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Selected Heritable Disorders of Connective Tissue and Disability (2022)

Chapter:Appendix C: Selected Resources

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Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Page357
Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Page358
Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
×
Page359
Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
×
Page360
Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
×
Page361
Suggested Citation:"Appendix C: Selected Resources." National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. doi: 10.17226/26431.
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Page362

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Appendix C Selected Resources BOOKS Beighton, P., ed. 1993. McKusick’s heritable disorders of connective tissue. 5th ed. St. Louis, MO: Mosby. Daens, S., and I. Dubois-Brock. 2022. Transforming Ehlers-Danlos syndrome. 1st ed. Dilbeek, Belgium: GERSED. Halper, J., ed. 2021. Progress in heritable soft connective tissue diseases. 2nd ed. New York: Springer. https://doi.org/10.1007/978-3-030-80614-9. Jovin, D., ed. 2020. Disjointed: Navigating the diagnosis and management of hypermo- bile Ehlers-Danlos syndrome and hypermobility spectrum disorders. Hidden Stripes Publications. Liguori, G., and American College of Sports Medicine. 2021. ACSM’s guidelines for exercise testing and prescription. 11th ed. Philadephia, PA: Lippincott Williams & Wilkins. Royce, P. M., and B. Steinmann, eds. 2002. Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects. 2nd ed. Wilmington, DE: Wiley‐Liss. BOOK CHAPTERS Byers, P. H. 2019. Vascular Ehlers-Danlos syndrome. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, September 2, 1999. https://www.ncbi.nlm.nih.gov/books/NBK1494/ (accessed January 15, 2022). Callewaert, B. 2019. Congenital contractural arachnodactyly. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, January 23, 2001. https://www.ncbi.nlm.nih.gov/books/ NBK1386/ (accessed February 1, 2022). 357

358 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Dietz, H. C. 2022. FBN1-Related Marfan syndrome. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, April 18, 2001. https://www.ncbi.nlm.nih.gov/books/NBK1335/ (ac- cessed May 11, 2022). Greally, M. T. 2020. Shprintzen-Goldberg syndrome. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, January 13, 2006. https://www.ncbi.nlm.nih.gov/books/NBK1277/ (ac- cessed February 1, 2022). Levy, H. P. 2018. Hypermobile Ehlers-Danlos syndrome. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, October 22, 2004. https://www.ncbi.nlm.nih.gov/books/NBK1279/ (ac- cessed February 16, 2022). Loeys, B. L., and H. C. Dietz. 2018. Loeys-Dietz syndrome. In GeneReviews® [Internet], edited by M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, G. M. Mirzaa, and A. Amemiya. Seattle, WA: University of Washington, Seattle; 1993-2022. Original edition, February 28, 2008. https://www.ncbi.nlm.nih.gov/books/ NBK1133/ (accessed February 1, 2022). RESEARCH AND REVIEW ARTICLES Bier, J. D., W. G. M. Scholten-Peeters, J. B. Staal, J. Pool, M. W. van Tulder, E. Beekman, J. Knoop, G. Meerhoff, and A. P. Verhagen. 2018. Clinical practice guideline for physi- cal therapy assessment and treatment in patients with nonspecific neck pain. Physical Therapy 98(3):162-171. https://doi.org/10.1093/ptj/pzx118. Blanpied, P. R., A. R. Gross, J. M. Elliott, L. L. Devaney, D. Clewley, D. M. Walton, C. Sparks, and E. K. Robertson. 2017. Neck pain: Revision 2017. Journal of Orthopaedic and Sports Physical Therapy 47(7):A1-A83. https://doi.org/10.2519/jospt.2017.0302. Byers, P. H., J. Belmont, J. Black, J. De Backer, M. Frank, X. Jeunemaitre, D. Johnson, M. Pepin, L. Robert, L. Sanders, and N. Wheeldon. 2017. Diagnosis, natural history, and manage- ment in vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics 175(1):40-47. https://onlinelibrary.wiley.com/doi/10.1002/ ajmg.c.31553. Carpal tunnel syndrome: A summary of clinical practice guideline recommendations—Using the evidence to guide physical therapist practice. 2019. Journal of Orthopaedic and Sports Physical Therapy 49(5):359-360. https://doi.org/10.2519/jospt.2019.0501. Castori, M., B. Tinkle, H. Levy, R. Grahame, F. Malfait, and A. Hakim. 2017. A framework for the classification of joint hypermobility and related conditions. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics 175(1):148-157. https://onlineli- brary.wiley.com/doi/10.1002/ajmg.c.31539. Clinical guidance to optimize work participation after injury or illness: Using the evidence to guide physical therapist practice. 2021. Journal of Orthopaedic and Sports Physical Therapy 51(8):380-381. https://www.jospt.org/doi/abs/10.2519/jospt.2021.0505.

