Aim
The aim of this study was to examine whether vigabatrin treatment had caused visual field defects (VFDs) in children of school age who had received the drug in infancy.
Method
In total, 35 ...children (14 males, 21 females; median age 11y, SD 3.4y, range 8–23y) were examined by static Humphrey perimetry, Goldmann kinetic perimetry, or Octopus perimetry. The aetiologies of infantile spasms identified were tuberous sclerosis (n=10), other symptomatic causes (n=3), or cryptogenic (n=22).
Results
Typical vigabatrin‐attributed VFDs were found in 11 out of 32 (34%) children: in one out of 11 children (9%) who received vigabatrin for <1 year (group 1), in three out of 10 children (30%) who received vigabatrin for 12 to 24 months (group 2), and in seven out of 11 children (63%) who received vigabatrin treatment for longer than 2 years (group 3). VFDs were mild in five and severe in six children. Patients with tuberous sclerosis were at higher risk of VFDs (six out of 10 children). The mean cumulative doses of vigabatrin were 140.5, 758.8, and 2712g in group 1, 2, and 3, respectively.
Interpretation
VFDs were found in 34% of the cohort of children in this study. The rate of VFD increased from 9% to 63% as duration of treatment increased. The results of this study showed that the risk–benefit ratio should always be considered when using vigabatrin.
What this paper adds
This is the largest study known to report the results of visual field testing in children who received vigabatrin treatment for infantile spasms.
VFDs were found in 34% of the children in the study.
The risk of VFDs increased from 9% to 63% depending on the duration of vigabatrin administration.
This article is commented on by Chiron and Dulac on pages 9–10 of this issue.
Introduction. Epilepsy is a complex disease. The consequences of epilepsy are varied and manifested in all aspects of people with epilepsy’s (PWE) lives. The purpose of this study was to define ...individual experiences of epilepsy, expressed in narratives, and to find the stem of each narrative—a core event in the PWE’s experience of the disease around which they structure their overall narrative. Method. A qualitative, phenomenological research method was used. We conducted semistructured interviews with 22 PWE and analysed the content using a combination of inductive and deductive methods, based on which we determined the stem narratives. Results. The stem narrative of the epilepsy narrative is an important life experience of PWE. We divided the stem narratives into four groups: lifestyle changes, relationship changes, the consequences of the inciting incident, and the limitations of the disease. In our study, we found that the stem narrative was, in all but one case, a secondary (psychosocial) factor resulting from epilepsy, but not its symptom (epileptic seizure). The stem narrative, where aspects of life with epilepsy are exposed, points to a fundamental loss felt by PWE. Conclusion. The narrative of the experience of epilepsy has proven to be an important source of information about the disease and life of PWE and also about the aspects at the forefront of life with epilepsy. The secondary epilepsy factors that we identified in the stem narratives were the greatest burden for PWE in all cases but one.
To assess the correlation between hypsarrhythmia duration and mental outcome in infantile spasms (IS) the medical records of 48 infants with IS were reviewed retrospectively and psychological ...assessments undertaken at follow‐up at the age of 3 to 13 years. We found 18 (38%) cryptogenic IS cases with typical hypsarrhythmia and 30 symptomatic with modified hypsarrhythmia—further classified into 15 cases as multifocal, 10 as pseudoperiodic and 5 as unilateral hypsarrhythmia. A short treatment lag (one to two weeks) occurred in 25, three to four weeks in 10 cases. Spasms ceased within one month after treatment in 23 infants. At follow‐up 15 children had normal mental outcome (borderline included). A correlation between hypsarrhythmia duration longer than three weeks and lower mental outcome was found using the logistic regression model. The duration of hypsarrhythmia represents a sensitive prognostic parameter in IS; the risk of mental retardation increases after three weeks of hypsarrhythmia.
