Timed rolling and rising tests in Duchenne muscular dystrophy ambulant boys: a feasibility study.

BACKGROUND: Functional activities are extensively used in motor assessments of patients with Duchenne muscular dystrophy. The role of timed items has been reported as an early prognostic factor for disease progression. However, there are two functional activities that are not widely assessed in clinical practice among Duchenne muscular dystrophy patients: rolling and bed rising. This study aimed to investigate whether the 360-degree roll (roll) and supine to sit-to-edge (bed rise) measurements are feasible tools reflecting the functional status of ambulatory DMD children by establishing possible correlations between validated measures: the Vignos Scale (VS), timed rise from floor and the 6-Minute Walk Test (6MWT). METHODS: A total of 32 ambulant boys with DMD were assessed using timed items, the 6MWT and VS. RESULTS: The roll and bed rise are correlated with each other. The 6MWT, the floor rise and VS are correlated with the roll and with the bed rise. CONCLUSIONS: Findings offer preliminary empirical evidence addressing feasibility and safety of roll and bed rise measurements. There is a potential clinical utility of these tests in assessing functional status of DMD ambulant patients.

The Association between the Respiratory System and Upper Limb Strength in Males with Duchenne Muscular Dystrophy: A New Field for Intervention?

Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known about the relationship between the functioning of the respiratory system and the hand grip-a function which remains long preserved. This study aimed to investigate the interdependence between muscle strength and the function of both hand grip and the respiratory system in patients with DMD. MATERIALS AND METHOD: The study included cohort patients, aged 6-17, with DMD, recruited from the Rare Disease Centre, Gdansk, Poland. Clinical status (Vignos scale, Brook scale), pulmonary function (respiratory muscle strength-MIP, MEP); spirometry (FEV1; FVC), as well as upper limb function (performance of the upper limb-PUL 2.0) and hand grip strength (HGS) (hand-held dynamometer) were evaluated in all participants. RESULTS: Finally, 53 boys (mean age 11.41 ± 3.70 years, 25 non-ambulant) were included. Each of the participants presented a lower %pv of MIP (48.11 ± 27), MEP (38.11 ± 22), PUL (75.64 ± 27), and HGS (33.28 ± 18). There were differences between the ambulatory and non-ambulatory groups in values of MIP, MEP, FVC, PUL, HGS (p < 0.001 for all), and FEV1 (p < 0.013). There were correlations between PUL, HGS, and MIP (R = 0.56; R = 0.61, p < 0.001 both), MEP (R = 0.59; R = 0.62, p < 0.001), FVC (R = 0.77; R = 0.77, p < 0.001), and FEV1 (R = 0.77; R = 0.79; p < 0.001). These correlations were found for all participants, but non-ambulatory patients presented stronger relationships. CONCLUSIONS: 1. The pulmonary and upper limb functions were within the normal range in ambulatory and low in non-ambulatory patients with DMD, but the muscle strength of both systems was low, regardless of the stage of the disease. 2. There seems to be an interdependence between the respiratory system and upper limb strength in terms of muscle strength and function in DMD patients, which is stronger in non-ambulatory patients. This may be the basis for the creation of a new personalized plan in rehabilitation-the simultaneous rehabilitation of the respiratory and upper limb muscles. Further studies on this theory should be conducted.

Biological Maturation Predicts Dynamic Balance and Lower Limb Power in Young Football Players.

Biological maturation has an increasingly important role in youth sports. The aim of the study was to evaluate the relationship between dynamic balance and lower limb power and biological maturation in young football players. Seventy-two healthy, young male elite football players (age: 10 ± 2) participated in the study. Dynamic balance was assessed using a modified Star Excursion Balance Test (mSEBT). Power of the lower limbs was examined by a Countermovement Jump test (CMJ) and Single Leg Hop for Distance (SLHD). Furthermore, anthropometry and biological maturation (age, peak height velocity, and maturity offset) were assessed. There was a strong positive correlation between vertical jump (r = 0.75), distance long jump (r = 0.84), and biological maturation. A moderate positive correlation was found between dynamic balance (mSEBT COM, PL, and PM) and maturity offset. There was a significant association between mSEBT, CMJ, and SLHD (p < 0.05). Moreover, maturity offset explained 75% of vertical jump and 74% of distance long jump performance, respectively, and 12% of dynamic balance. Biological maturation should be considered when assessing athletic performance, establishing rehabilitation, and sports training in youth football players.

Association between Selected Screening Tests and Knee Alignment in Single-Leg Tasks among Young Football Players.

