Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient/caregiver reported co-produced questionnaire

Abstract

PurposeKBG syndrome (KBGS) is a rare neurodevelopmental syndrome. We aimed to study the impact of KBGS in adulthood as reported by individuals with KBGS and their families/caregivers, thereby exploring aspects of everyday life under-reported by healthcare professionals.MethodsWe co-produced an online questionnaire for adults with KBGS and their families/caregivers. Participants were recruited via the KBG foundation, an American-based charity supporting individuals with KBGS and their families worldwide, and other international collaborators.ResultsThere were 91 responses for analysis, across the age range of 16-86 years. Respondents described a range of living arrangements, education, employment, leisure activities and relationships. A higher proportion of 45-54year olds had achieved independent living skills such as driving and grocery shopping compared to the younger age groups. None of the participants who were experiencing seizures lived independently. We described high rates of psychiatric comorbidities, behavioural difficulties, sleep problems, seizures, visual and hearing problems, dental and skeletal issues, and a higher than expected cardiovascular and gastrointestinal burden of disease.ConclusionThis study provides new insights into the everyday life of adults with KBGS, along with high rates of comorbidities which continue to impact on quality of life into adulthood, with implications for medical care.