Laura L Kilarski, Isabelle Claus, Elisabeth B Binder, Franziska Degenhardt, Katharina Domschke, Andreas J Forstner, Hans J Grabe, Urs Heilbronner, Daniel Müller, Markus M Nöthen, Franziska Radtke, Marcella Rietschel, Thomas G Schulze, Fabian Streit, Ludger Tebartz van Elst, Oliver Tüscher, Jürgen Deckert, Eva C Schulte
{"title":"[成年期精神疾病的基因诊断]。","authors":"Laura L Kilarski, Isabelle Claus, Elisabeth B Binder, Franziska Degenhardt, Katharina Domschke, Andreas J Forstner, Hans J Grabe, Urs Heilbronner, Daniel Müller, Markus M Nöthen, Franziska Radtke, Marcella Rietschel, Thomas G Schulze, Fabian Streit, Ludger Tebartz van Elst, Oliver Tüscher, Jürgen Deckert, Eva C Schulte","doi":"10.1007/s00115-024-01737-y","DOIUrl":null,"url":null,"abstract":"<p><p>This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy. The review discusses when genetic diagnostics are recommended according to current guidelines as well as situations where they might be considered even in the absence of explicit guideline recommendations. This is followed by an overview of the procedures and the currently used diagnostic methods. Current limitations and possible developments in the field of genetic diagnostics in psychiatry are discussed, including the fact that, for many mental health conditions, genetic testing is not yet part of standard clinical practice; however, in summary genetic causes should be considered more frequently in certain clinical constellations, and genetic diagnostics and counselling should be offered where appropriate.</p>","PeriodicalId":49770,"journal":{"name":"Nervenarzt","volume":" ","pages":""},"PeriodicalIF":0.9000,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Genetic diagnostics of mental health disorders in adulthood].\",\"authors\":\"Laura L Kilarski, Isabelle Claus, Elisabeth B Binder, Franziska Degenhardt, Katharina Domschke, Andreas J Forstner, Hans J Grabe, Urs Heilbronner, Daniel Müller, Markus M Nöthen, Franziska Radtke, Marcella Rietschel, Thomas G Schulze, Fabian Streit, Ludger Tebartz van Elst, Oliver Tüscher, Jürgen Deckert, Eva C Schulte\",\"doi\":\"10.1007/s00115-024-01737-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy. The review discusses when genetic diagnostics are recommended according to current guidelines as well as situations where they might be considered even in the absence of explicit guideline recommendations. This is followed by an overview of the procedures and the currently used diagnostic methods. Current limitations and possible developments in the field of genetic diagnostics in psychiatry are discussed, including the fact that, for many mental health conditions, genetic testing is not yet part of standard clinical practice; however, in summary genetic causes should be considered more frequently in certain clinical constellations, and genetic diagnostics and counselling should be offered where appropriate.</p>\",\"PeriodicalId\":49770,\"journal\":{\"name\":\"Nervenarzt\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-09-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nervenarzt\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00115-024-01737-y\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nervenarzt","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00115-024-01737-y","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
[Genetic diagnostics of mental health disorders in adulthood].
This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy. The review discusses when genetic diagnostics are recommended according to current guidelines as well as situations where they might be considered even in the absence of explicit guideline recommendations. This is followed by an overview of the procedures and the currently used diagnostic methods. Current limitations and possible developments in the field of genetic diagnostics in psychiatry are discussed, including the fact that, for many mental health conditions, genetic testing is not yet part of standard clinical practice; however, in summary genetic causes should be considered more frequently in certain clinical constellations, and genetic diagnostics and counselling should be offered where appropriate.
期刊介绍:
Der Nervenarzt is an internationally recognized journal addressing neurologists and psychiatrists working in clinical or practical environments. Essential findings and current information from neurology, psychiatry as well as neuropathology, neurosurgery up to psychotherapy are presented.
Review articles provide an overview on selected topics and offer the reader a summary of current findings from all fields of neurology and psychiatry.
Freely submitted original papers allow the presentation of important clinical studies and serve the scientific exchange.
Review articles under the rubric ''Continuing Medical Education'' present verified results of scientific research and their integration into daily practice.