6,405
Views
6
CrossRef citations to date
0
Altmetric
Reviews

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review

, ORCID Icon, , &
Pages 6166-6178 | Received 05 Oct 2020, Accepted 23 Jul 2021, Published online: 17 Aug 2021

References

  • Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.
  • Coi A, Santoro M, Garne E, et al. Epidemiology of achondroplasia: a population-based study in Europe. Am J Med Genet A. 2019;179(9):1791–1798.
  • Waller DK, Correa A, Vo TM, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A(18):2385–2389.
  • Foreman PK, Kessel F, Hoorn R, et al. Birth prevalence of achondroplasia: a systematic literature review and meta-analysis. Am J Med Genet A. 2020;182(10):2297–2316.
  • Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162–172.
  • Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129–134.
  • Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000;21(1):23–39.
  • Merker A, Neumeyer L, Hertel NT, et al. Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort. Am J Med Genet A. 2018;176(8):1723–1734.
  • Fredwall SO, Maanum G, Johansen H, et al. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179–197.
  • Ireland PJ, Pacey V, Zankl A, et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117–125.
  • Hays RD, Reeve BB. Measurement and modeling of health-related quality of life. Amsterdam (The Netherlands): Elsevier; 2008. p. 241–252.
  • Christensen TL, Djurhuus CB, Clayton P, et al. An evaluation of the relationship between adult height and health-related quality of life in the general UK population. Clin Endocrinol. 2007;67(3):407–412.
  • Bullinger M, Sommer R, Pleil A, et al. Evaluation of the American-English Quality of Life in Short Stature Youth (QoLISSY) questionnaire in the United States. Health Qual Life Outcomes. 2015;13:43.
  • Quitmann J, Bloemeke J, Silva N, et al. Quality of life of short-statured children born small for gestational age or idiopathic growth hormone deficiency within 1 Year of Growth Hormone Treatment. Front Pediatr. 2019;7:164.
  • Gonzalez Briceno LG, Viaud M, Beltrand J, et al. Improved general and height-specific quality of life in children with short stature after 1 year on growth hormone. J Clin Endocrinol Metab. 2019;104(6):2103–2111.
  • Stephen MD, Varni JW, Limbers CA, et al. Health-related quality of life and cognitive functioning in pediatric short stature: comparison of growth-hormone-naïve, growth-hormone-treated, and healthy samples. Eur J Pediatr. 2011;170(3):351–358.
  • Sprengers RW, Teraa M, Moll FL, et al. Quality of life in patients with no-option critical limb ischemia underlines the need for new effective treatment. J Vasc Surg. 2010;52(4):843–849.
  • Harada D, Namba N, Hanioka Y, et al. Final adult height in long-term growth hormone-treated achondroplasia patients. Eur J Pediatr. 2017;176(7):873–879.
  • Miccoli M, Bertelloni S, Massart F. Height outcome of recombinant human growth hormone treatment in achondroplasia children: a meta-analysis. Horm Res Paediatr. 2016;86(1):27–34.
  • Ginebreda I, Campillo-Recio D, Cárdenas C, et al. Surgical technique and outcomes for bilateral humeral lengthening for achondroplasia: 26-year experience. Musculoskelet Surg. 2019;103(3):257–262.
  • Hosny GA. Humeral lengthening and deformity correction. J Child Orthop. 2016;10(6):585–592.
  • Aldegheri R, Dall’Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B. 2001;10(3):238–247.
  • Schiedel F, Rödl R. Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. Disabil Rehabil. 2012;34(12):982–987.
  • Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231–241.
  • Kim SJ, Pierce W, Sabharwal S. The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients. Acta Orthop. 2014;85(2):181–186.
  • Hunter AG, Bankier A, Rogers JG, et al. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705–712.
  • Thompson S, Shakespeare T, Wright MJ. Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge. Disabil Rehabil. 2008;30(1):1–12.
  • EUPATI [Internet]. Patient-reported outcomes (PROs) assessment. Utrecht (The Netherlands): EUPATI; 2021 [cited 2021 Apr 6]. Available from: https://toolbox.eupati.eu/resources/patient-reported-outcomes-pros-assessment/
  • Cohen JS, Biesecker BB. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet Part A. 2010;152(5):1136–1156.
  • Karimi M, Brazier J. Health, health-related quality of life, and quality of life: what is the difference? Pharmacoeconomics. 2016;34(7):645–649.
  • Slade A, Isa F, Kyte D, et al. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018;13(1):61.
  • Moher D, Liberati A, Tetzlaff J, et al. Preferred reporting items for systematic reviews and Meta-Analyses: the PRISMA statement. PLoS Med. 2009;6(7):e1000097.
  • Ireland PJ, Mcgill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944–950.
  • Thompson NM, Hecht JT, Bohan TP, et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet. 1999;88(2):145–153.
  • Wigg K, Tofts L, Benson S, et al. The neuropsychological function of children with achondroplasia. Am J Med Genet A. 2016;170(11):2882–2888.
  • Nishimura N, Hanaki K. Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. J Clin Nurs. 2014;23(21–22):3045–3056.
  • Witt S, Kolb B, Bloemeke J, et al. Quality of life of children with achondroplasia and their parents - a German cross-sectional study. Orphanet J Rare Dis. 2019;14(1):194.
