“We Live in an Average Height World”: Perspectives of People with Short Stature Skeletal Dysplasia on Nutrition, Weight and Physical Movement

Abstract

Background: Skeletal dysplasia comprise 700 heterogeneous conditions affecting skeletal growth and development. Challenges with infant feeding, nutrition, weight management and physical activity are reported, yet patient perspectives of these factors have not been investigated. Methods: Individual or small group (2-3 participants) interviews were used to explore infant feeding, nutrition, weight management and physical movement. Participants with a primary skeletal dysplasia or their parents were eligible to participate and recruited from a single site in Melbourne, Australia. Interviews were of one hour duration and online via video call. Data were transcribed and qualitative content thematically analysed. Results: Eighteen participants met the eligibility criteria and participated in interviews. Twelve parents of children aged 1-14 years and six adults aged 26-50 years participated in interviews. Diagnoses were: achondroplasia 56%, hypochondroplasia 28%, spondyloepiphyseal dysplasia, cartilage hair hypoplasia, and spondylocostal dysplasia all 6%. Seven major themes emerged from the data: early life feeding and development, nutrition and physical movement in older children and adults, assessment of growth and anthropometry, health information and support, weight management, and mental health and wellbeing. Several sub-themes emerged including breastfeeding challenges, navigating food portions, practical challenges when preparing and accessing food, language around healthy eating and weight, inappropriate assessment of growth and anthropometry, and lack of options for recreational fitness in adulthood. There was consensus that more information tailored for people with skeletal dysplasia on nutrition and physical movement is needed. Conclusion: A variety of nutrition, weight, and physical activity-related challenges spanning the life course were identified amongst people with skeletal dysplasia, yet there is little information and resources to support families. This study informs co-designed research in this area and nutrition and physical movement resources for people with skeletal dysplasia.