title: Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners.
abstract: BACKGROUND
  Given the multifaceted nature of this inherited neurodegenerative condition, typically affecting adults in mid-life, it is perhaps not surprising that studies indicate poorer Health Related Quality of Life (HrQoL) in those with the gene-expansion and, by association, in their families.
  
  
  OBJECTIVE
  This study aimed to extend the current literature by exploring specific life domains, including at an earlier disease stage than usually reported in the HRQoL literature, and in a subgroup of gene-negative partners.
  
  
  METHODS
  355 participants from the TRACK-HD cohort (120 Controls, 118 Pre-HD and 117 early-HD) completed standardised self-report measures of HrQoL (SF36 and QoLI), underwent clinical assessments of capacity and motor function (UHDRS), semi structured interviews assessing neuropsychiatric symptoms (PBA-s), completed paper and computerized cognitive tasks and assessment of behaviours associated with damage to frontal brain circuits (FrSBe).
  
  
  RESULTS
  Each gene-expanded group scored statistically significantly lower than gene-negative sibling controls on the SF36 General Health subscale; neuropsychiatric symptoms and executive dysfunction were associated with reduced HrQoL. Those with Stage II disease reported statistically significantly lower HrQoL than gene-negative controls across physical, emotional and social life domains. Those partnered with manifest participants reported lower HrQoL in the social domain compared to those partnered with at-risk participants furthest from disease onset; and perseverative symptoms in manifest partners were found to be related to lower HrQoL in their gene-negative partners. HrQoL in gene-negative partners of pre-manifest individuals was associated with pre-manifest individuals' neuropsychiatric and cognitive function.
  
  
  CONCLUSIONS
  Understanding the nature and timing of disruption to the HrQoL in people who are pre-manifest and diagnosed with HD, and their gene-negative partners, can inform the development of appropriate strategies and interventions.
authors: UCL Institute of Neurology, University College London, Queen Square, London, UK.
authors: Joy
authors: J
authors: Read
authors: London School of Hygiene and Tropical Medicine, London, UK.
authors: Rebecca
authors: R
authors: Jones
authors: UCL Institute of Neurology, University College London, Queen Square, London, UK.
authors: Gail
authors: G
authors: Owen
authors: Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
authors: Blair R
authors: BR
authors: Leavitt
authors: Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
authors: Allison
authors: A
authors: Coleman
authors: Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
authors: Raymund A C
authors: RA
authors: Roos
authors: Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
authors: Eve M
authors: EM
authors: Dumas
authors: Department of Genetics and Cytogenetics, and INSERM UMR S679, APHP Hôpital de la Salpêtrière, Paris, France.
authors: Alexandra
authors: A
authors: Durr
authors: Department of Genetics and Cytogenetics, and INSERM UMR S679, APHP Hôpital de la Salpêtrière, Paris, France.
authors: Damian
authors: D
authors: Justo
authors: UCL Institute of Neurology, University College London, Queen Square, London, UK.
authors: Miranda
authors: M
authors: Say
authors: School of Psychology, Psychiatry, and Psychological Medicine, Monash University, Clayton Campus, VIC, Australia.
authors: Julie C
authors: JC
authors: Stout
authors: UCL Institute of Neurology, University College London, Queen Square, London, UK.
authors: Sarah J
authors: SJ
authors: Tabrizi
authors: University of Manchester, Manchester Academic Health Sciences Centre and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
authors: David
authors: D
authors: Craufurd
mesh_terms: D000328:Adult; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology / Q000523:psychology; D015331:Cohort Studies; D005260:Female; D006304:Health Status; D006801:Humans; D006816:Huntington Disease / Q000150:complications / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D062706:Prodromal Symptoms; D011788:Quality of Life; D018454:Spouses / Q000523:psychology*
keywords: Huntington's disease; TRACK-HD; cognitive function; life domains; neuropsychiatric function; quality of life