Abstract
Maltseva M, Rosenow F, Schubert-Bas S, Flege S, Wolff M, von Spiczak S, Trollmann R, Syrbe S, Ruf S, Polster T, Neubauer BA, Mayer T, Jacobs J, Kurlemann G, Kluger G, Klotz KA, Kieslich M, Kay L, Hornemann F, Bettendorf U, Bertsche A, Bast T, Strzelczyk A. Epilepsia. 2024;65(1):115-126. doi:10.1111/epi.17799. PMID: 37846648
The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) and caregivers’ knowledge about sudden unexpected death in epilepsy (SUDEP). This multicenter, cross-sectional study of patients with DS and their caregivers in Germany consisted of a questionnaire and prospective diary querying the disease characteristics and demographic data of patients and caregivers. Our analysis included 108 questionnaires and 82 diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 (SD ± 10.0 years) and primary caregivers were 92.6% (n = 100) female, with a mean age of 44.7 (SD ± 10.6 years). Monitoring devices were used regularly by 75.9% (n = 82) of caregivers, and most monitored daily/nightly. Frequently used devices were pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), and Epi-Care (26.8%). Younger caregiver and patient age and history of status epilepticus were associated with increased use of monitoring, and 81% of monitor users reported having avoided a critical incident with nocturnal monitoring. The need for resuscitation due to cardiac or respiratory arrest was reported by 22 caregivers (20.4%), and most cases (72.7%) were associated with a seizure. Caregivers reported frequently performing interventions at night, including oropharyngeal suction, oxygenation, personal hygiene, and change of body position. Most caregivers were well informed about SUDEP (n = 102; 94%) and monitored for a lateral or supine body position; however, only 39.8% reported receiving resuscitation training, whereas 52.8% (n = 57) knew what to do in case the child’s breathing or heart activity failed. Critical incidents and the need for resuscitation are reported frequently by caregivers and may be related to high mortality and SUDEP rates in DS. Resuscitation training is welcomed by caregivers and should be continuously provided. Oxygen monitoring devices are frequently used and considered useful by caregivers.Objective:
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Commentary
Dravet syndrome (DS) is one of the most severe developmental and epileptic encephalopathies, mostly caused by SCN1A haploinsufficiency. Dravet syndrome is associated with intractable seizures, along with cognitive and motor dysfunction. It is also one of the conditions with the highest incidence of sudden unexpected death in epilepsy (SUDEP). 1 -4 The exact mechanism of SUDEP is not yet clear, but it is suggested to be related to post-ictal apnea and bradycardia, evolving to terminal asystole. 5
Generalized tonic–clonic seizures (GTCs), especially during sleep, are a risk factor for SUDEP. 6 Seizure control is the most important measure to prevent SUDEP. Patients having 3 or more GTCs a year have a 15-fold increased risk of SUDEP compared to those with epilepsy having no GTCs. 7 Unfortunately, despite the best possible treatments, most patients with DS have more than 3 GTCs per year, and as they get old, most seizures tend to happen during sleep. 8 As such, caregivers to DS patients are especially concerned about SUDEP.
In the study by Maltseva and colleagues, 9 caregivers to patients with DS were assessed regarding their views and attitudes about SUDEP. More specifically, the authors queried about the use of monitoring devices and sleeping habits, and occurrence of critical incidents and interventions, including cardiopulmonary resuscitation. In order to do that, they recruited caregivers to patients with DS throughout Germany and used questionnaires and prospective diaries. Critical incidents were defined as “a deterioration in the patient’s condition that needed acute care, according to the caregiver, including stimulation by pain, artificial respiration, oxygen supply, or chest compressions.” They recruited 108 patients with DS, with a mean age of 13.5 years (SD: 10.0 years, median: 10.8 years). Nocturnal seizures were reported in 71.4% of patients, with a mean frequency of 8.9 per month. Patients were receiving a mean of 3.2 anti-seizure drugs.
