Physical performance testing in mucopolysaccharidosis I: a pilot study.

OBJECTIVE: To develop and field-test a physical performance measure (MPS-PPM) for individuals with Mucopolysaccharidosis I (MPS I), a rare genetic disorder. METHODS: Motor performance and endurance items were developed based on literature review, clinician feedback, feasibility, and equipment and training needs. A standardized testing protocol and scoring rules were created. The MPS-PPM includes: Arm Function (7 items), Leg Function (5 items), and Endurance (2 items). Pilot data were collected for 10 subjects (ages 5-29 years). We calculated Spearman's rho correlations between age, severity and summary z-scores on the MPS-PPM. RESULTS: Subjects had variable presentations, as correlations among the three sub-test scores were not significant. Increasing age was related to greater severity in physical performance (r = 0.72, p<0.05) and lower scores on the Leg Function (r = -0.67, p<0.05) and Endurance (r = -0.65, p<0.05) sub-tests. The MPS-PPM was sensitive to detecting physical performance deficits, as six subjects could not complete the full battery of Arm Function items and eight subjects were unable to complete all Leg Function items. Subjects walked more slowly and expended more energy than typically developing peers. CONCLUSIONS: Individuals with MPS I have difficulty with arm and leg function and reduced endurance. The MPS-PPM is a clinically feasible measure that detects limitations in physical performance and may have potential to quantify changes in function following intervention.

Development of a disease-specific disability instrument for Pompe disease.

PURPOSE: The purpose of this study was to modify the Paediatric Evaluation of Disability Inventory (PEDI) to create a Pompe disease-specific disability instrument for use in clinical trials and natural history studies. METHODS: PEDI item content was revised to include self-care and mobility items appropriate for children and youth with Pompe disease. Data were collected on 30 individuals with Pompe disease (mean age 7.7+/-5.6 years; range 0.4-22.1 years) by parent proxy through telephone interviews. New items were merged with original PEDI items using Rasch rating scale methods. RESULTS: The Pompe-PEDI extended the content range and scoring precision of the original PEDI. Construct validity was demonstrated and test-re-test reliability was excellent. CONCLUSIONS: The Pompe-PEDI is a reliable and valid instrument to assess and monitor the functional changes of children and youth with Pompe disease.

Pompe disease and physical disability.

This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease-specific functional instrument. Data were collected by telephone interview with parents using a modified version of the Pediatric Evaluation of Disability Inventory. The sample included mostly males of Caucasian origin, recruited from several countries. Disability profiles in mobility and self-care skills were heterogeneous because functional status was not related to chronological age. Most children had severe functional deficits: nearly two-thirds of the sample was non-ambulatory and could not perform age-expected self-care skills. Three-quarters of the children used a ventilator. Two children were able to participate in age-appropriate sports and peer activities. Although the mean chronological age of the sample was 7 years 7 months, the mean age-performance for self-care skills was under 2 years 6 months and under 1 year 6 months for mobility. Implications of physical disability findings for individuals with Pompe disease are discussed.

Effects of lower extremity passive stretching: pilot study of children and youth with severe limitations in self-mobility.

PURPOSE: The purpose of this pilot study was to investigate changes in passive range of motion (PROM) of children with severe limitations in self-mobility during periods of physical therapy intervention and naturally occurring periods of no intervention (school vacations). METHODS: A multiple-case time-series design was used to monitor hip and knee PROM over a seven-month period for seven students aged four to 18 years receiving physical therapy in a school setting. PROM measurements were graphed and the Wilcoxon signed rank test was used to evaluate the PROM changes during intervention and nonintervention phases for each individual student and for the students as a group. RESULTS: When PROM changes were pooled for all subjects and all joint motions, the Wilcoxon signed rank test revealed a significant decrease in PROM only after the first nonintervention phase. Significant decreases in PROM were observed in only two of the students after the first nonintervention phase. CONCLUSION: Children and youth with severe limitations in self-mobility may lose PROM during nonintervention periods lasting more than five weeks.

Physical therapy intervention for children with cerebral palsy who receive botulinum toxin a injections.

PURPOSE: This study describes changes in physical therapy (PT) service delivery, intervention strategies, and anticipated goals after botulinum toxin A (BtA) injections for children with cerebral palsy and lower extremity spasticity. METHODS: Subjects were six physical therapists who were the primary therapists for children who received BtA injections. A questionnaire was developed for this study. Data were collected by structured telephone interview during a six-month period that included a two-month preinjection and four-month postinjection phase for each child. A descriptive analysis was done to determine changes in PT over time. RESULTS: Three therapists reported increased levels of PT in the postinjection phase. Trends in interventions indicated use of strategies that were impairment and function based to achieve goals. Most goals emphasized functional change. CONCLUSION: This study identifies PT interventions and trends in goal achievement for children with cerebral palsy after BtA injections.

Classifying mobility recovery in children and youth with brain injury during hospital-based rehabilitation.

PRIMARY OBJECTIVE: This article describes mobility recovery for children and youth with traumatic and non-traumatic brain injury during hospital-based rehabilitation. RESEARCH DESIGN: A retrospective, descriptive pre-test/post-test design was used. METHODS AND PROCEDURES: One hundred and fifty-seven individuals with brain injury who were admitted for rehabilitation over a 5-year period were enrolled in this study. The Paediatric Evaluation of Disability Inventory (PEDI) was used to document functional mobility at admission and discharge from the rehabilitation programme. The PEDI mobility classification system consisting of seven discrete levels of mobility was developed to provide clinically relevant and succinct outcome information. MAIN OUTCOMES AND RESULTS: The majority of children with brain injury (69%) improved one or more mobility classification levels. Children in the traumatic brain injury group made greater changes (p = 0.001) in mobility recovery than children in the non-traumatic group. CONCLUSIONS: Information about recovery using a well-defined functional classification system may assist with programme evaluation and facilitate optimal service delivery.

Impairment, disability, and satisfaction outcomes after lower-extremity botulinum toxin a injections for children with cerebral palsy.

PURPOSE: The purpose of this study was to document impairment, disability, and parent satisfaction outcomes for children with cerebral palsy who received botulinum toxin A (BtA) injections. METHODS: Seven children, three to 11 years old, participated in this multiple single-subject AB design study. Impairment, disability, and satisfaction outcomes were documented using passive range of motion measurements, Modified Ashworth Scale scores, and the Canadian Occupational Performance Measure. These outcomes were measured every two weeks during the two-month baseline phase and the four-month intervention phase. Outcomes for each child were graphed and visually analyzed for changes in level, trend, and slope. RESULTS: After BtA injections, all children demonstrated an increase in passive range of motion and a decrease in spasticity in at least some of the injected muscles. Six of the seven children demonstrated improvements in disability and parent satisfaction outcomes. CONCLUSIONS: Improvement in a variety of outcomes may be observed after BtA injections in children with cerebral palsy and lower-extremity spasticity who are ambulatory.