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Psychopathologie en Pathogenese van enkele behavioural phenotypes

Published online by Cambridge University Press:  18 September 2015

W.M.A. Verhoeven*
Respectievelijk als zenuwarts/A-opleider en psychiater verbonden aan het Vincent van, Gogh Instituut te Venray
S. Tuinier
Respectievelijk als zenuwarts/A-opleider en psychiater verbonden aan het Vincent van, Gogh Instituut te Venray
L.M.G. Curfs
Als psycholoog werkzaam bij de Stichting Klinische Genetica te Maastricht
zenuwarts, Vincent van Gogh Instituut voor Psychiatrie, Stationsweg 46, 5803 AC Venray


Description of psychopathological symptoms in mentally retarded subjects is of great heuristic value because of the association with a known genetic disorder as well as the heterogenous and atypical phenomenology. The concept of behavioural phenotypes postulates a specific relationship between gene defect and behaviour, although considerable overlap between syndromes and differences within syndromes concerning behavioural manifestations are frequently observed. Since syndrome specific psychiatric disorders can be established too, the term psychopathological phenotype seems to be appropriate.

Research Article
Copyright © Scandinavian College of Neuropsychopharmacology 1998

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1. Nyhan, WL. Behavioural phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research. Pediatr Res 1972; 6: 19.10.1203/00006450-197201000-00001Google Scholar
2. Flint, J. Behavioural phenotypes: Conceptual and Methodological Issues. Am J Med Genet (Neuropsychiatrie Genetics) 1998; 81: 235–40.10.1002/(SICI)1096-8628(19980508)81:3<235::AID-AJMG6>3.0.CO;2-VGoogle Scholar
3. Finegan, JA. Study of behavioural phenotypes: Goals and methodological considerations. Am J Med Genet (Neuropsychiatrie Genetics) 1998; 81: 148–55.10.1002/(SICI)1096-8628(19980328)81:2<148::AID-AJMG5>3.0.CO;2-SGoogle Scholar
4. Duncan, AG. Mental deficiency and manic-depressive insanity. J Ment Sciences 1936; 82: 635–47.10.1192/bjp.82.340.635Google Scholar
5. Verhoeven, WMA, Tuinier, S. The psychopharmacology of challenging behaviours in developmental disabilities. In: Bouras, N. (Ed.) Psychiatric and behavioural disorders in mental retardation. Cambridge, Cambridge Univ Press, 1998; in press.Google Scholar
6. Maes, B. Het psychosociaal functioneren van volwassen mentaal gehandicapte mannen met het fragiele-X-syndroom. Leuven, Proefschrift, Katholieke Universiteit, 1993.Google Scholar
7. Freund, LS, Reiss, AL, Abrams, MT. Psychiatric disorders associated with fragile-X in the young female. Pediatrics 1993; 91: 321–9.CrossRefGoogle ScholarPubMed
8. Dykens, EM, Cassidy, SB. Prader-Willi Syndrome. Genetic, behavioural, and treatment issues. Child Adolesc Psychiatr Clin N Am 1996;5:913–27.10.1016/S1056-4993(18)30340-7Google Scholar
9. ICD-10. Lisse, S wets & Zeitlinger 1994.Google Scholar
10. Clarke, DJ. Prader-Willi syndrome and psychoses. Br J Psychiat, 1993; 163: 680–4.10.1192/bjp.163.5.680CrossRefGoogle ScholarPubMed
11. Verhoeven, WMA, Curfs, LMG, Tuinier, S. Prader-Willi syndrome and cycloid psychoses. J Intellect Disabil Res 1998; 42: in press.Google Scholar
12. Udwin, O, Davis, M, Howlin, P. A longitudinal study of cognitive abilities and educational attainment in Williams syndrome. Dev Med Child Neurol 1996; 38: 1020–9.10.1111/j.1469-8749.1996.tb15062.xGoogle Scholar
13. Davies, M, Udwin, O, Howlin, P. Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties. Br J Psychiat 1998; 172: 273–6.10.1192/bjp.172.3.273Google Scholar
14. Swift, RG, Perkins, DO, Chase, CL, Sadler, DB, Swift, M. Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiat 1991; 148: 775–9.Google Scholar
15. DeVriendt, K, Swillen, A, Fryns, JP. Het velo-cardio-faciaal syndroom: Een frequente genetische aandoening veroorzaakt door microdeleties in chromosoom 22q11. Tijdschr Geneeskd 1996; 52:511–21.Google Scholar
16. Swillen, A, DeVriendt, K, Legius, E, Eyskens, B, Dumoulin, M, Gewillig, M, Fryns, JP. Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS. J Med Genet 1997; 34: 453–8.10.1136/jmg.34.6.453Google Scholar
17. Shprintzen, RJ, Goldberg, R, Golding-Kushner, KJ, Marion, RW. Late-onset psychosis in the velo-carcio-facial syndrome. Am J Med Genet 1992; 42: 141–2.10.1002/ajmg.1320420131Google Scholar
18. Chow, LY, Waye, MMY, Garcia-Barcelo, M, Chiu, HFK, Fung, KP, Lee, CY. Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. J Intel Disabil Res 1998; 42: 184–8.10.1046/j.1365-2788.1998.00109.xGoogle Scholar
19. Paris, J. The etiology of borderline personality disorder: A biopsy-chological approach. Psychiatry 1994; 57: 316–25.10.1080/00332747.1994.11024696Google Scholar
20. Plomin, R, Own, MJ, McGuffin, P. The genetic basis of complex human behaviours. Science 1994; 264: 1733–9.10.1126/science.8209254Google Scholar
21. Dykens, EM. Measuring behavioural phenotypes: Provocations from the ‘New Genetics’. Am J Ment Retard 1995; 99: 522–32.Google ScholarPubMed
22. Gordon, N. Some influences on cognition in early life: A short review of recent opinions. Eur J Paediatr Neurol 1998; 1: 15.10.1016/1090-3798(98)01000-1Google Scholar