Health related quality of life, service utilization and costs for patients with Huntington's disease in Norway.

BACKGROUND: Huntington's disease (HD) is a progressive genetic neurodegenerative disease accompanied by mental and neurocognitive disabilities, which requires long-term and comprehensive treatment and care. Information on the health and economic burden of HD is scarce, but essential for conducting health economic analyses, in light of the prospect of new therapies for HD. In this study, we aim to identify values for Health-Related Quality of Life (HRQoL), describe service utilization and costs, and their associations with clinical and socio-demographic variables across all phases of HD. METHODS: A cross-sectional study including 86 patients across all phases of HD. Values of HRQoL were calculated based on EQ-5D-3L index scores. Additionally, health care and societal costs were estimated based on service utilization collected using the Client Service Receipt Inventory (CSRI) and data from the patients' interviews. Total societal costs included costs of primary and secondary health care services, informal care and productivity loss of the patients. Multiple regression analyses were used to investigate associations between socio-demographic and clinical variables on HRQoL and costs. RESULTS: HRQoL values declined, while total costs increased across disease severity. Total six-month healthcare costs and total societal costs were € 18,538 and € 66,789 respectively. Healthcare and societal costs doubled from early to middle phase, and tripled from middle to advanced disease phase. Main six-month cost components for the three disease phases were informal care costs (€ 30,605) accounting for approximately half the total societal costs, and costs due to production loss (€ 18,907) being slightly higher than the total healthcare costs. Disease severity and gender were found to have the strongest effect on both values of HRQoL and costs. CONCLUSIONS: Reported values of HRQoL and costs including costs for production loss may be used in modelling the cost-effectiveness of treatment for HD. Our results highlight the crucial role the informal caregivers play in the care provided to HD patients in all disease phases. Future research should focus on the estimation of productivity loss among informal caregivers.

Self-reported physical activity in people with limb-girdle muscular dystrophy and Charcot-Marie-Tooth disease in Norway.

BACKGROUND: Physical activity is associated with positive health effects, but individuals with neuromuscular disease (NMD) may experience constraints being physically active. There is a gap in the literature on the activity level of people with NMDs, and therefore we did a study to determine the physical activity level in people with Limb-Girdle muscular dystrophy (LGMD) and Charcot-Marie-Tooth disease (CMT). METHODS: This study used a cross-sectional design to obtain self-reported physical activity and sitting time among individuals with LGMD and CMT who were recruited from the Norwegian registry for hereditary and congenital neuromuscular diseases. RESULTS: A total of 127 respondents who filled out questionnaires about either physical activity or sitting time were included in the analysis. Seventy (55.1%) had a diagnosis of CMT and 57 (44.9%) had a diagnosis of LGMD. Seventy-three (57.5%) respondents were female and 54 (42.5%) were male. Among the 108 respondents with available physical activity data, 44.4% reported being physically inactive. Among the 109 respondents with available sitting time data, the average sitting time was 8.6 h. Longer sitting time was associated with higher physical inactivity. CONCLUSION: Among people with LGMD and CMT in our study, 55.6% reported being physically active. Respondents with LGMD and CMT reported longer sitting time and less physical activity compared with healthy respondents in other studies. Further research should explore variables and measures that can promote physical activity among people with neuromuscular conditions.

Trajectories of self-reported competency up to 10 years following moderate-to-severe traumatic brain injury.

Objectives: To describe trajectories of self-reported functional competency up to 10 years following traumatic brain injury (TBI) and identify their predictors from baseline socio-demographic and injury severity characteristics.Design and methods: Data from 94 participants from a longitudinal cohort of patients with moderate-to-severe TBI were analyzed. Socio-demographic and injury severity data were recorded at baseline. Participants completed the Patient Competency Rating Scale (PCRS) at 1, 2, 5, and 10 years. Hierarchical linear modeling was used to examine PCRS trajectories over time and assess baseline predictors.Results: There was no significant change in average PCRS scores across the follow-up time points in the full sample. Emotional and cognitive competencies had the lowest mean scores. Gender, employment, and the interaction term between gender and time were significant predictors of PCRS trajectories. Females and those who were unemployed at the time of injury showed lower trajectories of self-reported competency.Conclusion: Self-reported competency remained stable from one-year post-injury for men only. Lower mean scores in the domains of emotional and cognitive competencies suggest a need for continued rehabilitation focus in the chronic phase after TBI. Special attention to women and individuals who are unemployed at the time of injury may be warranted.

