A survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment

Provide the perspective of caregivers planning for adulthood in people with developmental and epileptic encephalopathies (DEEs). Family members (N = 134) of people with DEE (1-44 years old) responded to an anonymous, internet-based survey to assess the needs of DEE families. Respondents included parents/guardians (n = 121, 90.3 %) and adult siblings ≥18y (n = 13, 9.7 %). Diagnoses included Dravet syndrome (n = 71), Lennox-Gastaut syndrome (n = 38), PCDH19-related epilepsy syndrome (n = 8), CDKL5 deficiency disorder (n = 5), SYNGAP1-related DEE (n = 5), STXBP1-related DEE (n = 3), Dup15q syndrome (n = 2), infantile spasms and NPRL2 seizure disorder (dual diagnosis, n = 1), and Fragile X syndrome (n = 1). Constant safety monitoring was required for many people with DEE (82.1 %). Between 81.3 % and 92.5 % of people with DEE experienced developmental delays, intellectual disability, delayed language and speech issues, and movement and/or balance issues. Overall, 29 (21.6 %) respondents reported having adequate access to long-term adult care planning information. Medical, legal, and financial planning was completed by 22 (18.2 %) to 46 (38.0 %) parent/guardian respondents. Most adult siblings (12/13, 92.3 %) planned to receive responsibility for future care of their sibling with DEE. Respondents accessed relevant information via disease-specific patient organizations (81.3 %), other patients and/or caregivers (67.9 %), social media (53.7 %), primary care physicians (40.3 %), nurses (14.2 %), and neurologists (1.5 %). Respondents indicated concern as the people with DEE transition into adulthood. Caregivers of adults with DEE are often family members, including adult siblings. Caregivers/families may benefit from receiving additional support to facilitate future planning of transition to adult care. The healthcare system may require changes to facilitate successful medical transition.