A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes

European Psychiatry

Volumn 29, Issue 4, 2014, Pages 203-210

  Zarchi, O ^a,b,c   Diamond, A ^d   Weinberger, R ^a   Abbott, D ^d   Carmel, M ^c   Frisch, A ^c   Michaelovsky, E ^c   Gruber, R ^g,h   Green, T ^c,e   Weizman, A ^c,f   Gothelf, D ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e BEER YAAKOV MENTAL HEALTH CENTER   (Israel)

^f GEHA MENTAL HEALTH CENTER   (Israel)

^g MCGILL UNIVERSITY   (Canada)

^h MCGILL UNIVERSITY   (Canada)

Author keywords

22q11.2 deletion syndrome; Executive functions; Psychiatric manifestation; Visuospatial functions; Williams syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DEPTH PERCEPTION; EXECUTIVE FUNCTION; FEMALE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MANAGER; MOOD DISORDER; NEUROPSYCHIATRY; PATIENT ASSESSMENT; PHENOTYPE; PHOBIA; PRIORITY JOURNAL; SELECTIVE ATTENTION; VELOCARDIOFACIAL SYNDROME; WECHSLER INTELLIGENCE SCALE; WILLIAMS BEUREN SYNDROME; CASE CONTROL STUDY; COGNITION DISORDERS; COMPARATIVE STUDY; COMPLICATION; DIGEORGE SYNDROME; GENETICS; MENTAL DISORDERS; NEUROPSYCHOLOGICAL TEST; PATHOPHYSIOLOGY; PSYCHOLOGICAL RATING SCALE; PSYCHOLOGY;

ADOLESCENT; CASE-CONTROL STUDIES; COGNITION DISORDERS; DIGEORGE SYNDROME; EXECUTIVE FUNCTION; FEMALE; HUMANS; MALE; MENTAL DISORDERS; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; PSYCHIATRIC STATUS RATING SCALES; SPACE PERCEPTION; WECHSLER SCALES; WILLIAMS SYNDROME;

EID: 84899914070     PISSN: 09249338     EISSN: 17783585     Source Type: Journal    
DOI: 10.1016/j.eurpsy.2013.07.001     Document Type: Article

References (41)

