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.     

Osteogenesis imperfecta in childhood: perceived competence in relation to impairment and disability.

OBJECTIVES: To examine the perceived competence of children with different types of osteogenesis imperfecta (OI) and to investigate the possible relationships between their perceived competence and impairment parameters. DESIGN: Cross-sectional study. SETTING: National referral center (hospital) for the treatment of children with OI. PATIENTS: Forty children with OI (type I = 17; type III = 11; type IV = 12) with a mean age +/- standard deviation of 12.6 +/- 3.2 years. INTERVENTIONS: Measured joint range of motion (ROM) in the upper extremities (UEs), and lower extremities (LEs), muscle strength, functional skills, ambulation, and perceived competence. MAIN OUTCOME MEASURES: Joint ROM in UE and LE; muscle strength (using the manual muscle testing criteria of the Medical Research Council); functional skills using the Pediatric Evaluation of Disability Inventory in 3 domains (self-care, mobility, social function). Ambulation (according to Bleck and classified as nonwalking, therapy walking, household walking, neighborhood walking, community walking with or without the use of crutches), and perceived competence (using the Harter Self-Perception Profile for Children, which was cross-culturally validated for Dutch children). RESULTS: In children with type I, joint ROM and muscle strength were almost comparable to the healthy population. In children with type III, a severe decrease in joint ROM was measured, especially in the LEs, and muscle strength was severely decreased in the UEs and LEs. In children with type IV, joint ROM and muscle strength decreased, especially in the LEs. In all types, fairly to strongly positive perceived competence was measured except for fairly negative perceived competence in the athletic performance subscale in type I and a fairly negative perceived competence in the romance subscale in type III. No correlations were found between (1) joint ROM and athletic performance and physical appearance, (2) muscle strength and athletic performance or physical appearance, or (3) the functional skills, concerning self-care and mobility, with the subscales of the perceived competence. CONCLUSIONS: Although joint ROM, muscle strength, and functional and walking ability were related to the severity of the disease and differed significantly between the different types of OI, overall perceived competence in children with OI was fairly to strongly positive, without significant differences between the different types of OI.     

Relationships among selected measures of impairment, functional limitation, and disability in patients with cervical spine disorders

BACKGROUND AND PURPOSE: Little is known about the relationship among impairments, functional limitations, and disability in people with cervical spine disorders (CSD) despite the fact that these concepts are routinely used in clinical practice. The primary purpose of this study was to investigate the relationships among commonly assessed impairment, functional limitation, and disability measures in patients with CSD. A secondary purpose was to determine the influence of payment source and time since onset of symptoms on these same measures. SUBJECTS: Eighty patients (mean age=45.7 years, SD=15.9, range=20-88) with CSD who were referred for physical therapy participated in the study. METHODS: Data were obtained for 3 measures of impairment, 2 measures of functional limitation, and 3 measures of self-reported disability during the initial visit. RESULTS: All 3 sets of variables (ie, impairment, functional limitation, disability) correlated with each other, with the highest correlation occurring between the impairment measures and the functional limitation measures (r=.82). Other correlations were noted between individual variables. There was no effect of payment type or time since onset of symptoms on the variables. CONCLUSION AND DISCUSSION: Positive correlations were noted among the 3 sets of measures, which supports the assumption that impairments, functional limitations, and disability are related in patients with CSD.     

Functional consequences of joint impairment at age 79

A study of functional ability--in relation to joint impairment and disability--in 79-year-olds was performed on representative subsamples by interview (n = 134) and physical examination of joints (n = 89) as well as interview and functional tests regarding activities of daily living (ADL) (n = 84). Joint complaints of the lower extremities were more frequent than complaints of the upper extremities. Restricted knee motion had the highest correlation to disability of entering public transports. Previous sedentary workers were more disabled in ADL functions than those with a previous strenuous physical work. Correlation was found between low physical activity in the leisure time and impaired ADL functions. Low physical activity in the group with no definable disease was also correlated with greater social assistance. The reasons for commitment to institutional care were usually complex and, generally, not caused by joint impairment. Although disability had increased within the sample since age 70, at age 79 sixty per cent of the probands could still manage household tasks and personal care, and 69% did not require walking aids. The 79-year-olds thus display a high degree of musculoskeletal ability.     

