Diagnosis,follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta

Objectives

Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep-disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB.

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.     

A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta

Purposes.?To describe demographical variables, and to study functional ability to perform activities of daily life in adults with osteogenesis imperfecta (OI).

Methods.?Population-based study. Ninety-seven patients aged 25 years and older, 41 men and 56 women, were included. For the demographical variables, comparison was made to a matched control-group (475 persons) from the Norwegian general population. Structured interviews concerning social conditions, employment and educational issues and clinical examination were performed. The Sunnaas Activities of Daily Living (ADL) Index was used to assess the ability to perform ADL.

Results.?The prevalence of clinical manifestations according to Sillence was in accordance with other studies. Demographical variables showed that most adults with OI are married and have children. They had a higher educational level than the control group, but the employment rate was significantly lower. However, the rate of employed men was similar in both groups. Adult persons with OI achieved a high score when tested for ADL.

Conclusions.?Adults with OI are well educated compared with the general population, and most of them are employed. High scores when tested for ADL indicate that most of them are able to live their lives independently, even though there are some differences according to the severity of the disorder.     

Perspectives on transitions: rethinking services for children and youth with developmental disabilities

Transition to adulthood for youth with developmental disabilities has become an important concern internationally of service providers working with these young people. Reflecting on the useful review by Binks and colleagues in this issue of the Archives, we argue as developmentalists that this is an ideal time to step back from our traditional preoccupation with "treatment" of childhood disability and to reconsider broadly what our goals for intervention ought to be. We invoke the concepts of the International Classification of Functioning, Health and Disability framework and draw on research that taps the voices of young people with disabilities-voices we believe have a lot to tell us about what has and has not worked for them. We suggest that there are unparalleled opportunities to enhance transition to adulthood for young people with developmental disabilities, in part by a feed-forward of the best of childhood services, and to work to prevent many of the difficulties faced by the current generation making this challenging transition.     

Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review

The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. This current case report describes the important clinical aspects of osteogenesis imperfecta that must be considered during the planning and performance of a total knee replacement. A 62-year-old female patient with a history of osteogenesis imperfecta suffered from severe osteoarthritis of the knee with valgus deformity. Two years after posterior stabilized total knee arthroplasty, her Hospital for Special Surgery knee score had improved from preoperative 53 points to 85 points at the final follow-up. The current case report describes the crucial technical aspects of a successful total knee replacement in this uncommon scenario. Underlying deformities and concomitant pathologies constitute specific surgical challenges. Special care should be taken to protect the patient from potential complications.     

Family experience with osteogenesis imperfecta type 1: the most distressing situations

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by decreased bone mass and increased bone fragility. Despite increasing research on the biomedical aspects of the disease, only a few studies focus on the psychosocial implications of living with OI. This study aimed to explore the situations that are perceived by OI type-1 children, their parents and siblings, as being the most distressing and stressful in their experience with the disease.

Methods: Seven families of children diagnosed with OI type 1 for longer than four years participated. An in-depth semistructured interview with open-ended questions was used to separately collect each participant’s (mother, father, patient and sibling) subjective report of their experience. Interviews were audiotaped and a qualitative discourse analysis was performed.

Results: Pain and fractures, hospitalization, home recovery, back to school and time of diagnosis emerged as the most challenging situations. Time of diagnosis was only mentioned by parents. Some commonalities but also relevant differences in the subjective experience of the same situations, depending on the family role, were found.

Conclusions: Our results reinforce the assumption that OI is a family matter and point to the importance of providing comprehensive and family-centered health and educational services tailored to each family member and to the different situations faced by these families.

• Implications for rehabilitation

• Osteogenesis imperfecta is a chronic rare disease that impacts severely the patient’s life and the life of all family members.

• The most distressing situations are related to fractures and pain, hospitalization, recovery from fractures while being at home and preparing for school reentry.

• All family members participate in the rehabilitation process, each one accomplishing different tasks.

• Rehabilitation should include educational and psychological intervention to enhance family strengths and support all family members.

• Tailored and effective communication from health providers may play a critical role in the rehabilitation process.