Uncovering health and social care needs among myotonic dystrophy patients: Utility of the Needs and Provisions Complexity Scale.

OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a slowly progressive multisystem disorder. Guidelines recommend multidisciplinary follow-up. We aimed to investigate the presence of unmet health and social care needs among patients with DM1 and whether unmet needs correlated with motor function, cognitive impairments, or quality of life. MATERIAL AND METHODS: Patients were 22 adults with DM1. "Needs and Provisions Complexity Scale" (NPCS) was applied to evaluate the individual's needs and provision of health and social services. The Muscular Impairment Rating Scale (MIRS) was used to measure motor function and disease stage. All patients underwent neuropsychological testing. The EQ-5D-3L questionnaire was used to evaluate the patients' health-related quality of life (HRQoL). RESULTS: Median time from diagnosis was 11 years (range: 1-40). Twenty patients had developed needs related to social care, personal care, and rehabilitation that had not been met, whereas need for medical follow-up was largely met. The more pronounced the muscular impairment, the more unmet needs were experienced by DM1 patients (r = 0.50, P = 0.019). Degree of unmet needs did not correlate with full-scale IQ (r = -0.27, P = 0.23) or HRQoL (r = -0.14, P = 0.55). CONCLUSION: Using NPCS, we discovered that patients with DM1 had unmet needs with respect to social care, personal care, and rehabilitation although their need for medical follow-up was met. Thus, the use of NPCS helped bring our practice in better accordance with guidelines. A higher MIRS grade should alert the clinician to the likelihood of unmet needs.

Health-related quality of life and unmet healthcare needs in Huntington's disease.

BACKGROUND: Huntington's disease (HD) is a rare neurodegenerative disorder with a prevalence of 6 per 100.000. Despite increasing research activity on HD, evidence on healthcare utilization, patients' needs for healthcare services and Health-Related Quality of Life (HRQoL) is still sparse. The present study describes HRQoL in a Norwegian cohort of HD patients, and assesses associations between unmet healthcare and social support service needs and HRQoL. METHODS: In this cross-sectional population-based study, 84 patients with a clinical diagnosis of HD living in the South-East of Norway completed the HRQoL questionnaire EuroQol, EQ-5D-3L. Unmet needs for healthcare and social support services were assessed by the Needs and Provision Complexity Scale (NPCS). Furthermore, functional ability was determined using the Unified Huntington's Disease Rating Scale (UHDRS) Functional assessment scales. Socio-demographics (age, gender, marital status, occupation, residence, housing situation) and clinical characteristics (disease duration, total functional capacity, comorbidity) were also recorded. Descriptive statistics were used to describe the patients' HRQoL. Regression analyses were conducted in order to investigate the relationship between unmet healthcare needs and self-reported HRQoL. RESULTS: The patients were divided across five disease stages as follows: Stage I: n = 12 (14%), Stage II: n = 22 (27%), Stage III: n = 19 (23%), Stage IV: n = 14 (16%), and Stage V: n = 17 (20%). Overall HRQoL was lowest in patients with advanced disease (Stages IV and V), while patients in the middle phase (Stage III) showed the most varied health profile for the five EQ-5D-3L dimensions. The regression model including level of unmet needs, clinical characteristics and demographics (age and education) accounted for 42% of variance in HRQoL. A higher level of unmet needs was associated with lower HRQoL (ß value - 0.228; p = 0.018) whereas a better total functional capacity corresponded to higher HRQoL (ß value 0.564; p < 0.001). CONCLUSIONS: The study findings suggest that patients with HD do not receive healthcare services that could have a positive impact on their HRQoL.

