Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up

OBJECTIVES: To study (1). changes in anthropometrics, joint range of motion (ROM), muscle strength, functional ability, caregiver assistance, and level of ambulation in children with osteogenesis imperfecta (OI) and (2). the prediction of clinical characteristics at the level of ambulation at follow-up and the prediction of clinical characteristics on progression or regression at the level of ambulation over time. DESIGN: Prospective study with follow-up of 4 years. SETTING: A children's hospital that serves a nationwide center for treatment and research in children with OI in the Netherlands. PARTICIPANTS: At follow-up, 49 children (24 boys, 25 girls; mean age +/- standard deviation, 11.3+/-3.8y; range, 5.2-19.4y) participated. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Anthropometry, joint ROM, muscle strength, fracture frequency, intramedullary rodding, level of ambulation, functional ability, and caregiver assistance. RESULTS: In type I OI, total joint ROM decreased significantly over time, especially in the lower extremities, with a significant decrease in generalized joint hypermobility according to Bulbena (median start, 7.5; interquartile range [IQR], 4-9; median end, 6; IQR, 2-7; P<.001). In types III and IV, a severe decrease in total joint ROM was present without significant changes over time. No significant changes in total muscle strength (upper or lower extremities) in the different types of OI were measured at follow-up. In OI type I, a significant increase in self-care (P=.003) and social function (P=.008) was measured; in type III, a significant increase in self-care (P=.003), mobility (P=.004), and social function (P=.005) was measured, with a significant decrease in parental assistance in self-care (P=.02) and mobility (P=.005). In type IV, a significant increase was observed in the self-care (P=.01) and social function domains (P=.02). Type of OI (regression coefficient=-1.0; 95% confidence interval [CI], -1.64 to -0.47) and total muscle strength were the only significant predictors for level of ambulation (regression coefficient=.01; 95% CI,.17-.32). Body weight was significantly lower in the group that progressed in level of ambulation (P=.03), whereas children with a decline in level of ambulation had significantly higher body weight (P=.05). CONCLUSIONS: Ours is the first study with a long-term follow-up that provides information concerning the natural course of developmental outcome parameters of OI in childhood. Joint ROM and muscle strength did not change significantly over time, possibly because of the biomechanical skeletal properties of the different OI types. Functional ability improved significantly over time, but, especially in types III and IV, did not reach normative values, possibly because of a plateau phase in functional ability. Knowledge of the natural course of the disease is essential to interpret the results from intervention studies.     

Effect of duration of upper- and lower-extremity rehabilitation sessions and walking speed on recovery of interlimb coordination in hemiplegic gait

BACKGROUND AND PURPOSE: The effects of different durations of rehabilitation sessions for the upper extremities (UEs) and lower extremities (LEs) on the recovery of interlimb coordination in hemiplegic gait in patients who have had a stroke were investigated. SUBJECTS AND METHODS: Fifty-three subjects who had strokes involving their middle cerebral arteries were assigned to rehabilitation programs with (1) an emphasis on the LEs, (2) an emphasis on the paretic UE, or (3) a condition in which the paretic arm (UE) and leg (LE) were immobilized with an inflatable pressure splint (control treatment). The 3 treatment regimens were applied for 30 minutes, 5 days a week, during the first 20 weeks after onset of stroke. All subjects also participated in a rehabilitation program 5 days a week that consisted of 15 minutes of UE exercises and 15 minutes of LE exercises in addition to a weekly 11/2-hour session of training in activities of daily living. A repeated-measures design was used. Differences among the 3 treatment regimens were evaluated in terms of comfortable and maximal walking speeds. In addition, mean continuous relative phase (CRP) between paretic arm and leg (PAL) movements and nonparetic arm and leg (NAL) movements and standard deviations of CRP of both limb pairs as a measurement of stability (variability) were evaluated. RESULTS: Comfortable walking speed improved in the group that received interventions involving the LEs compared with the group that received interventions involving the UEs and the group that received the control treatment. No differences among the 3 treatment conditions were found for the mean CRP of NAL and PAL as well as the standard deviation of CRP of both limb pairs. DISCUSSION AND CONCLUSION: With the exception of an improved comfortable walking speed as a result of a longer duration of rehabilitation sessions, no differential effects of duration of rehabilitation sessions for the LEs and UEs on the variable we measured related to hemiplegic gait were found. Increasing walking speed, however, resulted in a larger mean CRP for both limb pairs, with increased stability and asymmetry of walking, indicating that walking speed influences interlimb coordination in hemiplegic gait.     

