Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective

• Published in: Clinical genetics 2011-09, Vol.80 (3), p.235-239
• Main Authors: Ho, AK, Hocaoglu, MB
• Format: Article
• Language: English
• Subjects: Adaptation, Psychological; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Cognition; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Disease Progression; Effects; emotional well-being; Emotions; Female; functional ability; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; Huntington Disease - genetics; Huntington Disease - physiopathology; Huntington Disease - psychology; Huntington's disease; Huntingtons disease; Interview, Psychological - methods; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Neurology; Patients; physical; Qualitative research; quality of life; Quality of Life - psychology; Severity of Illness Index; social; Social and Behavioural Research in Clinical Genetics; Social Conformity; Social Desirability; Statistics, Nonparametric
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2011.01748.x

Ho AK, Hocaoglu MB for the European Huntington's Disease Network Quality of Life Working Group. Impact of Huntington disease across the entire disease spectrum: the phases and stages of disease from the patient perspective. Although Huntington's disease (HD) is a neurodegenerative disease characterized by motor, cognitive and behavioural disturbances, there has been little empirical data examining what patients are most concerned about throughout the different stages of disease, which can span many years. Semi‐structured face‐to‐face interviews were individually conducted with 31 people living with different stages of Huntington's, from pre‐clinical gene carriers to advanced stage. We examined how often participants raised issues and concerns regarding the impact of Huntington's on everyday life. The Physical/functional theme hardly featured pre‐clinically, but was strongly present from Stage 1, rose steadily and peaked at Stage 5. There were no significant changes between stages for the Emotional, Social, and Self themes that all featured across all stages, indicating that these issues were not raised more frequently over the course of the disease. Likewise, the more rarely mentioned Financial and Legal themes also remained similar across stages. However, the Cognitive theme only featured between Stages 1 and 4, and hardly at all pre‐clinically and at Stage 5. These findings provide insight into patients' important and unique perspective and have implications for the management and development of interventions across the spectrum of HD stages. Section Editor:
Aad Tibben, email: [e-mail]