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- Bjurulf, Björn, 1962, et al.
(författare)
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Caregiver reported seizure precipitants and measures to prevent seizures in children with Dravet syndrome
- 2022
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Ingår i: Seizure. - : Elsevier BV. - 1059-1311. ; 103, s. 3-10
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim of this population-based, cross-sectional study was to describe caregiver-reported seizure precipitants, measures taken to prevent seizures and rescue therapies in children with Dravet Syndrome (DS). Methods: In a population-based study, caregivers of 42/48 Swedish children with DS born between 2000 and 2018 were interviewed. Frequency of precipitants, preventive measures, and rescue therapies were compared between children born 2000-2009 and 2010-2018 and between `severe acute accent and `less severe acute accent epilepsy.Results: All children had experienced precipitants. Preventive measures were employed in all. Seizures had been provoked by a median of seven (range 2-11) out of 13 factors. A median of eight (range 1-17) preventive measures out of 19 were reported. The most common precipitants were fever (n=42, 100%), and afebrile in-fections (n=39/42, 93%). Afebrile infections (p=0.014) and reduced ambient temperature (p=0.006) were more common precipitants in younger children, and bright light in children with severe epilepsy (p=0.013).The most common factors avoided were warm weather (n=35/42, 83%) and physical activity (n=27/42, 64%). It was more common to avoid strong emotions (p=0.035) and reduced temperature (p=0.002) in younger children, and to avoid infections (p=0.024) and crowds (p=0.046) in children with 'severe' epilepsy. Many children (n=28/42, 67%) or their siblings (n=16/34, 47% of individuals with siblings) had stayed home to avoid infections in school/day-care. Use of emergency medicines was more frequent in younger children (p=0.006) and in children with 'severe' epilepsy (p=0.007). Significance: Caregiver-reported seizure precipitants are common in DS. Caregivers employ a range of measures to avoid seizures, restricting family life.
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| 2. |
- Bjurulf, Björn, 1962, et al.
(författare)
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Dravet syndrome in children - A population-based study
- 2022
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 182
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim was to describe age at diagnosis, cumulative incidence, SCN1A variants, mortality, seizure types and treatments in children with Dravet Syndrome (DS) in Sweden. Methods: Children diagnosed with DS, born between January 1st 2000 and December 31st 2018 were included in a population-based study. Clinical data, frequency of seizure types and treatments were collected from caregivers and medical records in 42 children. Age at diagnosis, cumulative incidence and treatment were compared between children born in Sweden 2000–2009 and 2010–2018. Results: We identified 55 children with DS, 53 were born in Sweden. Three children had died of definite, probable, or possible sudden unexpected death in epilepsy, one of acute anoxic brain injury and three of pneumonia or pneumonitis. Median age at death was 4.7 (range 3.3–11) years. In 49/53 children with known SCN1A status, a pathogenic/likely pathogenic variant of SCN1A was detected. In two a SCN1A variant of unknown significance was found. For children born in Sweden 2010–2018, median age at DS diagnosis was lower (1.6 vs 4.5 years, p = 0.001) and cumulative incidence higher (1/33,000 vs 1/46,000 live-born children, p = 0.03), compared to children born in 2000–2009. The most common seizure types were focal to bilateral tonic clonic (n = 41/42) and myoclonic (n = 35/42). Tonic seizures were reported in 25/42 children. Sodium-channel inhibitors had been used in 9/24 children born in 2010–2018 and 17/18 children born in 2000–2009 (p = 0.001). Significance: A SCN1A variant that could explain the syndrome was found in over 90% of children. Tonic seizures seem to be more frequent than earlier described. Median age at diagnosis was lower, cumulative incidence higher and use of contra-indicated sodium-channel inhibitors less common for children born in 2010–2018 compared with children born in 2000–2009. This could indicate an increased awareness of DS.
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| 3. |
- Goselink, Rianne J. M., et al.
(författare)
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Transition to adult care in epilepsy: A systematic review
- 2022
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Ingår i: Seizure. - : Elsevier BV. - 1059-1311 .- 1532-2688. ; 101, s. 52-59
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Tidskriftsartikel (refereegranskat)abstract
- The transfer from paediatric to adult care can be a complex process in children with epilepsy. Inadequate care during this phase can affect long-term medical and psychosocial outcomes. The aim of this study was to review studies on transitional care from paediatric to adult healthcare for young persons with epilepsy in order to synthesize evidence for best practice. We undertook a systematic review following PRISMA guidelines and employed narrative synthesis. A total of 36 articles were included, of which 11 were interventional studies and 25 observational studies. Study quality was rated as 'good' for only four studies. Interventions included joint or multidisciplinary clinics, education (patient and health professional education) and extended service provision (Saturday clinics, peer-groups). All studies observed a positive effect experienced by the participants, regardless of intervention type. Observational studies showed that transition plans/programmes are asked for but frequently not existing or not adapted to subgroups with intellectual disability or other neurodevelopmental conditions. The results of this systematic review on transitional care in epilepsy suggest that a planned transition process likely enhances medical and psychosocial outcomes for young people with epilepsy, but the body of evidence is limited and there are significant gaps in knowledge of what efficacious transition constitutes. More studies are needed employing qualitative and quantitative methods to further explore the needs of young people with epilepsy and their families but also robust study designs to investigate the impact of interventions on medical and psychosocial outcomes.
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| 4. |
- Krantz, Mattias, et al.
(författare)
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Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience
- 2022
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Ingår i: Child: Care, Health and Development. - : Wiley. - 0305-1862 .- 1365-2214. ; 48:5, s. 842-851
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Tidskriftsartikel (refereegranskat)abstract
- Background: CLN3 disease is a neurodegenerative condition presenting in the first decade of life typically leading to death in the third decade. The earliest symptom is rapidly progressive visual impairment followed by intellectual and motor impairments, epilepsy and behavioural disturbances. There are limited data on how the condition affects the family system or the role of family resilience in paediatric neurodegenerative diseases. Methods: Semi-structured interviews were conducted with eight parents (five mothers and three fathers) of five children with CLN3. Interview questions focused on the experience of having a child with CLN3, its impact on the family system as well as the concept of family resilience. Data were analysed via thematic analysis. Results: The thematic analysis resulted in four main themes. The theme ‘recurring losses’ included the feeling of losing a healthy child, the child's loss of abilities and loss of relationships. The theme ‘disruption to the family system’ included that siblings could be ‘side-lined’, the potential negative impact on romantic relationships and difficulties finding time to oneself. The theme ‘Society is not developed for a progressive disease’ highlighted the difficulties parents faced with respect to contacts with the health and/or social insurance system. The paediatric health care system was seen as supportive, but the adult health care system was not seen as fit for the purpose. Regarding family resilience, parents felt that the disease forced them to reconsider what was important in life. Several parents described that they learned to value small moments of joy and create deep connections through involvement in family routines and rituals. Conclusions: CLN3 places a very significant burden on the family system including parental feelings of loss, impact on family relationships and lack of understanding within the health/social insurance systems. The concept of family resilience may be useful in understanding the experiences of families affected by paediatric neurodegenerative conditions.
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