Osteogenesis imperfecta in childhood: Treatment strategies

Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature, and progressive skeletal deformities. Additional clinical manifestations such as blue sclerae, dentinogenesis imperfecta, joint laxity, and maturity onset deafness are described in the literature. OI occurs in about 1 in 20,000 births and is caused by quantitative and qualitative defects in the synthesis of collagen I. Depending on the severity of the disease, a large impact on motor development, range of joint motion, muscle strength, and functional ability may occur. Treatment strategies should primarily focus on the improvement of functional ability and the adoption of compensatory strategies, rather than merely improving range of joint motion and muscle strength. Surgical treatment of the extremities may be indicated to stabilize the long bones to optimize functional ability and walking capacity. Surgical treatment of the spine may be indicated in patients with progressive spinal deformity and in those with symptomatic basilar impression.     

成年血友病患者生活质量及其影响因素分析

目的:了解中国成年血友病患者的生活质量(QOL)现状并探讨其可能的影响因素。方法:选取成年男性血友病患者72例。分别采用健康状况调查问卷(SF-36)、血友病功能独立性评分(FISH)和血友病关节健康评估表(HJHS)对患者进行QOL、日常生活活动能力(ADL)及关节健康状况的评估。结果:72例患者SF-36评分为(422.04±143.19)分,其中躯体健康所致的角色受限(RP)评分最低(20.21±12.96)分。SF-36总分及躯体功能(PF)评分与患者文化程度和FISH评分呈正相关(P0.05)。SF-36总分与受累关节数、HJHS总分及其中关节周围肌肉状况、关节活动度、关节疼痛、关节摩擦音评分呈负相关(P0.05)。PF评分与患者年龄、受累关节数、肌肉出血部位数、HJHS总分及肌肉状况、关节活动度、关节疼痛、关节摩擦音和步态评分均呈负相关(P0.05),且与HJHS总分和肌肉评分的Pearson系数也较高。结论:成年血友病患者QOL低下,受累关节数量、关节健康状况、ADL能力和文化程度与其PF和QOL密切相关。减少关节出血,改善关节健康状况,尤其是加强肌肉力量训练,提高ADL能力和受教育程度可能有助于提高患者QOL。     

Feedback-controlled and programmed stretching of the ankle plantarflexors and dorsiflexors in stroke: effects of a 4-week intervention program

OBJECTIVE: To investigate the effect of repeated feedback-controlled and programmed "intelligent" stretching of the ankle plantar- and dorsiflexors to treat subjects with ankle spasticity and/or contracture in stroke. DESIGN: Noncontrolled trial. SETTING: Institutional research center. PARTICIPANTS: Subjects with spasticity and/or contracture after stroke. INTERVENTIONS: Stretching of the plantar- and dorsiflexors of the ankle 3 times a week for 45 minutes during a 4-week period by using a feedback-controlled and programmed stretching device. MAIN OUTCOME MEASURES: Passive and active range of motion (ROM), muscle strength, joint stiffness, joint viscous damping, reflex excitability, comfortable walking speed, and subjective experiences of the subjects. RESULTS: Significant improvements were found in the passive ROM, maximum voluntary contraction, ankle stiffness, and comfortable walking speed. The visual analog scales indicated very positive subjective evaluation in terms of the comfort of stretching and the effect on their involved ankle. CONCLUSIONS: Repeated feedback-controlled or intelligent stretching had a positive influence on the joint properties of the ankle with spasticity and/or contracture after stroke. The stretching device may be an effective and safe alternative to manual passive motion treatment by a therapist and has potential to be used to repeatedly and regularly stretch the ankle of subjects with spasticity and/or contracture without daily involvement of clinicians or physical therapists.     

