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Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
In addition to types A and B, there are other clinical examples of Morquio syndrome, usually mild, in which defects in neither of these enzymes can be detected. These are non-keratan sulfate-excreting patients [70]. The skeletal deformities and other symptoms in these patients are similar to those seen in Morquio syndrome, but less severe. There is platyspondyly, genu valgum, flat feet, pectus carinatum, and flat, fragmented femoral heads. The pathogenesis of disease is not explained simply by the storage of material in chondrocytes. It has been proposed that accumulation in macrophages within cartilage canals and inadequate regression of canals could contribute to cartilaginous disease [71].
Section 6
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
Steroids in doses such as this do not cause lasting effects on growth to cause short stature. Osteogenesis imperfecta is associated with fractures and may lead to short stature. Morquio syndrome is a mucopolysaccharidosis, which is typified by truncal shortening and normal limb size and normal intellect, in contrast to hypochondroplasia, which has normal truncal proportions and short limbs (milder form of achondroplasia). llß-OH deficiency causes CAH and leads to a virilised female with hypertension (as a result of the elevated levels of deoxycortisone).
The Development and Evaluation of the Powered Mobility Function Scale (PMFS) for Children and Adolescents with Cerebral Palsy
Published in Developmental Neurorehabilitation, 2021
Tal Krasovsky, Chana Shammah, Anat Addes, Amichai Brezner, Sharon Barak
Participants for the development process: The PMFS authors are 2 occupational therapists with 27 and 17 years of experience working with children with severe motor and cognitive disabilities and using powered wheelchairs. Two naïve readers, an occupational therapist and a Dr. of linguistics were consulted in order to aid in the examination of the linguistic qualities of the PMFS. A convenience sample of eight girls aged 12.6–13.8 years old participated in the second phase. Of the eight, four girls were diagnosed with spastic bilateral CP, two girls had Spina bifida MMC, one girl had arthrogryposis and1 had Morquio syndrome. One of the girls aged 12.7 with CP, had her own powered wheelchair which she used exclusively for a period of one year. All the others typically used a manual wheelchair for mobility in the community and a walker for short indoor distances. they had experienced driving a powered mobility device in therapy sessions. Additionally, 20 pediatric occupational therapists (1–20 years of experience) from MESHI rehabilitation center partook in the first and second nominal groups. Meshi is an educational rehabilitation center in Israel that caters for 225 children and adolescents with complex cognitive and motor impairments that are not mainstreamed in the typical educational system. The center consists of a nursery (40 children ages 6 months–3 years), kindergarden (81 children ages 3–6 years) and school (104 children ages 6–21 years). The center has over 200 multidisciplinary staff members. Meshi provides extensive interventions in powered mobility learning as part of its habilitating philosophy that promotes the use of technology and assistive enabling devices, to enhance performance, participation and quality of life. The center owns and provides approximately 35 mobility training devices (scooters, powered wheelchairs switch and joystick operated, mini powered devices – wizzibugs and ride-on cars) for the use of all the children and adolescents who do not have their own personal device. In the third nominal group, a total of 200 workers of MESHI rehabilitation center participated – occupational and physical therapists, teachers and auxiliary staff. Finally, five experienced pediatric occupational therapists from MESHI rehabilitation center were recruited for the 4th and last part of the PMFS development process.