The effects of COVID-19 pandemic countermeasures on patients receiving botulinum toxin therapy and on their caregivers: a study from an Italian cohort.

COVID-19 outbreak had a huge worldwide impact, and several countermeasures to contain its spread have been adopted, such as the interruption of nonurgent outpatient clinics. We wanted to describe the effects of the national lockdown on the well-being of a cohort of Italian patients with cerebral palsy (CP) receiving botulinum toxin (BT) therapy and of their caregivers. Twenty-five patients receiving BT therapy were surveyed using the structuralized questionnaire by Dressler and Adib Saberi, while the caregivers were assessed using the Caregiver Burden Scale. The lockdown delayed BT therapy by 9 ± 2.8 months. Around 44% of the selected patients noticed increased muscle cramps, 24% increased muscle pain, and 32% both of them. Due to the lockdown, the patient's quality of life was reduced by 68.4 ± 21.1%. After the lockdown, 100% of patients perceived BT therapy as more important than before. Around 76% of the patients perceived the lockdown as inadequate and felt that their rights were not respected. The overall score of the Caregiver Burden Scale, as regarded before the lockdown, was 29.12 ± 11.63, while the overall score as regarded after the lockdown was 37.44 ± 14.85. The overall score increased, from before the lockdown to after the lockdown, for 92% of caregivers. The BT outpatient clinic's interruption was seen to significantly worsen the psychophysical condition of subjects with CP and the care burden of their caregivers, exposing them to greater stress than before. Therefore, any kind of BT treatment suspension or delay should be avoided.

Expansion of the phenotype of lateral meningocele syndrome.

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and left-convex scoliosis, dysmorphic features, and mild developmental delay. Exome sequencing detected the previously unreported de novo loss-of-function variant in exon 33 of NOTCH3 p.(Lys2137fs). Following the identification of the gene defect, MRI of the brain and spine revealed temporal encephaloceles, inner ears anomalies, multiple spinal lateral meningoceles, and intra- and extra-dural arachnoid spinal cysts. This case illustrates the power of reverse phenotyping to establish clinical diagnosis and expands the spectrum of clinical manifestations related to LMS to include inner ear abnormalities and multi-cystic kidney disease.

Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature.

[Purpose] The aim of the study was to conduct a systematic review about rehabilitation treatment of hypermobile Ehlers-Danlos syndrome, according to Evidence Based Medicine. [Methods] A systematic search has been conducted in following database: PubMed, PEDro, Cochrane, EDS Base Index, TRIP and CINHAL; no time restrictions were adopted. PICO method was employed to formulate the clinical query. Hypermobile Ehlers-Danlos syndrome and physiotherapy were the main keywords of the research. [Results] 1,869 articles emerged from the primary search. After duplicates removal, 1,709 papers have been screened by title and abstracts and then 1,698 were excluded following the inclusion criteria. 11 papers have been admitted to the last stage of the review and have been evaluated in their full-text version. Only one cohort study met the review's final step selection criteria. One cohort study on the efficacy of an integrated physiotherapeutic and cognitive behavioural treatment was evaluated by means of Newcastle-Ottawa Quality Assessment score and resulted of poor evidence. [Conclusion] At the present time, there is no Evidence Based Medicine literature on hypermobile Helers-Danlos syndrome rehabilitation. Clinical studies with high level of evidence are necessary in order to assess the efficacy of physiotherapeutic approaches.

Is there a role of pulsed electromagnetic fields in management of patellofemoral pain syndrome? Randomized controlled study at one year follow-up.

Patellofemoral pain syndrome (PFPS) is a common cause of recurrent or chronic knee pain in young adults, generally located in the retropatellar region. Etiology is controversial and includes several factors, such as anatomical defects, muscular imbalance, or joint overuse. Good results have been reported with exercise therapy, including home exercise program (HEP). Joint inflammation with increase of pro-inflammatory cytokines levels in the synovial fluid might be seen especially when chondromalacia becomes evident. Biophysical stimulation with pulsed electromagnetic fields (PEMFs) has shown anti-inflammatory effects and anabolic chondrocyte activity. The purpose of this randomized controlled study was to evaluate if the combination of HEP with PEMFs was more effective than HEP alone in PFPS treatment. Thirty-one PFPS patients were enrolled in this study. All patients were instructed to train with HEP. Patients in the PEMFs group associated HEP with PEMFs. Function and pain were assessed with Victorian Institute of Sport Assessment score (VISA), Visual Analog Scale (VAS), and Feller's Patella Score at baseline at 2, 6, and 12 months of follow-up. Drug assumption was also recorded. Increase in VISA score was significantly higher in PEMFs group compared to controls at 6 and 12 months, as well as the increase in the Feller's Patella Score at 12 months. VAS score became significantly lower in the PEMFs group with respect to control group since 6 month follow-up. Pain reduction obtained with PEMFs enhanced practicing therapeutic exercises leading to a better recovery process; this is extremely important in addressing the expectations of young patients, who wish to return to sporting activities.