Self-worth, perceived competence, and behaviour problems in children with cerebral palsy

Purpose. To examine the relevance of physical disabilities for self-worth and perceived competence in children with cerebral palsy (CP), and to examine associations between behaviour problems and self-worth and perceived competence.

Methods. The Harter scales for self-worth and perceived competence and a new scale for perceived motor competence were used in a sample of 80 children with CP. Their motor functioning was assessed with the Gross Motor Functioning Measure (GMFM) and behaviour problems with the Child Behaviour Check List administered to parents.

Results. Self-worth and perceived competence for children with CP were comparable to the Dutch norm sample, except for perceived athletic competence. Within the CP sample, the GMFM showed a domain-specific effect on perceived motor competence. In the multivariate analysis, internalizing problems were associated negatively with all perceived competence scales and self-worth, whereas aggression was positively associated with perceived motor competence, physical appearance, and self-worth.

Conclusions. Children with CP appear resilient against challenges posed to their self-worth caused by their disabilities. The relevance of the physical disability appears to be domain specific. For internalizing problems and aggression, different theoretical models are needed to account for their associations with self-worth and perceived competence.     

Limitations in activities in patients with osteoarthritis of the hip or knee: The relationship with body functions,comorbidity and cognitive functioning

Purpose. To determine the relationship between body functions, comorbidity and cognitive functioning on the one side and limitations in activities on the other, in elderly patients with osteoarthritis (OA) of the hip or knee.

Method. A cross-sectional cohort study was conducted in which 288 patients with hip or knee OA were included. Patients were recruited from rehabilitation centres and hospitals (Departments of Orthopedics, Rheumatology or Rehabilitation). Apart from demographic and clinical data, information about limitations in activities, body functions (pain, muscle strength, range of joint motion), comorbidity and cognitive functioning was collected by questionnaires and tests. Statistical analyses included univariate and stepwise multivariate regression analysis.

Results. Self-reported limitations in activities (Western Ontario and McMaster Universities Osteoarthritis Index) were significantly associated with pain, muscle strength knee extension, range of motion (ROM) hip flexion and morbidity count. Performance-based limitations in activities (timed walking test) were significantly associated with ROM (knee flexion, hip flexion and knee extension), muscle strength hip abduction, pain, cognitive functioning and age.

Conclusions. Self-reported limitations in activities in hip or knee OA are largely dependent on pain and to a lesser extent on range of joint motion, muscle strength and comorbidity. Performance-based limitations in activities are largely dependent on range of joint motion and muscle strength, and to a lesser extent on pain, cognitive functioning and other factors. These findings point to the role of body functions in limitations in activities in OA of the hip or knee. Although less important, comorbidity and cognitive functioning play a role as well.     

Evaluation of a child's perceived self-competence during treatment for cancer

The purpose of this study was to evaluate the effect of self-hypnosis on the perceived self-competence of children undergoing treatment for cancer and to determine longitudinal differences in perception of self-competence over time. Twenty-two children were randomized into an experimental group (taught self-hypnosis) and a control group (given standard care). Data were collected using the Harter Perceived Self-Competence Profile (HPSCP) during four courses of chemotherapy. A decrease in mean scores for the control group was found compared with the hypnosis group, which showed an increase in mean scores in five of six domains. Both groups showed a statistically significant increase in the scholastic cognitive domain and social acceptance domain from the time of diagnosis compared with the second test period. Ten children had a visible physical disability. These children were found to have significant decreases in the domains of athletic competence, social acceptance, and global self-worth. Decreases remained significant throughout all test periods in the athletic competence domain for the children with a visible physical disability. This study is unique in that the researchers evaluated children's perception of self-competence over time. These findings support previous studies and identify the need for nurses to become actively involved in helping children develop effective coping skills during chemotherapy for cancer.     

Self-worth,perceived competence,and behaviour problems in children with cerebral palsy

Purpose. To examine the relevance of physical disabilities for self-worth and perceived competence in children with cerebral palsy (CP), and to examine associations between behaviour problems and self-worth and perceived competence.

