Well-being of mothers with epilepsy with school-aged children

Purpose: The purpose of the study was to examine different aspects of well-being in mothers with epilepsy with school-aged children.Methods: In an observational study, mothers, identified from the European Registry of Antiepileptic Drugs and Pregnancy database in the Netherlands, completed questions on epilepsy, the impact of epilepsy on daily functioning, quality of life, behavioral problems, and parenting stress. Descriptive analyses were performed to examine the prevalence of behavioral problems and the impact of epilepsy on different aspects of the mother's daily functioning and family life. We subsequently investigated which factors contributed most to the impact of maternal epilepsy using regression analyses.Results: One hundred fifty-six (46%) of the 342 invited mothers with epilepsy participated. The majority (89%) had low epilepsy severity, with well-controlled seizures. Internalizing problems within the borderline or clinical range were reported by 23% of the mothers. Behavioral problems were significantly correlated with epilepsy severity (r = 0.26, p = .002), impact of epilepsy on daily functioning (r = 0.32, p < .001), and quality of life (r = -0.52, p < 01). Quality of life was in general good (mean = 8, standard deviation [SD] = 1), with low impact of epilepsy. Epilepsy affected mostly maternal self-confidence, work, and general health. Mothers indicated to experience no to little impact of epilepsy on the relationship with their children, partner, or family. Regression analyses showed that epilepsy severity (1.0, 95% confidence interval [CI]: 0.4 to 1.6; p = .002) and quality of life (-1.3, CI: -2.3 to -0.4; p = .007) were significant contributors to the impact of epilepsy on daily functioning, while other factors (maternal education, family type, behavioral problems, and parenting stress) were nonsignificant.Discussion: The current study shows that mothers with epilepsy generally fared well. Epilepsy negatively impacted the lives of some mothers, though. As maternal well-being is of importance for mother-child interaction and child development, clinicians should be aware of the impact of epilepsy on maternal psychosocial outcomes and family life of women with epilepsy

Genetic risk estimation by healthcare professionals

OBJECTIVES: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington's disease. DESIGN AND SETTING: Survey of clinical geneticists and genetic counsellors from 12 centres of clinical genetics (United Kingdom, 6; The Netherlands, 4; Italy, 1; Australia, 1) in May-June 2002. Participants were asked to assess risk of specific individuals in 10 pedigrees, three of which required use of Bayes' theorem. PARTICIPANTS: 71 clinical geneticists and 41 other healthcare professionals involved in genetic counselling. MAIN OUTCOME MEASURES: Proportion of respondents correctly assessing risk in the three target pedigrees; proportion of respondents who were confident of their estimate. RESULTS: 50%-64% of respondents (for the three targets separately) did not include the favourable test information and inc

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy

Background De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. Methods Array comparative genome hybridization was used to identify chromosomal abnormalities. Next Generation Sequencing was used to screen for variants in known and candidate epilepsy genes. A single nucleotide polymorphism array was used to test whether the SCN8A variants were in cis or in trans. Results We identified a de novo mosaic deletion of exons 2–14 of SCN8A, and a rare maternally inherited missense variant on the other allele in a woman presenting with absence seizures, challenging behavior, intellectual disability and QRS-fragmentation on the ECG. We also found a variant in SCN5A. Conclusions The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other possible mechanisms for SCN8A mutations may cause epilepsy; loss of function, genetic modifiers and cellular interference may play a role. This case expands the phenotype associated with SCN8A mutations, with absence epilepsy and regression in language and memory skills

Symptomatology of carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy

OBJECTIVE: To ascertain whether adverse effects experienced by people taking carbamazepine or oxcarbazepine could be attributed to carbamazepine- or oxcarbazepine-induced hyponatremia (COIH). METHODS: We performed an observational study, collecting data between 2017 and 2019 on serum sodium levels and adverse effects retrospectively in people with epilepsy while receiving treatment with either carbamazepine (CBZ) or oxcarbazepine (OXC). We defined hyponatremia as sodium level ≤134 mEq/L and severe hyponatremia as sodium level ≤128 mEq/L. Adverse effects experienced were compared between groups of individuals with and without hyponatremia. RESULTS: A total of 1370 people using CBZ or OXC were identified, of whom 410 had at least one episode of hyponatremia. We checked for symptoms related to the use of CBZ and OXC in 710 people (410 with and 300 without hyponatremia) and found relevant information in 688. Adverse effects occurred in 65% of people with hyponatremia compared to 21% with normal sodium levels (odds ratio [OR] 7.5, P ≤ .001) and in 83% of people with severe hyponatremia compared to 55% in those with mild hyponatremia (P ≤ .001). Significant predictors of adverse effects were the drug (OXC vs CBZ), and the number of concomitant anti-seizure medications. Dizziness (28% vs 6%), tiredness (22% vs 7%), instability (19% vs 3%), and diplopia (16% vs 4%) were reported more often in the hyponatremia group than in patients with normal levels. SIGNIFICANCE: People with COIH had a 7-fold increased risk of developing adverse effects during treatment. Clinicians should consider ascertainment of sodium levels in patients taking CBZ and OXC and act upon findings