     

Perceived health and physical functioning in postpoliomyelitis syndrome: a 6-year prospective follow-up study

OBJECTIVES: To study prospectively the health status, and especially the physical functioning, of polio survivors with and without postpoliomyelitis syndrome (PPS), and to identify prognostic determinants of change in physical functioning. DESIGN: Prospective cohort study; measurements at baseline and after 1, 2, and 6 years. SETTING: University hospital in the Netherlands. PARTICIPANTS: Seventy-six subjects with PPS and 27 without PPS. INTERVENTIONS: Not applicable.Main Outcome Measure: The Nottingham Health Profile (NHP) physical mobility category. RESULTS: Subjects with PPS had significantly poorer health status than subjects without PPS. No significant differences in mean NHP physical mobility scores between baseline and 6 years were found; both groups had improved after 1 year, after which there was a slow decline over the next 5 years. During the first 2 years, strength measurements showed little decline that was not related to changes in NHP physical mobility score. A physical performance test revealed no mean change in the first 2 years, but the subgroup with a decline above the 75th percentile eventually deteriorated 10.5+/-16.3 points on the NHP physical mobility category (P=.01) at 6 years from baseline. This subgroup had more extensive paresis than the other subjects, although it was not significant (P=.07). The extent of paresis at baseline was the only prognostic determinant for an increase in NHP physical mobility problems after 6 years. CONCLUSIONS: Subjects with and without PPS did not differ with regard to changes in health status in a 6-year period. The fact that the extent of paresis was a prognostic factor for a decline in physical functioning is in accord with a (slow) decline in muscle mass, as a late effect of polio, that may lead to a decline in physical functioning as the reduced muscle capacity becomes less able to meet the demands of daily physical activities.     

Presentation 3: Assessing disability in older adults: the effects of asking questions with and without health attribution

Objective: To determine the effects of using questions with and without health attribution on a self-reported disability instrument developed for use with older adults. Design: Cross-sectional. Setting: Community-based. Participants: 75 community-dwelling older adults from central and eastern Massachusetts. Interventions: Not applicable. Main Outcome Measures: We administered the disability component of the Late Life Function and Disability Instrument. To test whether altering attribution influenced scores, we administered the same 16 questions with attribution to specific health conditions. Results: A higher prevalence of disability was reported in the nonattributed compared with the health attribution (t=5.76, P<.001; 95% CI, 3.8-7.8). Item analyses indicated that participants were significantly more likely to report disability on the nonattributed version of 4 of the 16 disability items that required out-of-home travel. Conclusions: In this sample of older adults, estimates of disability were underestimated by questions that included specific attribution to health conditions. Factors other than health appear to influence self-report of disability related to participation in travel outside of the home.     

Prospective longitudinal study of gross motor function in children with cerebral palsy

OBJECTIVES: To describe the course of gross motor function over 2 years in children with cerebral palsy (CP) aged 9 to 15 years, and to investigate its relationship with impairments and age. DESIGN: Prospective cohort study. SETTING: Rehabilitation department of a university medical center in the Netherlands. PARTICIPANTS: Seventy boys and 40 girls with CP (mean age +/- standard deviation, 11.2+/-1.7y). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: The Gross Motor Function Measure (GMFM). RESULTS: GMFM item scores were stable over the 2 years for the whole group. No difference was found in the course of GMFM item scores between the Gross Motor Function Classification System (GMFCS) levels. We found significant differences in the course of GMFM item scores (corrected for GMFCS) for the different levels of limb distribution, selective motor control, muscle strength, range of motion in the hip and knee, spasticity of the hamstrings, and type of education. There were significantly larger decreases in the more severely affected children. Multivariable analysis showed that a poor selective motor control was the most important determinant of a less favorable course of gross motor function. CONCLUSIONS: Some impairment characteristics may be used to identify children who are at risk for deterioration in gross motor function, and may serve as a guide for interventions.     