Neuropsychiatric symptoms in a European Huntington's disease cohort (REGISTRY).

BACKGROUND: The majority of Huntington's disease (HD) mutation carriers experience some psychopathology during their lifetime, varying from irritability to psychosis, but prevalences of particular symptoms vary widely due to diverse study populations in different stages of HD and the use of different assessment methods. METHODS: The study population consisted of 1993 HD mutation carriers from 15 European countries, all participating in the observational REGISTRY study. The behavioural section of the Unified HD Rating Scale was used to examine the prevalence and correlates of five neuropsychiatric features: depression, irritability/aggression, obsessive/compulsive behaviours, apathy and psychosis. RESULTS: Twenty-seven per cent of the participants did not have any neuropsychiatric symptom in the last month. Moderate to severe apathy occurred in 28.1% of the participants, whereas moderate to severe depression was found in 12.7%. Irritable/aggressive symptoms were present in 13.9% of the participants, and 13.2% showed obsessive/compulsive behaviours. Moderate to severe psychotic symptoms were found in only 1.2%. Only 54.9% of all participants with moderate to severe depression used antidepressants, suggesting undertreatment of depression. Obsessive/compulsive behaviours and irritability/aggression were inversely correlated with the Total Functional Capacity score, but with apathy showing the strongest inverse association. CONCLUSIONS: A variety of neuropsychiatric symptoms are highly prevalent in different stages of HD in this European HD population, with apathy as the most frequent symptom. Depression, irritability/aggression and OCBs are prevalent in all stages of HD. Apathy was the key neuropsychiatric symptom occurring most often in advanced HD stages. Due to possible selection of relatively healthy participants, prevalences reported in this study might be an underestimation of prevalence in the entire HD population.

Primary health care professionals' experiences with caring for patients with advanced Huntington's disease: a qualitative study.

BACKGROUND: Huntington's disease (HD) has substantial impact on patients and carers' lives. Managing patients in the advanced phase of HD may be challenging to primary health care professionals. The aim of this study is to elicit health care professionals' experiences of managing the challenges with patients with advanced HD in primary health care. METHODS: We did a qualitative study, collecting data from four focus group interviews with 22 primary health care professionals who had experience with caring for patients with HD in Norway. The data were analysed using a qualitative content analysis method, systematic text condensation. RESULTS: We found that health care professionals who care for patients with HD in primary health care experience challenges related to patients' behaviour, family members and caregivers, professionals' individual competency, and the organizational context. They conveyed that successful care and management of patients with advanced HD was dependent on individuals' competency and "everyday tactics", well-functioning teams, and leadership and organizational support. CONCLUSION: In addition to individual competencies, including being personally suitable for the job, well-functioning primary care teams, and organization support and training is important for health care professionals' ability to manage patients with advanced HD in primary health care.

Validity of the Norwegian Version of the Needs and Provision Complexity Scale (NPCS) in Patients with Traumatic Brain Injury and Atraumatic Subarachnoid Hemorrhage.

There is a lack of validated measures in Scandinavian languages to track healthcare service needs and delivery for patients with neurological disabilities. The aim of the present study was to validate the Norwegian version of the clinician and patient Needs and Provision Complexity Scale (NPCS) Needs and Gets. Data on the NPCS from 60 adult patients with traumatic brain injury or atraumatic subarachnoid hemorrhage and symptoms lasting >5 months were assessed for inter-rater/test-retest reliability and agreement, as well as concurrent validity with the Neurological Impairment Scale (NIS), the Functional Independence Measure (FIM), and the Community Integration Questionnaire (CIQ). The clinician NPCS showed good-excellent inter-rater reliability, and the patient NPCS demonstrated good-excellent test-retest reliability. Absolute agreement was moderate-excellent across all clinician and patient items. Concurrent validity was significant, with large correlations between clinician NPCS-Needs and the NIS and FIM total scores, and small-medium correlations between the clinician and patient NPCS-Gets and the NIS and FIM total scores. There were no significant correlations between the NPCS and the CIQ. The study findings support the use of the Norwegian version of the NPCS to assess met and unmet healthcare and support needs for Norwegian-speaking adults with neurological disabilities.

Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.

BACKGROUND: Physical activity may help to promote health in patients with Limb-girdle muscular dystrophy (LGMD) and Charcot-Marie-Tooth disease (CMT). OBJECTIVE: To investigate associations between functional ability and other variables, with physical activity in people with LGMD and CMT grouped according to the International Classification of Functioning, Disability, and Health (ICF). METHODS: We did a cross-sectional study, recruiting respondents from the Norwegian registry of inherited neuromuscular disorders. We used the Norwegian version of Barthel index of Activities of Daily Living (ADL) to measure functional ability and the International Physical Activity Questionnaire -short form (IPAQ-sf) to classify physical activity. We used multivariable logistic regression analysis to investigate associations between variables. RESULTS: 145 subjects were recruited (79 with CMT and 66 with LGMD). 55.6% of the subjects met a minimum recommendation of physical activity. Participants with moderate to severe functional ability were more likely to be physically inactive compared to those with normal functional ability (OR 19.7; 95% CI 3.1-127.2). Mildly decreased functional ability also showed higher odds of being physically inactive compared to participants with normal functional ability (OR 4.1; 95% CI 1.1-15.6). Higher education was associated with inactivity. Fatigue, participation in physiotherapy, and participation in adapted physical activity programs were not associated with physical activity. CONCLUSIONS: Low functional ability was associated with physical inactivity in both LGMD and CMT. Association between higher education and inactivity might indicate the need to provide more understanding about physical activity benefit in this group.

Discriminant analysis of Beck Depression Inventory and Hamilton Rating Scale for Depression in Huntington's disease.

Depression is common in Huntington's disease, but standard rating scales have doubtful validity in this population. Using data from the European Huntington's Disease REGISTRY study, the authors examined the discriminant value of items on the Beck Depression Inventory (N=843) and the Hamilton Rating Scale for Depression (N=768). Good discriminators of depression, apart from "depressed mood," were "guilt," "loss of interest," and "suicidality." Items that discriminated poorly were "weight loss," "sleep disturbance," "loss of appetite," "psychomotor retardation," "agitation," and "irritability." These findings highlight the limited usefulness of these scales within the area of Huntington's disease.

Health-Related Quality of Life Trajectories across 10 Years after Moderate to Severe Traumatic Brain Injury in Norway.

Traumatic brain injury (TBI) has a long-lasting impact on participation and health-related quality of life (HRQL). We aimed to describe the physical and mental health trajectories and to identify their predictors across the first 10 years after TBI. A prospective longitudinal cohort of 97 individuals with moderate to severe TBI (age 16-55 years) in Norway were followed up at 1, 2, 5, and 10 years post-injury. Their socio-demographic and injury characteristics were recorded at baseline; their responses to the 36-Item Short Form Health Survey (SF-36) were collected at each follow-up. The Physical (PCS) and Mental Component Summary (MCS) scores were used as the outcome measures of physical and mental health. The predictors of the trajectories were described and examined using hierarchical linear modelling. The subscale scores showed a stable or increasing trend, but only the Role Physical and Role Emotional subscales showed clinically relevant positive changes from 1 to 10 years post-injury. Longer time, male gender, employment pre-injury, and shorter length of post-traumatic amnesia were significant predictors of better physical health trajectories; longer time, male gender, and employment pre-injury were significant predictors of better mental health trajectories. At-risk individuals may be targeted to receive rehabilitation interventions to improve their long-term quality of life outcomes.

Systematic Monitoring of Cognition for Adults With Cerebral Palsy-The Rationale Behind the Development of the CPCog-Adult Follow-Up Protocol.