APPENDIX C 359 Côté, P., H. Yu, H. M. Shearer, K. Randhawa, J. J. Wong, S. Mior, A. Ameis, L. J. Carroll, M. Nordin, S. Varatharajan, D. Sutton, D. Southerst, C. Jacobs, M. Stupar, A. Taylor-Vaisey, D. P. Gross, R. J. Brison, M. Paulden, C. Ammendolia, J. D. Cassidy, P. Loisel, S. Marshall, R. N. Bohay, J. Stapleton, and M. Lacerte. 2019. Non-pharmacological management of persistent headaches associated with neck pain: A clinical practice guideline from the Ontario protocol for traffic injury management (OPTIMa) collaboration. European Journal of Pain 23(6):1051-1070. https://doi.org/10.1016/j.jphys.2020.05.009. Daley, D., L. P. Payne, J. Galper, A. Cheung, L. Deal, M. Despres, J. D. Garcia, F. Kistner, N. Mackenzie, T. Perry, C. Richards, and R. Escorpizo. 2021. Clinical guidance to optimize work participation after injury or illness: The role of physical therapists. Journal of Orthopaedic and Sports Physical Therapy 51(8):CPG1-CPG102. https://www.jospt.org/ doi/10.2519/jospt.2021.0303. Enseki, K., M. Harris-Hayes, D. M. White, M. T. Cibulka, J. Woehrle, T. L. Fagerson, and J. C. Clohisy. 2014. Nonarthritic hip joint pain. Journal of Orthopaedic and Sports Physical Therapy 44(6):A1-A32. https://doi.org/10.2519/jospt.2014.0302. Erickson, M., M. Lawrence, C. W. S. Jansen, D. Coker, P. Amadio, and C. Cleary. 2019. Hand pain and sensory deficits: Carpal tunnel syndrome. Journal of Orthopaedic and Sports Physical Therapy 49(5):CPG1-CPG85. https://doi.org/10.2519/jospt.2019.0301. Exercise for knee injury prevention: A summary of clinical practice guideline recommen- dations—Using the evidence to guide physical therapist practice. 2018. Journal of Orthopaedic and Sports Physical Therapy 48(9):732-733. https://doi.org/10.2519/ jospt.2018.0508. Finucane, L. M., A. Downie, C. Mercer, S. M. Greenhalgh, W. G. Boissonnault, A. L. Pool- Goudzwaard, J. M. Beneciuk, R. L. Leech, and J. Selfe. 2020. International framework for red flags for potential serious spinal pathologies. Journal of Orthopaedic and Sports Physical Therapy 50(7):350-372. https://doi.org/10.2519/jospt.2020.9971. Knee ligament sprain guidelines: Revision 2017: Using the evidence to guide physical therapist practice. 2017. Journal of Orthopaedic and Sports Physical Therapy 47(11):822-823. https://www.jospt.org/doi/full/10.2519/jospt.2017.0510. Levine, D., B. Work, S. McDonald, N. Harty, C. Mabe, A. Powell, and G. Sanford. 2021. Occupational therapy interventions for clients with Ehlers-Danlos syndrome (EDS) in the presence of postural orthostatic tachycardia syndrome (POTS). Occupational Therapy in Health Care 1-18. https://doi.org/10.1080/07380577.2021.1975200. Lin, I., L. Wiles, R. Waller, R. Goucke, Y. Nagree, M. Gibberd, L. Straker, C. G. Maher, and P. P. B. O’Sullivan. 2020. What does best practice care for musculoskeletal pain look like? Eleven consistent recommendations from high-quality clinical practice guide- lines: Systematic review. British Journal of Sports Medicine 54(2):79-86. https://doi. org/10.1136/bjsports-2018-099878. Logerstedt, D. S., D. Scalzitti, M. A. Risberg, L. Engebretsen, K. E. Webster, J. Feller, L. Snyder-Mackler, M. J. Axe, and C. M. McDonough. 2017. Knee stability and movement coordination impairments: Knee ligament sprain revision 2017. Journal of Orthopaedic and Sports Physical Therapy 47(11):A1-A47. https://doi.org/10.2519/jospt.2017.0303. Logerstedt, D. S., D. A. Scalzitti, K. L. Bennell, R. S. Hinman, H. Silvers-Granelli, J. Ebert, K. Hambly, J. L. Carey, L. Snyder-Mackler, M. J. Axe, and C. M. McDonough. 2018. Knee pain and mobility impairments: Meniscal and articular cartilage lesions revision 2018. Journal of Orthopaedic and Sports Physical Therapy 48(2):A1-A50. https://doi. org/10.2519/jospt.2018.0301. MacCarrick, G., J. H. Black, 3rd, S. Bowdin, I. El-Hamamsy, P. A. Frischmeyer-Guerrerio, A. L. Guerrerio, P. D. Sponseller, B. Loeys, and H. C. Dietz, 3rd. 2014. Loeys-Dietz syndrome: A primer for diagnosis and management. Genetics in Medicine 16(8):576-587. https:// doi.org/10.1038/gim.2014.11.

