The velo-cardio-facial syndrome: The spectrum of psychiatric problems and cognitive deterioration at adult age

Genetic Counseling

Volumn 20, Issue 4, 2009, Pages 307-315

  Evers, L J M ^a,b   De Die Smulders, C E M ^c   Smeets, E E J ^c   Clerkx, M G M ^d   Curfs, L M G ^b,c  

^a Multi Disciplinary Centre for Dual Disabilities   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Wier Altrecht Mental Health Care ^*  (Netherlands)

Author keywords

Cognitive deterioration; Deletion 22q11.2; Intellectual disability; VCFS

Indexed keywords

HALOPERIDOL; NEUROLEPTIC AGENT; OLANZAPINE; QUETIAPINE; RISPERIDONE;

ADULT; AGGRESSION; ARTICLE; CHROMOSOME 22Q; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HALLUCINATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; MALE; MENTAL DETERIORATION; MENTAL DISEASE; MENTAL INSTABILITY; PARANOIA; PARANOID PSYCHOSIS; PSYCHOSIS; PSYCHOSOCIAL WITHDRAWAL; RESIDENTIAL CARE; VELOCARDIOFACIAL SYNDROME;

ADULT; AUTISTIC DISORDER; DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS; DEMENTIA; DIGEORGE SYNDROME; DISEASE PROGRESSION; FEMALE; HUMANS; INTELLIGENCE; MALE; MENTAL RETARDATION; MIDDLE AGED; NETHERLANDS; PSYCHOTIC DISORDERS; SCHIZOPHRENIA;

