Advertisement

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia

  • Masaki MatsushitaEmail author
  • Hiroshi Kitoh
  • Kenichi Mishima
  • Satoshi Yamashita
  • Nobuhiko Haga
  • Sayaka Fujiwara
  • Keiichi Ozono
  • Takuo Kubota
  • Taichi Kitaoka
  • Naoki Ishiguro
Original Research
  • 23 Downloads

Abstract

Patients with achondroplasia (ACH) require various medical interventions throughout the lifetime. Survey of health-related quality of life (HRQoL) in adult ACH patients is essential for the evaluation of treatment outcomes performed during childhood such as growth hormone administration and limb lengthening surgeries, but no study focused on the treatment strategy by analyzing HRQoL of ACH patients. The purpose of this study was to assess whether final height impacted on HRQoL and to evaluate what kinds of medical interventions were positively or negatively associated with HRQoL. We included 184 ACH patients (10–67 years old) who were registered in the patients’ associations or who had a medical history of the investigators’ institutions, and analyzed HRQoL by using Short Form-36 and patient demographics. Physical component summary (PCS) was significantly lower than the standard values in each age, especially in elderly populations, while mental component summary (MCS) was similar to the standard values. Role/social component summary was deteriorated only in elderly populations. The PCS was improved in the patients who had a height of 140 cm or taller (p < 0.001). The PCS and MCS were strongly associated with the past medical history of spine surgeries (p < 0.001 and p = 0.028, respectively). A treatment strategy would be planned to gain a final height of 140 cm or taller during childhood in combination with growth hormone administration and limb lengthening surgeries. Appropriate medical management for neurological complications of adult ACH patients is required to maintain physical and mental function.

Keywords

Achondroplasia SF-36 Quality of life Height Limb lengthening Spine 

Notes

Acknowledgements

This work was supported by Health Labour Sciences Research Grants, the Ministry of Health, Labour and Welfare, Japan.

Author Contributions

MM, HK, KO, and NI designed the study. MM prepared the first draft of the paper. He is guarantor. KM, NH, SF, TK, and TK conducted the experimental work. SY was responsible for statistical analysis of the data. All authors revised the paper critically and approved the final version.

Compliance with Ethical Standards

Conflict of interest

Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Satoshi Yamashita, Nobuhiko Haga, Sayaka Fujiwara, Keiichi Ozono, Takuo Kubota, Taichi Kitaoka, and Naoki Ishiguro have no commercial associations that might pose a conflict of interest in connection with the submitted article.

Human and Animal Rights and Informed Consent

This study complied with ethical standards of research involving human participants and was approved by the Ethics Review Committee of Nagoya University Graduate School of Medicine (Reference Number: 2015-0412). Informed consent was obtained from all patients.

