1970 qualified medical doctor University og Oslo (cand med - MD) 1975 admitted Member of the Royal Australasian College of Physicians (MRACP) 1976 admitted Fellow of the Royal Australasian College of Physicians (FRACP) 1975-77 Research fellow rheumatologi and Sernior House Officer Univeristy of Bristol, UK 1978-1979 Senior lecturer and Consultant physiciand, Salford, Universit of Mancheser, UK 1979-80 Rhumatology Fellow Betanien Hopsital, Skien, Norway Since 1980 Consultant Rehumatologist, Vikersund Rehabilitation Centre, Norway Have published about 40 research papers in national and international literature on internal medicine, rheumatology and rehabilitation. Author and co-author of books about Raynauds phenomenon and Osteoporosis 1983 awarden the international Volvo Prize for the best back pain research paper that year 2008 awarded the Norwegian Kings Gold Medal for outstanding work for the rheumatic patients
Attending neurologist at Oslo University Hospital, and Professor of Health Management at University of Oslo. Visiting Professor, School of Public Health, Yale University.
Huntington’s disease (HD) is a hereditary autosomal neurodegenerative disorder caused by an expanded Cytosine-Adenine-Guanine (CAG) repeat in the HD gene
In recent years, the interest in investigating the effects of non-therapeutic agents for managing and improving the symptoms of HD has been growing. Multiple studies have investigated treatment with physiotherapy. These studies showed beneficial effects and have also investigated sensitive standard physiotherapy outcome measures
In 2009, The Norwegian Directorate of Health initiated the establishment of a pilot project to investigate effects of HD patients’ participation in an intensive multidisciplinary rehabilitation program. The primary aim of the project was to replicate the results reported by Zinzi et al. (2007). Additionally, the present project aimed at performing a more in depth quantitative evaluation by using a greater variety of assessments, including measures of quality of life, ADL function, motor and cognitive function throughout three times 3-week intensive multidisciplinary rehabilitation program. Another goal was to obtain better retention numbers by closely following up the participants during the course of the program. Providing information about the rehabilitation program prior to the first time admission and information in the end of each rehabilitation stay for participants and his/hers family member and local caregivers were important to secure retention in programs. Participants/ families had also possibility to contact directly institutions also between the rehabilitation stays. The final and important goal of this project was to implement the establishment or initiation of coordinated health care and social services for participants, using a so called “Individual plan”. An Individual Plan is a statutory tool for co-operation between patient and local health care providers or the labour and welfare organization to secure long-term follow-up for persons with chronic diseases and disabilities in Norway. It contains an outline of patient’s goals, recourses and the services he or she may require due to disability. It is not conditional on any particular diagnosis or age. It’s not required that patient need to receive specialist healthcare to receive this plan and it can be used at any level of health care services. It also specifies when the different actions are to be carried out and who is responsible to execute these actions
This project included a quantitative and a qualitative evaluation. The present paper reports the quantitative results after one-year participation in the program. Results of the qualitative evaluation of the experiences of the participants, their family members and healthcare providers will be reported elsewhere.
A total of 37 patients were enrolled in the rehabilitation program in the two rehabilitation centers in Vikersund and Tromsø. The following inclusion criteria were used: 1) age >18 years, 2) known genetic diagnosis of Huntington´s disease, 3) early to mid stage HD, equivalent to stages I-III on Shoulson & Fahn rating scale, 4) no diagnoses of severe psychiatric disease and 5) no apparent severe impairment in general cognitive function at the time of first admission.
There was no a specific cognitive testing prior to patient enrollment to the program. The referring physicians were asked to do a clinical evaluation of the patient, and the main focus was whether or not the patient was able to stay in the institution within being helped with daily functions such as dressing/undressing and daily hygiene.
