Presentation (CTI)

OBJECTIVES: Developmental Epileptic Encephalopathy (DEE) is a group of rare diseases with incidences down to 1:60000 children. It is often mistaken for epilepsy, which leads to delayed diagnosis and subsequent cognitive and developmental delay, and orthopaedic and movement disorders, with a higher chances to experience certain comorbidities. A recent carer survey has demonstrated that a simple tool is needed to determine severity of the disease in order to assign optimal treatment and whether there is a correlation between the severity of the patient and the quality-of-life of the carers. The objective of this study is to develop a severity index for DEE and assess its association with carers’ health-related quality of life.
METHODS: A latent severity indicator was developed using principal component analysis on a survey of 78 patients using five simple observations, namely: age of the patient, age at the first seizure, current seizure frequency, current treatments and number of previous treatments. Severity classification was determined using AIC/BIC models of fit. Quality-of-life was observed for carers using EQ-5D-5L.
RESULTS: Five principal components were identified with the first two components explaining 62% of the variance. Patients with a high probability of being categorised with severe disease were typically younger patients, with an early first seizure (before 1 year of age), current high seizure frequency (weekly or daily), having tried more than 7 previous antiseizure medications, and currently being treated with 4 or more medications. The mean EQ-5D-5L was 0.853 (≈Australian population norm for an average 30-year-old (female)) for carers of less severe patients, whereas carers of severe patients had a mean EQ-5D-5L of 0.788.
CONCLUSIONS: This study presents the first severity index for Developmental and Epileptic Encephalopathy and demonstrates that carers for children with severe disease rate their quality of life as poorly as someone who has coronary heart disease.