Caregiver Perspectives on MECP2 Duplication Syndrome: Experiences With Symptoms, Diagnosis, and Treatment

A 95-item survey was developed to capture perceptions of caregivers of people with MECP2 duplication syndrome (MDS) regarding caregiver-reported symptoms, the diagnostic pathway, impacts on quality of life (QoL), treatment, and therapy goals. Participants were self-reported adult caregivers of individuals with MDS identified through global MDS patient registries. Fifty-seven caregivers completed the survey from May 4 to 13, 2022. Among caregiver-reported symptoms, speech and motor delays were the most common, seizures the most concerning, and poor language skills the most detrimental to QoL. Caregivers reported challenges obtaining genetic testing or counseling (42%) and felt sadness, anxiety, and depression on receiving diagnoses. MDS symptoms were managed with multiple antiseizure medications (68%), antibiotics/antivirals for those with respiratory infections (69%), and over-the-counter supplements or stool softeners (57%). Caregivers were most interested in a new therapy to improve independent walking. Additional resources and disease-modifying treatments are needed to support individuals with MDS and their caregivers.