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.

Analysis of the prevalence of asymmetry and muscle tone disorders in the first year of life among youth with idiopathic scoliosis: A retrospective case-control study.

BACKGROUND: Not much is known about developmental motor disorders in the first year of life of children diagnosed with idiopathic scoliosis (IS). OBJECTIVE: This study aimed to compare the occurrence of asymmetry or muscle tone disorders in the first year of life in adolescents with IS and their healthy counterparts. METHODS: The parents of adolescents with IS and without scoliosis completed a survey on the occurrence of asymmetry, abnormal muscle tone, and physiotherapy in their children in the first year of life. Pearson's chi square test and Cramer's coefficient were used. RESULTS: The final analysis included 527 surveys completed by parents of adolescents with idiopathic scoliosis (150) and without scoliosis (377). A significantly higher frequency of asymmetry (p= 0.001) and muscle tone disorders (p= 0.001) was noted in adolescents with idiopathic scoliosis. The results also revealed a significant association between scoliosis and asymmetry (p= 0.001), as well as muscle tone (p= 0.001). CONCLUSIONS: Developmental asymmetry or improper muscle tone in the first year of life could be considered a potential factor in the development of scoliosis; however, this hypothesis should be confirmed in future studies. Infants diagnosed with developmental disorders require systematic observation.

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.

Peripheral quantitative computed tomography of the lower leg in children and adolescents: bone densities, cross-sectional sizes and muscle distribution reference data.

OBJECTIVES: Peripheral quantitative computed tomography is utilised in increasing numbers of paediatric studies, however, very little is known about the reference limits for pQCT tibia measurements. The purpose of this study was to establish country-specific reference data for bone densities, cross-sectional sizes, strength and regional muscle distribution measured by pQCT in children and adolescents. METHODS: Stratec XCT 2000L apparatus was used. The measurement sites were 4%, 14%, 38% and 66% of the tibia length. The study group consisted of 222 participants (103 girls) aged 4,3-19,4 yrs. ANCOVA was used to assess the main determinants of pQCT outcomes. The LMS method was used to fit the percentile curves for each outcomes. RESULTS: Weight and age were the main determinants for most of the pQCT outcomes. Smoothed percentile curves were developed by age and by height for both sexes. CONCLUSION: In this study we present reference data for bone densities, cross-sectional size and strength as well as for regional muscle distribution measured by pQCT at certain sites of the lower leg to allow simple calculation of reliable Z scores.

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.

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.

Peripheral quantitative computed tomography of the distal and proximal forearm in children and adolescents: bone densities, cross-sectional sizes and soft tissues reference data.

OBJECTIVES: Peripheral quantitative computed tomography (pQCT) is gaining popularity in the field of paediatric bone densitometry, however, very little is known about reference limits. The purpose of this study was to develop country-specific reference data for bone densities, cross-sectional sizes, strength and regional tissue distribution measured by pQCT at the distal and proximal forearm in children and adolescents aged 5-19 yrs. METHODS: Stratec XCT 2000L apparatus was used. Measurement sites were 4% and 66% of the forearm length on non-dominant arm. Studied group comprised 221 participants (103 girls) aged 4.5-19.5 yrs. The LMS method was used to fit percentile curves for each outcomes. RESULTS: Smoothed percentile curves were developed for following outcomes: trabecular volumetric bone mineral density, total volumetric bone mineral density, distal total bone cross-sectional area, cortical volumetric bone mineral density, cortical cross-sectional area, proximal total bone cross-sectional area, polar strength strain index, fat cross-sectional area and muscle cross-sectional area. CONCLUSIONS: In this study we present reference data for bone densities, cross-sectional size and strength as well as for regional tissue distribution measured by pQCT at the distal and proximal forearm in children 5-19 yrs in a way allowing simple calculation of reliable Z scores.

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.

Could lower leg Wartenberg test be used as a predictor of restrictions in temporomandibular joint movements in CP patients?

PURPOSE: Patients with spasticity suffer not only from neurological problems but also from various dentistry problems due to spasticity of the jaw muscles. Measurements of motion in temporomandibular joints should reflect the amount of abnormal muscle tone of these muscles. The aim of this study was to find out if the measurements of temporomandibular joint movements performed with the ultrasound Zebris device are different in cerebral palsy patients than in healthy subjects; and to find out if the information on the degree of spasticity in the lower legs provided by the Wartenberg test could be used to predict the degree of spasticty in the jaw muscles. METHOD: Twenty five healthy subjects and 25 cerebral palsy patients participated in the study. Two types of measurements were performed: temporomandibular movements measured with Zebris device, and instrumented Wartenberg test. RESULTS: The laterotrusion and opening movements are different in CP patients than in healthy subjects. Laterotrusion movement correlates with velocity measured during the Wartenberg test. CONCLUSION: This finding suggests that high spasticity in the lower legs could indicate jaw movement restrictions in CP patients.

Influence of the structural deformity of the spine on the gait pathology in scoliotic patients.

Scoliosis is not only a spinal deformity, but also leads to the development of a pathological gait pattern. Nearly all studies examining walking in scoliotic patients report some degree of gait abnormality, however the results are somewhat contradictory. Therefore the aim of this study is to explore the relationship between gait pathology and degree of scoliotic deformity in a group of patients with idiopathic scoliosis. Sixty three females with idiopathic scoliosis, aged between 12 and 17 participated in the study. They were not treated previously, neither surgically, nor conservatively. They underwent objective gait analysis with a VICON 460 system. Data for the following parameters were analysed: gait velocity, cadence, step length, pelvic tilt, pelvic retraction, pelvic range of motion in the transverse plane, pelvic obliquity, hip and knee range of motion in the sagittal plane, knee flexion at initial contact, ankle dorsiflexion in swing, foot progression angle. Additionally a Gillette Gait Index (GGI) was calculated. Prior to the gait analysis all patients underwent a clinical examination, an X-ray, clinical tests and anthropometric measurements. In conclusion our results indicate that the gait pathology of the patients with idiopathic thoraco-lumbar (i.e. double curve) scoliosis depends on the severity of the spinal deformity and the type of pelvic deformity.

Does the gait pathology in scoliotic patients depend on the severity of spine deformity? Preliminary results.

The gait pattern in scoliotic patients differed from the gait pattern of the healthy subjects. The aim of the present paper was to describe the dependence of the gait pathology on the severity of the spinal deformity. Thirty five patients with confirmed scoliosis participated in the study. All patients underwent the clinical examination (X-ray and anthropometric measurements) as well as the objective gait analysis. Based on clinical examination the patients were divided into subgroups according to six different criteria. The gait parameters were compared between these subgroups. Most of the assessed variables do not depend on the clinical variables, describing the severity of the spinal deformity. The two gait parameters which depend on the clinical variables are pelvic obliquity and step length. The results show that the obliquity increases with the Cobb angle. The step length decreases with the increasing Cobb angle and with the sum of angles describing the spinal deformity in sagittal and frontal planes. The evaluation of the gait pattern of scoliotic patients and the establishment of its dependence on the spinal deformity are of importance for the treatment of these subjects.