Methods. The Harter scales for self-worth and perceived competence and a new scale for perceived motor competence were used in a sample of 80 children with CP. Their motor functioning was assessed with the Gross Motor Functioning Measure (GMFM) and behaviour problems with the Child Behaviour Check List administered to parents.

Results. Self-worth and perceived competence for children with CP were comparable to the Dutch norm sample, except for perceived athletic competence. Within the CP sample, the GMFM showed a domain-specific effect on perceived motor competence. In the multivariate analysis, internalizing problems were associated negatively with all perceived competence scales and self-worth, whereas aggression was positively associated with perceived motor competence, physical appearance, and self-worth.

Conclusions. Children with CP appear resilient against challenges posed to their self-worth caused by their disabilities. The relevance of the physical disability appears to be domain specific. For internalizing problems and aggression, different theoretical models are needed to account for their associations with self-worth and perceived competence.     

步态诱发功能性电刺激改善痉挛型双瘫型脑瘫患儿下肢运动功能的疗效观察

摘要 目的：探讨功能性电刺激（FES）对痉挛型双瘫型脑瘫患儿下肢功能的影响。 方法：25例痉挛型双瘫型脑瘫患儿随机分为FES组（n=14）及对照组（n=11）,两组均进行运动训练、物理疗法等。对照组在此基础上进行步行训练30min,每天1次,每周5d,共12周。前6周FES组在此基础上应用FES对双侧腓总神经进行神经肌肉电刺激（NMES）治疗,同时进行步行训练30min,每天1次,每周5d。后6周FES组在此基础上进行步行训练30min,每天1次,每周5d。在治疗前、治疗6周和治疗12周后,分别进行腓肠肌痉挛评分（改良Ashworth 分值,MAS）、踝关节主动背屈活动度（ROM）和粗大运动功能量表（GMFM-88）之D区（站立）、E区（走跑跳）评定。 结果：两组患儿治疗6周和12周后,踝关节ROM增加,GMFM之D区（站立）评分提高,与各自治疗前相比,差异均有显著性意义(P<0.05或0.01);FES组患儿治疗6周和12周后,对照组患儿治疗12周后,MAS评分及GMFM-88之E区分值均优于治疗前(P<0.05或0.01)。治疗6周和12周后,FES组MAS、踝关节ROM及GMFM-88之D区（站立）、E区（走跑跳）等指标均优于对照组,差异有显著性意义（P<0.05或0.01）。 结论：FES配合康复功能训练能降低痉挛型双瘫型脑瘫患儿的下肢肌张力,增加踝关节活动度,提高下肢运动功能。     

医疗体操配合综合理疗治疗肩周炎

目的:探讨医疗体操配合综合理疗对肩周炎的疗效。方法:我们采用综合手段治疗28例肩周炎同时用肩关节功能评价量表在治疗前后对肩关节疼痛、关节活动的范围、日常生活能力、肌力及形态进行综合评定。结果:治愈6例,显效13例,好转7例,无效2例,有效率达90%,治疗后肩关节评定得分显著增加,P<0.05。结论:综合治疗对肩周炎有显著疗效。     

Functional roles of lower-limb joint moments while walking in water

OBJECTIVE: To clarify the functional roles of lower-limb joint moments and their contribution to support and propulsion tasks while walking in water compared with that on land. DESIGN: Sixteen healthy, young subjects walked on land and in water at several different speeds with and without additional loads. BACKGROUND: Walking in water is a major rehabilitation therapy for patients with orthopedic disorders. However, the functional role of lower-limb joint moments while walking in water is still unclear. METHODS: Kinematics, electromyographic activities in biceps femoris and gluteus maximums, and ground reaction forces were measured under the following conditions: walking on land and in water at a self-determined pace, slow walking on land, and fast walking in water with or without additional loads (8 kg). The hip, knee, and ankle joint moments were calculated by inverse dynamics. RESULTS: The contribution of the walking speed increased the hip extension moment, and the additional weight increased the ankle plantar flexion and knee extension moment. CONCLUSIONS: The major functional role was different in each lower-limb joint muscle. That of the muscle group in the ankle is to support the body against gravity, and that of the muscle group involved in hip extension is to contribute to propulsion. In addition, walking in water not only reduced the joint moments but also completely changed the inter-joint coordination. RELEVANCE: It is of value for clinicians to be aware that the greater the viscosity of water produces a greater load on the hip joint when fast walking in water.     