Cerebral palsy (CP) comprises a heterogeneous group of conditions recognized by disturbances of movement and posture and is caused by a non-progressive injury to the developing brain. Birth prevalence of CP is about 2-2.5 per 1,000 live births. Although the motor impairment is the hallmark of the diagnosis, individuals with CP often have other impairments, including cognitive ones. Cognitive impairments may affect communication, education, vocational opportunities, participation, and mental health. For many years, CP has been considered a "childhood disability," but the challenges continue through the life course, and health issues may worsen and new challenges may arise with age. This is particularly true for cognitive impairments, which may become more pronounced as the demands of life increase. For individuals with CP, there is no one-to-one correlation between cognition and functioning in other areas, and therefore, cognition must be individually assessed to determine what targeted interventions might be beneficial. To facilitate this for children with CP, a systematic follow-up protocol of cognition, the CPCog, has been implemented in Norway and Sweden. However, no such protocol currently exists for adults with CP. Such discontinuity in healthcare services that results from lack of follow-up of cognitive functioning and subsequent needs for adjustments and interventions makes transition from pediatric to adult healthcare services challenging. As a result, a protocol for the surveillance of cognition in adults with CP, the CPCog-Adult, has been developed. It includes assessment of verbal skills, non-verbal reasoning, visual-spatial perception, and executive functioning. It is recommended to perform these assessments at least once in young adulthood and once in the mid-fifties. This report describes the process of developing the CPCog-Adult, which has a three-fold purpose: (1) to provide equal access to healthcare services to enable the detection of cognitive impairments; (2) to provide interventions that increase educational and vocational participation, enhance quality of life, and prevent secondary impairments; and (3) to collect systematic data for research purposes. The consent-based registration of data in the well-established Swedish and Norwegian national CP registries will secure longitudinal data from childhood into adulthood.

Therapeutic Use of Music, Dance, and Rhythmic Auditory Cueing for Patients with Huntington's Disease: A Systematic Review.

BACKGROUND: Studies have assessed the therapeutic effect of music, dance, and rhythmic auditory cueing for patients with Huntington's disease (HD). However, the synthesis of evidence in support of their positive impact on symptoms is lacking. OBJECTIVE: We conducted a systematic literature review to evaluate the potential benefits of music, dance, and rhythm on the cognitive, psychiatric and motor function in patients with HD. METHODS: Two- and three-keyword searches and a manual search identified medical literature published from 1999 through 2019. We considered literature that assessed outcomes of art-based rehabilitation programs or individual modalities for persons with early, middle, or advanced HD. Structured analysis was conducted using data entry tables with categories for patient health status, art methods, and outcomes. RESULTS: Seven articles and six abstracts met eligibility criteria, of which nine evaluated art-based rehabilitation programs. Studies mainly assessed cognitive, psychiatric, and motor functions through music, dance, or rhythm modalities. Although results were conflicting, in summary improvements to motor function were dependent on disease severity and more responsive to art therapy programs than rhythm-motor synchronization. Benefits to global cognition that resulted from rhythmic training correlated with microstructural changes. Qualitative data verified a positive impact on language production, chorea, behavior, and quality of life. CONCLUSIONS: Our review has shown a potential benefit of music, dance, and rhythm for patients with HD, which is particularly important for a disease that has no cure. Art forms seemed to affect cognitive, psychiatric, motor, psychosocial, and neuroanatomical domains. However, evidence is preliminary, warranting further investigation to establish the foundation for this field.

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.

The challenges of describing rehabilitation services: A discussion paper.

