Pediatric physiotherapeutic intervention in Classical Ehlers-Danlos

Authors

  • Mónica Planas Rego Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México https://orcid.org/0009-0005-7768-1240
  • Paulette Laniado Abud Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México https://orcid.org/0009-0002-3312-765X
  • Miguel Ángel Martínez Camacho Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México https://orcid.org/0000-0001-5088-4666
  • Natalie Fastag Weber Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México https://orcid.org/0009-0006-6826-2850
  • Paloma Gómez Llano Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México
  • Irlanda Olvera Gómez Universidad Anáhuac México, Facultad de Ciencias de la Salud, Estado de México, México https://orcid.org/0000-0003-1698-6559

DOI:

https://doi.org/10.36105/psrua.2024v4n8.05

Keywords:

Ehlers-Danlos Syndrome (EDS), Classical Ehlers-Danlos Syndrome (cEDS), Pediatrics, Physical Therapy, Treatment, Collagen

Abstract

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterized by mutations in the genes that encode collagen, collagen-modifying enzymes, and other extracellular matrix proteins. These alterations generate clinical manifestations such as joint hypermobility, skin fragility and musculoskeletal complications, which significantly impact the quality of life of patients. Although scientific evidence on the physiotherapy management of EDS is limited, it has been observed that specialized interventions can improve joint stability, muscle strength and functionality, especially in pediatric patients. This article aims to provide an updated review on EDS in the pediatric population and propose a comprehensive and multidisciplinary physiotherapeutic approach, focused on the prevention of complications, the management of symptoms and the promotion of active participation in activities of daily living.

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References

Lozano Sánchez FS, Torres Hernández JA. Epónimos del síndrome Ehlers-Danlos y su variante tipo IV o Sack-Barabas. Angiología. 2017 Nov;69(6):398–400. https://doi.org/10.1016/j.angio.2017.05.001

Abbas AK, Aster JC, Kumar V. Trastornos Genéticos. In: ROBBINS Y COTRAN PATOLOGIA ESTRUCTURAL Y FUNCIONAL. S.l.: ROBBINS Y COTRAN; 2021. p. Capitulo 5.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8–26. https://doi.org/10.1002/ajmg.c.31552

Basel D. Síndrome de Ehlers Danlos. In: Nelson textbook of pediatrics [Internet]. Edition 21. Phialdelphia, PA: Elsevier; 2020. p. Cap 679 p.3527. Available from: https://www.clinicalkey.es/#!/browse/book/3-s2.0-C20151024243

Mitchell RN, Kumar V, Abbas AK, Aster JC. Trastornos genéticos. In: Pocket companion to Robbins and Cotran pathologic basis of disease. Ninth edition. Philadelphia, PA: Elsevier; 2017. p. 147.

Goldman L, Schafer AI, editors. Goldman-Cecil medicine. 26th edition. Philadelphia, PA: Elsevier; 2020. Cap. 224.

Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597–605. https://doi.org/10.1097/GIM.0b013e3181f3957f

De Paepe A, Malfait F. The Ehlers–Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1–11. https://doi.org/10.1111/j.1399-0004.2012.01858.x

EDS. The Ehlers Danlos Society. 2023 [cited 2023 Nov 19]. Genetics and Inheritance of EDS and HSD. Available from: https://www.ehlers-danlos.com/genetics-and-inheritance/

Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers–Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27–39. https://doi.org/10.1002/ajmg.c.31554

Miklovic T, Sieg VC. Ehlers-Danlos Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Nov 19]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK549814/

Voermans NC, Knoop H, Bleijenberg G, Van Engelen BG. Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment. J Pain Symptom Manage. 2010 Sep;40(3):370–8. https://doi.org/10.1016/j.jpainsymman.2009.12.021

Villani E, Garoli E, Bassotti A, Magnani F, Tresoldi L, Nucci P, et al. The Cornea in Classic Type Ehlers-Danlos Syndrome: Macro- and Microstructural Changes. Investig Opthalmology Vis Sci. 2013 Dec 11;54(13):8062. https://doi.org/10.1167/iovs.13-12427

Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, et al. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic. Neurogastroenterol Motil. 2015 Nov;27(11):1657–66. https://doi.org/10.1111/nmo.12642

Zurita Ortega F, Ruiz Rodríguez L, Martínez Martínez A, Fernández Sánchez M, Rodríguez Paiz C, López Liria R. Hiperlaxitud ligamentosa (test de Beighton) en la población escolar de 8 a 12 años de la provincia de Granada. Reumatol Clínica. 2010 Jan 1;6(1):5–10. https://doi.org/10.1016/j.reuma.2009.07.005

Genetic and Rare Diseases Information Center. National Center for Advancing Translational Sciences. 2017. Síndrome de Ehlers-Danlos. Available from: https://rarediseases.info.nih.gov/espanol/12323/sindrome-de-ehlers-danlos

Morlino S, Piedimonte C, Castori M. Reconhecimento e tratamento das sindromes de Ehlers. Cuadernos de Neuropsicología [Internet]. 2016 [cited 2023 Nov 21];10. Available from: https://aprenderly.com/doc/3435299/reconhecimento-e-tratamento-das-sindromes-de-ehlers

Castori M, Bruschini M, Blundo C. Nutritional Supplementation in Ehlers-Danlos Syndrome. In: Bioactive Nutraceuticals and Dietary Supplements in Neurological and Brain Disease [Internet]. Elsevier; 2015 [cited 2023 Nov 21]. p. 161–70. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780124114623000175

Lissauer T, Carroll W, Shiels KA, Singh R, Craft A, editors. Desarrollo normal del niño, audición y visión - Texto ilustrado de pediatría. In: Illustrated textbook of paediatrics. Sixth edition. Amsterdam: Elsevier; 2022. p. Chapter 3, 37-51.

