Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy

Abstract

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured interview and 17 completed the Impact of Childhood Neurologic Disability Scale (ICND) questionnaire. Children included 11 males and 13 females aged 2 to 24 years (mean age 10y 2mo [SD 5y 8mo]). Stage 1 of the syndrome was generally very difficult. Uncertainty about the diagnosis was the primary cause of stress. Seizure control was worst during this time. The primary concern in Stage 2 remained seizure control but developmental, behavioral, and sleep issues also emerged. Negative effects were noted in parents' relationships with others. Stage 3 brought better seizure control but decreased cognitive level, increased behavioral problems, and increasing social isolation for parents. Respite and relief care were hard to obtain at each stage. ICND scores mirrored the findings of the interviews. The three stages of Dravet syndrome present serious challenges for parents. Seizures are persistent and severe but developmental, behavioral, and sleep issues add to the stress. In the absence of successful medical treatment for Dravet syndrome, further attention needs to be paid to helping families cope with the disorder.

Na V 1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms

“…Furthermore, a change from a circadian period shorter than 24 h to one longer than 24 h has dramatic effects on the phase angle of entrainment (21); thus, the longer circadian period of Scn1a +/− mice is predictive of the delay of several hours in their locomotor activity, which is clearly the case in Scn1a +/− mice. Children with SMEI have impaired sleep-wake cycles, including delayed sleep onset and difficulty maintaining sleep (39). The delayed phase of entrainment may, in part, explain delayed sleep onset in SMEI patients, because a delayed phase would push the time of sleep onset to a later time in the day.…”

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

“…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].…”

“…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.…”

“…During the interviews, the parent participants were asked to describe their experience for each of three stages of DS: (1) Stage 1, which begins in the first year of life, usually with the emergence of prolonged febrile status epilepticus; (2) Stage 2, which begins around one year of age with the emergence of other seizure types and often with subsequent behavioral problems; and (3) Stage 3, which begins when children reach early adolescence with seizure types often decreasing and some improvement in behavioral problems (for a subset of children). Specifically, the parents were asked to describe "…their child's illness, personal experiences, perceptions of their child's healthcare, and coping mechanisms or support, both effective and lacking" (p. 762 [15]). They were also asked to "…report spontaneously events or experiences that were particularly positive or negative in caring for their child" (p. 762 [15]).…”

Sleep, oxygen saturation, and seizures in Dravet syndrome

“…In a wide-ranging questionnaire study of Canadian families with a child affected by Dravet syndrome, 22 out of 24 parents reported sleep problems, including nocturnal seizures and difficulty initiating and maintaining sleep. 4 More than half the families tried herbal medicines to improve their child's sleep quality. Licheni et al have focused their attention on sleep in the syndrome and address how the nature of sleep problems will change over time.…”