Quality of life, functioning and participation of adult patients with an amputation following complex regional pain syndrome I or brachial plexus injury: a scoping review protocol.

INTRODUCTION: This planned scoping review aims to provide insight into current literature regarding perceived quality of life (QoL), functioning and participation of patients with upper limb amputations (ULA) because of therapy-resistant debilitating complex regional pain syndrome type I (CRPS-I) or brachial plexus injury (BPI). It is important to gain insight into these outcomes, so we can properly inform and select patients eligible for amputation. METHODS AND ANALYSIS: Joanna Briggs Institute methodology for scoping reviews, Systematic Reviews and Meta-Analyses Scoping Reviews guidelines and Arksey and O'Malley's framework will be used. Studies regarding adult patients with either BPI or CRPS-I who underwent ULA will be considered for inclusion. Studies should include one or more of the following topics: QoL, functioning or participation and should be written in English, German or Dutch. Searches will be conducted in the Cochrane database, PubMed, EMBASE and Google Scholar. Search strings will be provided by a licenced librarian. All relevant literatures will be considered for inclusion, regardless of published date, in order to give a full scope of available literature. Studies will be selected first by title, then abstract and finally by full article by two reviewers who will discuss after every round. A third reviewer will make final decisions to reach consensus if needed. Data will be presented as brief summaries and in tables using a modified data extraction table. ETHICS AND DISSEMINATION: No ethical approval is required since no original data will be collected. Results will be disseminated through publication in a peer-reviewed journal and presentations at (inter)national conferences.

Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.

OBJECTIVES: We aimed to estimate the age-related risk of ALS in first-degree relatives of patients with ALS carrying the C9orf72 repeat expansion. METHODS: We included all patients with ALS carrying a C9orf72 repeat expansion in The Netherlands. Using structured questionnaires, we determined the number of first-degree relatives, their age at death due to ALS or another cause, or age at time of questionnaire. The cumulative incidence of ALS among first-degree relatives was estimated, while accounting for death from other causes. Variability in ALS risk between families was evaluated using a random effects hazards model. We used a second, distinct approach to estimate the risk of ALS and FTD in the general population, using previously published data. RESULTS: In total, 214 of the 2,486 (9.2%) patients with ALS carried the C9orf72 repeat expansion. The mean risk of ALS at age 80 for first-degree relatives carrying the repeat expansion was 24.1%, but ranged between individual families from 16.0 to 60.6%. Using the second approach, we found the risk of ALS and FTD combined was 28.7% (95% CI 17.8%-54.3%) for carriers in the general population. CONCLUSIONS: On average, our estimated risk of ALS in the C9orf72 repeat expansion was lower compared to historical estimates. We showed, however, that the risk of ALS likely varies between families and one overall penetrance estimate may not be sufficient to describe ALS risk. This warrants a tailor-made, patient-specific approach in testing. Further studies are needed to assess the risk of FTD in the C9orf72 repeat expansion.

Participation in sports of Dutch children with lower limb deficiencies.

PURPOSE: The primary aim was to describe sports participation of Dutch children and adolescents with lower limb deficiencies (LLD). The secondary aim was to explore perceived limitations concerning sports participation. METHODS: A total of 103 children and adolescents with LLD, aged 8-18 years (mean 11.7 years), were asked about their sports participation using a study-specific self-report questionnaire. RESULTS: Children and adolescents with LLD frequently (78%) participated in sports activities, and most of them (68%) participated in the sport of their preference. Just over half of all children (52%) perceived an inability to participate in specific sports. Physical performance (running) and endurance were mentioned as the most limiting factors in participating in certain sports. CONCLUSION: Children and adolescents with LLD in the Netherlands participate in a variety of sports. Despite dependency on lower limb prostheses in most cases, children and adolescents with LLD have a high potentiality of participating in sports.

Opinions on rehabilitation care of young adults with transversal upper limb reduction deficiency in their transition to adulthood.

PURPOSE: Young adults with transversal upper limb reduction deficiency experience limitations regarding education, employment and obtaining a driver's license. Contribution of rehabilitation care within these domains has been reported to be inadequate. This study evaluates the needs and suggestions of participants in rehabilitation care. METHODS: Two online focus groups with young adults and parents met during 4 consecutive days. Health care professionals joined a face-to-face focus group. Data analysis was based on framework analysis. RESULTS: The rehabilitation team was mainly consulted for problems with residual limb or for prostheses. Young adults and their parents were mostly unaware of resources regarding education, job selection or obtaining a driver's license. Professionals stated that these subjects were addressed during periodic appointments. Young adults didn't always attend these appointments due to limited perceived benefit. To improve rehabilitation care, participants suggested methods for providing relevant information, facilitating peer contact and offering dedicated training programs to practice work-related tasks, prepare for job interviews or enhance self-confidence. CONCLUSION: Periodic appointments do not fulfil needs of young adults with transversal upper limb reduction deficiency. To improve care, rehabilitation teams should offer age-relevant information, share peer stories, and create dedicated training programs.