In this cohort, 94% of caregivers were knowledgeable about SUDEP, but unfortunately, over half of them obtained their knowledge “through the internet” and not from a physician involved in their child’s care. Most of them said they would have preferred to be informed by a doctor, and at the time of diagnosis. Only 40% of caregivers had been trained in resuscitation and 53% said they were unsure of what to do in case the child’s breathing or heart activity failed.
Overall, monitoring devices were used by 75.9% of caregivers. These included: pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), Epi-Care (mattress or wrist bound convulsive seizure detection device) in 26.8%, camera systems (11%), epilepsy service dogs (2.4%), and seizure monitoring watches (1.2%). The study found that one-third (n = 36) of patients slept in the same room as their parents, and 24 of these, in the same bed. Among those caregivers who used monitoring devices, 87.8% monitored daily/nightly, 3.7% monitored several times a week, 3.7% monitored at least once a month, and 4.9% monitored less than once a month.
False alarms can be a problem for caregivers. In this study, false alarms were associated with caregivers’ brief frightening, sleep deprivation, and anxiety in 63%, 50%, and 32%, respectively. The authors asked how caregivers defined “false alarms.” Interestingly, only 25% of caregivers said that a false alarm was an alarm that did not indicate a seizure; 62% of caregivers defined false alarms as technical problems or incorrect sensor derivation and 25% defined false alarm as exceeding threshold values due to various non-seizure causes.
Although seizure frequency alone was not associated with the use of monitoring devices, younger patients’ age as well as the lifetime history of status epilepticus were associated with increased use of monitoring devices. Caregivers spent €174 (median: 50; SD: 541, range: 0-3500) on monitoring devices annually and only 5 cases received partial reimbursement from their health insurance.
Regarding critical incidents, 81% of caregivers who monitor patients have previously averted a critical incident by nocturnal monitoring. This was done through painful stimulation in 26%, oxygen supply in 23%, artificial respiration in 13%, stimulation in 11%, chest tapping in 11%, chest compressions in 4%, and other interventions in 18%. Pulse oximeters, baby monitors, and personal monitoring were the top methods of detection of critical incidents. Overall, an impressive 20% of caregivers reported that their child had to be resuscitated due to cardiac or respiratory arrest. Resuscitation was performed by a health care professional (nurse or doctor) in 16 out of the 22 times it was needed. Those critical events were associated with seizures, infections, or as a consequence of rescue medication (clonazepam and midazolam).
Some of the strengths of this study include the careful probing of how monitoring parameters were set, by patients’ age, and health state (during periods of systemic infection or during periods of general normal health). Authors also investigated who taught parents about how to set up monitoring parameters. Importantly, this study highlights that the monitoring devices, more likely to have helped in detecting critical events, were not designed for seizure detection. Seizure detection devices are not designed to detect apnea which may be a marker or predictor of SUDEP. Another very strong and important conclusion is that even though most parents are aware of the risk of SUDEP and even actively monitor their children, only 40% of them were trained in resuscitation.
One of the limitations of this study is a possible recruitment bias. Caregivers were recruited via Dravet associations, likely representing parents who are more concerned with SUDEP and have more interest in participation than other parents.
In conclusion, the study by Maltseva and colleagues carefully and critically evaluates the views and attitudes of caregivers to patients with DS regarding SUDEP. They show that the most commonly used monitoring devices to prevent SUDEP (baby monitors and pulse oximeters) were not those designed to detect seizures. Participants were willing to pay to have better SUDEP prevention devices. This study also showed that the information most caregivers have on SUDEP was not received by the treating physician, but instead was acquired “through the internet” and family support groups. Finally, a very concerning finding is that only 40% of caregivers had some training in resuscitation, even though many more were actively worried and monitoring their children to avoid SUDEP.
Over the years, we have learned a great deal about the pathophysiology of SUDEP. Although more knowledge is still needed on the mechanisms of SUDEP, this study showed that the medical and scientific communities have to up their game and help caregivers in their own efforts to avoid this tragic outcome. From talking to caregivers about SUDEP, helping them decide which monitoring device is best, helping them setting up monitoring parameters, to teaching them what to do in near-SUDEP situations, this study showed that we still have a lot to do.