References

  1. 1.
    Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 146A (18):2385–2389.  https://doi.org/10.1002/ajmg.a.32485 CrossRefGoogle Scholar
  2. 2.
    Horton WA, Hall JG, Hecht JT (2007) Achondroplasia Lancet 370(9582):162–172.  https://doi.org/10.1016/S0140-6736(07)61090-3 Google Scholar
  3. 3.
    Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371(6494):252–254.  https://doi.org/10.1038/371252a0 CrossRefGoogle Scholar
  4. 4.
    Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78(2):335–342CrossRefGoogle Scholar
  5. 5.
    Sciubba DM, Noggle JC, Marupudi NI, Bagley CA, Bookland MJ, Carson BS, Ain MC, Jallo GI (2007) Spinal stenosis surgery in pediatric patients with achondroplasia. J Neurosurg 106(5 Suppl):372–378.  https://doi.org/10.3171/ped.2007.106.5.372 Google Scholar
  6. 6.
    Harada D, Namba N, Hanioka Y, Ueyama K, Sakamoto N, Nakano Y, Izui M, Nagamatsu Y, Kashiwagi H, Yamamuro M, Ishiura Y, Ogitani A, Seino Y (2017) Final adult height in long-term growth hormone-treated achondroplasia patients. Eur J Pediatr 176(7):873–879.  https://doi.org/10.1007/s00431-017-2923-y CrossRefGoogle Scholar
  7. 7.
    Kanaka-Gantenbein C (2001) Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton). J Pediatr Endocrinol Metab 14(1):17–26CrossRefGoogle Scholar
  8. 8.
    Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N (2014) Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. Bone Joint J 96-B(9):1269–1273.  https://doi.org/10.1302/0301-620X.96B9.33840 CrossRefGoogle Scholar
  9. 9.
    Kitoh H, Kitakoji T, Tsuchiya H, Katoh M, Ishiguro N (2007) Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. J Pediatr Orthop 27(6):629–634.  https://doi.org/10.1097/BPO.0b013e318093f523 CrossRefGoogle Scholar
  10. 10.
    Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30(6):473–483CrossRefGoogle Scholar
  11. 11.
    Mahomed NN, Spellmann M, Goldberg MJ (1998) Functional health status of adults with achondroplasia. Am J Med Genet 78(1):30–35CrossRefGoogle Scholar
  12. 12.
    Gollust SE, Thompson RE, Gooding HC, Biesecker BB (2003) Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 120A(4):447–458.  https://doi.org/10.1002/ajmg.a.20127 CrossRefGoogle Scholar
  13. 13.
    Alade Y, Tunkel D, Schulze K, McGready J, Jallo G, Ain M, Yost T, Hoover-Fong J (2013) Cross-sectional assessment of pain and physical function in skeletal dysplasia patients. Clin Genet 84(3):237–243.  https://doi.org/10.1111/cge.12045 CrossRefGoogle Scholar
  14. 14.
    Dhiman N, Albaghdadi A, Zogg CK, Sharma M, Hoover-Fong JE, Ain MC, Haider AH (2017) Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res 26(5):1337–1348.  https://doi.org/10.1007/s11136-016-1455-7 CrossRefGoogle Scholar
  15. 15.
    Fukuhara S, Bito S, Green J, Hsiao A, Kurokawa K (1998) Translation, adaptation, and validation of the SF-36 Health Survey for use in Japan. J Clin Epidemiol 51(11):1037–1044CrossRefGoogle Scholar
  16. 16.
    Fukuhara S, Ware JE Jr, Kosinski M, Wada S, Gandek B (1998) Psychometric and clinical tests of validity of the Japanese SF-36 Health Survey. J Clin Epidemiol 51(11):1045–1053CrossRefGoogle Scholar
  17. 17.
    Ramaswami U, Rumsby G, Spoudeas HA, Hindmarsh PC, Brook CG (1999) Treatment of achondroplasia with growth hormone: six years of experience. Pediatr Res 46(4):435–439.  https://doi.org/10.1203/00006450-199910000-00012 CrossRefGoogle Scholar
  18. 18.
    Hertel NT, Eklof O, Ivarsson S, Aronson S, Westphal O, Sipila I, Kaitila I, Bland J, Veimo D, Muller J, Mohnike K, Neumeyer L, Ritzen M, Hagenas L (2005) Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. Acta Paediatr 94(10):1402–1410CrossRefGoogle Scholar
  19. 19.
    Venkatesh KP, Modi HN, Devmurari K, Yoon JY, Anupama BR, Song HR (2009) Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. J Bone Joint Surg Br 91(12):1612–1617.  https://doi.org/10.1302/0301-620X.91B12.22418 CrossRefGoogle Scholar
  20. 20.
    Kim SJ, Agashe MV, Song SH, Choi HJ, Lee H, Song HR (2012) Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. J Bone Joint Surg Br 94(1):128–133.  https://doi.org/10.1302/0301-620X.94B1.27567 CrossRefGoogle Scholar
  21. 21.
    Donaldson J, Aftab S, Bradish C (2015) Achondroplasia and limb lengthening: results in a UK cohort and review of the literature. J Orthop 12(1):31–34.  https://doi.org/10.1016/j.jor.2015.01.001 CrossRefGoogle Scholar
  22. 22.
    Hald JD, Folkestad L, Harslof T, Brixen K, Langdahl B (2017) Health-related quality of life in adults with osteogenesis imperfecta. Calcif Tissue Int 101(5):473–478.  https://doi.org/10.1007/s00223-017-0301-4 CrossRefGoogle Scholar
  23. 23.
    Ablon J (2003) Personality and stereotype in osteogenesis imperfecta: behavioral phenotype or response to life’s hard challenges? Am J Med Genet A 122A(3):201–214.  https://doi.org/10.1002/ajmg.a.20257 CrossRefGoogle Scholar
  24. 24.
    Kodraliu G, Mosconi P, Groth N, Carmosino G, Perilli A, Gianicolo EA, Rossi C, Apolone G (2001) Subjective health status assessment: evaluation of the Italian version of the SF-12 Health Survey. Results from the MiOS project. J Epidemiol Biostat 6(3):305–316CrossRefGoogle Scholar
  25. 25.
    D’Ambrosi R, Ragone V, Caldarini C, Serra N, Usuelli FG, Facchini RM (2017) The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. Arch Orthop Trauma Surg 137(2):209–215.  https://doi.org/10.1007/s00402-016-2608-4 CrossRefGoogle Scholar
  26. 26.
    Ablon J (1990) Ambiguity and difference: families with dwarf children. Soc Sci Med 30(8):879–887CrossRefGoogle Scholar
  27. 27.
    Malot R, Park KW, Song SH, Kwon HN, Song HR (2013) Role of hybrid monolateral fixators in managing humeral length and deformity correction. Acta Orthop 84(3):280–285.  https://doi.org/10.3109/17453674.2013.786636 CrossRefGoogle Scholar
  28. 28.
    Kashiwagi N, Suzuki S, Seto Y, Futami T (2001) Bilateral humeral lengthening in achondroplasia. Clin Orthop Relat Res 391:251–257CrossRefGoogle Scholar
  29. 29.
    Oda T, Abe Y, Katsumi Y, Ohi H, Nakamura T, Inagaki K (2016) Reliability and validity of the japanese version of the Michigan hand outcomes questionnaire: a comparison with the DASH and SF-36 questionnaires. J Hand Surg Asian Pac 21(1):72–77.  https://doi.org/10.1142/S2424835516500119 CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Masaki Matsushita
    • 1
    Email author
  • Hiroshi Kitoh
    • 1
  • Kenichi Mishima
    • 1
  • Satoshi Yamashita
    • 2
  • Nobuhiko Haga
    • 3
  • Sayaka Fujiwara
    • 3
  • Keiichi Ozono
    • 4
  • Takuo Kubota
    • 4
  • Taichi Kitaoka
    • 4
  • Naoki Ishiguro
    • 1
  1. 1.Department of Orthopaedic SurgeryNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Medical IT CenterNagoya University HospitalNagoyaJapan
  3. 3.Department of Rehabilitation Medicine, Graduate School of MedicineThe University of TokyoTokyoJapan
  4. 4.Department of PediatricsOsaka University Graduate School of MedicineOsakaJapan

Personalised recommendations