Literatuur

Voor een overzicht van relevante publicaties per onderwerp kan u ook gebruik maken van de Kennisdatabank voor Artsen en Professionals van de Nederlandse Vereniging van Ehlers-Danlos-patiënten.

Bilkey W., Baxter T., Kottke F. & Mundale M. (1981): Muscle formation in Ehlers-Danlos syndrome. Archives of Physical Medicine and Rehabilitation. 62(9): 444-448.

Castori M., Tinkle B., Levy H., Grahame R., Malfait F. & Hakim A. (2017): A framework for the classification of joint hypermobility and related conditions. American Journal of Medical Genetics – Seminars in Medical Genetics. 175(1):148-157.

Cruz-Jentoft A.J., Bahat G., Bauer J., Boirie Y., Bruyère O., Cederholm T., Cooper C., Landi F., Rolland Y., Sayer A.A., Schneider S.M., Sieber C.C., Topinkova E., Vandewoude M., Visser M. & Zamboni M (2019): Writing Group for the European Working Group on Sarcopenia in Older People 2 (EWGSOP2), and the Extended Group for EWGSOP2. Sarcopenia: revised European consensus on definition and diagnosis. Age Ageing. 48(1):16-31. Erratum in: Age Ageing. 48(4): 601.

De Baets S., Cruyt E., Calders P., De Wandele I., Malfait F., Vanderstraeten G., Van Hove G. & Van De Velde D. (2022): Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls. PLoS ONE 17(6): e0269608.

Demmler J.C., Atkinson M.D., Reinhold E.J., Choy E., Lyons R.A. & Brophy S.T. (2019): Diagnose prevelance of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open, National Library of Medicin.

De Wandele I., Rombaut L., De Backer T., Peersman W., Da Silva H., De Mits S., De Paepe A., Calders P. & Malfait F (2016): Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. Rheumatology (Oxford). 5(8): 1412-1420.

De Wandele I., Rombaut L., Leybaert L., Van de Borne P., De Backer T., Malfait F., De Paepe A. &, Calders P. (2014): Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome. Semin Arthritis Rheum. 44(1): 93-100.

Engelbert R.H.H., Juul-Kristensen B., Pacey V., De Wandele I., Smeenk S., Woinarosky N., Sabo S., Scheper M.C. Russek L. & Simmonds J.V. (2017): The Evidence-Based Rationale for Physical Therapy Treatment of Children, Adolescents, and Adults Diagnosed With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 175C: 158–167.

Ericson B.E. Jr. & Wolman R. (2017): Orthopaedic management of the Ehlers–Danlos syndromes. American Journal of Medical Genetics – Seminars in Medical Genetics. 175(1): 188-194.

Glans M., Humble M.B., Elwin M. & Bejerot S. (2020): Self-rated joint hypermobility: the five-part questionnaire evaluated in a Swedish non-clinical adult population. BMC Muscoloskeletal Disorders. 21 (174).

Halverson C.M.E., Clayton E.W., Garcia Sierra A. & Francomano C. (2021): Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero’s journey. American Journal of Medical Genetics, Seminars in Medical Genetics. 187(4): 416-424.

Halverson C.M.E., Penwell H.L. & Francomano C.L. (2023): Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.
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Hakim A.J. & Grahame R. (2004). Non-musculoskeletal symptoms in joint hypermobility syndrome. Indirect evidence for autonomic dysfunction? Rheumatology. 43: 1194–1195.

Hakim A.J., Grahame R., Norris P. & Hopper C. (2005): Local anesthetic failure in joint hypermobility syndrome. Journal of the Royal Society of Medicine. 98: 84–85.

Hakim A.J., Tinkle B.T. & Francomano C.A. (2021): Ehlers-Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO. American Journal of Medical Genetics, Seminars in Medical Genetics.187(4): 413-415.

Kendel N.E., Stanek J.R., Thomas B.B., CPNP-PC, Ardoin S.P., O’Brien S.H. (2022): Assessing Bleeding Symptoms in Patients with Generalized Joint Hypermobility. The Ohio State University, College of Medicin. Poster.

Kulas-Søborg M.-L., Leganger J., Quitzau Mortensen L., Rosenberg J. & Burcharth J. (2017): Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. Rheumatology (Oxford). 56(5): 763-767.

Malfait F., Castori M., Francomano C.A., Giunta C., Kosho T. & Byers P.H. (2020): The Ehlers-Danlos syndromes. Nature Reviews Disease Primers. 6 (64).