  • Kiemann C, Johnston L, Topfer C, et al. Travels’ impairments predict gross motor function and participation of school-aged children with achondroplasia [abstract]. Dev Med Child Neurol. 2017;59(S3):86.
  • Topfer C, Ireland P, Kiemann C, et al. Upper limb function in achondroplasia and its relationship with upper limb musculoskeletal impairments [abstract]. Dev Med Child Neurol. 2018;60(S1):45–46.
  • Balci HI, Kocaoglu M, Sen C, et al. Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? Bone Joint J. 2015;97-B(11):1577–1581.
  • Batıbay SG, Balcı Hİ, Bayram S, et al. Quality of life evaluation following limb lengthening surgery in patients with achondroplasia. Indian J Orthop. 2020;54(1):39–46.
  • Gollust SE, Thompson RE, Gooding HC, et al. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A. 2003;120A(4):447–458.
  • Rodriguez-Gomez J, Aldarondo A, Vidot F, et al. Achondroplasia: a pilot study on the psychosocial and medical features of a sample in Puerto Rico. Bol Asoc Med P R. 2015;107(3):58–65.
  • Mahomed NN, Spellmann M, Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet. 1998;78(1):30–35.
  • Yonko EA, Emanuel JS, Carter EM, et al. Quality of life in adults with achondroplasia in the United States. Am J Med Genet. 2021;185(3):695–701.
  • Rohenkohl AC, Bullinger M, Quitmann J. [Quality of life in children, adolescents, and young adults with achondroplasia]. Orthopade. 2015;44(3):212–218. German.
  • Rohenkohl AC, Sommer R, Bestges S, et al. [Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life?] Z Kinder Jugendpsychiatr Psychother. 2015;43(6):433–441. German.
  • Matsushita M, Kitoh H, Mishima K, et al. Physical, mental, and social problems of adolescent and adult patients with achondroplasia. Calcif Tissue Int. 2019;104(4):364–372.
  • Cervan MP, Da Silva MCP, Lima RLDO, et al. Comparative study of quality of life level between achondroplasics and non-achondroplasics subjects. J Bras Psiquiatr. 2008;57(2):105–111.
  • Kim SJ, Balce GC, Agashe MV, et al. Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life. Clin Orthop Relat Res. 2012;470(2):616–621.
  • Kim SJ, Agashe MV, Song SH, et al. Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. J Bone Joint Surg Br. 2012;94(1):128–133.
  • Leiva-Gea A, Delgado-Rufino FB, Queipo-de-Llano A, et al. Staged upper and lower limb lengthening performing bilateral simultaneous surgery of the femur and tibia in achondroplastic patients. Arch Orthop Trauma Surg. 2020;140(11):1665–1676.
  • Lorne H, Newman CJ, Unger S. Is height important for quality of life in children with skeletal dysplasias? Eur J Med Genet. 2020;63(4):103816.
  • Jennings SE, Ditro CP, Bober MB, et al. Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Qual Life Res. 2019;28(6):1457–1464.
  • Dhiman N, Albaghdadi A, Zogg CK, et al. Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res. 2017;26(5):1337–1348.
  • Johansen H, Andresen I-L, Naess EE, et al. Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis). Orphanet J Rare Dis. 2007;2:10.
  • Alade Y, Tunkel D, Schulze K, et al. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients. Clin Genet. 2013;84(3):237–243.
  • Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. SPI. 2010;13(3):335–340.
  • Quitmann J, Witt S, Rohenkohl A, et al. Quality of life in young patients with achondroplasia. Qualitative comparison of the perspectives of patients and parents. Monatsschr Kinderheilkd. 2014;162(5):428–434.
  • Witt S, Rohenkohl A, Bullinger M, et al. Understanding, assessing and improving health-related quality of life of young people with achondroplasia - a collaboration between a patient organization and academic medicine. Pediatr Endocrinol Rev. 2017;15(1):109–118.
  • Bloemeke J, Sommer R, Witt S, et al. Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res. 2019;28(9):2553–2563.
  • Bair MJ, Wu J, Damush TM, et al. Association of depression and anxiety alone and in combination with chronic musculoskeletal pain in primary care patients. Psychosom Med. 2008;70(8):890–897.
  • Kroenke K, Wu J, Bair MJ, et al. Reciprocal relationship between pain and depression: a 12-month longitudinal analysis in primary care. J Pain. 2011;12(9):964–973.
  • McWilliams LA, Cox BJ, Enns MW. Mood and anxiety disorders associated with chronic pain: an examination in a nationally representative sample. Pain. 2003;106(1):127–133.
  • Ohayon MM, Schatzberg AF. Chronic pain and major depressive disorder in the general population. J Psychiatr Res. 2010;44(7):454–461.
  • Albrecht GL, Devlieger PJ. The disability paradox: high quality of life against all odds. Soc Sci Med. 1999;48(8):977–988.
  • Fredwall SO, Steen U, De Vries O, et al. High prevalence of symptomatic spinal stenosis in norwegian adults with achondroplasia: a population-based study. Orphanet J Rare Dis. 2020;15(1):123.
  • Bloemeke J, Sommer R, Witt S, et al. Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the international classification of functioning disability and health: the achondroplasia personal life experience scale (APLES). Disabil Rehabil. 2019;41(15):1815–1825.
  • Ireland PJ, Savarirayan R, Pocovi T, et al. Development of the screening tool for everyday mobility and symptoms (STEMS) for skeletal dysplasia. Orphanet J Rare Dis. 2021;16(1):40.
  • Pfeiffer KM, Brod M, Smith A, et al. Assessing physical symptoms, daily functioning, and well‐being in children with achondroplasia. Am J Med Genet. 2021;185(1):33–45.