A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature

Angelman syndrome is a rare genetic disease affecting the central nervous system and neurobehavioral development causing severe mental, linguistic, and physical disabilities. The purpose of this review was to analyze the most recent evidence regarding the rehabilitation of subjects affected by this syndrome. The review was carried out in accordance with the preferred reporting items for systematic reviews and meta-analyses. A total of 3661 studies were identified in the databases. Once the inclusion/exclusion criteria were applied, 15 studies were considered for the paper’s preparation. The level of evidence of the studies was established according to the criteria of the Oxford Center for Evidence-Based Medicine—Levels of Evidence. From the selected studies, five rehabilitative approaches emerged: physiotherapy, applied behavioral analysis, toilet training, microswitch-cluster technology, and augmentative and alternative communication. Although the studies did not have a high level of evidence, the reported results appear to be encouraging and pave the way for further studies. It seems that individualized and multidisciplinary rehabilitation interventions help to improve patients’ autonomy and quality of life. In some studies, the caregivers’ role was fundamental to identify preferences and long-term improvements. Further studies on larger populations and with better methodological quality are needed to confirm the results

Tendinopathies of the hip and pelvis in athletes: A narrative review

Tendon disorders represent some of the most frequent musculoskeletal complaints worldwide. In the athletic population, tendinopathy could affect different anatomical districts. Tendons surrounding hip and pelvis are frequently involved due to overuse and high functional demands in the athletes. These disorders negatively impact on sport performance, since they are a long-lasting clinical condition requiring a multimodal management. Great trochanter pain syndrome, proximal hamstring tendinopathy, insertional adductor tendinopathy and ileopsoas tendinopathy are the most common clinical conditions involving tendon structures of the hip and pelvis. Due to the anatomical complexity of the region, the relationship with pelvic organs, the demographic and anthropometric characteristics of the athletes, the differential diagnosis between these musculoskeletal disorders and other diseases is often difficult to conduct and some therapeutic options are challenging. Modification of risk factors, changes in training protocols, some specific therapeutic exercise programs and rehabilitation procedures have been proposed as an efficient conservative management strategy, guarantying a complete recovery of athletic function. Surgical approaches are required in a specific subset of patients. This narrative literature review aims to summarize current understanding and areas of ongoing research about the clinical features, diagnostic keys and therapeutic options of the main clinical tendinopathies surrounding hip and pelvis

Supervised Physical Therapy and Polymyositis/Dermatomyositis—A Systematic Review of the Literature

Objective: to find the most up-to-date evidence of the effectiveness and safety of supervised physical therapy in polymyositis/dermatomyositis patients. Methods: a systematic review of the literature in the main scientific databases was carried out. We searched for randomized controlled trials concerning supervised physical therapy and polymyositis/dermatomyositis. The PICOS method was used for the formulation of the clinical query. Methodological quality and the level of evidence of the included studies were assessed using the modified Jadad scale and the Oxford Centre for Evidence-Based Medicine Levels of Evidence guide, respectively. Results: a total of 2591 articles were found. By applying the inclusion/exclusion criteria, six randomized controlled clinical trials were admitted to the final phase of the review. The compared approaches concerned supervised exercise programs based on strategies of muscle strengthening or aerobic work. Following these exercises, an increase in the maximum rate of oxygen consumption, a decrease in creatine phosphokinase levels, an enhancement in the patient’s aerobic performance and an improvement in the quality of life indexes were registered. The methodological quality of the included studies ranged from 3 to 4.5. All the studies were classified as presenting an evidence level of 2b. Conclusions: supervised physical therapy in polymyositis/dermatomyositis is an effective, safe and free-of-contraindications tool to be used both in the acute and in the established phases of the pathology. However, further and higher-quality studies are necessary to confirm those findings, to clarify the timing of exercise delivery and to guide the choice towards different types of muscle contraction exercises

Evidence-Based Practice in Rehabilitation of Myasthenia Gravis. A Systematic Review of the Literature

Myasthenia gravis is a rare neuromuscular disorder characterized by muscle weakness and fatigue. This review analyzes the most recent evidence regarding the effectiveness and safety of different rehabilitative approaches to the disease. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 365 articles were found in the main scientific databases. Applying the inclusion/exclusion criteria, 11 studies were admitted to the final phase of the review. Three different rehabilitative approaches were identified: physical training, respiratory training, and balance training. All rehabilitative modalities contributed to enhancing functional outcomes, reducing fatigue, and improving quality of life, but currently none can be recommended over another for the lack of cross-comparative studies. The included studies showed methodological quality from low to fair. Despite the range of rehabilitative interventions available, there is a lack of high-quality evidence. However, this review suggests that a multidisciplinary rehabilitation approach should be recommended to people with myasthenia gravis, and above all, for those with mild to moderate symptomatology

Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature

Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. As of today, enzymere placement therapy represents the main therapeutic tool for PD. Rehabilitation is an integral part of a multidisciplinary approach to this pathology. The goal of the present review is to find scientific evidence for the rehabilitative approach to PD, with respect to both the infantile- and adult-onset forms. A systematic literature review was made using the following databases: Pubmed, Pedro, Cochrane Library, EDS Base Index, Trip, and Cinhal. Randomized controlled trials or cohort studies with a sample population of at least six subjects were retrieved. The PICO method was used to formulate the clinical query. The search resulted in 1665 articles. Of these, four cohort studies were subjected to the final phase of the review. Three studies regarded inspiratory muscle training with a threshold, while the fourth study analyzed the effectiveness of therapeutic, aerobic, and reinforcement exercises. Inspiratory muscle training with a threshold increases the pressures generated during inhalation. Aerobic exercise is capable of increasing patients’ muscular endurance and performance. To date, however, rehabilitative treatment for patients with PD has no validation in evidence-based medicine. Further studies, possibly with a larger sample size and higher quality are necessary to confirm the effectiveness of rehabilitation in patients with PD