Relationship between burden of care at home and functional independence level after stroke]

OBJECTIVE: To determine the relationship between functional disability assessed with the Functional Independence Measure (FIM) and burden of care in hemiplegic stroke patients living at home. METHOD: The population is constituted of stroke survivors, initially treated in an academic inpatient Physical Medicine and Rehabilitation unit. Assessments included an evaluation of impairments (aphasia, negligence, cognitive impairment, motor impairment : Fugl-Meyer (FM) scale), disability (Functional Independence Measure (FIM) ), and burden of care (physical assistance and supervision). RESULTS: Forty-five subjects and their caregiver completed the assessments. Time spent on physical assistance and supervision were significantly correlated with FM and FIM scores. Cognitive deficits correlated with supervision time but not with physical assistance time. DISCUSSION-CONCLUSION: These results confirm the predictive value of functional independence measure relative to burden of care in a population of stroke patients with hemiplegia living at home. These results show that cognitive impairments are more specifically correlated with supervision time. This must be confirmed by studies taking into account functional and cognitive conditions of the patient, functional and psychological conditions of life of caregiver and also economical and environmental conditions of life.     

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.     

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.     

Spina bifida at the sacral level: more than minor gait disturbances

OBJECTIVE: To investigate functional outcome in two groups of children with sacral level paralysis: myelomeningocele (MMC) versus lipomyelomeningocele (LMMC). Additionally both groups were compared with each other and when possible with reference values. DESIGN: Cross-sectional study by means of (1) clinical assessment, and (2) disability measurement. SETTING: Spina bifida outpatient clinic at a university hospital in the Netherlands. SUBJECTS: Sample of 30 children with MMC and 14 with LMMC. Mean age (SD) 6.0 (4.9) and 8.4 (4.9) years respectively. MAIN MEASURES: Muscle strength, ambulation level, motor performance (Bayley Scales of Infant Development (BSID) and Movement Assessment Battery for Children), and the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The majority of patients in both groups were normal ambulant, 14/21 (67%) in MMC and 9/14 (64%) in LMMC. Ambulation was strongly associated with muscle strength of hip abductors (odds ratio (OR): 13.5, 95% confidence interval (CI) 2.5-73.7), and ankle dorsal-flexor muscles (OR: 110, 95% CI 8.9-135.9). No significant differences were found in lesion and ambulation level. Muscle strength and motor performance were significantly lower in the MMC group than in the LMMC group (p < 0.05). PEDI scores were comparable in both groups. Most problems were noted in mobility skills and caregiver assistance in self-care, especially regarding bladder and bowel management. CONCLUSIONS: Gross motor and functional problems were seen in both groups. The MMC group showed more muscle weakness and motor problems. However, in both groups caregiver assistance was needed for a prolonged period, especially regarding bladder and bowel management. These findings need special attention, particularly in children who attend regular schools.     

Knee muscle strength in multiple sclerosis: relationship with gait characteristics

[Purpose] To investigate the relationship between isokinetic knee muscle strength and kinematic, kinetic and spatiotemporal gait parameters of patients with multiple sclerosis (MS). [Subjects and Methods] Twenty-nine MS patients (mean age 31.5±6.5) were investigated in this study. The isokinetic knee muscle strength and gait parameters of MS patients with moderate and severe disability, as determined by the expanded disability status scale (EDSS): EDSS=1–4.5 (n=22, moderate disability) and EDSS>4.5 (n=7, severe disability) were measured. [Results] Isokinetic knee muscle strength, kinematic, kinetic and spatiotemporal gait parameters differed between moderate (EDSS=1–4.5, n=22) and severe disability (EDSS>4.5, n=7). The correlation between each of gait speed, stride length, total range of knee joint movement and the four strength parameters (minimum and maximum quadriceps and hamstring muscle strengths) were significant for the MS group as a whole. Within subgroups, the correlation between minimum hamstring strength and total range of knee movement was significant only in group EDSS>4.5; minimum hamstring correlated with peak knee extensor moment in group EDSS=1–4.5, but at a reduced level of significance. [Conclusion] The present study revealed significant correlations between gait characteristics and isokinetic strength parameters of the quadriceps and hamstring muscles. Our study suggests that rehabilitation protocols for MS patients should include a critical strength training programme particularly for the hamstring and quadriceps muscles.Key words: Multiple sclerosis, Gait analysis, Muscle strength     

