Search

Objective: Despite the prevalence of disability in low-and middle-income countries, the clinical skills of the rehabilitation workforce are not well described. We report health professionals’ perspectives on clinical skills in austere settings and identify context- specific gaps in workforce capacity. Methods: A cross-sectional pilot survey (Pakistan, Morocco, Nigeria, Malaysia) of health professionals working in rehabilitation in hospital and community settings. A situational-analysis survey captured assessment of clinical skills required in various rehabilitation settings. Responses were coded in a line-byline process, and linked to categories in domains of the International Classification of Functioning, Disability and Health (ICF). Results: Respondents (n = 532) from Pakistan 248, Nigeria 159, Morocco 93 and Malaysia 32 included the following: physiotherapists (52.8%), nurses (8.8%), speech (5.3%) and occupational therapists (8.5%), rehabilitation physicians (3.8%), other doctors (5.5%) and prosthetist/orthotists (1.5%). The 10 commonly used clinical skills reported were prescription of: physical activity, medications, transfer- techniques, daily-living activities, patient/carer education, diagnosis/screening, behaviour/cognitive interventions, comprehensive patient-care, referrals, assessments and collaboration. There was significant overlap in skills listed irrespective of profession. Most responses linked with ICF categories in activities/participation and personal factors. Conclusion: The core skills identified reflect general rehabilitation practice and a task-shifting approach, to address shortages of health workers in low-and middle-income countries. Key words: disability; rehabilitation

Breast cancer (BC) is the most common malignancy and a leading cause of morbidity and mortality in women worldwide. Therapeutic advances and improved survival rates of women with BC have implications for long-term impact on disability, psychological function and quality of life (QoL), which may be amenable to rehabilitation. The focus of rehabilitation is on managing disability, reducing sequelae and symptoms, and enhancing participation and societal reintegration, to achieve the highest possible independence and the best QoL. Rehabilitation interventions should be considered early for maintaining functional capacity and reducing the risk of losing important abilities or independence and should be individualized depending on disease phase, functional deficits, personal requirements and specific goals. A number of interventions have been trialled to support rehabilitation input for women with BC, which include physical therapy, psychological interventions (psychotherapy, cognitive behavioral training) and others. Multidisciplinary rehabilitation and uni-disciplinary interventions such as physical therapy have been shown to be beneficial in reducing disability, and improving participation and QoL. There is a need for comprehensive assessment of health domains in BC patients using a standardized framework and a common language for describing the impact of disease at different levels, using the International Classification of Functioning, Disability and Health core sets. This will provide more detailed information on the needs of these patients, so more efficient and targeted rehabilitation interventions can be provided.

The Cochrane Collaboration. Published by John Wiley & Sons, Ltd. This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effectiveness and safety of non-pharmacological therapies for the management of chronic pain in pwMS. Specific effectiveness questions to be addressed by this review include the following: Are non-pharmacological interventions (unidisciplinary and/or multidisciplinary rehabilitation) effective in reducing chronic pain in pwMS? What type of non-pharmacological interventions (unidisciplinary and/or multidisciplinary rehabilitation) are effective (least and most effective) and in what setting, in reducing chronic pain in pwMS?

The prevalence of disability due to neurological conditions is escalating worldwide. Neurological disorders have significant disability-burden with long-term functional and psychosocial issues, requiring specialized rehabilitation services for comprehensive management, especially treatments tapping into brain recovery 'neuroplastic' processes. Neurorehabilitation is interdisciplinary and cross-sectorial, requiring coordinated effort of diverse sectors, professions, patients and community to manage complex condition-related disability. This review provides evidence for a range of neurorehabilitation interventions for four common neurological conditions: multiple sclerosis (MS), stroke, traumatic brain injury and Parkinson's disease using the Grade of Recommendation, Assessment, Development and Evaluation tool for quality of evidence. Although, existing best-evidence for many interventions is still sparse, the overall findings suggest 'strong' evidence for physical therapy and psychological intervention for improved patient outcomes; and. 'moderate' evidence for multidisciplinary rehabilitation for longer term gains at the levels of activity (disability) and participation in MS and stroke population. The effect of other rehabilitation interventions is inconclusive, due to a paucity of methodologically robust studies. More research is needed to improve evidence-base for many promising rehabilitation interventions.