This study aimed to examine the relationship between knee valgus in the frontal plane projection angle (FPPA) during single-leg squat (SLS), single-leg landing (SLL), and other selected clinical tests in young athletes. Forty-three young healthy elite football players (age: 13.2 (1.7) years) that were regularly training in a local sports club participated in the study. The FPPA was assessed using 2D video analysis. The screening tests included the passive single-leg raise (PSLR), hip external and internal rotation (hip ER and IR), sit and reach test, weight-bearing lunge test (WBLT), modified star excursion balance test (mSEBT), countermovement jump (CMJ), single-leg hop for distance (SLHD), and age peak height velocity (APHV). There was a significant positive relationship between the knee valgus angles in the SLS test and the sit and reach test (r = 0.34) and a negative relationship with the hip ER ROM (r = −0.34) (p < 0.05). The knee valgus angles in the SLL were negatively associated with the hip IR (r = −0.32) and ER ROM (r = −0.34) and positive associated with the WBLT (r = 0.35) and sit and reach test (r = 0.33) (p < 0.05). Linear regression analysis showed that the results of the hip ER ROM and sit and reach tests were independent predictors of the FPPA in the SLS test (r2 = 0.11, p = 0.03 and r2 = 0.12, p = 0.02, respectively). The conducted study showed that individuals with more hip range of motion, more spine flexion extensibility, and less ankle dorsiflexion ROM may be more likely to experience high degrees of knee valgus in FPPA.

Benefits of Telemonitoring of Pulmonary Function-3-Month Follow-Up of Home Electronic Spirometry in Patients with Duchenne Muscular Dystrophy.

BACKGROUND: In patients with Duchenne Muscular Dystrophy (DMD), the respiratory system determines the quality and length of life; therefore, the search for easy and safe everyday monitoring of the pulmonary function is currently extremely important, particularly in the COVID-19 pandemic. The aim of the study was to evaluate the influence of a three-month home electronic spirometry (e-spirometry) monitoring of the pulmonary function and strength of respiratory muscles as well as the patients' benefits from this telemetric program. METHODS: Twenty-one boys with DMD (aged 7-22; non-ambulatory-11) received a remote electronic spirometer for home use with a special application dedicated for patients and connected with a doctor platform. Control of the hospital spirometry (forced vital capacity-FVC, forced expiratory volume in 1 second-FEV1, peak expiratory flow-PEF) and respiratory muscle strength (maximal inspiratory-MIP and expiratory pressures-MEP) before and after the three-month monitoring were performed as well telemonitoring benefit survey. RESULTS: A total of 1403 measurements were performed; 15 of the participants were able to achieve correct attempts. There were no differences between the hospital and the home spirometry results as well as between respiratory muscle strength during v1 vs. v2 visits for the whole study group (all parameters p > 0.05); the six participants achieved increased value of FVC during the study period. There was a positive correlation between ΔFVC and the number of assessments during the home spirometry (r = 0.7, p < 0.001). Differences between FVC and MIPcmH2O (r = 0.58; p = 0.01), MEPcmH2O (r = 0.75; p < 0.001) was revealed. The mean general satisfaction rating of the telemonitoring was 4.46/5 (SD 0.66) after one month and 4.91/5 (SD 0.28) after three months. The most reported benefit of the home monitoring was the improvement in breathing (38% of participants after one month, 52% after three months of telemonitoring). Forgetting about the procedures was the most common reason for irregular measurements; the participants reported also increased motivation but less time to perform tests. CONCLUSIONS: The study indicates high compliance of the home telemonitoring results with the examination in the hospital. Benefits from home spirometry were visible for all participants; the most important benefit was breathing improvement. The remote home spirometry is usable for everyday monitoring of the pulmonary function in DMD patients as well can be also treated as respiratory muscle training.

Impairment of Proprioception in Young Adult Nonradicular Patients with Lumbar Derangement Syndrome.

Maintaining body balance is a complex function based on the information deriving from the vestibular, visual, and proprioceptive systems. The aim of the study was to evaluate quiet single stance stability in young adults with lumbar derangement syndrome (LDS) and in the control group of the healthy subjects. The second aim of this study was to determine whether pain intensity, degree of disability, and the level of physical activity can influence postural control in patients with LDS. It is important to underline that selecting a homogeneous group of LBP patients using, for example, mechanical diagnosis and therapy method and Quebec Task Force Classification, can result in an increased sensitivity of the study. The study included 126 subjects: 70 patients with LDS (37 women, 33 men) and the control group 56 healthy volunteers (36 women, 20 men). In case of multiple group comparisons for variables with normal distribution, ANOVA post hoc test was used or, as the nonparametric equivalent, Kruskal-Wallis test. In all these calculations, the statistical significance level was set to p < 0.05. The stability index eyes open for the study group was 88.34 and for the control group 89.86. There was no significant difference in the level of postural control between the study and control groups (p > 0.05). The level of stability index eyes closed (SI EC) for the study group was 71.44 and for the control group 77.1. SI EC results showed significant differences in proprioceptive control during single leg stance between the study and control groups (p < 0.05). The level of pain intensity, the degree of disability, and physical activity level did not influence postural control in the study group with LDS. In summary, patients with LDS showed significantly worse proprioceptive control.

