Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology

Research in Developmental Disabilities

Volumn 34, Issue 1, 2013, Pages 116-125

  Sinderberry, Brooke ^b   Brown, Scott ^a   Hammond, Peter ^c   Stevens, Angela F ^f   Schall, Ulrich ^b,d,e   Murphy, Declan G M ^f   Murphy, Kieran C ^g   Campbell, Linda E ^a,d,e  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b UNIVERSITY OF NEWCASTLE   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HUNTER MEDICAL RESEARCH INSTITUTE   (Australia)

^e Schizophrenia Research Institute   (Australia)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

Author keywords

22q11.2 deletion syndrome (22q11DS); Behavioural phenotype; Cluster analysis; DiGeorge syndrome; K Means; Subtype; Velo cardio facial syndrome (VCFS)

Indexed keywords

ACADEMIC ACHIEVEMENT; ACCURACY; ARTICLE; AUTISM; BEHAVIOR CHANGE; BRAIN SIZE; CHILD; CHILD BEHAVIOR; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CRANIOFACIAL MORPHOLOGY; DISEASE ASSOCIATION; DISEASE SEVERITY; EXECUTIVE FUNCTION; FACE PROFILE; FEMALE; GRAY MATTER; HIGH RISK PATIENT; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MEMORY DISORDER; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; RISK FACTOR; SCHOOL CHILD; SYNDROME DELINEATION; VERBAL MEMORY;

ADOLESCENT; BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; CLUSTER ANALYSIS; COHORT STUDIES; DIGEORGE SYNDROME; EXECUTIVE FUNCTION; FACE; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MENTAL DISORDERS; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; PREVALENCE; RISK FACTORS; SOCIAL BEHAVIOR;

EID: 84865452469     PISSN: 08914222     EISSN: 18733379     Source Type: Journal    
DOI: 10.1016/j.ridd.2012.07.025     Document Type: Article

References (72)