Selective dorsal rhizotomy improves muscle forces during walking in children with spastic cerebral palsy

BackgroundSelective dorsal rhizotomy aims to reduce spasticity in children with cerebral palsy. Early investigations indicated postoperative weakness, whereas more recent studies showed that selective dorsal rhizotomy either does not change or improves muscle strength. All previous studies assessed muscle strength in a static position, which did not represent the walking situation. The aim of this study was to analyze the influence of selective dorsal rhizotomy on muscle forces during gait.MethodsMotion capture data of 25 children with spastic cerebral palsy and 10 typically developing participants were collected. A musculoskeletal OpenSim model was used to calculate joint kinematics, joint kinetics and muscle forces during gait. Static optimization and an electromyography-informed approach to calculate muscle forces were compared. A Muscle-Force-Profile was introduced and used to compare the muscle forces during walking before and after a selective dorsal rhizotomy.FindingsIndependent of the approach used (electromyography-informed versus static optimization), selective dorsal rhizotomy significantly normalized forces in spastic muscles during walking and did not reduce the contribution of non-spastic muscles.InterpretationThis study showed that selective dorsal rhizotomy improves dynamic muscle forces in children with cerebral palsy and leads to less gait pathology, as shown in the improvement in joint kinematics and joint kinetics. Individual muscle force analyses using the Muscle-Force-Profile extend standard joint kinematics and joint moment analyses, which might improve clinical-decision making in children with cerebral palsy in the future. The reference data of our participants and MATLAB code for the Muscle-Force-Profile are publicly available on simtk.org/projects/muscleprofile.     

Increasing Perceptions of Self-Worth in Preadolescents Diagnosed with ADHD

Purpose: To test the effectiveness of a school-based, nurse-facilitated support group in increasing perceptions of scholastic competence, social acceptance, behavioral conduct, perceived athletic competence, perceived physical appearance, and perceived global self-worth in preadolescents diagnosed with attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD).
Design: A quasi-experimental design with 65 preadolescents diagnosed with ADD or ADHD in an upper-middle class community in the United States.
Methods: Participants randomly assigned to either the control or experimental group completed Harter's Self-Perception Profile for Children instrument at the beginning of the study and 4 weeks later. Students in the experimental condition participated in a school-nurse facilitated support group which met twice weekly for 4 weeks.
Findings: Participants in the support group had increased scores on each of the six subscales, with significant increases on four of the subscales, including perceived social acceptance, perceived athletic competence, perceived physical appearance, and perceived global self-worth.
Conclusion: Participation in a school-based, nurse-led support group was positively associated with perception of self-worth in preadolescents diagnosed with ADD or ADHD.     

人工全膝关节置换术后的早期康复

目的人工全膝关节置换术后进行康复活动,在于防止粘连,增加关节活动度和肌力,减少畸形,提高日常生活能力。方法我们制订了一整套的人工全膝关节置换术后的康复常规。自１９９６年在我院试用于２４例人工全膝关节置换术后患者（３５膝）,获得良好的早期临床效果。结果术后２０天,患者安静及行走时疼痛、行走距离、转移能力、肌力及屈曲畸形较术前明显改善,差异有显著性;拐杖的使用率及内外翻畸形较术前明显下降,差异有显著性;关节的稳定性较术前无明显差异;但关节的活动度较术前下降,差异有显著性;使用楼梯能力较术前无明显改善。结论全膝关节置换术后患者出院后仍须继续进行正确的肌力、关节活动度及日常生活能力的康复训练。     

Impairment and activity limitation associated with epiphyseal dysplasia in children