BACKGROUND AND PURPOSE: Pain is a common symptom associated with multiple sclerosis (MS), and has lasting effects on an individual's functional capacity and quality of life. A wide range of prevalence rates of pain (between 23% and 90% )have been reported in MS and this is mainly due to the methodological differences amongst the studies such as variability in patient sources, method of sampling and the definition of pain used. Chronic pain in MS, defined as pain lasting for greater than 3-6 months, can have a significant impact on their biopsychosocial health, including negative impact on activities of daily living, relationships and social participation. The long-term course of MS-related pain and its impact in an Australian cohort over a 7-year period has been investigated earlier. The aim of this longitudinal study was to describe the impact of chronic pain, pain-related disability and carer burden in persons with MS over a 10-year period. The aim of this longitudinal study was to describe the impact of chronic pain, pain-related disability and carer burden in persons with MS over a 10-year period. METHODS: This was a prospective longitudinal study conducted at the Rehabilitation Department of Royal Melbourne Hospital (RMH), a tertiary referral hospital in Victoria and Australia. The source of participants was from the RMH MS database and contains detailed MS patient information including demographic data, diagnosis details (using McDonald's criteria), pain characteristics. Structured face-face interviews and validated measures were used, which include the visual analogue scale (VAS); chronic pain grade (CPG); the assessment of quality of life (AQoL) and the carer strain index (CSI). The mean age of the participants (n=70) was 55.3 years and majority (70%) were female. RESULTS: The mean age of the participants (n=70) was 55.3 years and majority (70%) were female. The findings show that over time (10 years), participants report having greater bilateral bodily pain

This is a protocol for a Cochrane Review (Overview). The objectives are as follows: This review will systematically evaluate evidence from published Cochrane Reviews/meta analyses of clinical trials to determine the effectiveness and safety of rehabilitation interventions for the management of people with MS, in order to improve patient outcomes and will highlight current gaps in knowledge. Specific questions to be addressed by this review include the following. • Are rehabilitation interventions (unidisciplinary, or multidisciplinary, or both) effective in minimising impairment, activity limitation, and participation restriction in people with MS? • Are rehabilitation interventions (unidisciplinary, or multidisciplinary, or both) effective in minimising the burden of care and improving quality of life in people with MS? • What types of rehabilitation interventions (unidisciplinary, or multidisciplinary,or both) are effective in people with MS, and in which setting? The specific aim of the review is to compile evidence from published multiple Cochrane Reviews of interventions for people with MS into one accessible and coherent document to be used by clinicians, researchers, funding bodies, policy makers, and consumers to aid decision making and evidence implementation.

With increasing frequency of natural disasters, there has been greater focus recently on the importance and role of rehabilitation services in disaster management. In past disasters, rehabilitative needs were often neglected, with emphasis on acute response plans focused on saving lives and treating acute injuries. There was a lack of, or inadequate, rehabilitation-inclusive disaster response plans and rehabilitation services in many disaster-prone developing countries. The World Health Organization (WHO) Emergency Medical Team (EMT) initiative recognizes rehabilitation as an integral part of medical response and patient-centred care in disaster settings. Current developments under this initiative include: the development of minimum standards for rehabilitation in emergencies to allow rapid, professional, coordinated medical response by both national and international EMTs. These guidelines ensure that EMTs deliver effective and coordinated patient care during disasters and continuum of care beyond their departure. The aim is to strengthen national capacity, foster an environment of self-empowerment of EMTs and local health services, and work in rehabilitation within defined coordination mechanisms in disaster-affected areas. A brief overview of rehabilitation in natural disasters, highlighting current developments, challenges; and gaps in the implementation of WHO guidelines for Minimum Standards for Rehabilitation in Emergencies is discussed in order to improve care for victims of future disasters.