1. Antshel K.M., Fremont W., Kates W.R. The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective. Developmentak Disabilities Research Reviews 2008, 14:43-51.
2. Antshel K.M., Shprintzen R., Fremont W., Higgins A.M., Faraone S.V., Kates W.R. Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: A 3-year follow-up study. Journal of the American Academy of Child & Adolescent Psychiatry 2010, 49(4):333-344.
3. Azuma R., Daly E., Campbell L., Stevens A., Deeley Q., Giampietro V., et al. Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study. Journal of Neurodevelopmental Disorders 2009, 1:46-60.
4. Baron-Cohen S., Belmonte M. Autism: A window onto the development of the social and the analytic brain. Annual Review of Neuroscience 2005, 28:109-126.
5. Barta P., Dhingra L., Royall R., Schwartz E. Improving stereological estimates for the volume of structures identified in three-dimensional arrays of spatial data. Journal of Neuroscience Methods 1997, 75(2):111-118.
6. Bartko J., Carpenter W. On the methods and theory of reliability. Journal of Nervous and Mental Disease 1976, 163(5):307-317.
7. Boddaert N., Chabane N., Gervais H., Good C.D., Bourgeois M., Plumet M.H., et al. Superior temporal sulcus anatomical abnormalities in childhood autism: A voxel-based morphometry MRI study. NeuroImage 2004, 23(1):364-369.
8. Campbell L. Brain, behaviour and cognition in 22q11.2 deletion syndrome (22qDS) 2006, University of London, King's College London, London.
9. Campbell L., Azuma R., Ambery F., Stevens A., Smith A., Morris R., et al. Executive functions and memory abilities in children with 22q11.2 deletion syndrome. Australian and New Zealand Journal of Psychiatry 2010, 44:364-371.
10. Campbell L., 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(5):1218-1228.
11. Campbell L., 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(4):1034-1044.
12. Campbell L., Stevens A., McCabe K., Cruickshank L., Morris R., Murphy D., et al. Is mentalising and face processing related to social competence in 22q11DS?. Journal of Neurodevelopmental Disorders 2011, 3(2):152-161.
13. Chow E., Robert B., Zipursky R., Mikulis D., Bassett A. Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biological Psychiatry 2002, 51:208-215.
14. David A., Malmberg A., Brandt L., Allebeck P., Lewis G. IQ and risk for schizophrenia: A population-based cohort study. Psychological Medicine 1997, 27:1311-1323.
15. De Smedt B., Devriendt K., Fryns J., Vogels A., Gewillig M., Swillen A. Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: An update. Journal of Intellectual Disability Research 2007, 51(Pt 9):666L 670.
16. De Smedt B., Swillen A., Devriendt K., Fryns J.P., Verschaffel L., Ghesquière P. Mathematical disabilities in children with velo-cardio-facial syndrome. Neuropsychologia 2007, 45(5):885-895.
17. Debbane M., Glaser B., David M., Feinstein C., Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Schizophrenia Research 2006, 84:187-193.
18. Devriendt K., Moerman P., Van Schoubroeck D. Chromosome 22q11 deletion presenting as the Potter sequence. Journal of Medical Genetics 1997, 34(5):423-425.
19. Driscoll D.A., Spinner N.B., Budarf M.L., McDonald-McGinn D.M., Zackai E.H., Goldberg R.B., et al. Deletions and microdeletions of 22q11 in velo-cardio-facial syndrome. American Journal of Medical Genetics 1992, 44(2):261-268.
20. Duda R., Hart P., Stork D. Pattern classification 2001, Wiley Interscience. 2nd ed.
21. Eliez S., Blasey C.M., Schmitt E.J., White C.D., Hu D., Reiss A.L. Velocardiofacial syndrome: Are structural changes in the temporal and mesial temporal regions related to schizophrenia. Biological Psychiatry 2001, 158(3):447-453.
22. Eliez S., Schmitt J., White C., Reiss A. Children and adolescents with velo-cardio-facial syndrome: A volumetric MRI study. American Journal of Psychiatry 2000, 157(3):409-415.
23. Fine S., Weissman A., Gerdes M., Pinto-Martin J., Zackai E., McDonald-McGinn D., et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. Journal of Autism and Developmental Disorders 2005, 35(4):461-470.
24. Gerdes M., Solot C., Wang P., McDonald-McGinn D., Zackai E. Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion. Genetics in Medicine 2001, 3(1):40-44.
25. Glaser B., Schaer M., Berney S., Debbane M., Vuilleumier P., Eliez S. Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome?. Schizophrenia Research 2007, 96(1-3):82-86.
26. 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. Nature Neuroscience 2005, 8(11):1500-1502.
27. Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van Stone E., et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. American Journal of Psychiatry 2007, 164(4):663-669.
28. 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. Journal of Psychiatric Research 2010, 45(3):322-331.
29. Gothelf D., Penniman L., Gu E., Reiss A., Eliez S. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: A longitudinal study. Schizophrenia Research 2007, 96:72-81.
30. Gothelf D., Presburger G., Zohar A., Burg M., Nahmani A., Frydman M., et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004, 126B(1):99-105.
31. Gothelf D., Schaer M., Eliez S. Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews 2008, 14(1):59-68.
32. Green T.M.D., Gothelf D.M.D., Glaser B.P.D., Debbane M.P.D., Frisch A.P.D., Kotler M.M.D., et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child & Adolescent Psychiatry 2009, 48(11):1060-1068.
33. Hammond P., Hutton T., Allanson J., Buxton B., Campbell L., Clayton-Smith J., et al. Discriminating power of localized three-dimensional facial morphology. American Journal of Human Genetics 2005, 77(6):999-1010.
34. Hammond P., Hutton T., Allanson J., Campbell L., Hennekam R., Holden S., et al. 3D analysis of facial morphology. American Journal of Medical Genetics 2004, 126A(4):339-348.
35. Hartigan J., Wong M. A k-means clustering algorithm. Applied Statistics 1979, 28:100-108.
36. Kates W., Burnette C., Bessette B., Folley B., Strunge L., Jabs E., et al. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). Journal of Child Neurology 2004, 19(5):337-342.
37. Kates W., Burnette C., Jabs E., Rutberg J., Murphy A., Grados M., et al. Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis. Biological Psychiatry 2001, 49(8):677-684.
38. Kates W.R., Antshel K.M., Faraone S.V., Fremont W.P., Higgins A.M., Shprintzen R.J., et al. Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): A longitudinal study. Biological Psychiatry 2011, 69(10):945-952.