Continuous passive motion improves shoulder joint integrity following stroke

OBJECTIVE: In a pilot study of patients with a first stroke and hemiparesis, we sought to determine whether treatment of the upper limb with continuous passive motion (CPM) that was device delivered would alter impairment, disability or the associated adverse symptoms of shoulder joint instability, pain and tone. DESIGN: Patients were randomly assigned to receive daily CPM treatments or participate in self-range of motion groups under the supervision of an occupational therapist. All patients received standard daily poststroke therapy for 3.5 h per day. A blinded evaluator at admission and discharge assessed patients using standardized scales of impairment, disability and adverse symptoms. SETTING: Specialized stroke unit of an acute rehabilitation hospital. SUBJECTS: Two hundred and eighty consecutive patients were screened and 35 of these with a first unilateral stroke, 13 +/- 6 days following the acute event, provided informed consent and were randomly assigned to CPM treatment or supervised group self-range exercise. MAIN MEASURES: Thirty-two completed the study and were evaluated using standardized measures for motor impairment (Fugl-Meyer, Motor Status Scale and Medical Research Council Motor Power), adverse symptoms (gleno-humeral stability, pain and tone), and disability (Functional Independence Measure). RESULTS: CPM-treated patients demonstrated positive trends towards improved shoulder joint stability (p = 0.06, confidence interval -0.03, 2.3) when compared with patients performing therapist-supervised self-range of motion. There were no significant differences in motor impairment, disability, pain or tone. CONCLUSIONS: Device-delivered continuous passive range of motion may offer an enhanced benefit for some adverse symptom reduction in the hemiplegic arm after stroke over traditional self-range of motion exercise.     

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.     

Associating the onset of motor impairments with disability progression in nursing home residents

OBJECTIVES: To evaluate the association between the onset of movement impairments and disability progression in nursing home residents. DESIGN: Retrospective cohort analysis of data from the State of New York Minimal Data Set, version 2.0, between November 1998 and October 1999. Participants were nursing home residents (n = 84,346) in the State of New York. Items defined as "functional limitation in range of motion" and "lack of voluntary movement" served as measures of movement impairments. Scores on the activities of daily living summary scale served as a measure of disability. Age, sex, measures of cognition, depression, and measures of medical stability served as adjustment variables. RESULTS: After adjusting for age, sex, cognition, depression, and measures of medical stability, the onset of either singular or combined movement impairments in voluntary movement or range of motion was associated with a concurrent step-wise loss in activities of daily living (P < 0.001). The progression in activities of daily living loss occurred regardless of location or limb type. CONCLUSION: This study directly links the onset of movement impairments with disability progression. These findings have important implications for physiatrists and other practitioners of geriatric rehabilitation.     

Feedforward muscle activity: an investigation into the onset and activity of Internal oblique during two functional reaching tasks

Feedforward muscle activity occurs in the normal population to stabilize the trunk prior to limb movement and protect spinal structures. The primary purpose of the study was to identify whether internal oblique (OI) has a feedforward mechanism operating during a functional unilateral reaching task. A secondary aim was to ascertain whether differences in OI onset and activity occurred during two functional task conditions. Subjects participated in a functional reaching and moving task, featuring two conditions, qualitatively different due to their challenge to equilibrium. OI activity was monitored using surface EMG and onsets compared with deltoid onset to identify feedforward activity. Feedforward activity of OI was identified and found to be significant (P<0.001). No difference existed between onset times (P=0.529) or activity amplitudes (average, P=0.9; peak, P=0.27; time to peak, P=0.20) when comparing reaching conditions. Sufficient muscle activity must be achieved to dynamically stabilize the spine in preparation for upper limb movement. Further research is required to determine changes to OI feedforward function in the presence of LBP during a functional activity.     

A critical analysis of randomised clinical trials on neck pain and treatment efficacy. A review of the literature.

The efficacy of physiotherapy or chiropractic treatment for patients with neck pain was analysed by reviewing 27 randomised clinical trials published 196-1995. Three different methods were employed: systematic analyses of; methodological quality; comparison of effect size; analysis of inclusion criteria, intervention and outcome according to The Disablement Process model. The quality of most of the studies was low; only one-third scored 50 or more of a possible 100 points. Positive outcomes were noted for 18 of the investigations, and the methodological quality was high in studies using electromagnetic therapy, manipulation, or active physiotherapy. High methodological quality was also noted in studies with traction and acupuncture, however, the interventions had either no effect or a negative effect on outcome. Pooling data and calculation of effect size showed that treatments used in the studies were effective for pain, range of motion, and activities of daily living. Inclusion criteria, intervention, and outcome were based on impairment in most of the analysed investigations. Broader outcome assessments probably would have revealed relationships between treatment effect and impairment, functional limitation and disability.     

