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

 In this talk, Walter Kaufmann will present an overview of the Burden of Illness in Rett Syndrome survey. Previous studies have shown that individuals with Rett syndrome and their caregivers experience multiple challenges affecting their quality of life. So far, disease burden evaluations have not adequately considered the unique symptoms of Rett syndrome.  

To address this gap, a collaborative project involving advocacy groups, clinicians, drug industry and others in the USA, Europe, and Australia evaluated the impact of 21 frequent clinical manifestations of Rett syndrome. Caregiver and clinician questionnaires were developed and administered anonymously online to 756 caregivers (predominantly parents) and 112 clinicians. Initial analyses aimed at identifying (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.  

The survey found that the most impactful problems were those related to the core features of Rett syndrome, namely communication and fine and gross motor impairments, irrespective of severity. Impairments tended to affect caregivers more than were perceived to affect individuals with Rett. In terms of severity, many problems have a disproportionately greater impact on affected individuals and their caregivers. 

The data demonstrate that even mild severity functional impairments and clinical manifestations can place a disproportionate burden on individuals with Rett syndrome and their caregivers. Future analyses will examine the role of other factors on burden of illness.