Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses

Willem MA Verhoeven1,2, Siegfried Tuinier1, Ineke van der Burgt31Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands; 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands; 3Department of Human Genetics, Radboud University Medical Centre, Nijmegen, T...

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Autores principales:	Willem MA Verhoeven, Siegfried Tuinier, Ineke van der Burgt
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2008
Materias:	Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/827bdc653fd24564a392802bebfb16cd
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spelling	oai:doaj.org-article:827bdc653fd24564a392802bebfb16cd2021-12-02T05:32:58ZTop-down or bottom-up: Contrasting perspectives on psychiatric diagnoses1177-54751177-5491https://doaj.org/article/827bdc653fd24564a392802bebfb16cd2008-09-01T00:00:00Zhttp://www.dovepress.com/top-down-or-bottom-up-contrasting-perspectives-on-psychiatric-diagnose-a2291https://doaj.org/toc/1177-5475https://doaj.org/toc/1177-5491Willem MA Verhoeven1,2, Siegfried Tuinier1, Ineke van der Burgt31Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands; 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands; 3Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsAbstract: Clinical psychiatry is confronted with the expanding knowledge of medical genetics. Most of the research into the genetic underpinnings of major mental disorders as described in the categorical taxonomies, however, did reveal linkage with a variety of chromosomes. This heterogeneity of results is most probably due to the assumption that the nosological categories as used in these studies are disease entities with clear boundaries. If the reverse way of looking, the so-called bottom-up approach, is applied, it becomes clear that genetic abnormalities are in most cases not associated with a single psychiatric disorder but with a certain probability to develop a variety of aspecific psychiatric symptoms. The adequacy of the categorical taxonomy, the so-called top-down approach, seems to be inversely related to the amount of empirical etiological data. This is illustrated by four rather prevalent genetic syndromes, fragile X syndrome, Prader-Willi syndrome, 22q11 deletion syndrome, and Noonan syndrome, as well as by some cases with rare chromosomal abnormalities. From these examples, it becomes clear that psychotic symptoms as well as mood, anxiety, and autistic features can be found in a great variety of different genetic syndromes. A psychiatric phenotype exists, but comprises, apart from the chance to present several psychiatric symptoms, all elements from developmental, neurocognitive, and physical characteristics.Keywords: genetic disorders, psychiatric symptoms, phenotype, mental disorders Willem MA VerhoevenSiegfried TuinierIneke van der BurgtDove Medical PressarticleMedicine (General)R5-920ENBiologics: Targets & Therapy, Vol 2008, Iss Issue 3, Pp 409-417 (2008)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine (General) R5-920
spellingShingle	Medicine (General) R5-920 Willem MA Verhoeven Siegfried Tuinier Ineke van der Burgt Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
description	Willem MA Verhoeven1,2, Siegfried Tuinier1, Ineke van der Burgt31Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands; 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands; 3Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsAbstract: Clinical psychiatry is confronted with the expanding knowledge of medical genetics. Most of the research into the genetic underpinnings of major mental disorders as described in the categorical taxonomies, however, did reveal linkage with a variety of chromosomes. This heterogeneity of results is most probably due to the assumption that the nosological categories as used in these studies are disease entities with clear boundaries. If the reverse way of looking, the so-called bottom-up approach, is applied, it becomes clear that genetic abnormalities are in most cases not associated with a single psychiatric disorder but with a certain probability to develop a variety of aspecific psychiatric symptoms. The adequacy of the categorical taxonomy, the so-called top-down approach, seems to be inversely related to the amount of empirical etiological data. This is illustrated by four rather prevalent genetic syndromes, fragile X syndrome, Prader-Willi syndrome, 22q11 deletion syndrome, and Noonan syndrome, as well as by some cases with rare chromosomal abnormalities. From these examples, it becomes clear that psychotic symptoms as well as mood, anxiety, and autistic features can be found in a great variety of different genetic syndromes. A psychiatric phenotype exists, but comprises, apart from the chance to present several psychiatric symptoms, all elements from developmental, neurocognitive, and physical characteristics.Keywords: genetic disorders, psychiatric symptoms, phenotype, mental disorders
format	article
author	Willem MA Verhoeven Siegfried Tuinier Ineke van der Burgt
author_facet	Willem MA Verhoeven Siegfried Tuinier Ineke van der Burgt
author_sort	Willem MA Verhoeven
title	Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
title_short	Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
title_full	Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
title_fullStr	Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
title_full_unstemmed	Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
title_sort	top-down or bottom-up: contrasting perspectives on psychiatric diagnoses
publisher	Dove Medical Press
publishDate	2008
url	https://doaj.org/article/827bdc653fd24564a392802bebfb16cd
work_keys_str_mv	AT willemmaverhoeven topdownorbottomupcontrastingperspectivesonpsychiatricdiagnoses AT siegfriedtuinier topdownorbottomupcontrastingperspectivesonpsychiatricdiagnoses AT inekevanderburgt topdownorbottomupcontrastingperspectivesonpsychiatricdiagnoses
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Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses

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