Vargas Castillo MD. HISTORIA CLÍNICA Y VALORACIÓN EN FISIOTERAPIA. Hist CLÍNICA Valorac EN Fisioter. 2020 Oct 5;0(0):1–0.

Corrado B, Ciardi G. Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. J Phys Ther Sci. 2018;30(6):843–7. https://doi.org/10.1589/jpts.30.843

Miró J, Huguet A, Nieto R, Paredes S, Baos J. Valoración de la escala de dolor de caras-revisada (faces pain scale-revised) para evaluar la intensidad del dolor pediátrico en niños castellano parlantes. Rev Soc Esp Dolor. 2005 Oct;12(7):407–16. https://doi.org/10.1016/S1134-8046(05)73625-7

Aertssen WFM, Ferguson GD, Smits-Engelsman BCM. Reliability and Structural and Construct Validity of the Functional Strength Measurement in Children Aged 4 to 10 Years. Phys Ther. 2016 Jun 1;96(6):888–97. https://doi.org/10.2522/ptj.20150377

Robertson RJ, Goss FL, Aaron DJ, Gairola A, Kowallis RA, Liu Y, et al. One Repetition Maximum Prediction Models for Children Using the OMNI RPE Scale. J Strength Cond Res. 2008 Jan;22(1):196–201. https://doi.org/10.1519/JSC.0b013e31815ef3a4

Guerra JL. Historia clínica en rehabilitación. In: Manual de Fisioterapia. 1st ed. El Manual Moderno, S.A.de C.V.; 2004. p. 57–8.

Martínez MP. Caracterización clínica y manejo del Síndrome de Ehlers Danlos. Rev Ciencias Médicas. 2017;

Vas AK, Luedtke A, Ortiz E, Neville M. Bottom-Up and Top-Down Cognitive Rehabilitation Following Mild Traumatic Brain Injury - Occupational Therapists’ Perspective: An Online Survey Study. Indian J Occup Ther. 2021 Apr;53(2):56–63. https://doi.org/10.4103/ijoth.ijoth_33_21

Marco de la OMS para la Participación Significativa de Las Personas con Enfermedades No Transmisibles y Afecciones de Salud Mental y Neurológicas. 1st ed. Geneva: World Health Organization; 2023. 1 p.

Lin JH. “Just Dance”: The Effects of Exergame Feedback and Controller Use on Physical Activity and Psychological Outcomes. Games Health J. 2015 Jun;4(3):183–9. https://doi.org/10.1089/g4h.2014.0101

Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A, et al. Medication, Surgery, and Physiotherapy Among Patients With the Hypermobility Type of Ehlers-Danlos Syndrome. Arch Phys Med Rehabil. 2011 Jul;92(7):1106–12. https://doi.org/10.1016/j.apmr.2011.02.008

Ferrell WR, Tennant N, Sturrock RD, Ashton L, Creed G, Brydson G, et al. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis Rheum. 2004;50(10):3323–8. https://doi.org/10.1002/art.20561

Faigenbaum AD, Milliken LA, Westcott WL. Maximal Strength Testing in Healthy Children. J Strength Cond Res. 2003;17(1):162. https://doi.org/10.1519/1533-4287(2003)017<0162:MSTIHC>2.0.CO;2

Casanelles M del C, Pérez-jurado LA. Genética clínica y dismorfología - ClinicalKey. In: Farreras Rozman Medicina Interna [Internet]. 19th ed. Elsevier. España; 2020 [cited 2023 Nov 18]. p. 150, 1145–52. Available from: https://www.clinicalkey.es/

Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. PubMed [Internet]. 2007 [cited 2023 Nov 21]; Available from: https://pubmed.ncbi.nlm.nih.gov/20301422/

Demeke ZD, Assefa YA, Abich Y, Chala MB. Home-based therapy and its determinants for children with cerebral palsy, exploration of parents’ and physiotherapists’ perspective, a qualitative study, Ethiopia. Samuel AJ, editor. PLOS ONE. 2023 Feb 27;18(2):e0282328. https://doi.org/10.1371/journal.pone.0282328

Martínez Sánchez LM, Hernández-Sarmiento JM, Jaramillo-Jaramillo LI, Villegas-Alzate JD, Álvarez-Hernández LF, Roldan-Tabares MD, et al. La educación en salud como una importante estrategia de promoción y prevención: Health education as an important promotion and prevention strategy. Arch Med Manizales. 2020 Jun 16;20(2):490–504. https://doi.org/10.30554/archmed.20.2.3487.2020

Vol. 4 Núm. 8

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Published

2024-12-20

How to Cite

Planas Rego, M., Laniado Abud, P., Martínez Camacho, M. Ángel, Fastag Weber, N., Gómez Llano, P., & Olvera Gómez, I. (2024). Pediatric physiotherapeutic intervention in Classical Ehlers-Danlos. Proceedings of Scientific Research Universidad Anáhuac. Multidisciplinary Journal of Healthcare, 4(8), 93–100. https://doi.org/10.36105/psrua.2024v4n8.05

Issue

Vol. 4 No. 8 (2024): Proceedings of Scientific Research Universidad Anáhuac

Section

Review Articles

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Copyright (c) 2024 Mónica Planas Rego, Paulette Laniado Abud, Miguel Ángel Martínez Camacho, Natalie Fastag Weber, Paloma Gómez Llano, Irlanda Olvera Gómez

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