Information about the project was spread by posting information on the web sites of both inpatient rehabilitation centers, the web site of a specialized national competence center for rare diseases, and announcements through the Norwegian patient association for HD. Participants were referred by their general practitioners or by specialists in neurology or psychiatry. Based on referrals and the patients’ own preference, they were enrolled in the rehabilitation programs in the two sites. The project was submitted to the ethics committee who considered that a formal approval was not necessary (ref. 2010/2629-7), and thus approval was only obtained from the Norwegian Social Science Data Services. Participants were included in groups of four to six persons during 2010 – 2012. All participants and their family members received written and oral information, and gave their written informed consent to participate in the project. The participants in the present study all completed an evaluation stay three months after discharge of the third stay. For all participants the following demographic information was collected from the medical records at the time of the first admission: age, gender, marital status, estimated disease duration. Additionally, baseline clinical characteristics were collected using standardized assessments, including the motor, functional and behavioral assessment of Unified Huntington´s Disease Rating Scale (UHDRS)
The structure of the rehabilitation program was identical for both rehabilitation centers, with three in-patient stays of three weeks each during one year. The program consisted of up to 8 hours of various activities five days a week, from Monday to Friday, and one of the sites (Tromsø) also offered four hours of supervised activities during the weekend. Each day included specific daily training activities with physio-, occupational- and speech therapists, as well as training in groups in the gym and/or in a swimming pool. Additionally, there were patient education sessions and group discussions for participants. Physical therapy focused on improvement of balance and gait, occupational therapy sessions included training of Activities of Daily Living (ADL) and cognitive function, fine motor exercises and assessment of the need for assistive devices. Dietitians followed-up each participant and a social worker and psychologist also offered individual follow-up. For those who had a low Body Mass Index (BMI) (< 21) and / or had problems with swallowing, dietary adjustments were made and a dietitian monitored their progress during their stays. Nurses observed and helped participants with reduced cognitive function or who showed problems in ADL function due to chorea.
If necessary, participants received medication adjustment throughout the project period. Most adjustments were made by a neurologist in order to reduce choreatic movements or other motor and clinical symptoms such as depressive symptoms and sleep disturbances.
Family members were included in the program during the first few days of the first admission as well as during the evaluation stay. If necessary, additional follow-up for participants and family members was provided between the various rehabilitation admissions. Furthermore, the program aimed at establishing good co-operation between the rehabilitation centers and the health care professionals in the participant’s local community, with the aim of securing adequate follow-up after participants completed the in-patient rehabilitation study. There was special emphasis on establishing of an Individual plan. A multidisciplinary team set rehabilitation short and long-term goals together with the participant. Each participant was discussed in a multidisciplinary team during each stay in order to secure optimal rehabilitation for each individual. Further information about description of rehabilitation program is in the Appendix, table A.
A health economical analysis was not built into the evaluation. The program was established with-in the current reimbursement scheme for rehabilitation in Norway, with a daily reimbursement of approximately 3 000 NOK (equals 500 USD) per patient. The cost of a three-week program for each patient will hence be approximately 63 000 NOK (equals 10 500 USD).
As measures of motor function
The Hospital Anxiety and Depression Scale (HADS) is a 14 item self-report questionnaire, and was used to assess symptoms of anxiety and depression. Each item is rated 0 – 3, generating a maximum total score of 42 points. Even items from the Depression sub-scale and uneven items from the Anxiety subscale is also possible to rate
The Short Form-12 (SF-12) a self-report questionnaire consisting of two component scores for Physical and Mental quality of life, respectively, was used to assess the participants´ quality of life and participation and was assessed at the beginning of each admission
Additionally, the participants’ BMI was assessed during each stay. Participants with a BMI lower than 21 were monitored by a dietitian during the full three-week stay. All assessments were conducted by experienced staff, as far as possible, by the same staff member. The UHDRS motor and cognitive assessments were performed by the same trained professionals (JCF and MvW). All outcome measures used in the present study are widely used in the field of neurological and geriatric rehabilitation.