EID: 76049084875     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. AMERICAN PSYCHIATRIC ASSOCIATION: Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR). Washington (DC), American Psychiatric Association. 2004.
2. ANEJA A., FREMONT W.P., ANTSHEL K.M., FARAONE S.V., ABDULSABUR N., HIGGINS A.M., SHPRINTZEN R., KATES W.R.: Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). J. Child. Adolesc. Psychopharmacol., 2007, 17, 105-114.
3. BASSETT A.S., CHOW E.W., HUSTED J., WEKSBERG R., CALUSERIU O., WEBB G.D., GATZOULIS M.A.: Clinical features of 78 adults with 22q11 Deletion Syndrome. Am. J. Med. Genet. A, 2005, 138, 307-313.
4. DEVRIENDT K., FRYNS J.P., MORTIER G., VAN THIENEN M.N., KEYMOLEN K.: The annual incidence of DiGeorge/velocardiofacial syndrome. J. Med. Genet. 1998, 35, 789-790.
5. DEVRIENDT K., THIENEN M.N., SWILLEN A., FRYNS J.P.: Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. Dev. Med. Child. Neurol., 1996, 38, 949-953.
6. EVENHUIS H.M.: Evaluation of a screening instrument for dementia in ageing mentally retarded persons. J. Intellect. Disabil Res., 1992, 36 (Pt 4), 337-347.
7. EVERS L.J.M., VERMAAK M.P., ENGELEN J.J., CURFS L.M.: The velocardiofacial syndrome in older age: dementia and autistic features. Genet. Couns., 2006, 17, 333-340.
8. FINE S.E., WEISSMAN A., GERDES M, PINTO MARTIN J., ZACKAI E.H., MCDONALD-MCGINN, D. M., EMANUEL, B. S.: Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J. Autism Dev. Disord., 2005, 35, 461-470.
9. GOLDBERG R., MOTZKIN B., MARION R., SCAMBLER P.J., SHPRINTZEN R.J.: Velo-cardiofacial syndrome: a review of 120 patients. Am. J. Med. Genet., 1993, 45, 313-319.
10. GOLDING-KUSHNER K.J., WELLER G., SHPRINTZEN R.J.: Velo-cardio-facial syndrome: language and psychological profiles. J. Craniofac. Genet. Dev. Biol., 1985, 5, 259-266.
11. GOTHELF D., ELIEZ S., THOMPSON T., HINARD C., PENNIMAN L., FEINSTEIN C., KWON H., JIN S., JO B., ANTONARAKIS S.E., MORRIS M.A., REISS A. L.: COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat. Neurosci., 2005, 8, 1500-1502.
12. IASCONE M.R., VITTORINI S., SACCHELLI M., SPADONI L., SIMI P., GIUSTI S.: Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission. Am. J. Med. Genet., 2002, 108, 319-321.
13. JANSEN P.W., DUIJFF S.N., BEEMER F.A., VORSTMAN J.A., KLAASSEN P.W., MORCUS, M.E., HEINEMAN DE BOER, J.A.: Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. Am. J. Med. Genet. A, 2007, 143, 574-580.
14. KLIN A., MAYES L.C., VOLKMAR F.R., COHEN D.J.: Multiplex developmental disorder. J. Dev. Behav. Pediatr., 1995, 16, S7-S11.
15. KOZMA C.: On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism. Am. J. Med. Genet., 1998, 81, 269-270.
16. LICHTER P., TANG C.J., CALL K., HERMANSON G., EVANS G.A., HOUSMAN D., WARD D.C.: High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science, 1990, 247, 64-69.
17. MCDONALD MCGINN D.M., KIRSCHNER R., GOLDMUNTZ E., SULLIVAN K., EICHER P., GERDES M., MOSS E., SOLOT C., WANG P., JACOBS I., HANDLER S., KNIGHTLY C., HEHER K., WILSON M., ING J. E., GRACE K., DRISCOLL D., PASQUARIELLO P., RANDALL P.,, LAROSSA D., EMANUEL B. S., ZACKAI E. H.: The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet. Couns., 1999, 10, 11-24.
18. MULDER M.P., WILKE M, UNGEVELD A., WILMING L.G., HAGEMEIJER A., VAN DRUNEN E., ZWARTHOF E. C., RIEGMAN P. H., DEELEN W.H., VAN DEN OUWELAND A.M.: Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Hum. Genet., 1995, 96, 133-141.
19. MURPHY K.C.: The behavioural phenotype in velocardio-facial syndrome. J Intellect. Disabil. Res., 2004, 48, 524-530.
20. MURPHY K.C., JONES L.A., OWEN M.J.: High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry., 1999, 56, 940-945.
21. MURPHY K.C., OWEN M.J.: Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br. J. Psychiatry, 2001, 179, 397-402.
22. NIKLASSON L., RASMUSSEN P., OSKARSDOTTIR S., GILLBERG C.: Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet. Med., 2001, 3, 79-84.
23. NIKUSSON L., RASMUSSEN P., OSKARSDOTTIR S., GILLBERG C.: Attention deficits in children with 22q.11 deletion syndrome. Dev. Med. Child. Neurol., 2005, 47, 803-807.
24. PAPOLOS D.F., FAEDDA G.L., VEITS., GOLDBERG R., MORROW B., KUCHERLAPATI R., SHPRINTZEN R. J.: Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am. J. Psychiatry, 1996, 153, 1541-1547.
25. PULVER A.E., NESTADT G., GOLDBERG R., SHPRINTZEN R.J., LAMACZ M., WOLYNIEC P.S., MORROW B., KARAYIORGOU M., ANTONARAKIS S.E., HOUSMAN D.: Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J. Nerv. Ment. Dis., 1994, 182, 476-478.
26. RUSSELL A.J., MUNRO J.C., JONES P.B., HEMSLEY D.R., MURRAY R.M.: Schizophrenia and the myth of intellectual decline. Am. J. Psychiatry, 1997, 154, 635-639.
27. SHPRINTZEN R.J.: Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment. Retard. Dev. Disabil. Res. Rev., 2000, 6, 142-147.
28. STACHON A.C., BASKIN B., SMITH A.C., SHUGAR A., CYTRYNBAUM C., FISHMAN L., MENDOZA-LONDONO R., KLATT R., TEEBI A., RAY P.N., WEKSBERG R.: Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am. J. Med. Genet. A, 2007, 143A, 2924-2930.
29. SWILLEN A., DEVRIENDT K., LEGIUS E., EYSKENS B., DUMOULIN M., GEWILLIG M., FRYNS J. P.: Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J. Med. Genet., 1997, 34, 453-458.
30. SWILLEN A., DEVRIENDT K., LEGIUSE., PRINZIE P., VOGELS A., GHESQUIERE P., FRYNS J.P.: The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet. Couns., 1999, 10, 79-88.
31. VORSTMAN J.A., MORCUS M.E., DUIJFF S.N., KLAASSEN P.W., HEINEMAN DE BOER J.A., BEEMER F.A., SWAAB H., KAHN R.S., VAN ENGELAND H.: The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J. Am. Acad. Child. Adolesc. Psychiatry, 2006,45, 1104-1113.