Effectiveness of a crossover prosthetic foot in active children with a congenital lower limb deficiency: an explorative study.

BACKGROUND: Children with lower limb prostheses cannot always keep up with their peers during active play. A pediatric crossover foot may be a promising prosthetic alternative for children engaging in high-intensity movements necessary for active play. OBJECTIVES: To compare children's walking performance, running performance, experienced competence, and cosmesis using their prescribed prosthesis compared with the crossover foot. STUDY DESIGN: Pretest-posttest study. METHODS: Children with lower limb amputation or deficiency were recruited. Measurements were taken at baseline with the prescribed prosthesis and 6 weeks later with the crossover foot. Walking speed, energy cost of walking, anaerobic muscle power, stair climbing speed, ankle power, and cosmesis were evaluated. RESULTS: Four children participated in the study. Two children had increased walking speed with the same energy cost, one child had decreased speed with increased energy cost, and one child had the same speed with decreased energy cost. Muscle power increased for three of the four children and ankle power increased for all children while using the crossover foot compared to the prescribed prosthesis. Two children reported knee pain or feeling excessive knee flexion when running with the crossover foot. One child reported negative feelings toward cosmesis of the crossover foot. CONCLUSIONS: This study suggests crossover foot may benefit active children by improving walking and running performance, and decreasing energy cost. However, knee pain reports or negative feelings toward the atypical design suggest the crossover foot may not be ideal for every child. Further research is needed to determine which pediatric users would benefit from this type of prosthetic foot. CLINICAL RELEVANCE: Children with lower limb deficiencies are active prosthetic users who often switch between low- and high-intensity movements in their daily activities. Therefore, they might benefit from a crossover prosthetic design. The preliminary findings of this study suggest the crossover foot (XF) may be a promising foot for active children.

Amputation and rotationplasty in children with limb deficiencies: current concepts.

PURPOSE: Amputations and fitting surgery have a long history in children with limb deficiencies. With the current developments in limb reconstruction and new techniques in prosthetics, the indications for amputation and fitting surgery might have shifted, but still have a very important role in creating high functional performance, optimal participation and quality of life. The purpose of this current concepts article is to give an overview of the indications, dilemmas and technical considerations in the decision-making for amputation and fitting surgery. A special part of this overview is dedicated to the indications, variations and outcomes in rotationplasties. METHODS: The article is based on the experience of a multidisciplinary reconstruction team for children with complex limb deficiencies, as well as research of the literature on the various aspects that cover this multidisciplinary topic. RESULTS: For those children with a more severe limb deficiency, reconstruction is not always feasible for every patient. In those cases, amputation with prosthetic fitting can lead to a good result. Outcomes in quality of life and function do not significantly differ from the children that had reconstruction. For children with a postaxial deficiency with a femur that is too short for lengthening, and with a stable ankle and foot with good function, rotationplasty offers the best functional outcome. However, the decision-making between the different options will depend on different individual factors. CONCLUSIONS: Amputations and rotationplasties combined with optimal prosthesis fitting in children with more severe limb deficiencies may lead to excellent short- and long-term results. An experienced multidisciplinary team for children with complex limb deficiencies should guide the patient and parents in the decision-making between the different options without or with prosthesis.

Adaptive devices in young people with upper limb reduction deficiencies: Use and satisfaction.

