Burden of Illness in Rett Syndrome: Initial Evaluation of a Disorder-Specific Caregiver Survey

Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to affected individual and caregiver quality of life. However, instruments applied to quantify disease burden have not adequately captured the effect of symptoms on affected individuals and their families. Consequently, a collaboration of stakeholders in the USA, Europe, and Australia aimed to evaluate the Burden of Illness in RTT. Methods Based on literature reviews and qualitative interviews with parents of children and adults with RTT, caregiver and healthcare provider questionnaires were constructed to evaluate 21 problems often experienced with RTT (functional impairments, clinical manifestations, etc.), rated mainly with a 5-level Likert scale. These questionnaires were administered anonymously online to a sample of 756 caregivers (predominantly parents, classic RTT) and 112 clinicians. Descriptive statistics and chi-square tests were used in this initial analysis to identify (1) problems of high impact on affected individuals and caregivers, (2) the level of agreement between impact on individual and caregiver, and (3) the relationship between problem severity and impact. Results The most impactful problems were those related to the core features of RTT, namely communication and fine and gross motor impairments, irrespective of severity. Impairments tended to affect caregivers more than were perceived to affect individuals with RTT. In terms of severity, many problems have a disproportionate greater impact on affected individuals and their caregivers. Conclusions Our data demonstrate that even mild severity functional impairments and clinical manifestations can place a disproportionate burden on affected individuals and, particularly, their caregivers. Future analyses will examine the role of factors such as child age, MECP2 mutation, RTT clinical type and healthcare services in these burden of illness profiles.