Musculoskeletal System and Gait Characteristics in Patients with Osteogenesis imperfecta.

OBJECTIVES: The aim of the study was to assess the muscoloskeletal system and spatiotemporal gait parameters of patients in three types of osteogenesis imperfecta. DESIGN STUDY: Retrospective observational study. SETTINGS: The Department of Rehabilitation, Children's Memorial Health Institute in Warsaw, Poland. PARTICIPANTS: This study investigated individuals with various types of osteogenesis imperfecta: 33 with osteogenesis imperfecta I (aged 13.9), 16 with osteogenesis imperfecta III (aged 10.4), and 14 with osteogenesis imperfecta IV (aged, 15.8), as well as a reference group of 400 healthy individuals. MAIN MEASURES: The musculoskeletal assessment included: medical record review, clinical evaluation, functional tests, long bone deformity assessment via clinical and X-ray examination, and objective gait analysis with the Vicon Motion Systems (Ltd, Oxford, UK). RESULTS: The study revealed notable differences in clinical presentation, deformities within the musculoskeletal system, gait parameters across the various types of osteogenesis imperfecta (p < 0.001). The most affected gait parameters were: cadence, gait speed and step length. The greatest deformities of lower limbs and spine were presented in patients with osteogenesis imperfecta type III. CONCLUSIONS: These findings are significant for understanding gait abnormalities in osteogenesis imperfecta patients and designing customized physiotherapy programs to help them participate fully in daily life. Improvement of muscle strength is one of the key for easier engagement in activities like walking or stair-climbing.

Are Gait and Balance Problems in Neurological Patients Interdependent? Enhanced Analysis Using Gait Indices, Cyclograms, Balance Parameters and Entropy.

BACKGROUND: Balance and locomotion are two main complex functions, which require intact and efficient neuromuscular and sensory systems, and their proper integration. In many studies the assumption of their dependence is present, and some rehabilitation approaches are based on it. Other papers undermine this assumption. Therefore the aim of this study was to examine the possible dependence between gait and balance in patients with neurological or sensory integration problems, which affected their balance. METHODS: 75 patients (52 with neurological diseases, 23 with sensory integration problems) participated in the study. They underwent balance assessment on Kistler force plate in two conditions, six tests on a Balance Biodex System and instrumented gait analysis with VICON. The gait and balances parameters and indices, together with entropy and cyclograms were used for the analysis. Spearman correlation, multiple regression, cluster analysis, and discriminant analysis were used as analytical tools. RESULTS: The analysis divided patients into 2 groups with 100% correctly classified cases. Some balance and gait measures are better in the first group, but some others in the second. CONCLUSIONS: This finding confirms the hypothesis that there is no direct link between gait and balance deficits.

Sensitivity analysis of the estimated muscle forces during gait with respect to the musculoskeletal model parameters and dynamic simulation techniques.

The purpose of the current study was to investigate the robustness of dynamic simulation results in the presence of uncertainties resulting from application of a scaled-generic musculoskeletal model instead of a subject-specific model as well as the effect of the choice of simulation method on the obtained muscle forces. The performed sensitivity analysis consisted of the following multibody parameter modifications: maximum isometric muscle forces, number of muscles, the hip joint centre location, segment masses as well as different dynamic simulation methods, namely static optimization with three different criteria and a computed muscle control algorithm (hybrid approach combining forward and inverse dynamics). Twenty-four different models and fifty-five resultant dynamic simulation data sets were analysed. The effects of model perturbation on the magnitude and profile of muscle forces were compared. It has been shown that estimated muscle forces are very sensitive to model parameters. The greatest impact was observed in the case of the force magnitude of the muscles generating high forces during gait (regardless of the modification introduced). However, the force profiles of those muscles were preserved. Relatively large differences in muscle forces were observed for different simulation techniques, which included both magnitude and profile of muscle forces. Personalization of model parameters would affect the resultant muscle forces and seems to be necessary to improve general accuracy of the estimated parameters. However, personalization alone will not ensure high accuracy due to the still unresolved muscle force sharing problem.

Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI).