OBJECTIVE: To evaluate use of, satisfaction with, and social adjustment with adaptive devices compared with prostheses in young people with upper limb reduction deficiencies. METHODS: Cross-sectional study of 218 young people with upper limb reduction deficiencies (age range 2-20 years) and their parents. A questionnaire was used to evaluate participants' characteristics, difficulties encountered, and preferred solutions for activities, use satisfaction, and social adjustment with adaptive devices vs prostheses. The Quebec User Evaluation of Satisfaction with assistive Technology and a subscale of Trinity Amputation and Prosthesis Experience Scales were used. RESULTS: Of 218 participants, 58% were boys, 87% had transversal upper limb reduction deficiencies, 76% with past/present use of adaptive devices and 37% with past/present use of prostheses. Young people (> 50%) had difficulties in performing activities. Of 360 adaptive devices, 43% were used for self-care (using cutlery), 28% for mobility (riding a bicycle) and 5% for leisure activities. Prostheses were used for self-care (4%), mobility (9%), communication (3%), recreation and leisure (6%) and work/employment (4%). The preferred solution for difficult activities was using unaffected and affected arms/hands and other body parts (> 60%), adaptive devices (< 48%) and prostheses (< 9%). Satisfaction and social adjustment with adaptive devices were greater than with prostheses (p < 0.05). CONCLUSION: Young people with upper limb reduction deficiencies are satisfied and socially well-adjusted with adaptive devices. Adaptive devices are good alternatives to prostheses.

Opinions of youngsters with congenital below-elbow deficiency, and those of their parents and professionals concerning prosthetic use and rehabilitation treatment.

BACKGROUND: Youngsters with unilateral congenital below-elbow deficiency (UCBED) seem to function well with or without a prosthesis. Reasons for rejecting prostheses have been reported earlier, but unfortunately not those of the children themselves. Furthermore, reasons for acceptance are underexplored in the literature. OBJECTIVES: To investigate opinions of children and early and late adolescents with UCBED, and those of their parents and healthcare professionals, concerning (1) reasons to wear or not to wear prostheses and (2) about rehabilitation care. METHODS: During one week of online focus group interviews, 42 children of 8-12 y/o, early and late adolescents of 13-16 and 17-20 y/o, 17 parents, and 19 healthcare professionals provided their opinions on various topics. This study addresses prosthetic use or non-use of prosthetics and rehabilitation care. Data were analyzed using the framework approach. RESULTS: Cosmesis was considered to be the prime factor for choosing and wearing a prosthesis, since this was deemed especially useful in avoiding stares from others. Although participants functioned well without prostheses, they agreed that it was an adjuvant in daily-life activities and sports. Weight and limited functionality constituted rejection reasons for a prosthesis. Children and adolescents who had accepted that they were different no longer needed the prosthesis to avoid being stared at. The majority of participants highly valued the peer-to-peer contact provided by the healthcare professionals. CONCLUSIONS: For children and adolescents with UCBED, prostheses appeared particularly important for social integration, but much less so for functionality. Peer-to-peer contact seemed to provide support during the process of achieving social integration and should be embedded in the healthcare process.

Long-term functional outcome of patients with longitudinal radial deficiency: cross-sectional evaluation of function, activity and participation.

PURPOSE: To evaluate all functional aspects of patients with longitudinal radial dysplasia and to clarify the relationship between body functions on the one hand and limitations in activity and participation on the other hand. METHODS: Thirty-one arms of seventeen adult patients with longitudinal radial dysplasia were analysed. Body function was assessed by measuring grip and pinch strength and active range of motion (ROM) of the hand. Activities were measured using the "Sequential Occupational Dexterity Assessment ", to measure perceived restrictions in participation the "Impact on Participation and Autonomy questionnaire" was used. Relationships between severity of dysplasia, body function, participation and activity were determined. RESULTS: Patients with a severe type scored significantly lower in body function scores than patients with a mild form. Patients with limited active finger joint motion performed worse on activities. We found no significant differences in activity and participation between mild or severe types and found no correlation in participation scores. CONCLUSION: Although considerable restrictions in joint mobility and strength were revealed, little or no limitations on the activity and participation level were found. Limitations in body functions hardly influenced capacity on activity level and did not influence participation in societal roles.

Activity and participation of children and adolescents with unilateral congenital below elbow deficiency: an online focus group study.

OBJECTIVE: To assess whether children/adolescents with unilateral congenital below elbow deficiency experience activity or participation limitations and how they deal with those limitations. METHODS: A qualitative study using online focus group interviews was held with 42 children/adolescents (in 3 age groups: 8-12, 13-16, and 17-20 years), 17 parents and 19 health professionals. Questions were posted concerning activities, participation, prosthetic use, psychosocial functioning, and rehabilitation care. This study concerns the first two topics; activities and participation. RESULTS: Children/adolescents experienced only a few limitations, and there were no activities or participation situations that were impossible. The limitations experienced could be attributed mainly to environmental factors, e.g. people who lack knowledge of the child's capacities. Those factors were particularly decisive in transition phases. Children/adolescents and parents described numerous strategies applied to deal with the deficiency. Professionals described fewer strategies and emphasized the use of adaptive devices and prostheses more than other participants did. CONCLUSION: Having unilateral congenital below elbow deficiency did not interfere with any activity, but not all children/adolescents had the ability to perform all activities. The strategies described by children/adolescents in managing their deficiency should be integrated into healthcare by providing realistic education about the various creative solutions and possibilities of adaptive devices and prostheses, and should be combined with specific training.

