Fysisk aktivitet, helserelatert livskvalitet og livstilfredshet ved Huntingtons sykdom - en tverrsnittstudie

Bakgrunn og formål: Det er gjort lite forskning på det fysiske aktivitetsnivået til personer med Huntingtons sykdom (HS), men det foreligger studier som indikerer at fysisk aktivitet har sammenheng med bedre helserelatert livskvalitet og motorisk funksjon hos denne pasientgruppen. Målet med denne studien er å beskrive det selvrapporterte fysiske aktivitetsnivået til personer i tidlig til middels fase av HS (stadium I-III), og å undersøke sammenhenger mellom fysiske aktivitetsnivå og ulike områder innenfor livskvalitetsbegrepet; helserelatert livskvalitet og livstilfredshet. Teoretisk forankring: Denne studien er basert på den biopsykososiale modellen og tar utgangspunkt i litteratur om HS, fysisk aktivitet, helserelatert livskvalitet og livstilfredshet. Metode: 42 deltakere i stadium I-III av HS er inkludert i denne tverrsnittstudien. Data om selvrapportert fysisk aktivitet, inkludert stillesittende tid, er samlet inn ved bruk av IPAQ-SF, og data om helserelatert livskvalitet og livstilfredshet er samlet inn ved bruk av henholdsvis EQ-VAS (fra EQ5D) og SWLS. I tillegg er demografiske og sykdomsspesifikke karakteristika innsamlet, sammen med informasjon om bruk av rehabiliteringstjenester og fysioterapi. Deskriptive analyser, og enkle- og multivariate regresjonsanalyser er gjennomført. Resultater: 6 (14 %) av deltakerne rapporterte om høy, 21 (50 %) middels og 15 (36 %) lavt nivå av fysisk aktivitet. Det var større sammenheng mellom sykdomsspesifikke variabler og helserelatert livskvalitet enn mellom sykdomsspesifikke variabler og livstilfredshet. I multivariat regresjonsanalysen fant vi at stillesittende tid (β verdi = -2.7, p = 0.030), depresjon (β verdi = -12.8, p = 0.042) og apati (β verdi = -17.5, p = 0.008) var negativt korrelert med helserelatert livskvalitet. Vi fant at fysisk aktivitet (β verdi = 5.2, p = 0.047) var positivt korrelert med livstilfredshet og at apati (β verdi = -6.5, p =0.003) var negativt korrelert med livstilfredshet. Konklusjon: I denne studien fant vi at stillesittende tid, sammen med depresjon og apati, har negativt sammenheng med redusert helserelatert livskvalitet. Vi fant en positiv sammenheng mellom fysisk aktivitet og livstilfredshet. Apati hadde imidlertid sterkest sammenheng med både livstilfredshet og helserelatert livskvalitet og er viktig å inkludere i videre forskning på effekter av fysisk aktivitet. Stillesittende tid er en variabel som bør bli gjenstand for mer forskning. Det trengs bedre designede studier, samt mer reliable målemetoder, for nærmere å undersøke eventuelle sammenhenger mellom fysisk aktivitet og helserelatert livskvalitet og livstilfredshet for denne gruppen

Physiotherapy and hereditary ataxia

Introduction: Hereditary ataxia is a group of rare, progressive genetic disorders that affects the neurological system and, in particular, the cerebellum. It results in poor coordination of movement and gait. As there is no curative treatment for hereditary ataxia, physiotherapy is essential for maintaining function and quality of life. Main part: Hereditary ataxia arises secondary to mutations/disease causing variants in a single gene that causes damage to the nervous system. Over 100 different genetic forms of hereditary ataxia have been described if all forms and syndromes are included. Research with new family cohorts continues to identify new forms every year. Patients who have been diagnosed with hereditary ataxia should be offered a comprehensive program of physiotherapy. Individualized assessments and therapy plans are needed because hereditary ataxia is a large and heterogeneous group of diseases. Such a physiotherapy plan aims to teach practical strategies to cope physically with activities of everyday life and includes the use of orthopedic and technical aids and adaptation of the environment. It also aims to maintain and improve function through a focus on balance, coordination, and strength using more specific exercises and training. It is important that the physiotherapist has in-depth knowledge about the diagnosis and collaborates effectively with doctors and other professional in order to provide the most beneficial care. Conclusion: Physiotherapy is an important component for the management of the physical effects of Hereditary Ataxia