To apply the Classification of Service Organization in Rehabilitation (ICSO-R) classification of services to different target groups, include the user perspective, identify missing categories, and propose standardized descriptors for the categories from a Norwegian perspective. Expert-based consensus conferences with user involvement. Health professionals, stakeholders and users. Participants were divided into 5 panels, which applied the ICSO-R to describe the habilitation and rehabilitation services provided to children with cerebral palsy and people with Huntington's disease, acquired brain injuries (traumatic brain injuries and stroke) and painful musculoskeletal conditions. Based on the Problem/Population, Intervention, Comparison, Outcome (PICO) framework, the services were described according to the ICSO-R. Missing categories were identified. The ICSO-R was found to be feasible and applicable for describing a variety of services provided to different target groups in Norway, but the user perspective was lacking, categories were missing, and a need for standardized description of the categories was identified. The present work supports the need to produce an updated version of the ICSO-R and to encourage national and international discussion of the framework. The ICSO-R has the potential to become a tool for the standardized assessment of rehabilitation services. For such purposes, more standardized descriptions of subcategories are necessary.

Assistive Technology for Cognition and Health-related Quality of Life in Huntington's Disease.

BACKGROUND: Assistive technology for cognition (ATC) can be defined as external devices aimed at supporting cognitive function. Studies in neurological populations suggest that use of ATC is a promising strategy to ameliorate negative effects of cognitive impairment and improve Health-related Quality of Life (HRQoL). There is a lack of studies on the effects of ATC in HD. OBJECTIVE: This study aimed to describe the use of ATC in patients with HD, and to investigate the association between ATC and HRQoL. METHODS: A cross-sectional population-based study, including eighty-four patients with a clinical HD diagnosis (stages I-V). Socio-demographic and clinical data were collected, including information regarding various aspects of ATC use and an evaluation of cognitive impairment was performed. The Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity scale (TFC) and the EQ-5D Visual Analogue Scale were used to evaluate functional ability and HRQoL. Descriptive analyses were conducted to describe ATC use and regression analyses to investigate associations between ATC and HRQoL. RESULTS: Thirty-seven percent of the patients had ATC, and ATC was used most frequently in stages I-III. Information about ATC, needs evaluation and training was provided to 44%, 32.1% and 20.2% respectively. The regression analysis showed a significant association between TFC and HRQoL (ß value = -0.564, p = 0.001), but there was no association between ATC and HRQoL. CONCLUSIONS: One-third of all patients used ATC, mainly those with mild to moderate cognitive impairment (stage I -III). No association between ATC and HRQoL was found. More research is needed to investigate effects of ATC in HD.

Unmet needs for healthcare and social support services in patients with Huntington's disease: a cross-sectional population-based study.

BACKGROUND: In order to plan and improve provision of comprehensive care in Huntington's disease (HD), it is critical to understand the gaps in healthcare and social support services provided to HD patients. Research has described utilization of healthcare services in HD in Europe, however, studies systematically examining needs for healthcare services and social support are lacking. This study aims to identify the level and type of met and unmet needs for health and social care services among patients with HD, and explore associated clinical and socio-demographic factors. METHODS: Eighty-six patients with a clinical diagnosis of HD living in the South-Eastern region of Norway were recruited. Socio-demographic and clinical characteristics were collected. The Needs and Provision Complexity Scale (NPCS) was used to assess the patients' needs for healthcare and social services. Functional ability and disease stage was assessed using the UHDRS Functional assessment scales. In order to investigate factors determining the level of total unmet needs and the level of unmet needs for Health and personal care and Social care and support services, multivariate logistic regression models were used. RESULTS: A high level of unmet needs for health and personal care and social support services were found across all five disease stages, but most marked in disease stage III. The middle phase (disease stage III) and advanced phase (disease stages IV and V) of HD increased odds of having a high level of total unmet needs by 3.5 times and 1.4 times respectively, compared with the early phase (disease stages I and II). Similar results were found for level of unmet needs in the domain Health and personal care. Higher education tended to decrease odds of high level of unmet needs in this domain (OR = 0.48) and increase odds of higher level of unmet needs in the domain of Social care and support (OR = 1.3). Patients reporting needs on their own tended to decrease odds of having unmet needs in Health and personal care (OR = 0.57). CONCLUSIONS: Needs for healthcare and social services in patients with HD should be assessed in a systematic manner, in order to provide adequate comprehensive care during the course of disease.

