Coping With a Child With Dravet Syndrome: Insights From Families

Nolan, Kathleen; Camfield, Carol; Camfield, Peter

doi:10.1177/0883073808314162

Cited by 44 publications

(64 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with DS have impaired sleep quality (Dravet et al, 2005; Nolan et al, 2008; Nolan et al, 2006). To investigate whether DS mice have impaired sleep quality, we carried out combined video, electroencephalographic (EEG), and electromyographic (EMG) recordings from 7 WT and 6 DS mice for 8 h during the light period, the predominant sleep phase for mice (Fig.…”

Section: Resultsmentioning

confidence: 99%

Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome

Kalume

Oakley

Westenbroek

et al. 2015

Neurobiology of Disease

105

View full text Add to dashboard Cite

Dravet Syndrome (DS) is caused by heterozygous loss-of-function mutations in voltage-gated sodium channel NaV1.1. Our genetic mouse model of DS recapitulates its severe seizures and premature death. Sleep disturbance is common in DS, but its mechanism is unknown. Electroencephalographic studies revealed abnormal sleep in DS mice, including reduced delta wave power, reduced sleep spindles, increased brief wakes, and numerous interictal spikes in Non-Rapid-Eye-Movement sleep. Theta power was reduced in Rapid-Eye-Movement sleep. Mice with NaV1.1 deleted specifically in forebrain interneurons exhibited similar sleep pathology to DS mice, but without changes in circadian rhythm. Sleep architecture depends on oscillatory activity in the thalamocortical network generated by excitatory neurons in the ventrobasal nucleus (VBN) of the thalamus and inhibitory GABAergic neurons in the reticular nucleus of the thalamus (RNT). Whole-cell NaV current was reduced in GABAergic RNT neurons but not in VBN neurons. Rebound firing of action potentials following hyperpolarization, the signature firing pattern of RNT neurons during sleep, was also reduced. These results demonstrate imbalance of excitatory vs. inhibitory neurons in this circuit. As predicted from this functional impairment, we found substantial deficit in homeostatic rebound of slow wave activity following sleep deprivation. Although sleep disorders in epilepsies have been attributed to anti-epileptic drugs, our results show that sleep disorder in DS mice arises from loss of NaV1.1 channels in forebrain GABAergic interneurons without drug treatment. Impairment of NaV currents and excitability of GABAergic RNT neurons are correlated with impaired sleep quality and homeostasis in these mice.

show abstract

Section: Resultsmentioning

confidence: 99%

Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome

Kalume

Oakley

Westenbroek

et al. 2015

Neurobiology of Disease

105

View full text Add to dashboard Cite

show abstract

“…Two subsequent papers describing additional findings from these interviews focused on suggestions that emerged from the interviews which could help families better cope with caregiver burden [14,16]. However, they also provided additional findings from these interviews about the impact of caregiving not reported in the original paper.…”

Section: Humanistic Burden Of Caregiving For Children With Dravet Synmentioning

confidence: 95%

“…The titles of all English language articles were reviewed, and any that had a title suggesting that the article might present information regarding the burden or cost of caregiving for a child with DS were read by one of the authors (MPJ). Of these, six were identified which presented data regarding these burdens, five of which presented information regarding the humanistic burden on caregivers [8,[14][15][16][17], and one of which presented data regarding the financial burden of DS [12]. Three of these papers presented findings from three different perspectives using data from a single study [14][15][16].…”

Section: Search Strategymentioning

confidence: 96%

“…However, they also provided additional findings from these interviews about the impact of caregiving not reported in the original paper. The first of these mentioned social isolation from family, friends, and spouses as a source of significant distress, due primarily to the increasing amount of time it took to care for their child [16]. Stress associated with the costs of care were mentioned in the second additional report [14].…”

Section: Humanistic Burden Of Caregiving For Children With Dravet Synmentioning

confidence: 97%

“…The five papers reporting on the humanistic burden of DS included one that used both a quantitative (administration of a validated measure of the impact of epilepsy) and qualitative (semi-structured interviews) approach, the findings of which were presented in three articles [14][15][16], one open-ended paper-and-paper questionnaire study [17], and one survey study [8]. The quantitative/qualitative study recruited a convenience sample of 28 parents of 24 children with DS.…”