Malfait F, Francomano C, Byers P, Belmont J., Berglund B., Black J., Bloom L., Bowen J.M., Bady A.F., Burrows N.G., Castori M., Cohen H., Colombi M., Demirdas S., De Backer J., De Paepe A., Fournel-Gigleux S., Frank M., Ghali N., Giunta C., Grahame R., Hakim A., Jeunemaitre X., Johnson D., Juul-Kristensen B., Kapferer-Seebacher I., Kazkaz H., Kosho T., Lavallee M.K., Levy H., Mendoza-Londono R., Pepin M., Pope F.M., Reinstein E., Robert L., Rohrbach M., Sanders L., Sobey G.J., Van Damme T., Vandersteen A., van Mourik C., Voermans N., Wheeldon N., Zschocke J. & Brad T. (2017): The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics, Seminars in Medical Genetics. 175(1): 8-26.

Moore H.G., Burroughs P.J., Rubin L.E.,Frumberg D.B.,Sculco P.K. & Grauer J.N. (2022): Patients With Ehlers-Danlos Syndromes Experience Higher Rates of Prosthetic Dislocation After Total Hip Arthroplasty and Worse Implant Survival at 5 Years. Journal of the American Academy of Orthopaedic Surgeons. 30(4): 177-183.

Nicholson L.L., Simmonds J., Pacey V., De Wandele I., Rombaut L., Williams C.M. & Chan C. (2022): International Perspectives on Joint Hypermobility: A Synthesis of Current Science to Guide Clinical and Research Directions. Journal of Clinical Rheumatology. 28(6): 314-320.

Palomo-Toucedo I.C., Leon-Larios F., Reina-Bueno M., Vazquez-Bautista M. C., Munuera-Martinez P.V. & Dominguez-Maldonado G. (2020): Psychosocial Influence of Ehlers–Danlos Syndrome in Daily Life of Patients: A Qualitative Study. International Journal of Environmental Research and Public Health. 17(17): 6425.

Pyeritz R.E. (2000): Ehlers-Danlos syndromes. The New England Journal of Medicine. 342: 730-732.

Rombaut L., Malfait F., De Wandele I., Cools A., Thijs Y., De Paepe A. & Calders P. (2011): Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. Archives of Physical Medicine and Rehabilitation. 92: 1106–1112.

Rombaut L., Malfait F., De Wandele I., Taes Y., Thijs Y., De Paepe A. & Calders P. (2012): Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. Arthritis Care & Research. 64: 1584–1592.

Russek L. N., Block N. P., Byrne E., Chalela S., Chan C., Comerford M., Frost N., Hennessey S., McCarthy A., Nicholson L. L., Parry J., Simmonds J., Stott P. J., Thomas L., Treleaven J., Wagner W., Hakim A. (2023): Presentation and physical therapy management of upper cervical instability in patients with symptomatic generalized joint hypermobility: International expert consensus recommendations. Frontiers in Medicine, Section Translational Medicine. 9: 1072764.

Sacheti A., Szemere J., Bernstein B., Tafas T., Schechter N. & Tsipouras P. (1997): Chronic pain is a manifestation of the Ehlers-Danlos syndrome. Journal of Pain and Symptom Management. 14(2): 88-93.

Scheper M., Rombaut L., De Vries J., De Wandele I., Van Der Esch M., Visser B., Malfait F., Calders P. & Engelbert R (2016): The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome: The impact of proprioception. Disability Rehabilitation. 39: 1391-1397.

Syx D., De Wandele I., Symoens S., De Rycke R., Hougrand O., Voermans N., De Paepe A. & Malfait F. (2019): Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Human Moleculair Genetics 28(11): 1853-1864.

Syx D., De Wandele I., Rombaut L. & Malfait F. (2017): Hypermobility, the Ehlers-Danlos syndromes and chronic pain. Clinical and Experimental Rheumatology. 35 Suppl. 107(5):116-122.

Terry R.H., Palmer S.T., Rimes K.A., Clark C.J., Simmonds J.V. & Horwood J.P. (2015): Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care. Family Practice 32(3): 354-358.

Tinkle B., Castori M., Berglund B., Cohen H., Grahame R., Kazkaz H. & Levy H. (2017): Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics – Seminars in Medical Genetics. 175(1): 48-69.

Vernino S., Bourne K.M., Stiles L.E., Grubb B.P., Fedorowski A., Stewart J.M., Arnold A.C., Pace L.A., Axelsson J., Boris J.R., Moak J.P., Goodman B.P., Chémali K.R., Chung T.H., Goldstein D.S., Diedrich A., Miglis M.G., Cortez M.M., Miller A.J., Freeman R., Biaggioni I., Rowe P.C., Sheldon R.S., Shibao C.A., Systrom D.M., Cook G.A., Doherty T.A., Abdallah H.I., Darbari A. &, Raj S.R. (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. Auton Neurosci. 235: 102828.

Voermans N.C., Altenburg T.M., Hamel B.C., de Haan A. & van Engelen B.G. (2007): Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients. Neuromuscular Disorders. 17(8): 597-602.