OBJECTIVES: To develop a profile of impairment and activity limitation among children with epiphyseal dysplasia (ED) and to identify the relationship between these 2 domains. DESIGN: Cross-sectional study. SETTING: Acute, pediatric academic and health sciences center. PARTICIPANTS: Eleven subjects with multiple epiphyseal dysplasia (MED) and 17 subjects with spondyloepiphyseal dysplasia (SED), with a mean age of 12.9 years. INTERVENTIONS: Not applicable.Main outcome measures Anthropometric indexes of growth and nutrition, joint range of motion (ROM) and alignment, muscle strength, pain, and activity limitation. RESULTS: Subjects with SED had significantly shorter stature than the reference population (P<.01). Seventy-three percent of participants with MED and 77% of those with SED were above average or overweight for their height (P<.01). Both groups presented with moderate to severe joint ROM impairment, with greater lower-extremity involvement. Subjects with SED had worse outcomes with respect to overall ROM and alignment impairments (P<.01), particularly in their upper extremities (P<.01), than subjects with MED. Significant overall muscle weakness was noted in all subjects (z=-1.81; P<.01). Ninety-four percent of subjects with SED reported pain with activity, compared with 64% of those with MED (P=.04), although pain intensity did not differ between groups. Fifty percent of subjects had undergone orthopedic surgery. Mild activity limitation was reported by all subjects (mean score, 87.7+/-18.83). Significant correlations were identified between height for age and strength (r=.50) and pain and activity limitation (r=-.50). CONCLUSIONS: Despite moderate to severe impairments, all subjects reported surprisingly mild activity limitation. A positive correlation was identified between pain and activity limitation. This study also identified and described patterns of muscle weakness, pain, and nutritional concerns not previously reported in the ED literature.     

膝骨关节炎患者股四头肌功能水平及髋关节步态运动学特征分析

目的:观察中老年膝骨关节炎(KOA)患者股四头肌功能水平及步行过程中髋关节的运动学特征。方法:选取18例KOA患者为KOA组,8例无KOA者为对照组,2组的年龄、身高、体重和身体质量指数(BMI值)相匹配。2组受试者均进行等速肌力测试、无线表面肌电测试及步态测试,测试及比较2组股四头肌峰力矩(PT值)、股内侧肌(VM)、股外侧肌(VL)和股直肌(RF)的积分肌电值(iEMG)、均方根值(RMS)、平均功率频率(MPF)及峰值髋内收、外展角度等和步行中髋关节的运动学特征,将股四头肌肌力与髋关节运动学特征进行相关性分析。结果:KOA组股四头肌等长和等速运动时PT值较对照组显著下降(P<0.01),VL在60°/s等速收缩时表面肌电信号RMS值显著高于对照组(P<0.05),RF在180°/s等速收缩时表面肌电信号RMS值显著高于对照组(P<0.01),步行时峰值髋关节内收及外展角度显著低于对照组(P<0.05),股四头肌肌力与髋关节运动学特征无相关。结论:KOA组较对照组股四头肌肌力显著降低,活动时神经支配效率显著下降,且步行过程中峰值髋内收、外展角度显著减少,股四...     

Direct, quantitative clinical assessment of hand function: usefulness and reproducibility

Methods of assessing functional impairment in arthritic hands include pain assessments and disability scoring scales which are subjective, variable over time and fail to take account of the patients' need to adapt to deformities. The aim of this study was to evaluate measures of functional strength and joint motion in the assessment of the rheumatoid (RA) and osteoarthritic (OA) hand. Ten control subjects, ten RA and ten OA patients were recruited for the study. All underwent pain and disability scoring and functional assessment of the hand using measures of pinch/grip strength and range of joint motion (ROM). Functional assessments including ROM analyses at interphalangeal (IP), metacarpophalangeal (MCP) and wrist joints along with pinch/grip strength clearly discriminated between patient groups (RA vs. OA MCP ROM P<0.0001), pain and disability scales were unable to. In the RA there were demonstrable relationships between ROM measurements and disability (R2=0.31) as well as disease duration (R2=0.37). Intra-patient measures of strength were robust whereas inter-patient comparisons showed variability. In conclusion, pinch/grip strength and ROM are clinically reproducible assessments that may more accurately reflect functional impairment associated with arthritis.