The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning |
| |
| Affiliation: | 1. The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel;2. Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel;3. Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;4. Department of Psychiatry, University of Pennsylvania, Philadelphia, PA;5. Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel;1. Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia;2. Australian Genomics Health Alliance, Melbourne, VIC, Australia;3. Murdoch Children’s Research Institute, Melbourne, VIC, Australia;4. Department of Nephrology, Monash Medical Centre, Melbourne, Australia;5. Monash University, Melbourne, Australia;6. The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia;7. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia;8. Department of Pediatrics, University of Melbourne, Melbourne, Australia;9. Department of Pediatric Nephrology, Royal Children’s Hospital, Melbourne, Australia;10. Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia;11. Centre for Kidney Research, Children’s Hospital at Westmead, Sydney, Australia;12. Sydney Children’s Hospitals Network, Sydney, Australia;13. Faculty of Medicine, The University of Sydney, Sydney, Australia;14. Department of Medical Genetics, Royal Prince Alfred Hospital, Sydney, Australia;15. Garvan Institute of Medical Research, Sydney, Australia;16. Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Australia;17. Department of Renal Medicine, Townsville University Hospital, Townsville, Australia;18. College of Medicine & Dentistry, James Cook University, Townsville, Australia;1. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA;2. Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA;3. Pathology, Harvard Medical School, Boston, MA, USA;4. Department of Pathology and Laboratory Medicine, Children''s Mercy Hospital, Kansas City, MO, USA;5. Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO, USA;6. Center for Pediatric Genomic Medicine, Children''s Mercy Hospital, Kansas City, MO, USA;7. Invitae, San Francisco, CA, USA;8. Department of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA;9. ARUP Laboratories, Salt Lake City, UT, USA;10. Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA;11. GeneDx, LLC, Gaithersburg, MD, USA;12. Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA;13. Ambry Genetics, Aliso Viejo, CA, USA;14. Division of Genomic Diagnostics, Children''s Hospital of Philadelphia, Philadelphia, PA, USA;15. Human Genetics, University of Chicago, Chicago, IL, USA;16. Variantyx, Framingham, MA, USA;17. Quest Diagnostics, Marlborough, MA, USA;18. Women''s Health and Genetics, Labcorp, Research Triangle Park, NC, USA;19. Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA;20. HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL, USA;21. Molecular Diagnostics, New York Genome Center, New York, NY, USA;22. Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;23. Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada;24. Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA, USA;25. Pathology, Brigham and Women''s Hospital, Boston, MA, USA;26. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada;27. Fulgent Genetics, Temple City, CA, USA;28. Women''s Health and Genetics, Labcorp, Westborough, MA, USA;29. Illumina, Inc, San Diego, CA, USA;30. Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO, USA;31. Department of Pathology, Stanford Medicine, Palo Alto, CA, USA;32. Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada;1. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;2. Division of Maternal-Fetal Medicine, Brigham and Women’s Hospital, Boston, MA;3. Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX;4. Divisions of Newborn Medicine and Genetics and Genomics, Boston Children’s Hospital, Boston, MA;5. Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, MA;1. Department of Medical Sciences, University of Turin, Turin, Italy;2. Institute of Oncology Research (IOR), Bellinzona, Switzerland;3. Università della Svizzera Italiana, Lugano, Switzerland;4. Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy;5. Department of Neuroscience, University of Turin, Turin, Italy;6. William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom;7. Department of Biosciences, University of the Studies of Milan, Milan, Italy;8. Institute of Biophysics, Consiglio Nazionale delle Ricerche (CNR), Milan, Italy;9. Department of Drug Science and Technology, University of Turin, Turin, Italy;10. Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy;11. HudsonAlpha Institute for Biotechnology, Huntsville, AL;12. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom;13. Chalfont Centre for Epilepsy Bucks, Chalfont St Peter, United Kingdom;14. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom;15. Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan;16. University College London, UCL Queen Square Institute of Neurology, London, United Kingdom;17. Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy;18. Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy;19. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy;20. Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY;21. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY;22. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY;23. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY;24. Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY;25. Department of Clinical and Biological Sciences, University of Turin, Orbassano, TO, Italy;26. Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy;1. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA;2. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, Department of Neurology and Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA;3. Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA;4. Agnes Scott College, Decatur, GA;5. Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA;6. Fundación Clinica Noel, Medellin, Colombia;7. Department of Pediatrics, McGovern Medical, School and School of Dentistry, UT Health at Houston, Houston, TX;8. Department of Orthodontics, University of Iowa, Iowa City, IA;9. Department of Health Management and Policy, University of Iowa, Iowa City, IA;10. Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD;11. Department of Pediatrics, University of Iowa, Iowa City, IA;12. Department of Human Genetics, University of Pittsburgh School of Public Health, Pittsburgh, PA;1. The Dalglish Family 22q Clinic for Adults, and Department of Psychiatry, University Health Network, Toronto, ON, Canada;2. Toronto General Research Institute and Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada;3. Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada;4. Department of Psychiatry, University of Toronto, Toronto, ON, Canada;5. 22q and You Center, Clinical Genetics Center, and Section of Genetic Counseling, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA;6. Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA;7. Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy;8. Advisium, ’s Heeren Loo Zorggroep, Amersfoort, the Netherlands;9. Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands;10. Department of Pediatric Rheumatology and Immunology, Queen Silvia Children’s Hospital, SahlgrenskaUniversity Hospital, Gothenburg, Sweden;11. Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden;12. Genetics & Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada;13. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada |
| |
| Abstract: | PurposeTo date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome.MethodsIndividuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms’ severity on global assessment of functioning (GAF) and QoL.ResultsThe total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics.ConclusionQuantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals. |
| |
| Keywords: | 22q11.2DS Medical burden scale Quality of life |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
