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Importance of psychiatric examination in predictive genetic testing for Huntington disease
- Department of Psychiatry and Psychotherapy, Medical University of Silesia, Katowice, Poland
- Department of Neurology and Centre of Clinical Neuroscience, Charles University, Prague, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
- Institute of Biology and Medical Genetics, Charles University in Prague, First Faculty of Medicine and General University Hospital, Prague, Czech Republic
- Department of Medical Psychology, Medical University of Lodz, Poland
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Abstract
Huntington disease (HD) is an autosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromosome 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiatric disorders. The diagnosis of HD is confirmed by a genetic test, which may also be carried out presymptomatically.
Material and methodsWe studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA).
ResultsPeople at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called ‘positive symptom distress index’ in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue.
ConclusionsOur results indicate that the formalized testing does not bring significant information whereas the clinical psychiatrie examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making proces.
Abstract
Huntington disease (HD) is an autosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromosome 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiatric disorders. The diagnosis of HD is confirmed by a genetic test, which may also be carried out presymptomatically.
Material and methodsWe studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA).
ResultsPeople at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called ‘positive symptom distress index’ in SCL-90 and lower quality of life than people at risk of HD with the recommendation to continue.
ConclusionsOur results indicate that the formalized testing does not bring significant information whereas the clinical psychiatrie examination remains the main decisive factor in the recommendation to perform a predictive genetic test. The motivation of applicants is considered as the most important factor in the decision-making proces.
Keywords
Huntington disease, predictive genetic test, people at risk
Title
Importance of psychiatric examination in predictive genetic testing for Huntington disease
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
534-541
Page views
267
Article views/downloads
342
DOI
10.5114/ninp.2013.39070
Bibliographic record
Neurol Neurochir Pol 2013;47(6):534-541.
Keywords
Huntington disease
predictive genetic test
people at risk
Authors
Tereza Uhrová
Jana Židovská
Jana Koblihová
Jiří Klempíř
Veronika Majerová
Jan Roth