Facioscapulohumeral distrophy and physiotherapy: a literary review.

[Purpose] The purpose of this review was to critically evaluate the literature concerning the physiotherapy of facioscapulohumeral dystrophy, and to determine an effective protocol for physiotherapy treatments, which can be adapted to patient characteristics. [Methods] A bibliographic research was carried out of research papers held in the following databases: PUBMED, PEDRO, MEDLINE, EDS BASE INDEX. The inclusion criteria for acceptance of the studies to the review were randomized controlled trials (RCTs) concerning a sample no smaller than 10 people and a medium- or long-term report of the results achieved. [Results] Just six of the works satisfied the inclusion criteria, and just three of them were useful for the review. However, these studies were difficult to compare. [Conclusion] At present, there are few studies concerning facioscapulohumeral dystrophy in the literature, and the few that are available rule out the utility of the techniques used. Therefore, more RCTs of new treatment strategies are needed.

Exploring the impact of vitamin D on tendon health: a comprehensive review.

Tendons are vital components of the musculoskeletal system, facilitating movement and supporting mechanical loads. Emerging evidence suggests that vitamin D, beyond its well-established role in bone health, exerts significant effects on tendon physiology. The aim of this manuscript is to review the impact of vitamin D on tendons, focusing on its mechanisms of action, clinical implications, and therapeutic applications. A comprehensive search of scientific electronic databases was conducted to identify articles on the effects of vitamin D on tendon health. Fourteen studies were included in this review. Five studies were performed in vitro, and nine studies were conducted in vivo. Despite some conflicting results, the included studies showed that vitamin D regulates collagen synthesis, inflammation, and mineralization within tendons through its interaction with vitamin D receptors. Epidemiological studies link vitamin D deficiency with tendon disorders, including tendinopathy and impaired healing. Supplementation with vitamin D shows promise in improving tendon strength and function, particularly in at-risk populations such as athletes and the elderly. Future research should address optimal supplementation strategies and explore the interplay between vitamin D and other factors influencing tendon health. Integrating vitamin D optimization into clinical practice could enhance tendon integrity and reduce the burden of tendon-related pathologies.

Intra-Articular Collagen Injections for Osteoarthritis: A Narrative Review.

Osteoarthritis (OA) is the most frequent degenerative progressive joint disease worldwide, with the hand, hip, and knee being the most-affected joints. Actually, no treatment can alter the course of OA, and therapy is directed at reducing pain and improving function. The exogenous administration of collagen has been investigated as a possible symptomatic adjuvant or stand-alone treatment for OA. The aim of this review is to assess if intra-articular collagen administration can be considered as a valid and safe therapeutic option for OA. A search in the main scientific electronic databases to identify the available scientific articles about the effects of intra-articular collagen as an OA treatment was performed. The results of the seven included studies showed that the intra-articular administration of collagen may stimulate chondrocytes to produce hyaline cartilage and hinder the normal inflammatory response leading to fibrous tissue formation, reducing symptoms, and improving functionality. The use of type-I collagen as an intra-articular treatment for knee OA was found not only to be effective, but also safe with negligible side effects. The reported findings are strongly promising, highlighting the need for further high-quality research to confirm the consistency of these findings.

Achilles Tendinopathy Pathogenesis and Management: A Narrative Review.

The Achilles tendon is the thickest and strongest tendon of the human body, and it is frequently injured during sports activity. The incidence of Achilles tendon pathologies has increased over recent decades, especially in the last few years, because of increased sports participation among the general population and due to the diffusion of competitive sports at a high level. Tendinopathies are common in athletes and in middle-aged overweight patients. The term "tendinopathy" refers to a condition characterised clinically by pain and swelling, with functional limitations of tendon and nearby structures, and consequently to chronic failure of healing response process. Tendinopathies can produce marked morbidity, and at present, scientifically validated management modalities are limited. Despite the constantly increasing interest and number of studies about Achilles tendinopathy (AT), there is still not a consensual point of view on which is the best treatment, and its management is still controversial. AT can be treated conservatively primarily, with acceptable results and clinical outcomes. When this approach fails, surgery should be considered. Several surgical procedures have been described for both conditions with a relatively high rate of success with few complications and the decision for treatment in patients with AT should be tailored on patient's needs and level of activity. The aim of this article is to give insights about the pathogenesis and most used and recent treatment options for AT.