Clinical risk in rehabilitation: an exploratory investigation in Campania Region

BACKGROUND: Clinical risk management is a comprehensive programme that encompasses all the measures implemented to improve the quality of the healthcare service and ensure patient safety, which is based on learning through error. This process is intended to bring about ongoing improvements in clinical practice, starting with risk identification, before moving on to risk assessment and analysis, in order to reduce risks where possible. When clinical risk management is applied in rehabilitation, the first step involves identifying errors by assessing adverse events, which are considered to indicate the existing risk. Our work aims to explore the characteristics of the clinical risk in rehabilitation so as to learn more about its extent, its components, and its implications for the user. METHODS: Our study involved numerous workers operating in four different branches of rehabilitation - speech therapy, physiotherapy, psychomotor education and occupational therapy - at forty-nine private rehabilitation centres in the province of Naples, an area that has not been studied before. A questionnaire was drafted regarding the main errors committed in the rehabilitation sector. It was then distributed and collected in again, after which the results were analysed and outcomes measured. Out of a total of 556 questionnaires distributed, 493 were returned (88.6% response rate.). RESULTS: The study revealed that for all the rehabilitation branches considered, the macro-category of errors linked to technical and professional aspects accounted for the highest percentage of the total errors (39%). In this study, the most frequent errors linked to technical and professional aspects were: wrong dose errors, treatment planning errors and functional assessment errors. CONCLUSIONS: There is an evident need to take action in order to manage the clinical risk in rehabilitation: to promote a concept of errors as opportunities for learning and improvement; to maintain the focus on both individual responsibility and on any systemic failings; to share fundamental values such as transparency, collaboration between workers, communication with patients, and a commitment to ongoing improvements in healthcare quality

Ultrasound-guided collagen injections for treatment of plantar fasciopathy in runners: A pilot study and case series

Background. Plantar fasciopathy is a frequent source of foot pain in athletes, and it is caused by the degeneration of the proximal insertion of the plantar fascia, usually triggered by repetitive microtrauma. Type I porcine collagen was shown to enhance tendon repair in vitro, and collagen injections are currently used to treat different tendinopathies. The aim of this study is to verify the effectiveness of collagen injections on pain and function in runners with plantar fasciopathy. Methods. Runners, who have been suffering from plantar fasciopathy for at least 6 months, were treated with a series of 4 ultrasound-guided type I porcine collagen injections, at weekly intervals. The Visual Analogue Scale, American Orthopedic Foot and Ankle Society-Ankle Hindfoot score and pressure algometry were used to verify the effects of collagen injections at 1-month and 3-month follow-up. Results. Compared to baseline, minor (p ≥ .05) and major (p ≤ .001) improvements on pain and function were registered at 1-month and 3-month follow-up, respectively. Conclusion. This is the first study that evaluates the effectiveness of collagen injections in the treatment of plantar fasciopathy in runners. Despite the limitations of this study, the positive findings could represent the starting point for further clinical trials

Intra-articular hyaluronic acid injections and oral collagen supplementation for knee OA: A case report of an elite female soccer player

Soccer players are susceptible to repeated trauma that could lead to a precocious development of knee osteoarthritis (OA). Intra-articular hyaluronic acid (IA-HA) injections have been proposed as a valid treatment for knee OA. Objectives: To describe the effects of IA-HA injections and oral collagen supplementation in a female soccer goalkeeper playing in Italian Women’s Serie A with secondary OA in her knee. Design: Case report. Setting: The athlete underwent three IA-HA injections (1 per week for 3 weeks in a row) together with oral collagen supplementation for one month. Treatment outcomes were evaluated using five scoring scales. Results: One week after the first IA-HA injection all the scores improved. One week after the second injection, compared with the first week, two scores improved, two remained the same, and one worsened. One week after the third injection, compared with the second week, all the scores worsened. At one month, compared with the third week, one score remained the same and all the others worsened. From baseline to one month, three scores improved, one remained the same, and one worsened. Conclusions: In our study, IA-HA injections and oral collagen supplementation showed short-term effects on pain and functional impairment for knee OA

Home Exercise Program is an effective tool in improving upper limb function and quality of life in breast cancer survivors: A retrospective observational study

Background: Home Exercise Program is a mainstay of upper limb dysfunction prevention in breast cancer survivors. However, only subjective assessment instruments have been used until now in order to prove its effectiveness. In the present observational retrospective study, we assessed, for the first time, the effects of Home Exercise Program on the upper limb function of breast cancer survivors via tridimensional motion analysis. We also aimed to show that good upper extremity performance positively influenced the quality of life of breast cancer survivors. Methods: From the 2016 database of breast cancer survivors who underwent upper limb tridimensional motion analysis 1 and 3 months after modified radical mastectomy, we enrolled 15 patients who spontaneously refused to undergo the post-surgical 14-day Home Exercise Program (group A). In addition, 15 patients who were homogeneous to those of group A, but who agreed to normally undergo Home Exercise Program were selected from the same database, in order to compare upper limb performance (group B). The Constant-Murley, Brief Fatigue Inventory and European Organization for Research and Treatment of Cancer quality of life scores during follow-up were analysed and compared. Results: Compared to those in group A, on tridimensional motion analysis, patients in group B showed a wider range of motion of the upper limb, with consequently better shoulder and elbow performance, lower incidence of lymphedema, minor fatigue, and better quality of life. Conclusions: We show objectively, by means of tridimensional motion analysis, that Home Exercise Program is an effective tool for preventing upper extremity dysfunction in breast cancer survivors. Hence, it should always be recommended to such patients as it positively influences their quality of life