Is It Possible to Have Home E-Monitoring of Pulmonary Function in Our Patients with Duchenne Muscular Dystrophy in the COVID-19 Pandemic?-A One Center Pilot Study.

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. Pulmonary function is crucial for duration of life in this disease. Currently, the European Respiratory Society is focused on digital health, seeking innovations that will be realistic for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic. AIMS: The aim of this study was to investigate whether it is possible to monitor pulmonary function at home using an individual electronic spirometry system in boys with Duchenne muscular dystrophy. MATERIALS AND METHODS: In this observational, prospective study, conducted from March 2021 to June 2021, twenty boys with DMD (aged 8-16) were enrolled. The patients were recruited from the Rare Disease Centre, University Clinical Centre, of Gdansk, Poland. Medical history and anthropometric data were collected, and spirometry (Jaeger, Germany) was performed in all patients at the start of the study. Each patient received an electronic individual spirometer (AioCare) and was asked to perform spirometry on their own every day, morning and evening, at home for a period of 4 weeks. The number of measurements, correctness of performing measurements, forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), and peak expiratory flow (PEF) were evaluated. RESULTS: Finally, 14 out of 20 boys enrolled in the study with a mean age of 12.5 years (7 non-ambulatory) applied and received a home spirometer (AioCare). A total of 283 measurements were performed by all patients at home for 4 weeks. Half of the patients were able to perform measurements correctly. There were no significant differences between mean values of FVC, FE1, PEF between home and hospital spirometry (p > 0.05) expect PEF pv% (p < 0.00046). Patients with higher FEV1 (p = 0.0387) and lower BMI (p = 0.0494) were more likely to take home spirometer measurements. The mean general satisfaction rating of home-spirometry was 4.33/5 (SD 0.78), the mean intelligibility rating was 4.83/5 (SD 0.58). Reasons for irregular measurements were: forgetting (43%), lack of motivation (29%), difficulty (14%), lack of time (14%). CONCLUSION: Home electronic monitoring of pulmonary function in patients with DMD is possible to implement in daily routines at home. This protocol should be introduced as early as possible in patients 7-8 years old with good, preserved lung function. Patients accept this form of medical care but require more education about the benefits of e-monitoring. There is a need to implement a system to remind patients of the use of electronic medical devices at home, e.g., via SMS (short message service).

Respiratory Telerehabilitation of Boys and Young Men with Duchenne Muscular Dystrophy in the COVID-19 Pandemic.

BACKGROUND: The COVID-19 pandemic forced reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy. Digital solutions seem to be optimal for providing rehabilitation at this time. The aim of this study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation in Duchenne muscular dystrophy. METHODS: The study was conducted during an online conference for families with DMD. During the physical therapy panel we showed the video with the instructions of respiratory exercises. All participants (n = 152) were asked to fill in the online survey evaluating the quality, acceptance, and understanding of the instructions. RESULTS: The survey was filled in by 45 (29.6%) participants. The mean rating of satisfaction was 4.70/5, and for intelligibility was 4.78/5. Thirty-seven (82.2%) patients declared that they had performed the exercises, all caregivers declared that it was possible to perform the proposed exercises a few times a week or daily, and only two respondents replied to invitations to individual online sessions. CONCLUSIONS: Findings from the study show that respiratory telerehabilitation may be implemented for DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reasons for this situation require further research.

Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic.

BACKGROUND: Duchenne muscular dystrophy is a genetic disease characterized by gradual loss of motor function, respiratory failure and cardiomyopathy. During the time of the global coronavirus pandemic, maintenance of social distancing and self-isolation might complicate regular multidisciplinary care of patients with Duchenne muscular dystrophy but on the other hand may lead to new medical care telehealth solutions. The aim of the study was to investigate patients' situation regarding rehabilitation in the pandemic, to establish an online rehabilitation program and motor assessment and to determine the needs of telerehabilitation in this group. METHODS: The project involved 69 boys with Duchenne muscular dystrophy. The rehabilitation program was presented during online workshops for patients and caregivers. The same program was recorded on video and published in the internet. The online motor assessment tool consisted of six motor tests, caregivers were asked to perform the tasks and share a photograph of the patient's posture using a designed app. RESULTS: In the nonambulant group the emphasis was placed on chest physiotherapy, stretching of upper extremities, positioning and wheelchair ergonomics. The program for the ambulant group focused on lower extremities stretching and full body exercises. Response rate for the workshops for ambulant patients was 29.7%, and only 9.0% for nonambulant patients. Videos showing exercises were displayed 132 times within a month. CONCLUSION: With the physiotherapist guidance (online communication or video) patients with caregivers' help can continue home based rehabilitation. Online videos/instructions/video guidelines are more acceptable by parents/caregivers of patients with Duchenne muscular dystrophy than live workshops.

Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey.

Background: Patients with Duchenne muscular dystrophy (DMD) may be at higher risk of a severe course of COVID-19. The aim of the study was to evaluate: (1) the incidence and course of COVID-19 infection in DMD patients; (2) the vaccination status of DMD patients; and (3) COVID-19 related anxiety among DMD families. Materials and Methods: The study was conducted during an online symposium for DMD patients and their families. All participants (DMD families; n = 150) were asked to fill in the online survey with questions about COVID-19 infection history, vaccination against SARS-CoV-2 and anxiety during pandemic. Results: 53 DMD patients filled in the survey. Five (9.43%) were COVID-19 positive with mild symptoms of respiratory infection and anosmia; 23 (42.6%) were vaccinated, but in almost 20% of DMD families, none of the family members was vaccinated. Respondents revealed anxiety related both to the vaccination procedure and to COVID-19 infection (complications after infection 93.6%, death 62.4% respondents). Changes in health care system organization also aroused concern among participants (85.3%). Conclusion: The course of the COVID-19 infection in DMD patients was mild. Not enough patients with DMD and their families are vaccinated. Education about the management of COVID-19 infections and the vaccination procedure for DMD patients is needed and expected.

Dysmenorrhea and Associated Factors among Polish Women: A Cross-Sectional Study.

Purpose: The aim of the research was to conduct an assessment of the prevalence of dysmenorrhea and associated factors among Polish women. Patients and Methods. A cross-sectional study was conducted among Polish women using an online questionnaire. The mean age of the participants was 23 ± 4 years. Out of the total of 1,317 women who took part in the study, 1,127 were included in the analysis, and 190 were excluded due to incomplete answers. The questionnaire consisted of 19 questions that were grouped into three parts. The first concerned sociodemographic data such as age, weight, education, and residence (urban or rural). The second part of the questionnaire pertained to the factors of dysmenorrhea (premenstrual syndrome, age of menarche, and family history of dysmenorrhea.). In the third part, the women were asked about their diet, alcohol intake, cigarette smoking, and physical activity. Results: Dysmenorrhea affected 94% of the interviewed women. Dysmenorrhea was most likely to occur among respondents whose mothers had a history of dysmenorrhea (p < 0.005). Significant relationship between the occurrence of dysmenorrhea among respondents and their sisters was also observed (p < 0.005). The prevalence of premenstrual syndrome (PMS) was significantly higher in women reporting dysmenorrhea (p < 0.005). Other significant factors associated with dysmenorrhea were age of menarche (p < 0.005), stress frequency (p=0.005), lack of physical activity (p=0.037), and self-esteem (p=0.042). However, in the respondents, no significant relationship was observed between dysmenorrhea and diet, smoking, body mass index, and alcohol intake. Conclusion: The study points to the fact that the problem of dysmenorrhea affects many Polish women. Women with dysmenorrhea were characterized with a family history of dysmenorrhea, occurrence of PMS, early age of menarche, stressful lifestyle, lack of physical activity, and low self-esteem. We suggest that further assessment of factors contributing for dysmenorrhea among women is necessary.

Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy.

Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in childhood, historically resulting in early death. Currently, there are a lot of methods available to improve the clinical course of DMD and extend patients' life expectancy to more than 30 years of age. The key issue for DMD patients is the period between 16-18 years of age, which is described as a transition from pediatric- to adult-oriented healthcare. Adolescents and adults with DMD have highly complex healthcare needs associated with long-term steroid usage, orthopedic, ventilation, cardiac, and gastrointestinal problems. The current paper provides a comprehensive overview of special healthcare needs related to the transfer of a patient with DMD from child-oriented to adult-oriented care. Additionally, the need to organize effective care for adults with DMD is presented.

Arthrogryposis in infancy, multidisciplinary approach: case report.

BACKGROUND: Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial. CASE PRESENTATION: We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved. This article proposes a cooperation of various specialists: paediatrician, orthopaedist, specialist of medical rehabilitation and physiotherapist. CONCLUSIONS: Rehabilitation of a child with arthrogryposis should be early, comprehensive and multidisciplinary. Corrective treatment of knee and hip joints in infants with arthrogryposis should be preceded by the ultrasound control. There are no reports in the literature on the ultrasound imaging techniques which can be used prior to the planned orthopaedic and rehabilitative treatment in infants with arthrogryposis. The experience of our team indicates that such an approach allows to minimise the diagnostic errors and to maintain an effective treatment without the risk of joint destabilisation.