Authors :
Presenting Author: Annette Cremean, DO – Pediatric Epilepsy Section, Epilepsy Center at the Cleveland Clinic Neurological Institute, Cleveland, OH, USA
Maksim Parfyonov, MD – Pediatric Epilepsy Section, Epilepsy Center at the Cleveland Clinic Neurological Institute, Cleveland, OH, USA
Xiaoming Zhang, PhD – Pediatric Epilepsy Section, Epilepsy Center at the Cleveland Clinic Neurological Institute, Cleveland, OH, USA
Christine Traul, MD – Cleveland Clinic Pediatric Institute, Cleveland, OH, USA
Marielle Kulling, DO – Cleveland Clinic Pediatric Institute, Cleveland, OH, USA
Elia Pestana Knight, MD – Cleveland Clinic
Rationale:
To identify the prevalence of sudden unexpected death in epilepsy (SUDEP) and other causes of mortality in children with developmental and epileptic encephalopathies (DEEs) at the Cleveland Clinic Foundation (CCF). People with epilepsy are at a higher risk of early death compared to the general population. In children with epilepsy, most deaths are due to non-epilepsy-related causes, such as complications of an underlying infection or neurodegenerative disease, or non-natural causes such as accidents and suicide. However the understanding of SUDEP, especially in children with DEEs, remains limited. Identifying these risk factors can help provide personalized advice to patients at risk and their families.Methods:
A retrospective chart review was conducted on pediatric epilepsy patients (≤18 years old) who were seen at CCF from January 2014 to January 2024, who have DEEs and are deceased. Data extraction was performed from the electronic medical record and the CCF EEG database. Data was collected in RedCap. Statistical analyses and data visualization were performed using R (R Foundation for Statistical Computing, Vienna, Austria).Results:
A total of 44 patients met inclusion criteria, with 35 non-SUDEP deaths and 9 SUDEP deaths. 9 cases (20%) were identified as SUDEP, categorized as: 1 case of Definite SUDEP, 7 cases of Probable SUDEP, and 1 case of Possible SUDEP.
The etiology of epilepsy of the non-SUDEP patients was genetic (7), metabolic (7), structural (5), infectious (2), and unknown (14), and 68% of these patients experienced daily seizures. The etiology of the SUDEP patients was genetic (5) in which 56% were due to a monogenic variant, structural (1), and unknown (3). Generalized epilepsy was notable in both groups (63% in non-SUDEP and 78% in SUDEP patients). The number of ASMs did not differ between groups.
Epilepsy was refractory in 71% of the non-SUDEP patients and 44% of the SUDEP patients. Systemic comorbidities of chronic lung disease with oxygen requirement (57%) and enteral feedings (94%) were prominent in the non-SUDEP patients, and enteral feedings (56%) in the SUDEP patients (Table 1).
Most non-SUDEP deaths were much more likely to occur at the hospital or hospice (p = 0.02), whereas SUDEP deaths occurred at home. SUDEP deaths also tended to occur later in life but this was not statistically significant. Other systemic causes of death (80%) were majority respiratory failure (Figure 1). 13 of the 19 patients that died from respiratory failure had an oxygen requirement. The mitochondrial etiologies of epilepsy (3) all died from infection.
Conclusions:
In this cohort, the non-SUDEP patients were overall sicker, had a higher seizure burden, and died from systemic complications at the hospital or hospice. Over half of the SUDEP patients had a monogenic genetic pathogenic variant. Overall, our data suggests that we should be discussing risk factors for early death in the appropriate context of the patient’s clinical condition.Funding: N/A