Advance care planning (ACP) is a process of reflection and communication of a person's future health care preferences, and has been shown to improve end-of-life (EOL) care for patients. The aim of this systematic review is to present an evidence-based overview of ACP in patients with primary malignant brain tumors (pmBT). A comprehensive literature search was conducted using medical and health science electronic databases (PubMed, Cochrane, Embase, MEDLINE, ProQuest, Social Care Online, Scopus, and Web of Science) up to July 2016. Manual search of bibliographies of articles and gray literature search were also conducted. Two independent reviewers selected studies, extracted data, and assessed the methodologic quality of the studies using the Critical Appraisal Skills Program's appraisal tools. All studies were included irrespective of the study design. A meta-analysis was not possible due to heterogeneity amongst included studies; therefore, a narrative analysis was performed for best evidence synthesis. Overall, 19 studies were included [1 randomized controlled trial (RCT), 17 cohort studies, 1 qualitative study] with 4686 participants. All studies scored "low to moderate" on the methodological quality assessment, implying high risk of bias. A single RCT evaluating a video decision support tool in facilitating ACP in pmBT patients showed a beneficial effect in promoting comfort care and gaining confidence in decision-making. However, the effect of the intervention on quality of life and care at the EOL were unclear. There was a low rate of use of ACP discussions at the EOL. Advance directive completion rates and place of death varied between different studies. Positive effects of ACP included lower hospital readmission rates, and intensive care unit utilization. None of the studies assessed mortality outcomes associated with ACP. In conclusion, this review found some beneficial effects of ACP in pmBT. The literature still remains limited in this area, with lack of

Objective: To examine factors impacting long-term functional and psychological outcomes in persons with moderate-severe traumatic brain injury. Methods: A prospective cross-sectional study (n = 103) assessed the long-term (up to 5 years) impact of traumatic brain injury on participants’ current activity and restriction in participation using validated questionnaires. Results: Participants’ median age was 49. 5 years (interquartile range (IQR) 20. 4–23. 8), the majority were male (77%), and 49% had some form of previous rehabilitation. The common causes of traumatic brain injury were falls (42%) and motor vehicle accidents (27%). Traumatic brain injury-related symptoms were: pain/headache (47%), dizziness (36%), bladder/bowel impairment (34%), and sensory-perceptual deficits (34%). Participants reported minimal change in their physical function and cognition (Functional Assessment Measure: motor (median 102, IQR 93–111) and cognition (median 89, IQR 78–95)). Participants were well-adjusted to community-living; however, they reported high levels of depression. Factors significantly associated with poorer current level of functioning/well-being included: older age (≥ 60 years), presence of traumatic brain injury-related symptoms, a lack of previous rehabilitation and those classified in “severe disability categories” at admission. Caregivers reported high levels of strain and burden (55%). Conclusion: Cognitive and psychosocial problems are more commonly reported than physical disability in the longer-term. A greater focus on participation and ageing with disability in these persons is needed.

Objective: To evaluate the implementation of a technology-assisted programme to intensify upper limb rehabilitation after stroke and other neurological conditions in an Australian community cohort. Methods: A “Hand Hub” was established in a tertiary hospital. Intervention was delivered via individual or group sessions for a period of up to 6 weeks, in addition to the patients’ regular therapy. Patients were assessed before and after the programme using validated measures. Results: A total of 92 participants completed both assessments (mean age 57 years (standard deviation 17 years), 58% male and 88% with stroke). Post-intervention, participants showed significant improvement in arm function and strength (p < 0. 001, effect sizes (r) = 0. 5–0. 7), streamlined Wolf Motor Function Test score (p < 0. 05, r = 0. 2–0. 4), improved muscle tone on the Modified Ashworth Scale (p < 0. 001, r = 0. 4), Functional Independence Measure (locomotion, mobility and psychosocial subscales (p < 0. 05, r = 0. 2–0. 3). Quality of life (EQ-5D) and overall health also improved significantly (p < 0. 01 for all, r = 0. 3–0. 6). Conclusion: The “Hand Hub” programme is feasible and showed promising results for upper limb function in persons with neurological disorders. The findings need to be further confirmed in a larger study sample, with a longer follow-up.