Osteogenesis imperfecta (OI) is a rare genetic disorder of type I collagen. Type I is the most common, which is called a non-deforming type of OI, as in this condition, there are no major bone deformities. This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. The body height of these patients is regarded as normal, or only slightly reduced, but there are no data proving this in the literature. The aim of this study is the preparation of the developmental charts of children with OI type I. The anthropometric data of 117 patients with osteogenesis imperfecta were used in this study (61 boys and 56 girls). All measurements were pooled together into one database (823 measurements in total). To overcome the problem of the limited number of data being available in certain age classes and gender groups, the method called reverse transformation was used. The body height of the youngest children, aged 2 and 3 years, is less than that of their healthy peers. Children between 4 and 7 years old catch up slightly, but at later ages, development slows down, and in adults, the median body height shows an SDS of -2.7. CONCLUSION: These results show that children with type I OI are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old, and, ultimately, their body height is impaired. What is Known: • The body height of patients with osteogenesis imperfecta type I is regarded as normal, or only slightly reduced, but in the known literature, there is no measurement data supporting this opinion. What is New: • Children with type I osteogenesis imperfecta are smaller from the beginning than their healthy counterparts, their development slows down from 8 years old and, ultimately, their final body height is impaired. • The developmental charts for the body height, body weight and BMI of children with type I osteogenesis imperfecta are shown.

[Impact of low level laser therapy on skin blood flow]. / Wplyw niskoenergetycznej laseroterapiina skorny przeplyw krwi.

UNLABELLED: The aim of this study was to objectively assess the impact of low level laser therapy on skin blood flow, in terms of two of its components - the flow and trophic and therapeutic effect. MATERIAL AND METHODS: Nineteen children aged 3-15 years have been included in the study (seven boys and twelve girls) with a diagnosis of meningomyelocele in the lumbosacral area. In nine of them (47.3%) bedsores were found in the area of paresis location. Studies of skin blood flow were performed using xenon 133 clearance in the Department of Nuclear Medicine of the Children's Memorial Health Institute. Xenon 133 radioisotope in saline with intrinsic activity 74 MBq in 1 ml was used as the marker. Laser application was performed immediately prior to the application of the marker with a tag shower 60 mW probe, emitting 680 nm red light with surface power density of 0.5 J/cm2. RESULTS: Within the tested children the laser application resulted in a significantly increased skin blood flow. Average results in tested group before LLLT are 7.47 ml/100 g/min, after LLLT 11.08 ml/100 g/min. CONCLUSIONS: 1. LLLT significantly increases the perfusion of the skin. 2. The effect of the increased perfusion as the result of laserotherapy in the most evident in children with skin trophic abnormalities. 3. Results confirmed by clinical observation indicate, that perfusion increase in relation to LLLT takes place with participation of trophic component of skin blood circulation.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

PURPOSE: Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation. METHODS: The clinical and immunological characteristics of 149 NBS patients registered in the online database of the European Society for Immune Deficiencies were analyzed. RESULTS: Of the 149 NBS patients, 91 (61%), of median age 14.3 years, remained alive at the time of analysis. These patients were clinically heterogeneous, with variable immune defects, ranging from negligible to severe dysfunction. Humoral deficiencies predisposed NBS patients to recurrent/chronic respiratory tract infections and worsened long-term clinical prognosis. Eighty malignancies, most of lymphoid origin (especially non-Hodgkin's lymphomas), were diagnosed in 42% of patients, with malignancy being the leading cause of death in this cohort. Survival probabilities at 5, 10, 20 and 30 years of age were 95, 85, 50 and 35%, respectively, and were significantly lower in patients with than without malignancies. CONCLUSIONS: The extremely high incidence of malignancies, mostly non-Hodgkin's lymphomas, was the main risk factor affecting survival probability in NBS patients. Because treatment of NBS is very difficult and frequently unsuccessful, the search for an alternative medical intervention such as hematopoietic stem cell transplantation is of great clinical importance.

Quadriceps femoris spasticity in children with cerebral palsy: measurement with the pendulum test and relationship with gait abnormalities.