Recent progress in genetic analysis reveals that a significant proportion of cryptogenic epileptic encephalopathies are single-gene disorders. Mutations in numerous genes for early-onset epileptic ...encephalopathies have been rapidly identified, including in SPTAN1, which encodes α-II spectrin. The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven epileptic patients with four different in-frame SPTAN1 mutations have been identified. The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. Brainstem and cerebellar atrophy and cerebral hypomyelination, as observed by magnetic resonance imaging, are specific hallmarks of this condition. A milder variant is characterized by generalized epilepsy with pontocerebellar atrophy. Only in-frame SPTAN1 mutations in the last two spectrin repeats in the C-terminal region lead to dominant negative effects and these specific phenotypes. The last two spectrin repeats are required for α/β spectrin heterodimer associations and the mutations can alter heterodimer formation between the two spectrins. From these data we suggest that SPTAN1 encephalopathy is a distinct clinical syndrome owing to specific SPTAN1 mutations. It is important that this syndrome is recognized by pediatric neurologists to enable proper diagnostic work-up for patients.
In children requiring electroencephalography (EEG), sleep recording can provide crucial information. As EEG recordings during spontaneous sleep are not always possible, pharmacological sleep-inducing ...agents are sometimes required. The aim of the study was to evaluate safety and efficacy of melatonin (Mel) and dexmedetomidine (Dex; intranasal and sublingual application) for sleep induction prior to EEG.
In this prospective randomized study, 156 consecutive patients aged 1-19 years were enrolled and randomized by draw into melatonin group (Mel;
= 54; dose: 0.1 mg/kg), dexmedetomidine (Dex) sublingual group (DexL;
= 51; dose: 3 mcg/kg) or dexmedetomidine intranasal group (DexN;
= 51; dose: 3 mcg/kg). We compared the groups in several parameters regarding efficacy and safety and also carried out a separate analysis for a subgroup of patients with complex behavioral problems.
Sleep was achieved in 93.6% of participants after the first application of the drug and in 99.4% after the application of another if needed. Mel was effective as the first drug in 83.3% and Dex in 99.0% (
< 0.001); in the subgroup of patients with complex developmental problems Mel was effective in 73.4% and Dex in 100% (
< 0.001). The patients fell asleep faster after intranasal application of Dex than after sublingual application (
= 0.006). None of the patients had respiratory depression, bradycardia, desaturation, or hypotension.
Mel and Dex are both safe for sleep induction prior to EEG recording in children. Dex is more effective compared to Mel in inducing sleep, also in the subgroup of children with complex behavioral problems.
Dexmedetomidine and Melatonin for Sleep Induction for EEG in Children, NCT04665453.
Objectives
The aim of this study was to analyse the characteristics of typical absence seizures (AS), myoclonic AS and AS with eyelid myoclonia in children and to find associations between these ...characteristics and difficult to treat absence seizures (DTAS).
Methods
This was a single-center retrospective study. Electronic health records of pediatric patients with a clinical diagnosis of AS treated at a single tertiary epilepsy center between January 2013 and June 2020 were reviewed. Clinical characteristics, seizure information, ASM, and therapeutic response of patients were recorded. All patients were followed up for at least 1 year. DTAS were defined as failure to achieve remission after treatment with at least 2 anti-seizure medications (ASM), regardless of whether remission was achieved eventually in the study period.
Results
Data from 131 patients were available for analysis. Remission was achieved after the first ASM treatment in 81 (61.8%) patients, and eventually in 120 (91.6%) during the study period. Epilepsy was classified as DTAS in 18 (13.7%) patients. AS were more often difficult to treat in patients with myoclonic AS and AS with eyelid myoclonia (40.0%), compared with patients with typical AS (11.4%;
p
= 0.012, 95% CI 1.480–25.732). A positive family history of epilepsy (
p
= 0.046; 95% CI 1.021–8.572), a higher seizure frequency (
p
= 0.023, 95% CI 1.009–1.126) prior to ASM treatment, and longer time between seizure onset and treatment onset (
p
= 0.026; 95% CI 1.006–1.099) were also associated with DTAS.
Significance
Our study suggests that several clinical characteristics of AS are associated with DTAS. One of these was the time between onset of AS and initiation of ASM treatment, which can be shortened with better care, suggesting that early diagnosis and treatment may improve prognosis in pediatric patients with AS. These findings remain to be confirmed in larger prospective studies.
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