For gait and balance variables, the linear mixed effect model of Analysis of Variance (ANOVA) was used to show mean changes from baseline (stay 1) for stay two, stay three and the evaluation stay (stay 4). In the case of a non-normal distribution, non-parametric Friedman’s ANOVA test was used.
For the remaining variables, comparison between baseline and the final evaluation was done using Paired t-test or non-parametric Wilcoxon Signed Rank test depending on the distribution of the data.
The SPSS software, version 20 was used for all statistical analyses. Level of significance was set at p<0.05.
A total of 37 patients were enrolled in the rehabilitation programs with the following demographic characteristics at baseline: the mean age of the participants was 52.4 (SD±13.1) years and 51.4% (n=19) of the participants were women. 54.1% (n=20) were married and 83.8% (n=31) had children. A minority of participants (24.3%, n=9) were smokers. An Individual Plan was established for 35.1% (n=13) and 44.2 % (n=16) received some kind of assistance at home. Mean symptom duration was 7.2 (SD±5.7) years and mean score for total functional capacity (TFC) was 8.9 (SD±2.3). 24.3% (n=9) participants were in stage I, 56.8 % (n=21) participants in stage II, and 18.9 % (n=7) participants in stage III on Shoulson & Fahn scale. Furthermore, participants had a mean UHDRS motor score of 36.6 (SD±16.7), a mean UHDRS behavioral score of 9.2 (SD±8.5) and MMSE score of 25.4 (SD±3.5). The mean BMI was 22.8 (SD±3.2). Mean time from the first admission to evaluation stay was 377.3 days (SD±55.9) and the mean time from discharge at 3rdstay to evaluation stay was 95.4 days (SD ±34.2). Information about patients’ medication use according to disease stage at baseline is in the Appendix, table B.
The patient recruitment was based on physicians’ referrals, and only one patient who was referred did not meet the inclusion criteria. Reason for exclusion was patient’s poor ADL function.
There was significant improvement in gait (measured by TUG, 10MWT and 6MWT) from baseline through stay two and three to evaluation stay as shown in table 1. The mean change between baseline and evaluation stay in gait assessments were the following: TUG -1.32 seconds, 10MWT –0.27 m/ seconds and 6MWT +68.71 meters. We found that the changes in two gait measures (TUG and 10MWT) exceeded the minimal detectable change values and therefore the changes are clinically meaningful. Our findings support Quinn et al (2013) work
There was an overall improvement in balance as shown in table 1. The mean change in BBS from baseline to evaluation stay was +1.0 (p<0.03). However, the ABC scale did not show any change from baseline to evaluation stay.
No change was observed in ADL-function as measured by Barthels Index.
Participants gained some weight during the project period, indicated by a change in BMI of 0.72 units (p<0.024) from baseline to evaluation stay.
Finally, we found that a larger proportion had initiated or established a long term coordinated health care plan,
The results of the present study show that participation in a structured intensive multidisciplinary rehabilitation program is associated with improved balance, gait function, physical quality of life and with reduced depressive and anxiety symptoms in patients with early to middle stage HD. Additionally, only one cognitive measure (SDMT) showed significant decline, and no decline was observed for the remaining cognitive measures. These results suggest beneficial effects of an intensive rehabilitation approach on symptom development of early to middle stage HD, and are in keeping with the findings reported by Zinzi et al (2007). Furthermore, adding additional outcome measures (quality of life, UHDRS-cognitive battery and gait assessments), has strengthened previous results in showing that physical quality of life is improved and that specific cognitive domains (psychomotor speed, executive function) overall show no significant decline. Our study accomplished considerably better retention with 31 out of 37 patients (83,8%) completing the full one year program, compared to Zinzi et al (2007) where only 25 of 40 patients (62,5%) completing the third rehabilitation period (first year of the study). Our study demonstrates that HD-patients are able to complete a structured rehabilitation program, and possible explanation for the high retention rate in our study could be planned effort to assist and maintain regular contact with the patients in between stays, and that financial expenses with participating in the program were covered by the health care system. Reasons for drop-out were disease progression, difficulties with transport to / from the rehabilitation facility, reduced ability to be tested due to factors such as severe depression as well as reduced test motivation. We found that an increased number of patients reported having, an Individual Plan, indicating that a larger number of patients have received established long term coordinated health care services.
