Authors (including presenting author) :
Chan MKL(1), Choy SYT(1), Chow JHW(1), Yeung MLN(1), Ma EWL(1)
Affiliation :
(1) Community Rehabilitation Service Support Center, Hospital Authority, Hong Kong
Introduction :
Achondroplasia (ACH) is the most prevalent form of skeletal dysplasia, affecting approximately 1 in 25,000 individuals globally. The hallmark feature is severe short stature accompanied by disproportionate bone growth, resulting in a long, narrow trunk and rhizomelic shortening of the upper limbs. Patients with achondroplasia consistently face limitations in physical functioning and poorer quality of life compared to average-statured individuals. Studies have also reported heightened psychosocial challenges during adulthood.
Objectives :
To design holistic intervention approach to improve the clients' mobility and activities of daily living (ADL) performance.
Methodology :
The cases with diagnosis Achondroplasia (ACH) who referred to CRSSC were recruited for analysis. The demographic profile of the patients, including their age, gender, and height, was explored. Moreover, the referral purposes and treatment goals were identified. The Goal Attainment Scale (GAS) was used to evaluate the treatment outcomes.
Result & Outcome :
8 patients were recruited from 1/4/22 to 31/3/24. 4 were male and 4 were female. Their heights ranged from 120-132 cm, and their ages were 11-68. 2 were referred for driver rehabilitation, while the others were referred for assistive technology service. The assistive technology training covered mobility (power wheelchair) and self-care (home intelligence devices). All clients achieved their goals and expressed satisfaction, with their Goal Attainment Scores improving from -1 to 1.5 on average after the intervention.
Our results echo the conclusion of the literature review by Constantinides et al. (2022), which found that adult patients with achondroplasia often face challenges with walking and activities of daily living (ADLs) due to impaired endochondral skeletal growth, limb shortening, and medical complications. Rehabilitation professionals should regularly assess the physical functioning and psychosocial well-being of individuals with achondroplasia. The use of assistive technology may play a crucial role in enhancing their performance and quality of life.
