11.2 deletion syndrome

Genetics in Medicine

Volumn 14, Issue 10, 2012, Pages 836-843

  Butcher, Nancy J ^a,b   Chow, Eva W C ^a,c   Costain, Gregory ^a,b   Karas, Dominique ^a   Ho, Andrew ^a   Bassett, Anne S ^a,b,c,d  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

22q11 deletion syndrome; adaptive functioning; congenital; heart defects; intellectual disability; schizophrenia

Indexed keywords

ADAPTATION; ADOLESCENT; ADULT; ANXIETY DISORDER; ARTICLE; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; DAILY LIFE ACTIVITY; EMPLOYMENT; FEMALE; FUNCTIONAL DISEASE; GENE DELETION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DISEASE; MOOD DISORDER; PREDICTIVE VALUE; SCHIZOPHRENIA; SOCIALIZATION;

EID: 84867223706     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.66     Document Type: Article

References (40)

1. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998;79:348-351.
2. Bassett AS, McDonald-McGinn DM, Devriendt K, et al.; International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011;159:332-9.e1.
3. Swillen A, Devriendt K, Legius E, et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997;34:453-458.
4. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 2005;138:307-313.
5. Chow EW, Watson M, Young DA, Bassett AS. Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res 2006;87: 270-278.
6. Fung WL, McEvilly R, Fong J, Silversides C, Chow E, Bassett A. Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am J Psychiatry 2010;167:998.
7. Parker G, Rosen A, Trauer T, Hadzi-Pavlovic D. Disability associated with mood states and comparator conditions: application of the Life Skills Profile measure of disability. Bipolar Disord 2007;9:11-15.
8. Massaro AN, El-Dib M, Glass P, Aly H. Factors associated with adverse neurodevelopmental outcomes in infants with congenital heart disease. Brain Dev 2008;30:437-446.
9. Salvador-Carulla L, Saxena S. Intellectual disability: between disability and clinical nosology. Lancet 2009;374:1798-1799.
10. Leifker FR, Bowie CR, Harvey PD. Determinants of everyday outcomes in schizophrenia: the influences of cognitive impairment, functional capacity, and symptoms. Schizophr Res 2009;115:82-87.
11. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011;90:1-18.
12. Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry 2007;61:1135-1140.
13. Fung WL, Chow EW, Webb GD, Gatzoulis MA, Bassett AS. Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol 2008;131:51-58.
14. Bassett AS, Costain G, Fung WL, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res 2010;44:1005-1009.
15. Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet 2008;17:4045-4053.
16. Bassett AS, Chow EW, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 2009;46:324-330.
17. Billett J, Cowie MR, Gatzoulis MA, Vonder Muhll IF, Majeed A. Comorbidity, healthcare utilisation and process of care measures in patients with congenital heart disease in the UK: crosssectional, population-based study with case-control analysis. Heart 2008;94:1194-1199.
18. Wechsler D. Wechsler Adult Intelligence Scale-Revised. The Psychological Corporation: San Antonio, TX, 1981.
19. Wechsler D. Wechsler Adult Intelligence Scale-III (WAIS-III). The Psychological Corporation: San Antonio, TX, 1997.
20. Sparrow S, Balla D, Cicchetti D. Vineland Adaptive Behavior Scales. American Guidance Service: Circle Pines, 1984.
21. Carter AS, Volkmar FR, Sparrow SS, et al. The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism. J Autism Dev Disord 1998;28:287-302.
22. Di Nuovo SF, Buono S. Psychiatric syndromes comorbid with mental retardation: differences in cognitive and adaptive skills. J Psychiatr Res 2007;41:795-800.
23. Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am J Med Genet A 2007;143A:1198-1203.
24. Adams D, Oliver C. The relationship between acquired impairments of executive function and behaviour change in adults with Down syndrome. J Intellect Disabil Res 2010;54:393-405.
25. Limperopoulos C, Majnemer A, Shevell MI, et al. Functional limitations in young children with congenital heart defects after cardiac surgery. Pediatrics 2001;108:1325-1331.
26. Jacobson C, Shearer J, Habel A, Kane F, Tsakanikos E, Kravariti E. Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res 2010;54:701-713.
27. Philip N, Bassett A. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet 2011;41:403-412.
28. Costain G, Chow EW, Silversides CK, Bassett AS. Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 2011;48:819-824.
29. Zeltser I, Jarvik GP, Bernbaum J, et al. Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. J Thorac Cardiovasc Surg 2008;135:91-97.
30. Su CY, Chen CC, Wuang YP, Lin YH, Wu YY. Neuropsychological predictors of everyday functioning in adults with intellectual disabilities. J Intellect Disabil Res 2008;52(Pt 1):18-28.
31. Stephens DL, Collins MD, Dodder RA. A longitudinal study of employment and skill acquisition among individuals with developmental disabilities. Res Dev Disabil 2005;26:469-486.
32. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-29.
33. Lima K, Følling I, Eiklid KL, Natvig S, Abrahamsen TG. Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 2010;169:983-989.
34. Antshel KM, AbdulSabur N, Roizen N, Fremont W, Kates WR. Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS). Dev Neuropsychol 2005;28:849-869.
35. Debbané M, Glaser B, David MK, Feinstein C, Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Schizophr Res 2006;84:187-193.
36. Gothelf D, Feinstein C, Thompson T, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 2007;164:663-669.
37. Roizen NJ, Higgins AM, Antshel KM, Fremont W, Shprintzen R, Kates WR. 22q11.2 deletion syndrome: are motor deficits more than expected for IQ level? J Pediatr 2010;157:658-661.
38. van Amelsvoort T, Henry J, Morris R, et al. Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. Schizophr Res 2004;70:223-232.
39. Evers LJ, De Die-Smulders CE, Smeets EE, Clerkx MG, Curfs LM. The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. Genet Couns 2009;20:307-315.
40. Perrig WJ, Hollenstein M, Oelhafen S. Can we improve fluid intelligence with training on working memory in persons with intellectual disabilities? J Cogn Edu Psychol 2009;8:148-164.