A wide range of telerehabilitation interventions are trialled in persons with multiple sclerosis (pwMS). However, the evidence for their effectiveness is unclear. Aim of the review was to systematically assess the effectiveness and safety of telerehabilitation intervention in pwMS, the types of approaches that are effective (setting, type, intensity) and the outcomes (impairment, activity limitation and participation) that are affected. The search strategy comprised: Cochrane Multiple Sclerosis and Rare Diseases of the Central Nervous System Review Group Specialised Register (up to 9 July, 2014). Relevant journals and reference lists of identified studies were screened for additional data. Selected studies included randomized and controlled clinical trials that compared telerehabilitation intervention/s in pwMS with a control intervention (such as lower level or different types of intervention, minimal intervention; waiting-list controls, no treatment or usual care; interventions given in different settings). Best evidence synthesis was based on methodological quality using the GRADEpro software. Nine RCTs (N.=531 participants, 469 included in analyses) investigated a variety of telerehabilitation interventions in adults with MS. The interventions evaluated were complex, with more than one rehabilitation component and included physical activity, educational, behavioural and symptom management programmes. All studies scored "low" on the methodological quality assessment. Evidence from included studies provides 'low-level' evidence for reduction in short-term disability (and symptoms) such as fatigue. There was also "low-level" evidence supporting telerehabilitation in the longer term for improved functional activities, impairments (such as fatigue, pain, insomnia); and participation. There were limited data on process evaluation (participants'/therapists' satisfaction) and no data available for cost effectiveness. There were no adverse events reported as a result of

BACKGROUND: Telerehabilitation, a service delivery model using telecommunications technology to provide therapy at a distance, is used in persons with multiple sclerosis (pwMS), but evidence for their effectiveness is yet to be determined. OBJECTIVE: To investigate the effectiveness and safety of telerehabilitation intervention pwMS. METHOD: A comprehensive literature search was conducted using medical and health science electronic databases. Three reviewers selected potential studies and independently assessed the methodological quality. A meta-analysis was not possible due to heterogeneity amongst included trials, and a qualitative analysis was performed for best evidence synthesis. RESULTS: Ten RCTs and 2 observational studies (n=564 participants) investigated a wide variety of telerehabilitation intervention in pwMS, which included: physical activity; educational, behavioural and symptom management programmes. All studies scored "low to moderate" on the methodological quality assessment implying high risk of bias. Overall, the review found low level evidence for the effectiveness of telerehabilitation on reducing short-term disability and reducing and/or improving symptoms, such as fatigue. There was low level evidence suggesting some benefit of telerehabilitation in improving functional activities; improving symptoms in the longer-term; and psychological outcomes and quality of life. There is limited data on safety, process evaluation and no data on cost-effectiveness of telerehabilitation. CONCLUSIONS: A wide range of telerehabilitation is used in pwMS, however, the quality of evidence on these interventions was low. More robust trials are needed to build evidence about these interventions.