Section: Humanistic Burden Of Caregiving For Children With Dravet Synmentioning

confidence: 99%

See 2 more Smart Citations

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

Jensen

Brunklaus

Dorris

et al. 2017

Epilepsy & Behavior

View full text Add to dashboard Cite

We reviewed the current literature with respect to the humanistic and financial burdens of Dravet Syndrome (DS) on the caregivers of children with DS, in order to (1) identify key unanswered questions or gaps in knowledge that need to be addressed and then, based on these knowledge gaps, (2) propose a research agenda for the scientific community to address in the coming decade. The findings support the conclusion that caring for a child with DS is associated with significant humanistic burden and direct costs. However, due in part to the paucity of studies, as well as the lack of measures of specific burden domains, there remains much that is not known regarding the burden of caregiving for children with DS. To address the significant knowledge gaps in this area, research is needed that will: (1) identify the specific domains of caregivers' lives that are impacted by caring for a child with DS; (2) identify or, if needed, develop measures of caregiving impact in this area; (3) identify the factors that influence DS caregiving burden; (4) develop and evaluate the efficacy of treatments for reducing the negative impact of DS and its comorbidities on DS caregivers; (5) quantify the direct medical costs associated with DS and DS comorbidities and identify the factors that influence these costs; and (6) quantify and fully explore the indirect costs of DS. Research that addresses these goals will provide the empirical foundation needed for improving the quality of life of children with DS and their families.

show abstract

Dravet syndrome: A systematic literature review of the illness burden

Strzelczyk,

Lagae,

Wilmshurst

et al. 2023

Epilepsia Open

View full text Add to dashboard Cite

ObjectiveWe performed a systematic literature review and narrative synthesis according to a pre‐registered protocol (Prospero: CRD42022376561) to identify the evidence associated with the burden of illness in Dravet syndrome (DS), a developmental and epileptic encephalopathy characterised by drug‐resistant epilepsy with neurocognitive and neurobehavioural impairment.MethodsWe searched MEDLINE, Embase and APA PsychInfo, Cochrane's database of systematic reviews, and Epistemonikos from inception to June 2022. Non‐interventional studies reporting on epidemiology (incidence, prevalence and mortality), patient and caregiver health‐related quality of life (HRQoL), direct and indirect costs and healthcare resource utilisation were eligible. Two reviewers independently carried out the screening. Pre‐specified data were extracted and a narrative synthesis was conducted.ResultsOverall, 49 studies met the inclusion criteria. The incidence varied from 1:15,400–1:40,900, and the prevalence varied from 1.5 per 100,000 to 6.5 per 100,000. Mortality was reported in 3.7–20.8% of DS patients, most commonly due to sudden unexpected death in epilepsy and status epilepticus. Patient HRQoL, assessed by caregivers, was lower than in non‐DS epilepsy patients; mean scores (0 [worst] to 100/1 [best]) were 62.1 for the Kiddy KINDL/ Kid‐KINDL, 46.5–54.7 for the PedsQL and 0.42 for the EQ‐5D‐5L. Caregivers, especially mothers, were severely affected, with impacts on their time, energy, sleep, career, and finances, while siblings were also affected. Symptoms of depression were reported in 47% to 70% of caregivers. Mean total direct costs were high across all studies, ranging from $11,048 to $77,914 per patient per year (PPPY), with inpatient admissions being a key cost driver across most studies. Mean costs related to lost productivity were only reported in three publications, ranging from approximately $19,000 to $20,000 PPPY ($17,596 for mothers versus $1,564 for fathers). High seizure burden was associated with higher resource utilisation, costs and poorer HRQoL.SignificanceThe burden of DS on patients, caregivers, the healthcare system and society is profound, reflecting the severe nature of the syndrome. Future studies will be able to assess the impact that newly approved therapies have on reducing the burden of DS.

show abstract

Coping With a Child With Dravet Syndrome: Insights From Families

Cited by 44 publications

References 4 publications

Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome

Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome

The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research

Dravet syndrome: A systematic literature review of the illness burden

Contact Info

Product

Resources

About