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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Balance assessment in healthy children and adolescents aged 6-18 years based on six tests collected on AMTI AccuSway force platform.

PURPOSE: The aim of the study was to compare the results of six balance tests collected on AMTI AccuSway Plus ACS force platform between healthy female and male children and adolescents. We also searched for possible correlation of the balance measures with subjects' age. METHODS: 228 healthy 6- to 18-year-old subjects (111 boys and 117 girls) participated in the study. Six balance tests were performed with the use of AMTI AccuSway Plus ACS platform: quiet standing for 30s, maximal voluntary sways of the body in the sagittal plane (anterior-posterior - AP test) for 30 s, and in the frontal plane (left-right - ML test) for 30s. All tests were performed in two conditions: eyes open and eyes closed. RESULTS: During quiet standing with eyes open, most balance measures were lower in girls ( p < 0.05). In AP and ML tests with eyes open, a few balance parameters were different between boys and girls ( p < 0.05). In quiet standing, AP and ML tests with eyes closed, there were no between-gender differences ( p > 0.05). In quiet standing with eyes open and closed most balance parameters were negatively correlated with age ( p < 0.05). CONCLUSIONS: Quiet standing postural sway characteristics depended on gender under normal visual conditions and it was similar in boys and girls under visual deprivation conditions. The vision was differently used by females and males in balance tasks. Static postural stability improved with age regardless of visual conditions.

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

CONCLUSION: VLCFA levels correlate with the severity of the clinical course of ZS, DBP and mild ZSD. The best predictive value for estimating the projected disease severity and survival time is a concentration of C26:0.

Biomechanical evaluation of swing-through crutch gait in patients with lower extremity injury.

PURPOSE: The main purpose was to determine the values of spatio-temporal parameters and ground reaction forces during the swingthrough crutch gait. METHODS: Eighteen male patients with unilateral injury within the foot, ankle or shank (age: 25.4 ± 7.7 years, body height: 1.79 ± 0.06 m, body mass: 76.1 ± 11.5 kg) participated in the study. In the experiment, 6-camera optoelectronic motion capture system and force platform were used. The measurements of spatio-temporal parameters and ground reaction force (GRF) were performed for uninjured lower extremity (ULE), crutch on the ULE side (CrU) and crutch on the injured lower extremity side (CrI). RESULTS: Analysis demonstrated a significantly longer stance phase and a significantly shorter swing phase for ULE than crutches ( p < 0.05), and a significantly longer first, compared to the second, double support phase ( p < 0.05). Comparisons showed also significantly higher maximum values of the vertical GRF and extreme values of the horizontal antero-posterior GRF for ULE than crutches ( p < 0.05) as well as for CrI than CrU ( p < 0.05). CONCLUSIONS: The present study provides biomechanical data related to the spatio-temporal parameters and GRFs for the swing-through crutch gait in patients with the lower extremity injuries.

How does applying of one or two orthosis influence gait parameters of children with hemiplegia?

The aim of this study was to evaluate how wearing one or two orthoses influence the gait parameters in children with hemiplegia. Four children with hemiplegic cerebral palsy participated in the study. Patients were from 3 to 7 years old; one girl and three boys; one patient with right side hemiplegia, three patients with left side hemiplegia. Patients underwent the VICON MX system gait analysis three times (sessions): one with bare feet, the other two with shoes and orthoses: one with orthoses used unilaterally on palsied limb, one with orthoses used bilaterally. The following gait parameters were analyzed: velocity, cadence, pelvis tilt, range of pelvic movement in sagittal plane, separately for affected and non-affected side: step length, stance time (as a percentage of the gait cycle), range of hip movement in sagittal plane, knee flexion at initial contact, maximum knee flexion in swing phase. Results of the study showed which and how many gait parameters changed while wearing one in comparison with two orthoses. The results did not give a clear indication which condition is better: wearing one or two orthoses, however they suggest that when the orthotic devices are considered for patients with hemiplegic cerebral palsy, the objective, instrumented gait analysis can be used to take the best decision whether one or two orthoses should be prescribed.

Balance control of children and adolescents suffering from vertigo symptoms: in what way posturography is helpful in clinical evaluation of vestibular system pathology?

