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. 2022;31(1):18-24.
doi: 10.1297/cpe.2021-0043. Epub 2021 Nov 1.

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study

Akiko Ajimi  1 , Masaki Matsushita  2 , Kenichi Mishima  2 , Nobuhiko Haga  3 , Sayaka Fujiwara  3 , Keiichi Ozono  4 , Takuo Kubota  4 , Taichi Kitaoka  4 , Shiro Imagama  2 , Hiroshi Kitoh  5   6
Affiliations

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study

Akiko Ajimi et al. Clin Pediatr Endocrinol. 2022.

Abstract

The health-related quality of life is reduced in patients with achondroplasia (ACH) and hypochondroplasia (HCH); however, the detailed inconveniences in the daily living and individual adaptations have not been elucidated. This study aimed to evaluate the inconvenience and adaptation in patients with ACH/HCH. A cross-sectional study was conducted in patients with ACH/HCH aged 20 yr or older. Questionnaires were sent to 567 patients (described 86) with a medical history at the co-authors' institutions or who were registered at the patients' association with ACH in Japan. The questionnaire included a free description format for the inconveniences and adaptations in daily living; a content analysis was performed. The recorded inconveniences included 148 physical, 84 mental, and 52 social problems. Patients who underwent spine surgery had significantly more recorded physical problems than those who did not (p < 0.05). Pain and numbness were significantly higher in patients aged ≥ 50 yr (p < 0.05). The 160 and 1 adaptations were for physical and social problems, respectively. No patient adaptation was found for mental health problems. Individual adaptations by ACH/HCH patients can improve only some aspects of physical and social problems. Multilateral social support is needed to resolve patients' issues.

Keywords: HRQoL; achondroplasia; hypochondroplasia; inconvenience; adaptation.

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Conflict of interest statement

The authors declare no conflicts of interest in connection with the submitted article.

Figures

Fig. 1.
Fig. 1.
Flow chart of eligible participants.
Fig. 2.
Fig. 2.
Inconveniences and adaptations described from ACH/HCH patients: A. Themes, categories, and subcategories of inconvenience. B. Category and subcategory of adaptation. C. Theme and category of patients’ inconvenience and adaptation. The recorded number of each subcategory and category was shown as a bar graph.
See this image and copyright information in PMC

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