Objective: To assess the effectiveness of an interdisciplinary ambulatory rehabilitation programme for persons with spina bifida in an Australian community cohort. Methods: Fifty-four participants randomized to a treatment group (n = 27) for a high-intensity rehabilitation programme (with cognitive behavioural therapy) or a control group (n = 27) comprising usual care. Outcome measures include: Disability: Urogenital Distress Inventory (UDI6), Incontinence Impact Questionnaire-7 (IIQ7), American Urological Association Symptom Index (AUA), Wexner-Faecal Incontinence Score (WFIS), Neurological Disability Scale (NDS); Participation: Depression, Anxiety Stress Scale (DASS), McGill Quality of Life (MQOL), Brief COPE Scale, Genera-lized Self-efficacy Scale (GSE). Assessments were made at baseline and 3-months post-intervention. Results: Adjusted for baseline disease and demographic covariates, the intervention group improved significantly at 3-month follow-up for primary and secondary outcomes, with moderate to large effect sizes (r): urinary/bowel dysfunction (AUA, UDI6, IIQ7, WFIS) (p < 0. 001 for all, r = 0. 4–0. 7); and cognitive function: NDS “cognitive” and “mood” (p < 0. 01, r = 0. 6 for both); DASS “depression”, “anxiety” and “stress” (p < 0. 001 for all, r = 0. 5–0. 7); MQOL total (p = 0. 013, r = 0. 5), “psychological symptoms” (p < 0. 001, r = 0. 8); “active coping” (p = 0. 035) and “self-efficacy” scores (GSE p < 0. 001). No difference between groups was noted in other subscales. Conclusion: Targeted rehabilitation can improve clinical outcomes in persons with spina bifida. Further research is needed for longer-term outcomes related to “ageing” and participation restriction.

OBJECTIVE: To provide an update on rehabilitation in Madagascar by using local knowledge to outline the potential barriers and facilitators for implementation of the World Health Organization (WHO) Disability Action Plan (DAP). METHODS: A 14-day extensive workshop programme (September-October 2014) was held at the University Hospital Antananarivo and Antsirabe, with the Department of Health Madagascar, by rehabilitation staff from Royal Melbourne Hospital, Australia. Attendees were rehabilitation professionals (n=29) from 3 main rehabilitation facilities in Madagascar, who identified various challenges faced in service provision, education and attitudes/approaches to people with disabilities. Their responses and suggested barriers/facilitators were recorded following consensus agreement, using objectives listed in the DAP. RESULTS: The barriers and facilitators outlined by participants in implementing the DAP objectives include: engagement of health professionals and institutions using a multi-sectoral approach, new partnerships, strategic collaboration, provision of technical assistance, future policy directions, and research and development. Other challenges for many basic policies included: access to rehabilitation services, geographical coverage, shortage of skilled work-force, limited info-technology systems; lack of care-models and facility/staff accreditation standards; limited health services infrastructure and "disconnect" between acute and community-based rehabilitation. CONCLUSION: The DAP summary actions were useful planning tools to improve access, strengthen rehabilitation services and community-based rehabilitation, and collate data for outcome research.

Fatigue is one of the most common symptoms of multiple sclerosis. Despite advances in pharmacological and non-pharmacological treatment, fatigue continues to be the disabling symptom in persons with MS (pwMS), affecting almost 80% of pwMS. In current practice, both pharmacological and non-pharmacological interventions are used in combination, encompassing a multi-disciplinary approach. The body of research investigating the effect of these interventions is growing. This review systematically evaluated the existing evidence on the effectiveness and safety of different interventions currently applied for the management of fatigue in person with multiple sclerosis in improving patient outcomes, to guide treating clinicians.

BACKGROUND AND PURPOSE: Urinary dysfunction is associated with significant morbidity in persons with Guillain-Barré Syndrome (GBS). The aim of this study was to describe prevalence and long-term impact of bladder dysfunction on daily activities and quality of life (QoL) in persons in chronic phase of GBS and to examine the relationships between commonly used continence measures in this cohort. METHODS: Prospective cohort (n=66) following GBS treatment (1996-2009) was recruited from a tertiary hospital and assessed using standardised measures for bladder dysfunction: American Urological Association (AUA) Symptom Index, Incontinence Impact Questionnaire, Urogenital Distress Inventory. RESULTS: Sixty-six participants (64% male, mean age 56 years, median disease duration of 6.1 years) completed the study. Of these more than half reported nocturia and one-third reported urinary urgency and frequency. Urinary problems impacted on participants' daily activities: physical recreation (21%), emotional health and mood (17%), entertainment (14%), participation and mobility (>30 min) (12%), and performance of household chores (8%). Since GBS, 49% reported interference of urinary symptoms with daily life to some extent; and adverse impact on QoL (10.6%). Significant relationship between bladder symptoms; and the level of urogenital distress (p<0.001) and the impact of urinary problems (p<0.001), was noted. Higher scores on the bladder scales showed significant correlations with psychological, functional and participation scales. The single QoL item (AUA scale) correlated significantly with all other bladder scales (rho=0.63-0.86). This can be a potential 'screening tool' to identify patients for further assessment. CONCLUSIONS: Bladder dysfunction in chronic phase of GBS is not well studied. More research in longer-term screening and outcomes for bladder intervention are needed for integrated care and to guide treating clinicians.

