Quality of life, physical functioning, and psychosocial function among patients with achondroplasia<i>:</i> a targeted literature review
Creators: name: Constantinides, Constantinos
name: Landis, Sarah H.
name: Jarrett, James
name: Quinn, Jennifer
name: Ireland, Penelope J.
Publisher: name: Taylor & Francis
Year: 2021
Subjects: subject: Medicine
subject: 59999 Environmental Sciences not elsewhere classified
subject: FOS: Earth and related environmental sciences
subject: Sociology
subject: FOS: Sociology
subject: 69999 Biological Sciences not elsewhere classified
subject: FOS: Biological sciences
subject: Developmental Biology
subject: 111714 Mental Health
subject: FOS: Health sciences

description: Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized. PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients; (3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations. Of 1664 records identified, 23 primary studies (sample size 8–437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY. The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions.IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals.Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia.The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters.Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools. Patients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals. Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia. The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters. Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.