PURPOSE: The aim of the study was to determine balance parameters in a group of young patients with vertigo symptoms and to verify posturography helpfulness in clinical evaluation of vestibular system pathology. METHODS: 77 children and adolescents of age 3-18 suffering from vertigo episodes participated in the study (46 girls, 31 boys). They underwent audiology objective tests and balance test on stable surface. Calculated balance parameters were analyzed in reference to: eyes opened and closed, age influence, sway comparison in anterior-posterior and medial-lateral, differences between subgroups with and without vestibular deficits. Discriminant analysis was performed to assess classification ability to impaired group in two cases: only balance parameters and both audiology and balance parameters. RESULTS: Patients with vertigo symptoms generally keep their balance properly on stable surface. Balance parameters do not depend on presence of vestibular system pathology. Values increased in eyes closed conditions. Left/Right and Anterior/Posterior differences were not statistically significant. The negative correlation between age and some balance parameters is present, stronger in the case of eyes opened and weaker or absent in vestibular impaired group. Also, correlations between axes were found, higher in impaired group in comparison with not impaired one. CONCLUSIONS: Discrimination based on balance parameters is poor not comparable to one built on combined: audiology and balance parameters, so typical balance parameters' analysis is not so useful in clinical practice when the reason of vertigo episodes should be assessed, but verify compensation process and measure with objective numbers the progress of recovering, the actual functional patient's status.

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.

Gait changes in patients after reconstruction of facial bones with fibula and iliac crest free vascularized flaps.

PURPOSE: Patients with malignant tumours of the oral cavity require its surgical removal and reconstruction of the bone and soft tissues. The grafts are obtained either from leg (fibula) or pelvis (iliac crest). The removal of grafts from the locomotor apparatus can impair the gait. The aim of this study was to find out how the localization of donor site influences the gait pattern. METHODS: Results obtained for 30 patients were analyzed (16 fibula graft, 14 iliac crest graft). Patients underwent instrumented gait analyses three times (VICON system): before surgery, 2-4 month after the surgery, and 4-8 months after the surgery. RESULTS: In both groups several gait parameters were changed. Two parameters changed in both groups: gait speed and cadence. In patients receiving iliac crest graft the changed gait variables were: pelvic rotation, hip range in sagittal plane (operated side), knee range in sagittal plane (operated side), foot dorsiflexion in swing on both sides. In patients receiving fibula flap the changed gait variables were: tilt, range motion of the tilt, minimum hip flexion (operated side), time to maximum knee flexion (non-operated side), GGI (non-operated side) and step length (nonoperated side). CONCLUSIONS: The primary gait deviations occurring after surgery, and the compensatory mechanisms which subsequently arise depend on the localization of graft donor site. The results indicate that the patients in whom fibula flap was used have less problems with gait pattern after the surgery than the patients receiving iliac crest graft.

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.

Are electromyographic patterns during gait related to abnormality level of the gait in patients with spastic cerebral palsy?

PURPOSE: One of the aims of the treatment in ambulant cerebral palsy (CP) patients is improvement of gait. The level of gait pathology is assessed by instrumented gait analysis, including surface electromyography. The aim of this study was to investigate the relation of the abnormality level of the gait and the co-contraction of the agonist-antagonist muscles, and relation between symmetry left /right leg in gait and symmetry of muscular activity. METHODS: Fifty one patients with cerebral palsy underwent clinical assessment and instrumented gait analysis, including surface electromyography. Signals were bilaterally collected from rectus femoris, medial and lateral hamstrings, tibialis anterior, lateral gastrocnemius and gluteus maximus. In older children additionally signals from soleus and lateral vastus were recorded. Sixteen gait variables were selected to calculate Gillette Gait Index, separately for left and right leg. From the envelopes a series of cross-correlation coefficients were calculated. RESULTS: Weak correlations were found between averaged agonistantagonist correlation coefficient and Gillette Gait Index. Differences between hemiparetic less-involved legs, hemiparetic spastic legs, and diplegic legs were found for co-contraction of rectus femoris and biceps femoris and for averaged agonist-antagonist co-contraction. The differences between hemiparetic and diplegic groups were found for some muscle correlation coefficients. CONCLUSIONS: The results obtained in this study show that the activity pattern of the leg muscles is specific to a given patient, and the dependence of the kinematics pathology on the abnormal activation pattern is not a direct one.