The effects of spinal dysraphism on the quality of life of pediatric patients and their families

Spinal dysraphism describes a spectrum of conditions resulting from aberrant neural tube closure during the first trimester of fetal development. Consequent neurological deficits may lead to a range of musculoskeletal abnormalities requiring orthopedic intervention. This study sought to evaluate the impact of spinal dysraphism on patients and their families. Free text questionnaires/interviews were collected from parents. Quantitative questionnaires were collected from children using an emoji response system. These assessed contentment in activities of daily living. Qualitative data were analyzed via thematic analysis. Descriptive statistics were applied to quantitative data. In total 32 responses (13 patients and 19 carers) were collected and analyzed. The median age of patients was 10 years (IQR = 3), with a sex distribution of 7 boys and 6 girls. Overall, 3 key themes were identified: (i) Independence, (ii) Mental Health, (iii) Family Impact, each with corresponding subthemes. Quantitative data corroborated these themes well, highlighting impacts on activities of daily living in the majority of domains assessed. Spinal dysraphism has a multifactorial impact on patient and family quality of life spanning the societal, mental, and physical domains. These findings will be included in ongoing work to create a set of core outcomes for use in the clinical and research settings.