Kemel A Ghotme1,2, Fernando Alvarado-Gomez3,4, Christina Lampe5, Klane K White6, Martha Solano-Villareal7, Roberto Giugliani8, Paul R Harmatz9. 1. Translational Neuroscience Research Lab, Faculty of Medicine, Universidad de La Sabana, Chia, Colombia. kemelgg@unisabana.edu.co. 2. Neurosurgery Unit, Fundación Santafé de Bogotá, Bogota, Colombia. kemelgg@unisabana.edu.co. 3. Department of Orthopedics, Spine Surgery Section, Fundación Santafé de Bogotá, Bogota, Colombia. 4. Spine Surgery Section, Instituto de Ortopedia Infantil Roosevelt, Bogota, Colombia. 5. Center for Rare Diseases, Clinic for Children and Adolescents, Helios Dr. Horst Schmidt Kliniken, Wiesbaden, Germany. 6. Department of Orthopedics and Sport Medicine, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA, USA. 7. Fundacion Cardioinfantil, Bogota, Colombia. 8. Med Genet Serv HCPA, Dep Genet UFRGS & INAGEMP, Porto Alegre, Brazil. 9. UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Abstract
PURPOSE: This study aims to raise awareness of the need for research and appropriate guidelines for managing spinal cord issues in adult patients with mucopolysaccharidosis (MPS) and transition of these patients from pediatric to adult care. METHODS: Pediatric/adult neurosurgeons, orthopedic spine surgeons, and treating physicians with expertise in metabolic disorders and spinal cord issues were invited to complete a survey to assess their experience with spinal cord problems in MPS and their opinion on transitioning routes from pediatric to adult care. RESULTS: Twenty specialists completed the survey; 16 had treated spinal cord issues in patients with MPS. Foramen magnum and cervical stenosis (87%), atlanto-axial instability (67%), and lumbar spine instability (33%) were the main spinal cord issues encountered; 28% had treated adult patients for one or more spinal cord issues. In 40% of cases, this concerned an intervention or procedures performed during childhood. The main specialist responsible for the care of adult patients with MPS differed considerably between institutions and included both pediatric and adult specialists (30% pediatric neurosurgeons, 10% pediatric spine orthopedic surgeons, 30% adult spine neurosurgeons, 20% general adult surgeons). The preferred option (> 50%) for the transition of care was an interdisciplinary team of pediatric and adult specialists. CONCLUSIONS: Further work needs to be done to address problems of managing spinal cord issues in adult patients with MPS. Currently, the responsibility for the care of patients with MPS with spinal cord issues is inconsistent. The best strategy for transitioning these patients from pediatric to adult care is likely an interdisciplinary approach.
PURPOSE: This study aims to raise awareness of the need for research and appropriate guidelines for managing spinal cord issues in adult patients with mucopolysaccharidosis (MPS) and transition of these patients from pediatric to adult care. METHODS: Pediatric/adult neurosurgeons, orthopedic spine surgeons, and treating physicians with expertise in metabolic disorders and spinal cord issues were invited to complete a survey to assess their experience with spinal cord problems in MPS and their opinion on transitioning routes from pediatric to adult care. RESULTS: Twenty specialists completed the survey; 16 had treated spinal cord issues in patients with MPS. Foramen magnum and cervical stenosis (87%), atlanto-axial instability (67%), and lumbar spine instability (33%) were the main spinal cord issues encountered; 28% had treated adult patients for one or more spinal cord issues. In 40% of cases, this concerned an intervention or procedures performed during childhood. The main specialist responsible for the care of adult patients with MPS differed considerably between institutions and included both pediatric and adult specialists (30% pediatric neurosurgeons, 10% pediatric spine orthopedic surgeons, 30% adult spine neurosurgeons, 20% general adult surgeons). The preferred option (> 50%) for the transition of care was an interdisciplinary team of pediatric and adult specialists. CONCLUSIONS: Further work needs to be done to address problems of managing spinal cord issues in adult patients with MPS. Currently, the responsibility for the care of patients with MPS with spinal cord issues is inconsistent. The best strategy for transitioning these patients from pediatric to adult care is likely an interdisciplinary approach.
Entities:
Keywords:
Mucopolysaccharidoses; Spinal cord; Survey; Transition to adult care
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