Correlation among physical impairments, pain, disability, and patient satisfaction in patients with chronic neck pain

OBJECTIVE: To investigate the correlations among pain, physical impairments, disability, and patient satisfaction in patients with chronic neck pain. DESIGN: A longitudinal cohort study with 6-month follow-up. SETTING: Institutional practice. PARTICIPANTS: Subjects (N=218) with chronic neck pain. INTERVENTIONS: Subjects were treated with different physiotherapy modalities. MAIN OUTCOME MEASURES: Data were obtained for self-reported disability, verbal numeric pain scale, patient satisfaction, and 2 measures of physical impairments during the initial visit, at 6 weeks, and finally at 6 months. RESULTS: The correlation among 4 sets of measurements varied. Moderate correlation was noted between disability and patient satisfaction ( r range, .50-.65), and between disability and pain ( r range, .55-.63). A fair relationship was found between pain and patient satisfaction ( r range, .43-.48), but only weak relationships were found between physical impairments and pain ( r range, -.08 to -.25). The correlations tended to increase in the follow-up assessments. CONCLUSIONS: No strong correlations were found among disability, patient satisfaction, pain, and physical impairments although the correlations tended to increase in the follow-up assessments. The findings support the suggestion that clinicians should address as many relevant aspects of a presenting clinical entity as possible in the management of chronic neck pain.     

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling

Osteogenesis imperfecta (OI) is a genetically heterogeneous monogenic disease characterized by decreased bone mass, bone fragility, and recurrent fractures. The phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal stature. The basic mechanism is a collagen-related defect, not only in synthesis but also in folding, processing, bone mineralization, or osteoblast function. In recent years, great progress has been made in identifying new genes and molecular mechanisms underlying OI. In this context, the classification of OI has been revised several times and different types are used. The Sillence classification, based on clinical and radiological characteristics, is currently used as a grading of clinical severity. Based on the metabolic pathway, the functional classification allows identifying regulatory elements and targeting specific therapeutic approaches. Genetic classification has the advantage of identifying the inheritance pattern, an essential element for genetic counseling and prophylaxis. Although genotype-phenotype correlations may sometimes be challenging, genetic diagnosis allows a personalized management strategy, accurate family planning, and pregnancy management decisions including options for mode of delivery, or early antenatal OI treatment. Future research on molecular pathways and pathogenic variants involved could lead to the development of genotype-based therapeutic approaches. This narrative review summarizes our current understanding of genes, molecular mechanisms involved in OI, classifications, and their utility in prophylaxis.     

Response shift theory: important implications for measuring quality of life in people with disability

Measurement of health-related quality of life (HRQOL) in people with disability can be problematic. Ambiguous or paradoxical findings can occur because of differences among people or changes within people regarding internal standards, values, or conceptualization of HRQOL. These "response shifts" can affect standard psychometric indices, such as reliability and validity. Attending to appraisal processes and response shift theory can inform development of HRQOL measures for people with disability that do not confound function and health and that consider important causal indicators such as environment. By design, most HRQOL measures equate function with health, necessarily leading to a lower measured HRQOL in people with functional impairments regardless of their level of self-perceived health. In this article, we present theoretical and conceptual distinctions building on response shift theory and other current developments in HRQOL research. We then submit a set of suggested directions for future measurement development in populations with disabilities that consider these distinctions and extend their use in future measurement developments.     

A report on disability and rehabilitation medicine in Pakistan: past, present, and future directions

Rathore FA, New PW, Iftikhar A. A report on disability and rehabilitation medicine in Pakistan: past, present, and future directions.Disability is a stigma in Pakistan, and cultural norms are a hindrance to the integration of the disabled into the community. Additional barriers to addressing the needs of the disabled include the lack of reliable disability epidemiologic data, inadequate funding and poor health care infrastructure, and workforce shortages. The aim of this report is to present an overview of Physical Medicine and Rehabilitation (PM&R) in Pakistan, covering its origins, current status, and future directions. An electronic literature search (1950–2009) was conducted using the Medline, ScienceDirect, Springer Link, CINAHL, and Google Scholar databases. The key words used were “disability,” “persons with disability” (PWDs), “rehabilitation,” “Pakistan,” “developing countries,” “stroke,” “spinal cord injury,” “causes,” “attitudes,” “physiotherapy,” “occupational therapy,” and “speech therapy.” Only publications in English involving physical disability were selected. Statistical data were obtained from the Federal Bureau of Statistics. Interviews with pioneers of rehabilitation medicine in Pakistan, PWDs, and their families were conducted. The origins of PM&R in Pakistan date to the 1960s, but the formal training program began only in 1997. There are only a few rehabilitation departments, and none have all the standard components of a rehabilitation team. The number of practicing rehabilitation consultants is 38. There are an estimated 1000 physical therapists and 150 occupational therapists. There is a need to increase the number of rehabilitation facilities significantly, staff them appropriately, and make them accessible to all who need them, including rural and remote regions. Discrimination should be addressed by education and legislation.     