Mixed feelings of children and adolescents with unilateral congenital below elbow deficiency: an online focus group study.

The existing literature is inconsistent about the psychosocial functioning of children and adolescents with Unilateral Congenital Below Elbow Deficiency (UCBED). The objective of this qualitative study was to explore the psychosocial functioning of children and adolescents with UCBED in terms of their feelings about the deficiency and what helps them to cope with those feelings. Additionally, the perspectives of prosthesis wearers and non-wearers were compared, as were the perspectives of children, adolescents, parents and health professionals. Online focus group interviews were carried out with 42 children and adolescents (aged 8-12, 13-16 and 17-20), 16 parents and 19 health professionals. Questions were asked about psychosocial functioning, activities, participation, prosthetic use or non-use, and rehabilitation care. This study concerned remarks about psychosocial functioning. Children and adolescents with UCBED had mixed feelings about their deficiency. Both negative and positive feelings were often felt simultaneously and mainly depended on the way people in the children's environment reacted to the deficiency. People staring affected the children negatively, while support from others helped them to cope with the deficiency. Wearing a prosthesis and peer-to-peer contact were also helpful. Non-wearers tended to be more resilient than prosthesis wearers. Wearers wore their prosthesis for cosmetic reasons and to prevent them from negative reactions from the environment. We recommend that rehabilitation teams make parents aware of their great influence on the psychosocial functioning of their child with UCBED, to adjust or extend the currently available psychosocial help, and to encourage peer-to-peer contact.

Participation and health-related quality of life of Dutch children and adolescents with congenital lower limb deficiencies.

OBJECTIVES: To describe participation and health-related quality of life of Dutch children and adolescents with congenital lower limb deficiencies in comparison with typically developing children, and to explore differences between various degrees of limb loss and between parental reports and self-reports on health-related quality of life. DESIGN: Cross-sectional study. METHODS: Participation was assessed with the Children's Assessment of Participation and Enjoyment questionnaire, and health-related quality of life with the KIDSCREEN-52 questionnaire, both as parental reports and self-reports, for 56 children and adolescents with congenital lower limb deficiencies, aged 8-18 years. RESULTS: Participation and health-related quality of life of children and adolescents with lower limb deficiencies (age range 8-18 years) did not differ from those of the reference group, except that the adolescents with lower limb deficiencies (age range 12-18 years) reported significantly (p < 0.05) less diversity and lower intensity of social and skill-based activities. Degree of limb loss did not affect participation or health-related quality of life. Differences (p < 0.05) between parental reports and self-reports for health-related quality of life were found for the "physical well-being", "moods and emotions" and "self-perception" domains. While parental reports were comparable to the adolescents' self-ratings, parents reported lower health-related quality of life in the "moods and emotions", "self-perception" and "autonomy" domains for their younger children. CONCLUSION: While the participation and perceived health-related quality of life of Dutch children with lower limb deficiencies do not differ from those among typically developing children, the participation of adolescents with lower limb deficiencies is characterized by less diversity, with less interaction in social and skill-based activities.

Participation and quality of life in children and adolescents with congenital limb deficiencies: A narrative review.

Children and adolescents with congenital limb deficiencies are visibly and physically different from their peers. They present limitations in activities, depending on the severity of deficiency. Therefore they are at risk for lower participation in social and leisure activities. This might negatively influence the perception on their quality of life. The aim of this narrative review is to describe participation and quality of life in children with congenital limb deficiencies. Participation and quality of life are relatively new concepts. Psychosocial functioning, being closely related to the concept of quality of life, is described as well. A comprehensive review of the literature was conducted on participation, quality of life and psychosocial functioning in children and adolescents with congenital limb deficiencies. The review involved a systematic search using multiple data sources. Fifteen cross-sectional studies were included in this review. The literature to date provides limited knowledge on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. The psychosocial functioning, although described as at risk, appears to be comparable to healthy peers. In conclusion, more research is needed on how children and adolescents with congenital limb deficiencies participate and how they perceive their quality of life. A broader perspective will not only help parents in making the right choices for their children, but can also have implications for health care providers, teachers and agencies funding rehabilitation services.