BACKGROUND: Development of a reliable and objective test of spasticity is important for assessment and treatment of children with cerebral palsy. The pendulum test has been reported to yield reliable measurements of spasticity and to be sensitive to variations in spasticity in these children. However, the relationship between the pendulum test scores and other objective measures of spasticity has not been studied. The present study aimed to assess the effectiveness of an accelerometer-based pendulum test as a measurement of spasticity in CP, and to explore the correlation between the measurements of this test and the global index of deviation from normal gait in in children with cerebral palsy. METHODS: We studied thirty-six children with cerebral palsy, including 18 with spastic hemiplegia and 18 with spastic diplegia, and a group of 18 typically-developing children. Knee extensor spasticity was assessed bilaterally using the accelerometer-based pendulum test and three-dimensional gait analysis. The Gillette Gait Index was calculated from the results of the gait analysis. RESULTS: The data from the accelerometer-based pendulum test could be used to distinguish between able-bodied children and children with cerebral palsy. Additionally, two of the measurements, first swing excursion and relaxation index, could be used to differentiate the degree of knee extensor spasticity in the children with cerebral palsy. Only a few moderate correlations were found between the Gillette Gait Index and the pendulum test data. CONCLUSIONS: This study demonstrates that the pendulum test can be used to discriminate between typically developing children and children with CP, as well as between various degrees of spasticity, such as spastic hemiplegia and spastic diplegia, in the knee extensor muscle of children with CP. Deviations from normal gait in children with CP were not correlated with the results of the pendulum test.

Functional impairments in NBIA patients: Preliminary results.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms control and palliative care. The main problems are delayed motor development, gait deterioration, postural instability, cognitive dysfunctions, abnormal muscle tone and many others. As gait and balance deficits are predominant features of NBIA patients this study aimed at the use of the objective, instrumented functional tests as well as functional assessment scales to assess their functional impairments. Twenty three NBIA patients recruited for the study underwent objective, instrumented gait analysis, balance assessment, pedobarography and functional evaluation with Gross Motor Function Measure (GMFM-88). The results showed high variability and heterogeneity of NBIA functional status (GMFM from 27.5 to 100.0), but also showed some differences in gait pattern between their types (p < 0.05 at the pelvis, hip and knee). We think that these results could help design objective assessment protocols in future clinical studies.

Comparison of 2 Conservative Treatment Approaches for the Flat Foot in Children Aged 5 to 10: Foot Orthoses Versus Foot Orthoses Supplemented With Zukunft-Huber Manual Therapy.

The aim was to find if foot orthotics alone can improve flat feet in children and analyze how the addition of Zukunft-Huber manual therapy and corrective bandaging changes the outcome. Forty-nine children aged 5 to 10 with asymptomatic flexible flat feet were divided into 2 groups. The first was treated with foot orthoses alone, in the second wearing foot orthoses was supplemented with Zukunft-Huber manual therapy and corrective bandaging. Pedobarography during gait was performed before the therapy and after a year. In the first group decrease in arch index, width, force, and area of midfoot, increase in force MH2 and area hindfoot was found, in the second decrease in arch index, width, force, and area of midfoot, increase in force under metatarsal head second, third, fourth, and fifth, area metatarsal head fourth and area hindfoot. Both methods showed positive changes, but foot orthoses with additional intervention were more effective.

Diagnosis, Clinical Presentation and Management of Celiac Disease in Children and Adolescents in Poland.

Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten in genetically predisposed individuals, affecting about 1% of the general population in the developed world. In 2012, the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) recommendations for CD diagnoses in children and adolescents were introduced, allowing the "no-biopsy" approach if certain criteria were met. This approach was also confirmed in the revised guidelines published in 2020. Thus, the aim of this study was to assess-over a one-year period-the clinical presentations and current status of the management of children and adolescents diagnosed with CD in Poland. Medical records of children and adolescents, newly diagnosed with CD in 2022/2023 in three medical centers in Poland, were involved. Gastroenterologists completed the specific anonymous web-based forms developed in the CD SKILLS project, including data routinely assessed at individual visits about the diagnostic approach and clinical presentation of the disease. Our study assessed 100 patients (56% girls) with an age range 1.6-18.0 years. We found that 98% of patients were serologically tested prior to a CD diagnosis and 58% of patients were diagnosed using the "no-biopsy" approach. In the analyzed group, 40% belonged to a known risk group, only 22% had annual screening before the CD diagnosis (the longest for 9 years), and 19% showed no symptoms at the time of the CD diagnosis. Our research confirmed the applicability of the "no-biopsy" approach for the diagnosis of CD in children and adolescents in Poland, and also showed changes in the clinical picture of CD. Moreover, we highlight the need to introduce broad CD serological screening in risk groups of the Polish population.