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.

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.

Analysis of the movements of the upper extremities during gait: Their role for the dynamic balance.

BACKGROUND: The movement of the upper extremities is important for balance control in human walking. However, it is still unknown which mode of arm swing ensures the most stable gait due to the lack of appropriate measures which can quantify the movement of the upper extremities. In this study, we formulate a new parameter to numerically describe the arm swing. We investigated the effect of walking speed, sports activities and the subject's BMI on the movement of the upper limbs. METHODS: Data of healthy 50 subjects from an external database was used. We used a human gait database for this analysis. All experimental trials were performed in Centre National de Rééducation Fonctionnelle et de Réadaptation - Rehazenter in Laboratoire d'Analyse du Mouvement et de la Posture in Luxembourg. Participants were asked to walk on a straight level walkway at 5 different speeds: 0-0.4 m/s, 0.4-0.8 m/s, 0.8-1.2 m/s, self-selected spontaneous and fast speeds. The human motion was recorded by using a 10-camera optoelectronic system. FINDINGS: The amplitude of arm swing was greater in gait with self-selected fast speed then in slow walking. Higher walking speeds entailed also the more structured and repetitive movement of the upper extremities. For self-selected fast speed, the mean value of Pearson's correlation coefficient between arm swing amplitude of the left and right side was 0.935 ± 0.102, 0.943 ± 0.073 and 0.973 ± 0.020 for the young, middle aged and elderly group respectively, while in slow walking it was in the range 0.393-0.633 (for the representatives of the three groups). Our results could suggest other factors which influence arm swing, such as obesity and doing asymmetric sports. INTERPRETATIONS: Our results suggest that choosing the lowest possible walking speed is not the best strategy as the most symmetric arm swing occurs during gait with self-selected speed.

How to Define Pediatric Flatfoot: Comparison of 2 Methods: Foot Posture in Static and Dynamic Conditions in Children 5 to 9 Years Old.

LEVELS OF EVIDENCE: Prospective cohort study.

Foot Plantar Pressure Abnormalities in Near Adulthood Patients with Type 1 Diabetes.

Increased ulcer risk diminishes the quality of life in diabetes. This study assessed abnormalities in foot plantar pressure distribution in adolescents with T1D to detect early signs of ulcer risk. A total of 102 T1D patients, without diabetic neuropathy, were included (mean age 17.8 years, mean diabetes duration 7.4 year). Pedography was captured using Novel emed. Data from the study group were compared with reference data. The study revealed a statistically significant reduced foot contact area in both feet in the entire foot and under the head of the fifth metatarsal bone and the second toe. In both feet, the peak pressure was increased under the entire foot, hindfoot, midfoot, first metatarsal head, big toe, and second toe. There was no statistically significant difference in peak pressure. The mean plantar pressure rating was statistically significantly increased in both feet across the entire sole, in the hindfoot, midfoot, and first metatarsal head. T1D patients of age near adulthood without neuropathy have increased values in mean pressure and reduced contact area, pointing to the need of monitoring and preventive measures. These results point to the need of further research and analysis which should include various risk factor such as foot anatomy, body posture, or certain metabolic factors.

Discriminant analysis involving serum cytokine levels and prediction of the response to therapy of patients with Hodgkin lymphoma.

Current standard diagnostic methods do not identify patients with Hodgkin lymphoma (HL), who are at high risk of failure after the first-line treatment. In HL patients, serum cytokine levels are frequently elevated and correlate with clinical and pathological features of the disease as well as with disease-free survival and overall survival. The aim of this study was to investigate if pretreatment serum cytokine and cytokine receptor concentrations evaluated by discriminant analysis could be predictive of response to standard first-line treatment in HL. The study involved 48 previously untreated patients with histologically confirmed classical HL and no EBV infection. Treatment included chemotherapy and involved field radiotherapy or radiotherapy alone. At the end of treatment, 71 % of patients reached complete response (CR), and 29 %, in partial response. To identify parameters predictive of nonachievement of CR after the first-line treatment, the discriminant analysis was used. The following variables were included in the analysis: clinical stage, sex, age, histologic subtype, bulky mediastinal mass, systemic symptoms and the number of involved nodal areas, lactate dehydrogenase (LDH) activity, and serum levels of 12 cytokines/cytokine receptors. The resulting classifying function assigned a discriminant power to the following variables: the levels of vascular endothelial growth factor, interleukin-8, macrophage colony stimulating factor, basic fibroblast growth factor, soluble tumor necrosis factor receptor I, and LDH activity. The accuracy of predicting CR and non-CR was 94 and 43 %, respectively.

Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.

AIM: The aims of the study were to assess shoulder range of motion (ROM) in patients with mucopolysaccharidosis type II (MPS II) and to correlate joint mobility with patients' height, age and functional status. METHODS: Passive ROM and Z-score of height were followed in 29 patients with MPS II (mean age 11.5 years, range 2-29 years) between the years 2005 and 2010. Passive ROM was measured by a goniometer, and height, by a stadiometer. Functional status was assessed by an age-appropriate health assessment questionnaire (HAQ). RESULTS: (i) A strong correlation was observed between patients' age and Z-score of patients' height (R = 0.78, p < 0.001). (ii) A medium correlation was observed between Z-score of patients' height and passive shoulder flexion and abduction (R = 0.697, p < 0.001 and R = 0.63, p < 0.001, respectively). The progression of restriction was slower in attenuated patients. (iii) Restrictions in shoulder flexion and abduction were already observed before the second year of life. (iv) ROM limitations intensified and became more severe with age. (v) Activities of daily living depended on cognitive impairment of patients with MPS II. CONCLUSION: Range of motion limitations in patients with MPS II correlate with patients' height, increase with patients' age and are more pronounced in a severe form of MPS II.

Congenital brain tumors in a series of 56 patients.

INTRODUCTION: Central nervous system tumors diagnosed before the end of the first year of life differ from those found in older children and in adults. The differences include mode of clinical presentation, anatomical distribution, histopathological diagnoses, response to therapy, and outcome. MATERIALS AND METHODS: The material consists of 56 children (23 girls and 33 boys), aged at recognition 32 Hbd-12 months. We reviewed charts and MR exams according to age of the onset of symptoms, location of tumors, treatment, histopathology, and outcomes. Data of the outcome were analyzed using Kaplan-Meier plots and chi-square test. RESULTS: Eleven cases were recognized before 6 weeks of life, 24 before the age of 6 months, and 21 were diagnosed up to the end of 1 year of age. Thirty-eight tumors were located in the supratentorial compartment; 18 were infratentorial. Median age of tumors' recognition was 5.2 months; 4.3 months for supratentorial and 7.2 months for infratentorial tumors. We found 18 glial cell tumors (high and low grade), 15 embryonal tumors, and 12 choroid plexus tumors. CONCLUSIONS: The outcome of congenital CNS tumors depends on the size, location, time of diagnosis, histological type of the tumor, and therapeutic option. Neurosurgical procedures are necessary in most cases. Despite the notable advances in therapy, the outcome remains poor.

Kinematic and Electromyography Responses to Increasing Proprioception Demand and a Lack of Visual Feedback in Healthy, Middle-Aged Women Tested on an Unstable Platform.

The purpose of the study was to investigate which changes in kinematics and muscle activity in healthy, middle-aged women are introduced to maintain balance on an unstable platform. Biodex Balance System tests were used in stable and unstable modes (sudden with eyes open/closed and gradual with eyes open). Simultaneously, lower-extremity kinematics and surface electromyography of back and legs muscles were captured. The dependence between balance scores, movement ranges, and root mean square of electromyography was assessed with multiple regression to evaluate the strategy used. The results showed multisegmental movements in sudden instability, and activity of at least one of the following muscles: gluteus maximus, erector spinae, and soleus in all conditions. Best balance scores were achieved when movements appeared in pelvis in transverse, and hip in frontal planes, worst when in pelvis in frontal, hip, and ankle in sagittal planes, and when mentioned muscles were activated. Further research is needed to identify the determinants of strategy choice.

Using the TUG Test for the Functional Assessment of Patients with Selected Disorders.