Background/Objectives. This pilot study evaluated the impact of a peer support program on improving multiple sclerosis (MS) related psychological functions (depression, anxiety, and stress) and enhancing quality of life. Methodology. Participants (n = 33) were recruited prospectively and received an 8-week group face-to-face peer support program. Assessments were at baseline (T1), 6 weeks after program (T2), and 12 months after program (T3), using validated questionnaires: Depression Anxiety Stress Scale (DASS), McGill Quality of Life (MQOL), and Brief COPE. Results. Participants' mean age was 52; the majority were female (64%) and married (64%). Median time since MS diagnosis was 16 years. At T2, participants reported improved psychological functioning (DASS "depression," "anxiety," and "stress" subscales, z values -2.36, -2.22, and -2.54, moderate effect sizes (r) 0.29, 0.28, and 0.32, resp.) and quality of life (MQOL SIS z score -2.07, r = 0.26) and were less likely to use "self-blame" as a coping mechanism (Brief COPE z score -2.37, r = 0.29). At T3, the positive improvements in stress (DASS stress subscale z score -2.41, r = 0.31) and quality of life were maintained (MQOL SIS, z score -2.30, r = 0.29). There were no adverse effects reported.

To examine factors impacting long-term functional outcomes and psychological sequelae in persons with primary brain tumours (BT) in an Australian community cohort. Participants (n = 106) following definitive treatment for BT in the community were reviewed in rehabilitation clinics to assess impact on participants' current activity and restriction in participation, using validated questionnaires: Functional Independence Measure (FIM), Perceived Impact Problem Profile (PIPP), Depression Anxiety Stress Scale, Cancer Rehabilitation Evaluation System-Short Form and Cancer Survivor Unmet Needs Measure. Mean age of the participants was 51 years (range 21-77 years), majority were female (56 %) with median time since BT diagnosis 2.1 years and a third (39 %) had high grade tumours. Majority showed good functional recovery (median motor FIM score 75). Over half reported pain (56 %), of which 42 % had headaches. Other impairments included: ataxia (44 %), seizures (43 %); paresis (37 %), cognitive dysfunction (36 %) and visual impairment (35 %). About 20 % reported high levels of depression, compared with only 13 % in an Australian normative sample. Two-third (60 %) participants reported highest impact on the PIPP subscales for psychological wellbeing (scores of >3 on 6-point scale) and participation (45 %). Factors significantly associated with poorer current level of functioning and wellbeing included: younger participants (≤40 years), recent diagnoses, aggressive tumour types and presence of pain. No significant differences in scale scores were found across various treatments (surgery, chemotherapy or radiotherapy) on outcomes used. Rehabilitation for BT survivors is challenging and requires long-term management of psychological sequelae impacting activity and participation. More research into participatory limitation is needed to guide treating clinicians.