39. Kates W.R., Bansal R., Fremont W., Antshel K.M., Hao X., Higgins A.M., et al. Mapping cortical morphology in youth with velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child & Adolescent Psychiatry 2011, 50(3):272-282.
40. Kemp C., Tenenbaum J.B. The discovery of structural form. Proceedings of the National Academy of Sciences 2008, 105(31):10687-10692.
41. Leana-Cox J., Pangkanon S., Supovitz K., Curtin M., Wulfsberg E. Phenotypic variability associated with del(22)(q11.2): A report of five familial cases. American Journal of Human Genetics 1995, 57:A95.
42. Maitra, R., Peterson, A., & Ghosh, A. A systematic evaluation of different methods for initializing the K-means clustering algorithm. IEEE Transactions on Knowledge and Data Engineering, in press.
43. McAlonan G.M., Cheung V., Cheung C., Suckling J., Lam G.Y., Tai K.S., et al. Mapping the brain in autism. A voxel-based MRI study of volumetric differences and intercorrelations in autism. Brain 2005, 128(2):268-276.
44. McLean S., Saal H., Spinner N., Emanuel B., Driscoll D. Velo-cardio-facial syndrome: Intrafamilial variability of the phenotype. American Journal of Diseases of Children 1993, 147(11):1212-1216.
45. Moss E.M., Batshaw M.L., Solot C.B., Gerdes M., McDonald-McGinn D., Driscoll D.A., et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. The Journal of Pediatrics 1999, 134:193-198.
46. Murphy K. The behavioural phenotype in velo-cardio-facial syndrome. Journal of Intellectual Disability Research 2004, 48(6):524-530.
47. Murphy K., Jones L., Owen M. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry 1999, 56(10):940-945.
48. Murphy K., Owen M. Velo-cardio-facial syndrome: A model for understanding the genetics and pathogenesis of schizophrenia. British Journal of Psychiatry 2001, 179:397-402.
49. Niklasson L., Rasmussen P., Oskarsdottir S., Gillberg C. Neuropsychiatric disorders in the 22q11 deletion syndrome. Genetics in Medicine 2001, 3(1):79-84.
50. Niklasson L., Rasmussen P., Oskarsdottir S., Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities 2008.
51. óskarsdóttir S., Vujic M., Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Archives of Disease in Childhood 2004, 89(2):148-151.
52. Pantelis C., Velakoulis D., McGorry P., Wood S., Suckling J., Phillips L.J., et al. Neuroanatomical abnormalities before and after onset of psychosis: A cross-sectional and longitudinal MRI comparison. Lancet 2003, 361(9354):281-288.
53. Raznahan A., Toro R., Daly E., Robertson D., Murphy C., Deeley Q., et al. Cortical anatomy in autism spectrum disorder: An in vivo MRI study on the effect of age. Cerebral Cortex 2010, 20(6):1332-1340.
54. Scambler P.J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992, 339(8802):1138-1139.
55. Schaer M., Debbané M., Bach Cuadra M., Ottet M.-C., Glaser B., Thiran J.-P., et al. Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study. Schizophrenia Research 2009, 115(2-3):182-190.
56. Schultz R. Developmental deficits in social perception in autism: The role of the amygdala and fusiform face area. International Journal of Developmental Neuroscience 2005, 23.
57. Shprintzen R. Velo-cardio-facial syndrome. Progress in Pediatric Cardiology 2005, 20:187-193.
58. Simon T., Bearden C., McDonald-McGinn D., Zackai E. Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex 2005, 41:131-141.
59. Singh S., Murphy B., O'Reilly R. Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: Updates with an epigenetic hypothesis. Journal of Medical Genetics 2002, 39:71.
60. Sporn A.L., Addington A.M., Gogtay N., Ordoñez A.E., Gornick M., Clasen L., et al. Pervasive developmental disorder and childhood-onset schizophrenia: Comorbid disorder or a phenotypic variant of a very early onset illness?. Biological Psychiatry 2004, 55(10):989-994.
61. Sundram F., Campbell L., Azuma R., Daly E., Bluemen O., Barker G., et al. White matter microstructure in 22q11 deletion syndrome: A pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents. Journal of Neurodevelopmental Disorders 2010, 2(2):77-92.
62. Swillen, A. (2001). The behavioural phenotype in velo-cardio-facial syndrome: From infancy to adolescence. Unpublished Doctoral thesis, University of Leuven, Leuven: Acco Leuven.
63. Takahashi T., Suzuki M., Zhou S., Tanino R., Nakamura K., Kawasaki Y., et al. A follow-up MRI study of the superior temporal subregions in schizotypal disorder and first-episode schizophrenia. Schizophrenia Research 2010, 119(1-3):65-74.
64. Takahashi T., Wood S., Yung A., Soulsby B., McGorry P., Suzuki M., et al. Progressive gray matter reduction of the superior temporal gyrus during transition to psychosis. Archives General Psychiatry 2009, 66(4):366.
65. Tan G.M., Arnone D., McIntosh A.M., Ebmeier K.P. Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophrenia Research 2009, 115(2-3):173-181.
66. Toal F., Daly E., Page L., Deeley Q., Hallahan B., Bloemen O., et al. Clinical and anatomical heterogeneity in autistic spectrum disorder: A structural MRI study. Psychological Medicine 2010, 40(7):1171-1181.
67. van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., et al. Brain anatomy in adults with velo-cardio-facial syndrome with and without schizophrenia: Preliminary results of a structural magnetic resonance imaging study. Archives of General Psychiatry 2004, 61(11):1085-1096.
68. van Amelsvoort T., Daly E., Robertson D., Suckling J., Ng V., Critchley H., et al. Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velo-cardio-facial syndrome. British Journal of Psychiatry 2001, 178:412-419.
69. Vorstman J., Morcus M., Duijff S., Klaassen P., Heineman-de Boer J., Beemer F., et al. The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. Journal of the American Academy of Child and Adolescent Psychiatry 2006, 45(9):1104-1113.
70. Witthaus H., Kaufmann C., Bohner G., Ozgürdal S., Gudlowski Y., Gallinat J., et al. Gray matter abnormalities in subjects at ultra-high risk for schizophrenia and first-episode schizophrenic patients compared to healthy controls. Psychiatry Research 2009, 173(3):163-169.
71. Woodin M., Wang P., Aleman D., McDonald-McGinn D., Zackai E., Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics in Medicine 2001, 3(1):34-39.
72. Wraith J.E., Super M., Watson G.H., Phillips M. Velo-cardio-facial syndrome presenting as holopresencephaly. Clinical Genetics 1985, 27(4):408-410.