From the start of the project, it was clear that this was part of patient health care quality assessment and improvement. This implied that after each stay, a comprehensive medical report was sent to the referring physician and other relevant allied health care personnel. The report clearly described the patients’ multidisciplinary needs, with a final medical report sent after completing the entire 1-year program. This may have contributed to a better understanding of the needs of the patients by their local health care personnel.
It is important to be aware of some methodological considerations of the project.
Strengths of this program include standardized protocols and systematically executed multidisciplinary approach, which had been carefully planned in terms of use of assessments, measurement points, aiming to have the same rater at both the baseline and final evaluation admission. The raters were trained and standardized and were experienced in their field. All patients had received a clinical diagnosis of HD, based on symptoms and known CAG repeat expansion, but we were unable to record the number of CAG repeats for the patients.
Taken together the present study supports previous results from Zinzi et al (2007) that an intensive multidisciplinary rehabilitation approach can be useful in the management and treatment of symptoms of early and middle stage HD. The study also shows the potential for good retention. Furthermore, in addition to functional outcomes, the present study seems to have contributed to increased establishment of long term and coordinated health care delivery for the participant. In Norway the positive effects of the study have resulted in the establishment of permanent rehabilitation services for HD patients. Whether and how long the observed beneficial effects can be sustained needs to be assessed with longer follow-up. Moreover, there is a need for randomized clinical trials to study the effect of multidisciplinary intensive rehabilitation intervention on progression of HD, and it is important to investigate which participants profit most from such intensive rehabilitation. The use of complex and long self-reported rating scales and long assessment batteries should be considered when planning future multidisciplinary rehabilitation studies and programs for patients with HD.
We do not know surely which component of the multidisciplinary approach is the most effective but it seems that the structured physical training/activities will have the greatest effects on patients with HD in early and middle stage. We hope that results from our study can contribute and inform care development for patients with HD. In the future, it would be interesting to investigate whether this type of intervention will result less need for supportive care in long-term since this was not in a scope our study. It would be interested to know if it is possible to gain similar positive results with a shorter intervention program for instance 2 x 3 weeks intervention versus 3 x 3 weeks intervention during 12 months included cost-benefit analysis. Economical evaluation of the intensive rehabilitation program is very interesting question but this was out of scope in our study. Future research is needed to evaluate of cost-benefit of intensive rehabilitation program among HD population with an appropriate study design.
Participation in multidisciplinary rehabilitation program seems to be beneficial for persons in early and middle stage Huntington’s disease.
A structured multidisciplinary rehabilitation program improves motor function and quality of life.
It is feasible for persons with HD to complete a yearlong intensive multidisciplinary rehabilitation program
There should be emphasis to establishment of long term and coordinated health care services for the HD patient
Authors declare no conflict of interests
Written informed consent was obtained from each patient in separately in both Rehabilitation sites in Tromsø and Vikersund
First of all we would like to thank the Norwegian Directorate of Health for their funding. We would like to thank all health care personnel in the Rehabilitation centers in Tromsø and Vikersund. Furthermore, we thank the Norwegian Huntington´s Disease association and the Norwegian National Center for Rare Diseases for their support and input in the planning of this study. Finally, we would like to express our gratitude to all HD patients and their family and caregivers, for participating in this intensive program.
Interclass correlation coefficients were calculated to assess the relative test –retest reliability. The ICC (2. k) was used (the two way random model of consistency), either a type 2, 1 single measure or a type 2. 2 average measure. For 6MWT and BBS the ICC single measure was used while the ICC (2.2) was used for 10 meter walk test and time up and go test because final scores for theses outcomes were based on average of 2 trials.