BACKGROUND: Multiple trauma is a cause of significant disability in adults of working age. Despite the implementation of trauma systems for improved coordination and organization of care, rehabilitation services are not yet routinely considered integral to trauma care processes. METHODS: MEDLINE, Embase, Cumulative Index to Nursing and Allied Health Literature, Allied and Complementary Medicine, Physiotherapy Evidence Database, Latin American and Caribbean Literature on Health Sciences and Cochrane Library databases were searched up to May 2011 for randomized clinical trials, as well as observational studies, reporting outcomes of injured patients following multidisciplinary rehabilitation that addressed functional restoration and societal reintegration based on the International Classification of Functioning, Disability and Health. RESULTS: No randomized and/or controlled clinical trials were identified. Fifteen observational studies involving 2386 participants with injuries were included. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach assessed methodological quality as 'poor' in all studies, with selection and observer bias. Although patients with low functional scores showed improvement after rehabilitation, they were unable to resume their pretrauma level of activity. Their functional ability was significantly associated with motor independence on admission and early acute rehabilitation, which contributed to a shorter hospital stay. Injury location, age, co-morbidity and education predicted long-term functional consequences. Trauma care systems were associated with reduced mortality. The gaps in evidence include: rehabilitation settings, components, intensity, duration and types of therapy, and long-term outcomes for survivors of multiple trauma. CONCLUSION: Rehabilitation is an expensive resource and the evidence to support its justification is needed urgently. The issues in study design and research methodology in rehab

Multiple sclerosis (MS) is an autoimmune inflammatory demyelinating disease of the central nervous system and a major cause of chronic neurological disability in young adults. Primary progressive MS (PPMS) constitutes about 10% of cases, and is characterized by a steady decline in function with no acute attacks. The rate of deterioration from disease onset is more rapid than relapsing remitting and secondary progressive MS types. Multiple system involvement at onset and rapid early progression have a worse prognosis. PPMS can cause significant disability and impact on quality of life. Recent studies are biased in favour of relapsing remitting patients as treatment is now available for them and they are more likely to be seen at MS clinics. Since prognosis for PPMS is worse than other types of MS, the focus of rehabilitation is on managing disability and enhancing participation, and application of a "neuropalliative" approach as the disease progresses. This chapter presents the symptomatic treatment and rehabilitation for persons with MS, including PPMS. A multidisciplinary approach optimizes the intermediate and long-term medical, psychological and social outcomes in this population. Restoration and maintenance of functional independence and societal reintegration, and issues relating to quality of life are addressed in rehabilitation processes.

Pandgt;Background Cutaneous melanoma is rapidly increasing in incidence worldwide and approximately 5% of melanomas are hereditary. Deletions in chromosome 1p36 have been detected in melanoma but no candidate melanoma tumour suppressor gene has yet been found in this area. Recently, strong evidence has been reported that CHD5 is a tumour suppressor gene in this region. Objectives To investigate CHD5 involvement in familial melanoma. Methods Peripheral blood DNA from 47 melanoma families who do not carry mutations in any of the three currently recognized melanoma genes, 398 patients with sporadic melanoma and 398 geographically matched nonmelanoma-bearing controls were studied. Linkage investigation, single nucleotide polymorphism (SNP) genotyping and mutation screening studies were carried out on the CHD5 locus. Results The CHD5 gene was not excluded by linkage analysis in any of the families. On SNP genotyping, the CHD5 rs7513548 SNP was found to be significantly associated with sporadic melanoma (odds ratio 1 center dot 53, 95% confidence interval 1 center dot 13-2 center dot 06). The AG genotype was found in 208 cases and 169 controls (cf. 141 and 175 cases and controls, respectively, for the AA genotype). On CHD5 mutation screening, a total of 50 single-base substitutions were detected. Of these, 39 were intronic and 11 were exonic. While 32 were previously recognized variants, 18 were newly identified. Three, in exons 4, 31 and 32, led to nonsynonymous substitutions. A p.Met1576Ile substitution was identified in a mother and daughter, both with invasive cutaneous melanoma. Conclusions This study appears to be the first report of CHD5 variants in familial cutaneous melanoma. Such CHD5 variants could block or alter the ability of CHD5 to regulate the cell cycle pathway and to effect cellular control. As only one of the 47 families studied has this variant, it appears to be a rare event and further screening of melanoma families is required to confirm whether or n