Caring for Children with Turner Syndrome: A Supportive Needs Assessment

Background Caregivers have a critical role in the rare disease community. However, little is known about caregiver supportive care needs (SCNs) within these communities. The purpose of this study is to assess the SCNs of Turner syndrome (TS) caregivers (parents and guardians) and identify features of a TS diagnosis that impact caregiver needs. Methods In partnership with the Turner Syndrome Society of the United States, an online survey was distributed to TS caregivers, which asked them to quantify their SCNs using the Parental Needs Scale for Rare Diseases. Caregivers also provided information about the diagnosis of their child’s TS and the status of their concerns about common TS features. Results TS caregivers (n = 97) reported some level of unmet SCNs across five domains: understanding the condition, working with health professionals, emotional issues, financial needs, and working with educators. Most commonly, caregivers reported financial needs (42%, n = 41). One in three caregivers were dissatisfied with knowledge of TS among health professionals. Caregivers of children with reported mosaic TS were more likely to need help explaining the diagnosis to their relatives (p = 0.04). Conclusions TS caregivers have unmet SCNs based primarily related to the cost of and access to care and satisfaction with provider knowledge of TS. Medical institutions and advocacy groups should provide TS caregivers with resources for financial support and there should be efforts to improve provider knowledge of established clinical practice guidelines for TS care.