1. Alivisatos B., Petrides M. Functional activation of the human brain during mental rotation. Neuropsychologia 1996, 35:111-118.
2. Bish J.P., Ferrante S.M., McDonald-McGinn D., Zackai E., Simon T.J. Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Dev Sci 2004, 8:36-43.
3. Campbell L.E., Daly E., Toal F., Stevens A., Azuma R., Catani M., et al. Brain and behaviour in children with 22q11, 2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain 2006, 129:1218-1228.
4. Campbell L.E., Stevens A., Daly E., Toal F., Azuma R., Karmiloff-Smith A., et al. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia 2009, 47:1034-1044.
5. Campbell L.E., Daly E., Toal F., Stevens A., Azuma R., Karmiloff-Smith A., et al. Brain structural differences associated with the behavioural phenotype in children with Williams syndrome. Brain Res 2009, 1258:96-107.
6. Clarke D.J. Prader-Willi syndrome and psychoses. Br J Psychiatry 1993, 163:680-684.
7. Cohen M.S., Kosslyn S.M., Breiter H.C., DiGirolamo G.J., Thompson W.L., Anderson A.K., et al. Changes in cortical activity during mental rotation. A mapping study using functional MRI. Brain 1996, 119:89-100.
8. Diamond A., Barnett W.S., Thomas J., Munro S. Preschool program improves cognitive control. Science 2007, 318:1387.
9. Dufour F., Schaer M., Debbane M., Farhoumand R., Glaser B., Eliez S. Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q11.2 deletion syndrome. Neuropsychologia 2008, 46:2986-2992.
10. Durston S., Thomas K.M., Yang Y., Ulug A.M., Zimmerman R.D., Casey B.J. A neural basis for the development of inhibitory control. Dev Sci 2002, 5:F9-F16.
11. Dykens E.M. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol 2003, 23:291-316.
12. Farran E.K., Jarrold C., Gathercole S.E. Block design performance in the Williams syndrome phenotype: a problem with mental imagery?. J Child Psychol Psychiatry 2001, 42:719-728.
13. Goldman-Rakic P.S., Castner S.A., Svensson T.H., Siever L.J., Williams G.V. Targeting the dopamine D1 receptor in schizophrenia: insights for cognitive dysfunction. Psychopharmacology 2004, 174:3-16.
14. Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 2005, 8:1500-1502.
15. Gothelf D., Searcy Y.M., Reilly J., Lai P.T., Lanre-Amos T., Mills D., et al. Association between cerebral shape and social use of language in Williams syndrome. Am J Med Genet Part A 2008, 146:2753-2761.
16. Gothelf D., Hoeft F., Ueno T., Sugiura L., Lee A.D., Thompson P., et al. Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J Psychiatr Res 2011, 45:322-331.
17. Green T., Gothelf D., Glaser B., Debbane M., Frisch A., Kotler M., et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 2009, 48:1060-1068.
18. Harnadek M.C.S., Rourke B.P. Principal identifying features of the syndrome of non-verbal learning disabilities in children. J Learn Disabil 1994, 27:144-154.
19. Hirota H., Matsuoka R., Chen X.N., Salandanan L.S., Lincoln A., Rose F.E., et al. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med 2003, 5:311-321.
20. Hoeft F., Barnea-Goraly N., Haas B.W., Golarai G., Ng D., Mills D., et al. More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome. J Neurosci 2007, 27:11960-11965.
21. Kiley-Brabeck K., Sobin C. Social skills and executive function deficits in children with the 22q11 deletion syndrome. Appl Neuropsychol 2006, 13:258-268.
22. Leyfer O.T., Woodruff-Borden J., Klein-Tasman B.P., Fricke J.S., Mervis C.B. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet Part B 2006, 141:615-622.
23. Leyfer O.T., Woodruff-Borden J., Mervis C.B. Anxiety disorders in children with Williams syndrome, their mothers, and their siblings: Implications for the etiology of anxiety disorders. J Neurodevelopmental Disord 2009, 1:4-14.
24. Little K., Riby D.M., Janes E., Clark F., Fleck R., Rodgers J. Heterogeneity of social approach behaviour in Williams syndrome: The role of response inhibition. Res Dev Disabil 2013, 34:959-967.
25. Menon V., Adleman N.E., White C.D., Glover G.H., Reiss A.L. Error-related brain activation during a Go/NoGo response inhibition task. Hum Brain Mapp 2001, 12:131-143.
26. Meyer-Lindenberg A., Kohn P., Mervis C.B., Kippenhan J.S., Olsen R.K., Morris C.A., et al. Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron 2004, 43:623-631.
27. Meyer-Lindenberg A., Hariri A.R., Munoz K.E., Mervis C.B., Mattay V.S., Morris C.A., et al. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci 2005, 8:991-993.
28. Meyer-Lindenberg A., Mervis C.B., Berman K.F. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci 2006, 7:380-393.
29. Mobbs D., Eckert M.A., Mills D., Korenberg J., Bellugi U., Galaburda A.M., et al. Frontostriatal dysfunction during response inhibition in Williams syndrome. Biol Psychiatry 2007, 62:256-261.
30. Osborne L.R. Animal models of Williams syndrome. Am J Med Genet Part C 2010, 154:209-219.
31. Reiss A.L., Eckert M.A., Rose F.E., Karchemskiy A., Kesler S., Chang M., et al. An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome. J Neurosci 2004, 24:5009-5015.
32. Schmitt J.E., Watts K., Eliez S., Bellugi U., Galaburda A.M., Reiss A.L. Increased gyrification in Williams syndrome: evidence using 3D MRI methods. Dev Med Child Neurol 2002, 44:292-295.
33. Shprintzen R.J. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 2000, 6:142-147.
34. Simon T.J. Cognitive characteristics of children with genetic syndromes. Child Adolesc Psychiatr Clin N Am 2007, 16:599-616.
35. Simon T.J., Bearden C.E., Mc-Ginn D.M.D., Zackai E. Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex 2005, 41:145-155.
36. van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., et al. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch Gen Psychiatry 2004, 61:1085.
37. Van Duijn E., Kingma E.M., Timman R., Zitman F.G., Tibben A., Roos R.A., et al. Cross-sectional study on prevalences of psychiatric disorders in mutation carriers of Huntington's disease compared with mutation-negative first-degree relatives. J Clin Psychiatry 2008, 69:1804.
38. Vorstman J.A.S., Turetsky B.I., Sijmens-Morcus M.E.J., de Sain M.G., Dorland B., Sprong M., et al. Proline affects brain function in 22q11DS children with the low activity COMT158 allele. Neuropsychopharmacology 2008, 34:739-746.
39. Wechsler D. Wechsler Intelligence Scale for Children 1991, Sun Antonio, Tex. 3rd ed. Manual.
40. Woodin M., Wang P.P., Aleman D., McDonald-McGinn D., Zackai E., Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 2001, 3:34.
41. Young S.E., Friedman N.P., Miyake A., Willcutt E.G., Corley R.P., Haberstick B.C., et al. Behavioral disinhibition: liability for externalizing spectrum disorders and its genetic and environmental relation to response inhibition across adolescence. J Abnorm Psychol 2009, 118:117.