Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study

Abstract

Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, leading to reduced health‐related quality of life (HRQOL). Prospective outcome data on HRQOL are sparse, and this study investigated long‐term predictors of HRQOL in DS. Methods One hundred thirteen families of SCN1A‐positive patients with DS, who were recruited as part of our 2010 study were contacted at 10‐year follow‐up, of which 68 (60%) responded. The mortality was 5.8%. Detailed clinical and demographic information was available for each patient. HRQOL was evaluated with two epilepsy‐specific instruments, the Impact of Pediatric Epilepsy Scale (IPES) and the Epilepsy & Learning Disabilities Quality of Life Questionnaire (ELDQOL); a generic HRQOL instrument, the Pediatric Quality of Life Inventory (PedsQL); and a behavioral screening tool, the Strength and Difficulties Questionnaire (SDQ). Results Twenty‐eight patients were 10–15 years of age (0–5 years at baseline) and 40 were ≥16 years of age (≥6 years at baseline). Patients 0‐ to 5–years‐old at baseline showed a significant decline in mean scores on the PedsQL total score (p = .004), physical score (p < .001), cognitive score (p = .011), social score (p = .003), and eating score (p = .030) at follow‐up. On multivariate regression, lower baseline and follow‐up HRQOL for the whole cohort were associated with worse epilepsy severity and a high SDQ total score (R2 = 33% and 18%, respectively). In the younger patient group, younger age at first seizure and increased severity of epilepsy were associated with a lower baseline HRQOL (R2 = 35%). In the older age group, worse epilepsy severity (F = 6.40, p = .016, R2 = 14%) and the use of sodium‐channel blockers were independently associated with a lower HRQOL at 10‐year follow‐up (F = 4.13, p = .05, R2 = 8%). Significance This 10‐year, prospective follow‐up study highlights the significant HRQOL‐associated cognitive, social, and physical decline particularly affecting younger patients with DS. Sodium channel blocker use appears to negatively impact long‐term HRQOL, highlighting the importance of early diagnosis and disease‐specific management in DS.

Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome

“…One hundred thirteen individuals who exhibited a DS phenotype and who had a positive SCN1A mutation were posted questionnaires, of whom 68 (60%) responded. 21 The median age was seven years at baseline assessment (6 months to 42 years old, IQR = 4–15) and 17 (10 to 39 years old, IQR = 14–24) at follow-up. Sixty-two out of 141 (44%) were male in the initial study, compared to 36 out of 68 (53%) at follow-up ( P = 0.7).…”

“…The majority were attributed to Sudden Unexpected Death in Epilepsy (SUDEP, 4/7) and the remaining three cases were due to status epilepticus, acute respiratory distress syndrome and one unknown cause. 21 When asked whether SUDEP had been discussed with a medical professional, 24 of 68 carers (35%) indicated that this was not the case.…”

“…Comorbidities and predictors of health-related quality of life of this cohort have been reported elsewhere. 21 …”

Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany

“…SUDEP-related deaths represent 53%-61% of the reported deaths compared with 14.5% in patients with new-onset epilepsy. 11,17 A multi-institutional study involving 91 hospitals reported a mortality rate of 10.1%. 18 Critical incidents were reported by the caregiver in a high proportion of patients, and cardiac or respiratory arrest with the need for resuscitation was reported in more than 20% of patients, of which 72.7% were associated with a seizure (0-60 min postictal).…”

“…Annual mortality rates exceeding 5% are reported in patients with DS, which is much higher than in other types of epilepsy. SUDEP‐related deaths represent 53%–61% of the reported deaths compared with 14.5% in patients with new‐onset epilepsy 11,17 . A multi‐institutional study involving 91 hospitals reported a mortality rate of 10.1% 18 .…”