360 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Malfait, F., C. Francomano, P. Byers, J. Belmont, B. Berglund, J. Black, L. Bloom, J. M. Bowen, A. F. Brady, N. P. Burrows, M. Castori, H. Cohen, M. Colombi, S. Demirdas, J. De Backer, A. De Paepe, S. Fournel-Gigleux, M. Frank, N. Ghali, C. Giunta, R. Grahame, A. Hakim, X. Jeunemaitre, D. Johnson, B. Juul-Kristensen, I. Kapferer-Seebacher, H. Kazkaz, T. Kosho, M. E. Lavallee, H. Levy, R. Mendoza-Londono, M. Pepin, F. M. Pope, E. Reinstein, L. Robert, M. Rohrbach, L. Sanders, G. J. Sobey, T. Van Damme, A. Vandersteen, C. van Mourik, N. Voermans, N. Wheeldon, J. Zschocke, and B. Tinkle. 2017. The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175(1):8-26. https:// doi.org/10.1002/ajmg.c.31552. Martin, R. L., T. E. Davenport, J. J. Fraser, J. Sawdon-Bea, C. R. Carcia, L. A. Carroll, B. R. Kivlan, and D. Carreira. 2021. Ankle stability and movement coordination impairments: Lateral ankle ligament sprains revision 2021. Journal of Orthopaedic and Sports Physical Therapy 51(4):CPG1-CPG80. https://doi.org/10.2519/jospt.2021.0302. Mortier, G. R., D. H. Cohn, V. Cormier-Daire, C. Hall, D. Krakow, S. Mundlos, G. Nishimura, S. Robertson, L. Sangiorgi, R. Savarirayan, D. Sillence, A. Superti-Furga, S. Unger, and M. L. Warman. 2019. Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics Part A 179(12):2393-2419. https://onlinelibrary. wiley.com/doi/10.1002/ajmg.a.61366. Oliveira, C. B., C. G. Maher, R. Z. Pinto, A. C. Traeger, C. C. Lin, J. F. Chenot, M. van Tulder, and B. W. Koes. 2018. Clinical practice guidelines for the management of non-specific low back pain in primary care: An updated overview. European Spine Journal 27(11):2791- 2803. https://doi.org/10.1007/s00586-018-5673-2. Pyeritz, R. E. 2019. Marfan syndrome: Improved clinical history results in expanded natural his- tory. Genetics in Medicine 21(8):1683-1690. https://doi.org/10.1038/s41436-018-0399-4. Physical therapy after an ankle sprain: Using the evidence to guide physical therapist practice. 2021. Journal of Orthopaedic and Sports Physical Therapy 51(4):159-160. https://doi. org/10.2519/jospt.2021.0503. Practice bulletin no. 176: Pelvic organ prolapse. 2017. Obstetrics and Gynecology 129(4):e56- e72. https://doi.org/10.1097/aog.0000000000002016. Richards, S., N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W. W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, and H. L. Rehm, on behalf of the AGMC Laboratory Quality Assurance Committee. 2015. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 17(5):405-423. https://doi.org/10.1038/gim.2015.30. Savarirayan, R., V. Bompadre, M. B. Bober, T.-J. Cho, M. J. Goldberg, J. Hoover-Fong, M. Irving, S. E. Kamps, W. G. Mackenzie, C. Raggio, S. S. Spencer, and K. K. White. 2019. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in Medicine 21(9):2070-2080. https://doi.org/10.1038/ s41436-019-0446-9. Valent, P., C. Akin, and D. D. Metcalfe. 2017. Mastocytosis: 2016 updated WHO classifica- tion and novel emerging treatment concepts. Blood 129(11):1420-1427. https://doi. org/10.1182/blood-2016-09-731893.