Physiotherapy in Huntington’s disease

Introduction:Huntington’s disease is hereditary and causes motor, cognitive and behavioural symptoms that progress over time. The aim of this article is to describe the disease and to highlight why physiotherapy is important and to point out potential treatment strategies. Main section:Knowledge and principles about physical treatment can be transferred from other neurological diseases. There is a growing amount of research about physiotherapy and Huntington’s disease. Early intervention can improve the function and a goal is to sustain the level of function as long as possible. To motivate patients and teach them training they are able to do may help them to stay active. It may be a good idea to introduce aids while the patients are still able to learn how to use them. There are many tests that can be used to measure change, but no specific tests for HD. Conclusion:It’s important to take into account all aspects of the disease in addition to the motor symptoms. Training and physical therapy is an important aspect of the treatment of H

Cognitive performance after a one-year multidisciplinary intensive rehabilitation program for Huntington’s disease: an observational study

Background: Studies of physical therapy and multidisciplinary rehabilitation programs for Huntington’s disease (HD) have shown improvements in gait function, balance, and physical quality of life. There is a gap in the literature on effects of cognitive interventions and the potential to improve cognitive performance. Objective: To assess changes in cognitive performance among patients with early to middle stage HD as secondary analyses from a one-year multidisciplinary rehabilitation program. The program included cognitive stimulation as a non-specific cognitive intervention in addition to physical interventions. Methods: A one-year rehabilitation program that included comprehensive neuropsychological assessments was completed by 31 out 37 participants with early to middle stages of HD. Socio-demographic and clinical information was recorded. A battery of neuropsychological tests was used to measure cognitive functions before and after the intervention. Descriptive statistics was used for sample characteristics. Paired sample t-tests and nonparametric Wilcoxon Signed ranked tests were used to compare cognitive measures at both time points. Results: Scores on the Symbol Digit Modalities Test (SDMT) were significantly lower post intervention. There were no significant differences in all other measures. Scores on the Stroop color naming and California Verbal Learning Test-II (CVLT-II) long-term delayed recall tasks showed tendencies towards lower scores post intervention. Conclusions: An intensive multidisciplinary rehabilitation program for patients with HD was generally well tolerated and feasible, with no indication of negative effects on cognition. Neuropsychological measures overall remained stable following an intensive multidisciplinary rehabilitation program, however continued progression of cognitive impairment was evident on the SDMT, suggesting that disease progression is not halted. Randomized controlled trials are needed to verify these findings

What we don\u27t need to prove but need to do in multidisciplinary treatment and care in Huntington\u27s disease: A position paper

Background: Huntington’s disease is a complex neurodegenerative hereditary disease with symptoms in all domains of a person’s functioning. It begins after a healthy start in life and leads through the relentless progression over many years to complete care dependency and finally death. To date, the disease is incurable. The long progressive complex nature of the disease demands multiple disciplines for treatment and care of patient and family. These health care providers need inter- and multidisciplinary collaboration to persevere and be efficacious in this devastating disease trajectory. Discussion: The position paper outlines current knowledge and experience alongside the experience and consensus of a recognised group of HD multidisciplinary experts. Additionally the patient’s voice is clear and calls for health care providers with a holistic view on patient and family. Building long-term trust is a cornerstone of the network around the patient. This paper describes a managed care network comprising all the needed professionals and services. In the health care system, the role of a central coordinator or case manager is of key importance but lacks an appropriate guideline. Other disciplines currently without guidelines are general practitioners, nurses, psychologists, and social workers. Guidelines for neurologists, psychiatrists, geneticists, occupational therapists, speech and language therapists, physiotherapists, dieticians, and dentists are being discussed. Apart from all these profession-specific guidelines, distinctive inter- and multidisciplinary collaboration requirements must be met. Conclusions and recommendations: The complex nature of Huntington\u27s disease demands multidisciplinary treatment and care endorsed by international regulations and the lay association. Available guidelines as reviewed in this paper should be used, made available by a central body, and updated every 3 – 5 years. Time needs to be invested in developing missing guidelines but the lack of this ‘proof’ should not prevent the ‘doing’ of good care