Journal of Pediatric Rehabilitation Medicine - Volume 3, issue 1

Article Type: Other

DOI: 10.3233/PRM-2010-0109

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 1-2, 2010

Authors: Auclair, Dyane | Ketteridge, David | Oates, Stephanie | Hopwood, John J. | Byers, Sharon

Article Type: Research Article

Keywords: Mucopolysaccharidosis type VI, lysosomal storage diseases, enzyme replacement therapy, intra-articular therapy, degenerative joint diseases, N-acetylgalactosamine-4-sulfatase

DOI: 10.3233/PRM-2010-0101

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 3-6, 2010

Authors: Chen, Agnes | Dickson, Patricia

Article Type: Research Article

Keywords: Spinal cord, mucopolysaccharidosis

DOI: 10.3233/PRM-2010-0107

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 7-11, 2010

Authors: Fung, Ellen B. | Johnson, Jo Ann | Madden, Jacqueline | Kim, Tiffany | Harmatz, Paul

Article Type: Research Article

Abstract: An Erratum for this article can be found here: http://iospress.metapress.com/content/e40m3u78gh17q441/?p=8c94370d4f2a48aa92df3da4183b6906&pi=12 Enzyme replacement therapy has been successful in alleviating morbidity and improving endurance in Mucopolysaccharidosis (MPS) type I, II, and VI, however little attention has been paid to the effects on bone mineralization. Brief case reports in MPS type III and IV suggest that bone mineral density (BMD) is diminished, but did not account for patient size. In this report, BMD was evaluated by quantitative computed …tomography and by dual-energy x-ray absorptiometry (DXA) in separate studies involving 10~patients with MPS type VI (7 Female; 7.0 to 21.0 y) and 4~male patients with MPS II (8.1 to 35.5 y). Vitamin D intake met the current RDA (200 IU) for most, though 25-OH vitamin D was insufficient (< 30 ng/mL) in 87.5% of patients tested. Ht Z-score was low −5.8 ± 3.6, with height deficits greatest in MPS VI. Spine and whole body BMD Z-scores by DXA were considered normal for chronological age in all MPS II, and after correction for Ht Z-score, in all but one subject with MPS VI. These results suggest that vitamin D insufficiency is quite common in MPS. BMD by DXA is within normal range for most, particularly after correction for short stature. A review of bone health assessment is provided as well as a discussion of these results. Show more

Keywords: DXA, Bone mineral density, low bone mass, vitamin D, MPS II, MPS VI

DOI: 10.3233/PRM-2010-0105

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 13-23, 2010

Authors: Polgreen, L.E. | Miller, B.S.

Article Type: Research Article

Abstract: Short stature is characteristic of patients with mucopolysaccharidosis (MPS) diseases. For children with skeletal dysplasias, such as MPS, it is important to know the natural history of growth. An understanding of the natural growth pattern in each MPS disease provides a measurement to which treatments can be compared, as well as data which can help families and providers make individualized decisions about growth promoting treatments. Multiple advancements have been made in the treatment of MPS with …both hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT). The long term benefit of these treatments on growth is unknown. This article will review the published data on growth in children with MPS, and describe preliminary data on the use of human growth hormone (hGH) in children with MPS. Show more

Keywords: Growth, growth hormone, mucopolysaccharidoses, MPS, endocrine disease

DOI: 10.3233/PRM-2010-0106

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 25-38, 2010

Authors: Beck, Michael | Muenzer, Joseph | Scarpa, Maurizio

Article Type: Research Article

Abstract: The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders characterized by a wide variation in symptoms and progression rates. Each of the MPS types is caused by a deficiency in one of the enzymes involved in the catabolic pathway of glycosaminoglycans. MPS are usually suspected on the basis of the concomitant presence of several typical features of the disease, such as short stature, coarse facial features, loss of hearing, bone deformities, joint stiffness, organomegaly, respiratory …and cardiovascular complications, and, in some cases, developmental delay. Very reduced or absent enzyme activity is required to confirm an MPS diagnosis. In the past, treatment of MPS was limited to the management of individual symptoms of the diseases. Currently, specific therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy have improved the outlook for many MPS patients. To monitor disease progression and the impact of therapy in these patients, there is need for a validated scoring system for evaluating disease severity in MPS. A scoring system should take into account all aspects of MPS, particularly quality of life and functioning of arms, hands and legs and related mobility, endurance, self care and social functioning. This paper discusses several of the available scoring systems for bone/skeletal disorders and their potential usefulness in patients with MPS. Show more