Temporomandibular disorders, neck disability, and oral parafunctions in tinnitus patients: A cross-sectional epidemiological study from Southern Italy.

OBJECTIVE: To assess the prevalence of temporomandibular disorders (TMD) in a sample of tinnitus patients and to determine the association between tinnitus, TMD, neck disability, and oral parafunctions. METHODS: Seventy-nine tinnitus patients were enrolled and underwent standardized clinical examination for TMD. The tinnitus severity was measured with the Tinnitus Handicap Inventory (THI). The oral parafunctions were self-reported with the Oral Behavior Checklist (OBC). The neck disability was recorded with the Neck Disability Index (NDI). RESULTS: More than half of the sample presented TMD, and the most frequent diagnosis was TMD pain. Higher THI was observed in TMD-pain individuals, compared to TMD-free (ß 18.4; 95%CI 6.7, 30.1; p = 0.002). The OBC showed a significant low-to-moderate positive correlation with the THI (rho= 0.368, p = 0.001), while the NDI did not. DISCUSSION: Standardized assessment of TMD and oral behaviors should be integrated into the routine diagnostic evaluations of tinnitus patients.

Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study.

BACKGROUND: The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognitive skills. The study objectives were: 1) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome; 2) to examine differences in walking onset by patient characteristics; and 3) to verify the effect of early physical therapy (neurodevelopmental treatment based on Bobath Concept practiced within the first months of life) in the achievement of that skill. METHODS: A retrospective study was carried out on a cohort of 86 children with Down Syndrome. The knowledge of the exact age of walking onset and information about comorbidities and rehabilitation practiced since birth were the eligibility criteria. RESULTS: The average age at which walking began in the sample was 26 months (standard deviation=9.66). Some patient characteristics proved to be related negatively to the walking onset: gender male, trisomy 21, improved joint ligamentous laxity. When practiced, early physical therapy was able to contrast the delay in walking. CONCLUSIONS: NDT-Bobath is a well-known and valid instrument for a child with Down syndrome to attain his highest possible psychomotor functioning level. This study pointed out for the first time ever its capability to contrast the delay on walking onset, which can influence positively the development of the following motor and cognitive skills.

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.

Management of Muscle Spasticity in Children with Cerebral Palsy by Means of Extracorporeal Shockwave Therapy: A Systematic Review of the Literature.

The purpose of this systematic review was to investigate the effectiveness of extracorporeal shockwave therapy for the management of muscle spasticity in children with cerebral palsy. An electronic database search was performed to identify studies relevant to the research question. Assessment of the quality of evidence in all relevant studies was performed with the help of the Oxford Center for Evidence-based Medicine guide. Four studies met our inclusion criteria for review: one was a low-quality randomized controlled clinical trial, two were individual case-control studies and one was a case series study. Reduction in muscle stiffness and improvement in joint range of motion were the outcomes in all of the selected studies that used extracorporeal shockwave therapy. However, considering the limited evidence provided by these studies, further research is needed to support the use of extracorporeal shockwave therapy in the management of muscle spasticity in children with cerebral palsy.

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.

Achilles Tendon Rupture: Mechanisms of Injury, Principles of Rehabilitation and Return to Play.

The Achilles tendon is the thickest, strongest and largest tendon in the human body, but despite its size and tensile strength, it frequently gets injured. Achilles tendon ruptures (ATRs) mainly occur during sports activities, and their incidence has increased over the last few decades. Achilles tendon tears necessitate a prolonged recovery time, sometimes leaving long-term functional limitations. Treatment options include conservative treatment and surgical repair. There is no consensus on which is the best treatment for ATRs, and their management is still controversial. Limited scientific evidence is available for optimized rehabilitation regimen and on the course of recovery after ATRs. Furthermore, there are no universally accepted outcomes regarding the return to play (RTP) process. Therefore, the aim of this narrative review is to give an insight into the mechanism of injuries of an ATR, related principles of rehabilitation, and RTP.

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.

Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A total of 17319 studies were found in the main scientific databases. Applying the inclusion/exclusion criteria, 22 studies were admitted to the final phase of the review. Level of evidence of the included studies was assessed using the Oxford Centre for Evidence-Based Medicine-Levels of Evidence guide. Nine approaches to physical therapy for patients with Rett syndrome were identified: applied behavior analysis, conductive education, environmental enrichment, traditional physiotherapy with or without aids, hydrotherapy, treadmill, music therapy, computerized systems, and sensory-based treatment. It has been reported that patients had clinically benefited from the analysed approaches despite the fact that they did not have strong research evidence. According to the results, a multimodal individualized physical therapy program should be regularly recommended to patients with Rett syndrome in order to preserve autonomy and to improve quality of life. However, more high-quality studies are needed to confirm these findings.