Kinesiophobia in chronic fatigue syndrome: assessment and associations with disability

OBJECTIVES: To investigate aspects of the validity of the total scores of the Tampa Scale for Kinesiophobia (TSK), Dutch Version, which was modified to make it an appropriate questionnaire for the assessment of kinesiophobia (fear of movement) in chronic fatigue syndrome (CFS) patients (the Dutch TSK-CFS), and, using this assessment tool, to examine the associations between kinesiophobia, exercise capacity, and activity limitations and participation restrictions in patients with CFS. DESIGN: Prospective observational studies. SETTING: An outpatient fatigue clinic. PARTICIPANTS: In the first study, 40 patients fulfilling the 1994 US Centers for Disease Control and Prevention (CDC) criteria for CFS were enrolled. The sample of the second study consisted of 51 CDC-defined patients with CSF. INTERVENTIONS: Not applicable.Main outcome measures Study 1: Subjects completed a set of questionnaires; the Utrechtse Coping List (UCL), the Dutch TSK-CFS, and the Dutch Baecke Questionnaire of Habitual Physical Activity. Study 2: All patients completed 2 questionnaires (Chronic Fatigue Syndrome Activities and Participation Questionnaire [CFS-APQ], Dutch TSK-CFS) and performed a maximal exercise stress test on a bicycle ergometer. The heart rate was monitored continuously by use of an electrocardiograph. Metabolic and ventilatory parameters were measured through spirometry. RESULTS: Study 1: The Cronbach alpha coefficient for the individual item scores on the TSK-CFS was .80. The total scores on the Dutch TSK-CFS showed a statistically significant correlation with both the avoidance/abide subscale of the UCL (Spearman rho=.35, P=.029) and the total score of the Baecke Questionnaire (rho=-.45, P=.004). Study 2: The total scores on the Dutch TSK-CFS showed a statistically significant correlation with the total scores on the CFS-APQ (rho=.39, P=.004). No statistically significant associations were observed between the exercise capacity parameters and the total scores on the Dutch TSK-CFS. CONCLUSIONS: These results provide evidence for the internal consistency and the convergent and congruent validity of the scores obtained by use of the Dutch TSK-CFS. Kinesiophobia appears to be associated with activity limitations/participation restrictions but not with exercise capacity in patients with CFS.     

Deficits in upper-limb task performance in children with hemiplegic cerebral palsy as defined by 3-dimensional kinematics

OBJECTIVE: To define upper-limb movement deficits in children with hemiplegia using 3-dimensional (3-D) kinematic analysis of functional tasks. DESIGN: Cohort study. SETTING: University gait laboratory. PARTICIPANTS: Ten children with hemiplegic cerebral palsy (mean age, 13.3y; range, 10-17y) and 10 control children (mean age, 9.8y; range, 6-12y). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: 3-D upper-limb movement analysis. RESULTS: 3-D kinematics detected clinically significant between-group differences. Children with hemiplegia were significantly slower than control children in time taken to complete tasks (P<.05) and achieved slower movement velocities (P<.05). Group differences in range of motion (ROM) occurred in all 3 tasks examined (hand to mouth, hand to head, reach). Children with hemiplegia had significantly less supination (P<.03) and shoulder flexion (P<.03) and increased compensatory trunk flexion (P<.01) compared with control data (hand-to-mouth task). The reach task highlighted restriction of elbow extension in children with hemiplegia (minimum elbow extension: hemiplegia, 24+/-18 degrees ; control, 3+/-7 degrees ). Completing tasks bilaterally did not alter performance of the tasks in children with hemiplegia. CONCLUSIONS: 3-D kinematics detected deficits in timing, ROM, and proximal compensatory strategies during upper-limb functional task performance in children with hemiplegia.