One of the tests used for quantitative diagnostics is Timed Up-and-Go (TUG), however, no reports were found regarding the percentage share of individual test components, which seems to have a greater diagnostic value in differentiating the functional status of the patients. The aim of the study was to analyze the percentage of the individual components of the TUG test in functional assessment in a population of healthy children and in clinical trials patients with various diseases. MATERIAL AND METHODOLOGY: The material consisted of patients with orthopedic (n = 165), metabolic (n = 116) and neurological dysfunctions (n = 96). RESULTS: The components of the TUG test that differentiated the studied groups of patients to the greatest extent were in the order: relapse tug3%, initial transition tug2%, sitting tug5% and standing up tug1%, while during the final transition tug4% statistically significant differences were found only between healthy children and the studied groups of patients. CONCLUSIONS: The TUG test turned out to be a good diagnostic tool, differentiating the studied groups of patients. The analysis of the percentage of the components of the TUG test can help in assessing the mobility of children and adolescents, monitor the effects of physiotherapy or the effects of surgical procedures.

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

PURPOSE: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome. METHODS: A single-center, retrospective analysis was performed of patients with documented TSC seen from 1988 to 2010 at the Children's Memorial Health Institute, Warsaw, Poland. KEY FINDINGS: Sixty-two patients were analyzed, and there was a significant correlation between younger age at the first seizure and developmental delay. The patients who did not develop seizures had normal development, despite some presenting with higher tuber load than those with seizures. There was a statistically significant negative correlation between the number of tubers within the right temporal lobe and cognition. SIGNIFICANCE: Our findings confirm our hypothesis that the cognitive outcome in TSC is more dependent on the age of the seizure onset rather than on the tuber count.

The impact of two weeks of traditional therapy supplemented with virtual reality on balance control in neurologically-impaired children and adolescents.

BACKGROUND: The aim of the study was to assess whether two weeks of therapy (traditional and VR) may improve balance in children and adolescents with neurological problems of different origins and whether the deterioration in gait dynamic balance showed by patient's ground reaction forces (GRF) determinates therapy effectiveness. METHODS: 29 participants aged 9-17 attended traditional therapy supplemented by tailor-made games. Therapy comprised exercises improving balance, range of motion, posture control, proprioception, muscle strength. Biodex Balance System was used for main assessment before and after therapy in tests: Postural Stability, modified Clinical Test of Sensory Integration and Balance, and Limits of Stability. Participants underwent gait analysis before the therapy to determine GRF. An increased maximal lateral component or decreased maximal anterior component in the push-off phase taking place in both legs were regarded as deterioration. This enabled the division into two groups with and without such a deterioration. Results were compared between the groups before and within groups before and after therapy. RESULTS: The precision of forward-backwards body sway improved most significantly in the group with decreased GRF and reached the level of the second group, who worsened antero-posterior repeatability during stance on an unstable surface with eyes open. CONCLUSION: Two weeks of combined traditional and VR therapy tailored to patients' functional weakness positively influenced the balance of neurologically impaired children. The group with decreased gait dynamic balance improved the tasks, which were intensively trained in the games. The second group remained more spontaneous in the trained direction.

Effect of Plano-Valgus Foot on Lower-Extremity Kinematics and Spatiotemporal Gait Parameters in Children of Age 5-9.

Aim of the study was to see how a definition of the flexible flat foot (FFF) influences the results of gait evaluation in a group of 49 children with clinically established FFF. Objective gait analysis was performed using VICON system with Kistler force platforms. The gait parameters were compared between healthy feet and FFF using two classifications: in static and dynamic conditions. In static condition, the ink footprints with Clarke's graphics were used for classification, and in dynamic condition, the Arch Index from Emed pedobarograph while walking was used for classification. When the type of the foot was based on Clarke's graphics, no statistically significant differences were found. When the division was done according to the Arch Index, statistically significant differences between flat feet and normal feet groups were found for normalized gait speed, normalized cadence, pelvic rotation, ankle range of motion in sagittal plane, range of motion of foot progression, and two parameters of a vertical component of the ground reaction force: FZ2 (middle of stance phase) and FZ3 (push-off). Some statically flat feet function well during walking due to dynamic correction mechanisms.