The purposes of this article are to describe the pathology, medical implications, and typical impairments of individuals with various lysosomal storage diseases (LSDs), summarize results of recent clinical trials on medical interventions relevant to physical therapy practice, report new advances in functional measurement, and suggest a framework for physical therapy management and intervention.
Medical and surgical interventions are enabling individuals with LSDs to not only survive but to improve their daily functioning and quality of life. This is likely to become an increasing area of emphasis in pediatric physical therapy, as the intervention emphasis for some individuals will shift from maintenance to restorative programs.
We recommend that pediatric physical therapists become familiar with new LSD therapeutics, play a major role in evaluating impairment and functional limitation changes in individuals with LSDs, and become knowledgeable about the indications and precautions for restorative physical therapy programs.
[Show abstract][Hide abstract] ABSTRACT: Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive muscle dysfunction. The natural history of infantile-onset Pompe disease is characterized by hypertrophic cardiomyopathy and profound generalized weakness presenting in the first few months of life, with rapid progression and death usually occurring by one year of age. Late-onset Pompe disease is characterized by onset of symptoms after one year of age, less severe or absence of cardiac involvement and slower progression, with symptoms primarily related to progressive dysfunction of skeletal muscles and respiratory muscle involvement. Recent clinical trials of enzyme replacement therapy have begun to allow greater opportunity for potential improvement in motor status, function, and survival than ever before, with hopes of moving toward maximizing physical function for individuals with Pompe disease. Children are living longer with some achieving independent sitting, creeping, and walking-milestones typically never achieved in the untreated natural history of the disorder. With increased survival, clinical management based on an understanding of the pathology and pathokinesiology of motor function gains importance. This article reviews current knowledge regarding the motor system in Pompe disease and provides an overview of physical therapy management of Pompe disease, including management strategies for individuals on enzyme replacement therapy.
Genetics in Medicine 06/2006; 8(5):318-27. DOI:10.1097/01.gim.0000217789.14470.c5 · 7.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The purpose of this study was to assess the utility of measuring current physical functioning status of children with scoliosis and kyphosis by applying computerized adaptive testing (CAT) methods. Computerized adaptive testing uses a computer interface to administer the most optimal items based on previous responses, reducing the number of items needed to obtain a scoring estimate.
This was a prospective study of 77 subjects (0.6-19.8 years) who were seen by a spine surgeon during a routine clinic visit for progress spine deformity. Using a multidimensional version of the Pediatric Evaluation of Disability Inventory CAT program (PEDI-MCAT), we evaluated content range, accuracy and efficiency, known-group validity, concurrent validity with the Pediatric Outcomes Data Collection Instrument, and test-retest reliability in a subsample (n = 16) within a 2-week interval.
We found the PEDI-MCAT to have sufficient item coverage in both self-care and mobility content for this sample, although most patients tended to score at the higher ends of both scales. Both the accuracy of PEDI-MCAT scores as compared with a fixed format of the PEDI (r = 0.98 for both mobility and self-care) and test-retest reliability were very high [self-care: intraclass correlation (3,1) = 0.98, mobility: intraclass correlation (3,1) = 0.99]. The PEDI-MCAT took an average of 2.9 minutes for the parents to complete. The PEDI-MCAT detected expected differences between patient groups, and scores on the PEDI-MCAT correlated in expected directions with scores from the Pediatric Outcomes Data Collection Instrument domains.
Use of the PEDI-MCAT to assess the physical functioning status, as perceived by parents of children with complex spinal impairments, seems to be feasible and achieves accurate and efficient estimates of self-care and mobility function. Additional item development will be needed at the higher functioning end of the scale to avoid ceiling effects for older children.
This is a level II prospective study designed to establish the utility of computer adaptive testing as an evaluation method in a busy pediatric spine practice.
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