Large subcortical infarcts: clinical features, risk factors, and long-term prognosis compared with cortical and small deep infarcts.

BACKGROUND AND PURPOSE: In this study we compared risk factors, clinical features, and stroke recurrence in a large series of patients with large subcortical, cortical, or small deep infarcts. METHODS: Patients with a transient or minor ischemic attack (modified Rankin Scale grade of < or =3) who had a single relevant supratentorial infarct of presumed noncardioembolic origin on CT were classified as suffering from a large subcortical (n=120), small deep (n=324), or cortical (n=211) infarct. Mean follow-up was 8 years. Rates of recurrent stroke were compared with Cox regression. RESULTS: The clinical deficits caused by large subcortical infarcts resembled either those of a cortical or those of a small deep infarct. Risk factor profiles were similar in the 3 groups. The rate of recurrent stroke in patients with a large subcortical infarct (25/120; 21%) did not differ from that of patients with a cortical infarct (46/211; 22%) or with a small deep infarct (60/324; 19%). After adjustment for age, sex, and vascular risk factors, hazard ratios for recurrent stroke of large subcortical and cortical infarcts were 1.05 (95% CI, 0.65 to 1.70) and 1.17 (95% CI, 0.79 to 1.73), respectively, compared with small deep infarcts. CONCLUSIONS: Clinical features, risk factor profiles, and stroke recurrence rate in patients with a large subcortical infarct only differ slightly from those in patients with small deep or cortical infarcts.

Change in mobility activity in the second year after stroke in a rehabilitation population: who is at risk for decline?

OBJECTIVES: To investigate the development of mobility status during the second year after stroke in patients who had had inpatient rehabilitation, and to evaluate risk factors for mobility decline. DESIGN: Evaluation of change in Rivermead Mobility Index (RMI) score over the second year after stroke in an inception cohort of first-ever stroke patients eligible for inpatient rehabilitation. Logistic regression techniques were used to predict decline. Independent variables were measured with standardized instruments 1 year after stroke. SETTING: Home or institution, after discharge from rehabilitation center. PARTICIPANTS: Patients (N=148) with single first-ever stroke (supratentorial), age more than 18 years. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Decline of 2 or more points on the RMI and the percentages and odds ratios (ORs) for decline. RESULTS: The mean RMI score did not significantly change over time. Mobility declined in 12% of the patients. Mobility decline was found more often in patients with depression (25%) than without (7%), with right-sided weakness (17% vs 8%), with ischemic stroke (13% vs 8%), with aphasia (22% vs 11%), with cognitive dysfunction (17% vs 11%), with comorbidity interfering with locomotion (25% vs 12%), with poor social functioning (15% vs 10%), and with mobility disability (16% vs 8%). Statistical significance was found only for depression (OR=4.2; 95% confidence interval, 1.3-13.2). CONCLUSIONS: Most patients maintained the level of mobility they achieved during inpatient rehabilitation over the second year after stroke. Only 12% had a decline in mobility, and depression was the only statistically significant predictor for decline.

Susceptibility to deterioration of mobility long-term after stroke: a prospective cohort study.

BACKGROUND AND PURPOSE: The aim of the present study was to identify clinical determinants able to predict which individuals are susceptible to deterioration of mobility from 1 to 3 years after stroke. METHODS: Prospective cohort study of stroke patients consecutively admitted for inpatient rehabilitation. A total of 205 relatively young, first-ever stroke patients were assessed at 1 and 3 years after stroke. Mobility status was determined by the Rivermead Mobility Index (RMI), and decline was defined as a deterioration of > or =2 points on the RMI. Univariate and multivariate logistic regression analyses were performed to identify prognostic factors for mobility decline. The discriminating ability of the model was determined using a receiver operating characteristic curve. RESULTS: A decline in mobility status was found in 21% of the patients. Inactivity and the presence of cognitive problems, fatigue, and depression at 1 year after stroke were significant predictors of mobility decline. The multivariate model showed a good fit (Hosmer-Lemeshow test P>0.05), and discriminating ability was good (area under the curve 0.79). CONCLUSIONS: Mobility decline is an essential concern in chronic stroke patients, especially because it might lead to activities of daily living dependence and affects social reintegration. Early recognition of prognostic factors in patients at risk may guide clinicians to apply interventions aimed to prevent deterioration of mobility status in chronic stroke.