Impairment,disability, and the ICIDH model III: Underlying disease,impairment, and disability

Secondary analysis of data carried out in a national survey of the disabled is used to explore the relationship between underlying condition, impairment and disability, where the conditions are considered in three groups depending on whether they affect control, mechanical performance or energy. Comparison of impairment and disability profiles highlights the role of functional limitation in mediating between disease and disability. Disability profiles were found to be less associated with the underlying condition than were impairment profiles, but this can to some extent be explained by the nature of the functional limitation.     

Cervical musculoskeletal impairment in frequent intermittent headache. Part 2: subjects with concurrent headache types

A pattern of musculoskeletal impairment inclusive of upper cervical joint dysfunction, combined with restricted cervical motion and impairment in muscle function, has been shown to differentiate cervicogenic headache from migraine and tension-type headache when reported as single headaches. It was questioned whether this pattern of cervical musculoskeletal impairment could discriminate a cervicogenic headache as one type of headache in more complex situations when persons report two or more headaches. Subjects with two or more concurrent frequent intermittent headache types (n = 108) and 57 non-headache control subjects were assessed using a set of physical measures for the cervical musculoskeletal system. Discriminant and cluster analyses revealed that 36 subjects had the pattern of musculoskeletal impairment consistent with cervicogenic headache. Isolated features of physical impairment, e.g. range of movement (cervical extension), were not helpful in differentiating cervicogenic headache. There were no differences in measures of cervical musculoskeletal impairment undertaken in this study between control subjects and those classified with non-cervicogenic headaches.     

Activities and participation in young adults with osteogenesis imperfecta

The objective of this cross-sectional study was to compare the activities and participation in the domains of mobility, self-care, domestic life and social functioning in young adults according to osteogenesis imperfecta (OI) type. Fifty-four former OI patients were invited to participate and were sent a structured questionnaire. Twenty-four patients (mean age: 25.0 years, SD: 2.6 years) with OI types I (n=7), III (n=7), IV (n =8) and V (n=2) completed the questionnaire. Participants with OI type I reported full independence, and only few respondents with OI types IV and V reported some limitations in mobility and domestic life activities. Young adults with OI type III had significantly lower activity scores in aspects of mobility and domestic life and lower levels of participation in employment, sporting activities and transportation. Participation in leisure and social interactions were not different across OI types. Young adults with more severe types of osteogenesis imperfecta have greater activity limitations and participation restrictions. Our findings indicate the importance of promoting and facilitating involvement in meaningful activities and roles in young adults with moderate to severe forms of OI.     

Effect of pilates mat exercises and conventional exercise programmes on transversus abdominis and obliquus internus abdominis activity: pilot randomised trial

Pilates training is said to increase Transversus abdominis (TrA) and Obliquus internus (OI) activation during exercise and functional activities. 34 Pain-free health club members with no Pilates experience, mean (SD) age 30(7) years, were randomised to Pilates mat exercises or strength training. Participants exercised unsupervised twice-weekly for eight weeks. TrA and OI thickness (a proxy for muscle activity at the low-medium efforts of our exercises) were measured with ultrasound pre- and post-training during Pilates exercises 'Imprint' (an abdominal drawing-in manoeuvre) and 'Hundreds A' (lying supine, arms slightly raised, hips and knees flexed to 90°) and 'Hundreds B' (as A, with neck flexion) and functional postures sitting and standing. Pilates participants had increased TrA thickness in Hundreds A [all values mean (SD) mm]: 3.7(1.3) pre-intervention, 4.7(1.1) post-intervention (P = 0.007); and decreased OI muscle thickness during Imprint: 11.7(2.8) pre-intervention, 10.8(3.5) post-intervention (P = 0.008). Strength training participants had greater OI thickness during Imprint (P = 0.014), Hundreds A (P = 0.018) and Hundreds B (P = 0.004) than Pilates participants post-intervention. There were no changes in muscle thickness at rest or during functional postures. Pilates training appears to increase TrA activity but only when performing Pilates exercises. Further research is required into Pilates in clinical populations and how to increase deep abdominal activation during functional activities.