Use of injectable collagen in partial-thickness tears of the supraspinatus tendon: a case report.

Management of partial-thickness rotator cuff tears is actually controversial. We treated a patient with a partial-thickness tear of the supraspinatus tendon by a series of four type I porcine collagen ultrasound-guided injections, at weekly intervals. At the same time the patient underwent physical therapy, consisting of motor re-education and proprioceptive exercises. The patient was assessed before the treatment and up to 18 months after the last injection by the Constant-Murley score, the Disability of Arm, Shoulder and Hand questionnaire and ultrasonography. Shoulder pain and functional limitation progressively improved and they almost completely disappeared at the last follow-up. Ultrasonography showed a gradual healing of the partial-thickness tear and a regeneration of the tendon structure. This is the first study on ultrasound-guided injections of type I porcine collagen for the treatment of partial-thickness rotator cuff tears. Future research should confirm the excellent result achieved in this case report.

The Impact of Urinary Incontinence on Quality of Life: A Cross-Sectional Study in the Metropolitan City of Naples.

Urinary incontinence is a hygienic and psychosocial problem that often brings people to restrict their social life and to experience depression. The main aim of this study was to evaluate the impact of urinary incontinence on quality of life among residents of the Metropolitan City of Naples, Italy, using a newly designed multidimensional questionnaire. The secondary objective was to find which variables affect the quality of life and symptom severity in these patients. To do so, a sample composed of twenty-eight patients was recruited in a multicentre cross-sectional study. Most of the participants had a mild impairment (60%) concerning social life and self-perception, especially those whose education was above the primary level (p = 0.036) and those who followed a pelvic floor rehabilitation program (p = 0.002). Overflow urinary incontinence was associated with a greater deterioration in the aspirational and occupational domain (p = 0.044). Symptom severity was worse in those who had comorbidities (p = 0.038), who had a high body mass index (p = 0.008) or who used diuretics (p = 0.007). In conclusion, our results suggest that there is a significant impairment of quality of life in patients who have only primary education and who follow a pelvic floor rehabilitation program.

Brachial Plexus Injuries in Sport Medicine: Clinical Evaluation, Diagnostic Approaches, Treatment Options, and Rehabilitative Interventions.

The brachial plexus represents a complex anatomical structure in the upper limb. This "network" of peripheral nerves permits the rearrangement of motor efferent fibers, coming from different spinal nerves, in several terminal branches directed to upper limb muscles. Moreover, afferent information coming from different cutaneous regions in upper limb are sorted in different spinal nerves through the brachial plexus. Severe brachial plexus injuries are a rare clinical condition in the general population and in sport medicine, but with dramatic consequences on the motor and sensory functions of the upper limb. In some sports, like martial arts, milder injuries of the brachial plexus can occur, with transient symptoms and with a full recovery. Clinical evaluation represents the cornerstone in the assessment of the athletes with brachial plexus injuries. Electrodiagnostic studies and imaging techniques, like magnetic resonance and high-frequency ultrasound, could be useful to localize the lesion and to define an appropriate treatment and a functional prognosis. Several conservative and surgical techniques could be applied, and multidisciplinary rehabilitative programs could be performed to guide the athlete toward the recovery of the highest functional level, according to the type of injury.

Guidelines for Physical Activity-A Cross-Sectional Study to Assess Their Application in the General Population. Have We Achieved Our Goal?

National and international healthcare organizations propose guidelines for physical activity worldwide, defining its characteristics. These guidelines' practical applications are difficult to estimate, since they are not fully followed. The aim of the present cross-sectional observational study was to assess awareness about guidelines for physical activity and to evaluate their practical applications in a sample of the Italian population. In total, 310 participants completed an online survey (mean age 29.10 ± 4.44), assessing the habits, beliefs and health effects of physical activity. In total, 39.35% of respondents were inactive. In total, 6.91% of active respondents did not perform a warm-up phase at the beginning of each training session and 77.14% did not check their own heart rate during the training session. Approximately half of respondents reported erroneous beliefs about the type, frequency and volume of physical activity, compared to data proposed by the guidelines. The preventive effect of physical activity was clearly perceived for cardiovascular diseases, diabetes, metabolic syndrome and depression. Several subjects misinterpreted the preventive role of physical activity in colon and breast cancers, and in femur and vertebral fractures. Habits and beliefs about physical activity in the general population are far from the guidelines and recommendations. Therefore, it is necessary to strengthen the conscious practice of physical activity further.