The APPLICATION OF THE WHODAS 2.0 QUESTIONNAIRE IN PATIENTS WITH SKELETAL DYSPLASIAS WITH SHORT STATURE AND REHABILITATION TREATMENT
Disability in Mexican people of short stature
Keywords:
Skeletal dysplasias, Short stature (Dwarfism), WHODAS 2.0 Questionnaire, Disability, Physiotherapy modalitiesAbstract
Skeletal dysplasias (SD) are a group of genetic disorders that affect the development of bones, cartilage, and joints, causing abnormal skeletal growth and short stature. SD can lead to health complications that can lead to disability. The objective of this study is to analyze "The Measurement of Health and Disability" in adults with SD and short stature through the application of the "WHODAS 2.0" questionnaire and to design a comprehensive rehabilitation treatment.
Materials and Methods: This is a clinical, cross-sectional, descriptive and analytical study. 49 adult patients diagnosed with ED and short stature were studied (31 patients with Achondroplasia, 10 with Osteogenesis Imperfecta, 5 with Hypochondroplasia, 1 with Spondylometaphyseal Dysplasia, 1 with Metatropic Dysplasia and 1 with Spondyloepiphyseal Dysplasia). The "WHODAS 2.0" questionnaire was applied, which aims to determine the level of functioning in six life domains: 1. Cognition, 2. Mobility, 3. Personal Care, 4. Relationships, 5. Activities of Daily Living and 6. Participation. A rehabilitation treatment was designed.
Results-Conclusions: All people with ED and short stature have some disability, the most affected domains are mobility, activities of daily living and participation with a severe disability. The domains that presented moderate deficiencies were Self-care, activities of daily living with work, and relationships. The cognitive domain presented a mild disability. Most impairments are caused by their underlying pathology, and it is important to have rehabilitation treatments for this population.
Publication Facts
Reviewer profiles N/A
Author statements
Indexed in
- Editor & editorial board
- profiles
- Academic society
- N/A
To learn about these publication facts, click 
PF is maintained by the Public Knowledge Project
References
Unanue N, Moënne K, Baar A. Manejo de Displasias Esqueléticas. Rev médica Clín Las Condes. 2015 Jul;26(4):470–82. http://dx.doi.org/10.1016/j.rmclc.2015.07.005.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. PMID: 36347803.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. PMID: 36779427; PMCID: PMC10081954.
Jain M, Saber AY. Enanismo. [Actualizado el 24 de junio de 2023]. En: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; enero de 2025. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK563282/.
Hoover-Fong JE, Horton WA, Hecht JT. Trastornos que afectan a los receptores transmembrana. En: Nelson. Tratado de Pediatría. 21a ed. Elsevier; 2020, p.3725-3728.
Llano-Rivas I, Fernández-Toral J, Navarro-Vera I. Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable [Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. An Pediatr (Barc). 2011 Jun;74(6):405-8. Spanish. doi: 10.1016/j.anpedi.2011.01.005. Epub 2011 Mar 11. PMID: 21397576.
Ibáñez A, Hodgson F. Osteogénesis imperfecta. Rev médica Clín Las Condes. 2021 May;32(3):311–8. http://dx.doi.org/10.1016/j.rmclc.2020.09.004.
Chalès G, Guggenbuhl P. Mucopolisacaridosis y oligosacaridosis: manifestaciones osteoarticulares. EMC Apar Locomot. 2017; Sep;50(3):1-9. doi:10.1016/s1286-935x(17)86070-6.
Petty RE, Fuhlbrigge RC, Laxer RM. Primary disorders of connective tissue. En: Textbook of Pediatric Rheumatology. 8a ed. Elsevier; 2021, p. 714-723.
Chiaramonte SS, Del Pino M, Fano V. Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study. Arch Argent Pediatr. 2025 Dec 1;123(6):e202510663. English, Spanish. doi: 10.5546/aap.2025-10663.eng. Epub 2025 Jul 17. PMID: 40662877.
WHO Disability Assessment Schedule (WHODAS 2.0), https://www.who.int/standards/classifications/international-classification-of-functioning-disability-and-health/who-disability-assessment-schedule; 2012 [consultado el 19 de enero de 2026].
Who.int; https://iris.who.int/bitstream/handle/10665/43360/9241545445_spa.pdf; 2001 [consultado el 19 de enero de 2026].
Enanismo, Mayoclinic.org.; https://www.mayoclinic.org/es/diseases-conditions/dwarfism/symptoms-causes/syc-20371969 [consultado el 19 de enero de 2026].
Wigg K, Tofts L, Benson S, Porter M. The neuropsychological function of children with achondroplasia. Am J Med Genet A. 2016 Nov;170(11):2882-2888. doi: 10.1002/ajmg.a.37779. Epub 2016 Sep 8. PMID: 27605460.
Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, Fletcher JM. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet. 1999 Apr 16;88(2):145-53. doi: 10.1002/(sici)1096-8628(19990416)88:2<145::aid-ajmg10>3.0.co;2-b. PMID: 10206234.
Alade Y, Tunkel D, Schulze K, McGready J, Jallo G, Ain M, Yost T, Hoover-Fong J. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients. Clin Genet. 2013 Sep;84(3):237-43. doi: 10.1111/cge.12045. Epub 2012 Nov 29. PMID: 23106480.
Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014 Jun 24;7:117-25. doi: 10.2147/TACG.S51485. PMID: 25053890; PMCID: PMC4104450.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. PMID: 36347803.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra
This work is licensed under a Creative Commons Attribution 4.0 International License.
© Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which allows to reproduce and modify the content if appropiate recognition to the original source is given.
