Abstracts

Basic research about Dravet Syndrome proves that this severe epilepsy is related to an SCN1A gene mutation; however, the effect of this syndrome on families has not been studied. We investigated how parents cope with and care for a child with Dravet syndrome, a catastrophic epilepsy with three distinct stages. Stage 1 begins in the first year of life with repeated episodes of febrile status epilepticus. Stage 2 starts in the second year with uncontrollable seizures of multiple types, behaviour problems, and developmental stagnation or regression. Stage 3 begins in adolescence with fewer seizures and developmental stability. Mortality is 10-15%., Participants were North American parents of children with Dravet syndrome: 24 parents participated in semi-structured interviews and 17 completed [ldquo]Impact of Childhood Neurologic Disability[rdquo] (ICND) scales [ndash] a validated questionnaire assessing the impact of epilepsy on families in 4 domains: epilepsy, cognition, behaviour, and physical/neurological function. Children included 11 males and 13 females aged 2-24 years (mean = 10.2 y, SD = 5.7)., [italic]Stage 1[/italic]: Stage 1 was the most difficult stage for parents (p=0.03). Uncertainty about the diagnosis was the primary stressor. Seizure control was rated as worst during this time. Most parents (54%) recalled no positive experiences in caring for their child, and many negative interactions with health care.
[italic]Stage 2[/italic]: Seizure control was reported as slightly better in Stage 2 but remained the primary stressor (p[lt]0.001). Developmental stagnation and severe hyperactivity emerged. Impressive negative effects were noted on parents[apos] relationships with family (38%), friends (63%), and spouse (54%). Parents tended to report more external coping mechanisms, such as support groups, friends, and family.
[italic]Stage 3[/italic]: Stage 3 brought improved seizure control (p[lt]0.001) but decreased cognitive level and worsening behavioral problems (p[lt]0.03). Parents reported increased social isolation and tended to rely on internal coping mechanisms, such as religious prayer, activities outside the home, and personal education about Dravet syndrome.
Respite and relief care were extremely difficult to obtain at each stage. ICND scores at each stage mirrored the findings of the interviews., All three stages of Dravet syndrome present specific serious challenges for parents, based on interviews and a concurrent validated questionnaire (ICND). Seizures are persistent and severe but developmental, behavioral, and sleep issues add to the stress. In the absence of truly successful medical treatment, attention needs to shift toward helping families cope. Specific emergency protocols, assistance in locating respite care, and psychological or social work intervention for families may help., (Supported by summer student bursaries from Epilepsy Canada and Dalhousie University.)