Keywords: Diagnosis, glycosaminoglycan, mucopolysaccharidoses, severity of illness index, treatment

DOI: 10.3233/PRM-2010-0100

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 39-46, 2010

Authors: White, Klane K. | Harmatz, Paul

Article Type: Research Article

Abstract: With advances in the treatment of the mucopolysaccharidosis (MPS) disorders, musculoskeletal problems are increasingly becoming a focus of care for these patients. This review discusses the current understanding of the pathophysiology of musculoskeletal disease in MPS and its orthopedic management. Deformities of the spine, hips and extremities are common and often functionally limiting. Carpal tunnel syndrome and flexor tendon triggering are common. Surgical intervention is often required to optimize long-term function.

Keywords: Mucopolysaccharidosis, orthopedics, spine, hip, knee

DOI: 10.3233/PRM-2010-0102

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 47-56, 2010

Authors: White, Klane | Kim, Tiffany | Neufeld, Jacob A.

Article Type: Research Article

Abstract: The mucopolysaccharidoses (MPS) are a common cause of carpal tunnel syndrome (CTS) in children and adolescents. As the MPS diseases are progressive in nature, it is essential that CTS in these children is readily diagnosed and treated, before damage to the median nerve becomes irreversible. Currently, no standards for diagnosing and treating CTS associated with MPS exist. Proper diagnosis of CTS generally involves the assessment of clinical signs and symptoms, in combination with nerve conduction studies. …As the clinical signs and symptoms of CTS described for adults are often absent in children with MPS, early diagnosis of CTS in these children requires recognition of subtle findings such as decreased sweating, nocturnal waking, gnawing of hands, and manual clumsiness. Sensory tests could also be useful for detecting early CTS when the integrity of the nerve is still relatively intact. Nerve conduction velocities, which are the gold standard for diagnosing CTS, can be difficult to perform in patients with MPS and should be adapted to the patients' clinical characteristics such as their abnormally small hands and young age. Ongoing monitoring for CTS is indicated for all MPS patients, including those treated with hematopoietic stem cell transplantation or enzyme replacement therapy. Show more

Keywords: Carpal tunnel syndrome, diagnosis, hand, mucopolysaccharidoses, neural conduction

DOI: 10.3233/PRM-2010-0103

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 57-62, 2010

Authors: Garcia, Paula | Sousa, Sérgio B. | Ling, Tah Pu | Conceição, Mário | Seabra, Jorge | White, Klane K. | Diogo, Luisa

Article Type: Research Article

Abstract: Mucopolysaccharidosis (MPS) VI is an inheritable lysosomal storage disorder that is often associated with severe orthopedic problems such as hip dysplasia, spinal deformities, and deformities in the skull, knees and hands. We describe the progression and management of three MPS VI cases with focus on their orthopedic problems.

Keywords: Bone, mucopolysaccharidosis VI, orthopedics, skeleton

DOI: 10.3233/PRM-2010-0108

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 63-69, 2010

Authors: Scarpa, Maurizio | Buffone, Ebba | Marca, Philipp La | Campello, Mauro | Rampazzo, Angelica

Article Type: Research Article

Abstract: An Erratum for this article can be found here: http://iospress.metapress.com/content/e16437020701m0u5/?p=df8dd6709cf44367a0c0e5d917aaeddf&pi=11 We describe the cases of two adult sisters recently diagnosed with the attenuated form of mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome). MPS VI is a rare, clinically heterogeneous lysosomal storage disorder that is characterized by a deficiency in the glycosaminoglycan-degrading enzyme arylsulfatase B. Both cases had been misdiagnosed for over 30 years despite the presence of several characteristics of the disease, …including short stature (mild), coarse facial features, skeletal dysmorphisms, carpal tunnel syndrome, heart valve disease, and spinal cord compression, which together are suggestive of a lysosomal storage disease. Awareness about the clinical features of MPS VI should be communicated amongst treating neurologists, rheumatologists and other specialists who are involved in the healthcare decisions of these patients with presenting symptoms, so they can refer them to specialized centers for proper diagnosis and treatment. Show more

Keywords: Case reports, diagnosis, mucopolysaccharidosis VI, slowly progressive, adult

DOI: 10.3233/PRM-2010-0104

Citation: Journal of Pediatric Rehabilitation Medicine, vol. 3, no. 1, pp. 71-75, 2010