APPENDIX C 361 Vernino, S., K. M. Bourne, L. E. Stiles, B. P. Grubb, A. Fedorowski, J. M. Stewart, A. C. Arnold, L. A. Pace, J. Axelsson, J. R. Boris, J. P. Moak, B. P. Goodman, K. R. Chémali, T. H. Chung, D. S. Goldstein, A. Diedrich, M. G. Miglis, M. M. Cortez, A. J. Miller, R. Freeman, I. Biaggioni, P. C. Rowe, R. S. Sheldon, C. A. Shibao, D. M. Systrom, G. A. Cook, T. A. Doherty, H. I. Abdallah, A. Darbari, and S. R. Raj. 2021. Postural orthostatic tachycardia syndrome (POTS): State of the science and clinical care from a 2019 National Institutes of Health expert consensus meeting—Part 1. Autonomic Neuroscience 235:102828. https:// doi.org/10.1016/j.autneu.2021.102828. Willy, R. W., L. T. Hoglund, C. J. Barton, L. A. Bolgla, D. A. Scalzitti, D. S. Logerstedt, A. D. Lynch, L. Snyder-Mackler, and C. M. McDonough. 2019. Patellofemoral pain. Journal of Orthopaedic and Sports Physical Therapy 49(9):CPG1-CPG95. https://doi.org/10.2519/ jospt.2019.0302. Yueh, B., N. Shapiro, C. H. MacLean, and P. G. Shekelle. 2003. Screening and management of adult hearing loss in primary care: Scientific review. Journal of the American Medical Association 289(15):1976-1985. https://doi.org/10.1001/jama.289.15.1976. JOURNAL VOLUMES Special Issue: Ehlers‐Danlos syndromes, hypermobility spectrum disorders, and associ- ated co‐morbidities: Reports from EDS ECHO. 2021. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics 187(4). https://onlinelibrary.wiley.com/ toc/15524876/2021/187/4. Special Issue: The Ehlers‐Danlos syndromes: Reports from the International Consortium on the Ehlers‐Danlos Syndromes. 2017. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics 175(1). https://onlinelibrary.wiley.com/toc/15524876/2017/175/1. WEBSITES Marfan and Loeys-Dietz Syndromes Marfan Foundation, The: Contains information on Marfan syndrome, as well as other he- reditary aortopathies and Ehlers-Danlos syndromes. https://www.marfan.org (accessed May 27, 2022). National Heart, Lung, and Blood Institute: Overview of Marfan syndrome. https://www.nhlbi. nih.gov/health-topics/marfan-syndrome (accessed May 27, 2022). U.S. National Library of Medicine, MedlinePlus: Overview of Loeys-Dietz syndrome. https:// medlineplus.gov/genetics/condition/loeys-dietz-syndrome (accessed May 27, 2022). U.S. National Library of Medicine, MedlinePlus: Overview of Marfan syndrome. https://med- lineplus.gov/genetics/condition/marfan-syndrome (accessed May 27, 2022). Ehlers-Danlos Syndromes (EDS) Ehlers-Danlos Society, The: Contains information on and resources pertaining to Ehlers- Danlos syndromes and hypermobility spectrum disorders for patients and families, as well as health care providers and researchers. https://ehlers-danlos.com (accessed May 27, 2022). National Institutes of Health, National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center: Overview of EDS. https://rarediseases.info.nih. gov/diseases/6322/ehlers-danlos-syndromes (accessed May 27, 2022). U.S. National Library of Medicine, MedlinePlus: Overview of EDS. https://medlineplus.gov/ genetics/condition/ehlers-danlos-syndrome (accessed May 27, 2022).

362 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Disability Resources Job Accommodations Network (JAN). https://askjan.org (accessed May 27, 2022). • JAN provides guidance on workplace accommodations and disability employment and is funded by a contract from the U.S. Department of Labor, Office of Disability Employment Policy (#1605DC-17-C-0038). • JAN provides A to Z listings by disability, topic, and limitation. The information is designed to help employers and individuals determine effective accommodations and comply with Title I of the Americans with Disabilities Act (ADA), including ADA information, accommodation ideas, and resources for additional information. ○ A to Z of Disabilities and Accommodations. https://askjan.org/a-to-z.cfm (ac- cessed May 27, 2022). ○ Marfan syndrome. https://askjan.org/disabilities/Marfan-Syndrome.cfm (ac- cessed May 27, 2022). ○ Ehlers-Danlos syndrome. https://askjan.org/disabilities/Ehlers-Danlos-Syndrome. cfm (accessed May 27, 2022). SchoolToolkit for EDS and JHS: This UK-based initiative outlines how schools have worked to best accommodate students so that they can achieve their highest learning potential. https://theschooltoolkit.org/reasonable-adjustments (accessed May 27, 2022).

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Heritable disorders of connective tissue (HDCTs) are a diverse group of inherited genetic disorders and subtypes. Because connective tissue is found throughout the body, the impairments associated with HDCTs manifest in multiple body systems and may change or vary in severity throughout an affected individual's lifetime. In some cases, these impairments may be severe enough to qualify an eligible child or adult for monetary benefits through the U.S. Social Security Administration's (SSA's) Social Security Disability Insurance or Supplemental Security Income program. SSA asked the National Academies of Sciences, Engineering, and Medicine to convene an expert committee that would provide current information regarding the diagnosis, treatment, and prognosis of selected HDCTs, including Marfan syndrome and the Ehlers-Danlos syndromes, and the effect of the disorders and their treatment on functioning. The resulting report, Selected Heritable Disorders of Connective Tissue and Disability, presents the committee's findings and conclusions.

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