Effects of a Two-Year Intensive Multidisciplinary Rehabilitation Program for Patients with Huntington's Disease: a Prospective Intervention Study.

OBJECTIVE: To assess effects of a two year intensive, multidisciplinary rehabilitation program for patients with early- to mid-stage Huntington's disease. DESIGN: A prospective intervention study. SETTING: One inpatient rehabilitation center in Norway. SUBJECTS: 10 patients, with early- to mid-stage Huntington's disease. INTERVENTIONS: A two year rehabilitation program, consisting of six admissions of three weeks each, and two evaluation stays approximately three months after the third and sixth rehabilitation admission. The program focused on physical exercise, social activities, and group/teaching sessions. MAIN OUTCOME MEASURES: Standard measures for motor function, including gait and balance, cognitive function, including MMSE and UHDRS cognitive assessment, anxiety and depression, activities of daily living (ADL), health related quality of life (QoL) and Body Mass Index (BMI). RESULTS: Six out of ten patients completed the full program. Slight, but non-significant, decline was observed for gait and balance from baseline to the evaluation stay after two years. Non-significant improvements were observed in physical QoL, anxiety and depression, and BMI. ADL-function remained stable with no significant decline. None of the cognitive measures showed a significant decline. An analysis of individual cases revealed that four out of the six participants who completed the program sustained or improved their motor function, while motor function declined in two participants. All the six patients who completed the program reported improved or stable QoL throughout the study period. CONCLUSION: Our findings suggest that participation in an intensive rehabilitation program is well tolerated among motivated patients with early to mid-stage HD. The findings should be interpreted with caution due to the small sample size in this study.

Effects of a One Year Intensive Multidisciplinary Rehabilitation Program for Patients with Huntington's Disease: a Prospective Intervention Study.

OBJECTIVE: To assess the effects of an intensive, multidisciplinary rehabilitation program for patients with early to mid-stage Huntington's disease. DESIGN: A prospective intervention study. SETTING: Two Norwegian inpatient rehabilitation centers. SUBJECTS: 37 patients, with early- to midstage Huntington's disease Interventions: A one year rehabilitation program, consisting of three admissions of three weeks each, and a five-day evaluation stay approximately 3 months after the last rehabilitation admission. Focus was on physical exercise, social activities, and group/teaching sessions. There was also emphasis to implement of coordinated health care and social services for the patients. MAIN OUTCOME MEASURES: standard measures for motor function, including gait and balance, cognitive function, including MMSE and UHDRS cognitive assessment, anxiety and depression, activities of daily living (ADL), health related quality of life and Body Mass Index (BMI). RESULTS: Significant improvements were observed in gait function, balance, in physical quality of life, anxiety and depression, as well as in BMI. ADL-function remained stable with no significant decline. Only one cognitive measure (SDMT) showed significant decline, while no decline was observed for the remaining cognitive measures. CONCLUSION: A multidisciplinary intensive rehabilitation program in patients with early and mid stage HD is associated with improved balance, gait function, physical quality of life and with reduced depressive and anxiety symptoms. Longer follow-up is needed to assess if these positive effects are sustained. There should be emphasis to establishment of long term and coordinated health care services for the HD patient.

A double blind evaluation of cognitive decline in a Norwegian cohort of asymptomatic carriers of Huntington's disease.

Previous studies investigating subclinical signs of cognitive decline in presymptomatic carriers of Huntington's disease (HD) have shown conflicting results. The current study examines cognition in 105 at-risk individuals, using a broad neuropsychological test battery and adopting strict inclusion criteria for attaining a homogeneous sample. Results obtained by analyses of variance and effect size calculations indicate no clinical evidence of significant cognitive decline in asymptomatic HD carriers very far from onset of illness compared to noncarriers. Closeness to disease onset amongst gene carriers influenced cognition negatively whereas cytosine-adenine-guanine (CAG) repeat size did not. The findings call for longitudinal follow-up studies using a combination of clinical instruments and experimental paradigms to pinpoint when subtle cognitive deficits occur and within which of the cognitive domains.