Can we predict efficacy of the ketogenic diet in children with refractory epilepsy?

Background: The ketogenic diet (KD) can be effective in reducing seizures in children. Predictors of success have not been identified yet.

Aims: To evaluate efficacy of KD treatment and to search for child- or diet-related factors that can predict its efficacy at 12 months follow-up.

Long-term outcome in children with low grade tectal tumours and obstructive hydrocephalus.

Background: Neuropsychological deficits after treatment of paediatric brain tumour are well known, but not the role of hydrocephalus in these deficits.

Aims: To study long-term neurological, cognitive, and behavioural deficits in children with a low grade tectal tumour and acquired obstructive hydrocephalus.

Methods: In a consecutive series of 12 children with low-grade tectal tumour diagnosed in our hospital between 1994 and 2008, neurologic, neuropsychological, and radiologic data were prospectively collected.

Validity of parentally reported febrile seizures: the generation R study.

The objective of this study was to examine the validity of the diagnosis of "febrile seizure" as reported by parents. The study was embedded in a population-based prospective cohort study. Information on paroxysmal events was obtained by screening questions at ages 1, 2, and 3 years.

Febrile seizures and behavioural and cognitive outcomes in preschool children: the Generation R study.

Aim: General developmental outcome is known to be good in school-aged children who experienced febrile seizures. We examined cognitive and behavioural outcomes in preschool children with febrile seizures, including language and executive functioning outcomes.

Method: This work was performed in the Generation R Study, a population-based cohort study in Rotterdam from early fetal life onwards.

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.

Objective: Monocarboxylate transporter 8 (MCT8) is an essential thyroid hormone (TH) transporter as humans with MCT8 mutations have severe neurological and endocrine abnormalities. The objectives are (i) to identify novel MCT8 mutations and (ii) to assess their functional relevance; (iii) to describe the effects of block-and-replace treatment in an MCT8 patient.

Design: The TOP-R study is a cross-sectional nation-wide multicentre study.

Frequent fever episodes and the risk of febrile seizures: the Generation R study.

Aim: To examine the association between the number of fever episodes and the risk of febrile seizures.

Methods: This study was embedded in a population-based prospective cohort study from early foetal life onwards. Information about the occurrence of febrile seizures and fever episodes was collected by questionnaires at the ages of 12, 24 and 36 months.

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

Aim: To evaluate survival, clinical, and genetic characteristics of all patients with classic or type 1 lissencephaly born between 1972 and 1990 in the Netherlands, who at the time were enrolled in an observational study.

Method: We re-evaluated 24 patients (11 males, 13 females) for long-term follow-up and survival information.

Results: Mean length of follow-up was 14 years (SD 9 y 8 mo).

Fetal growth retardation and risk of febrile seizures.

Objective: The goal was to examine the associations between fetal growth characteristics in different trimesters of pregnancy and the occurrence of febrile seizures in early childhood.

Methods: This study was embedded in a population-based, prospective, cohort study from early fetal life onward. Fetal growth characteristics (femur length, abdominal circumference, estimated fetal weight, head circumference, biparietal diameter, and transverse cerebellar diameter [TCD]) were measured with ultrasonography in the second and third trimesters of pregnancy.

Long term outcome of benign childhood epilepsy with centrotemporal spikes: Dutch Study of Epilepsy in Childhood.

Purpose: To determine long-term outcome in a cohort of children with newly diagnosed benign childhood epilepsy with centrotemporal spikes (BECTS).

Methods: 29 children with BECTS were included in the Dutch Study of Epilepsy in Childhood. Each child was followed for 5 years, and subsequently contacted 12-17 years after enrolment to complete a structured questionnaire.

Paroxysmal disorders in infancy and their risk factors in a population-based cohort: the Generation R Study.

Aim: To examine the incidence of paroxysmal epileptic and non-epileptic disorders and the associated prenatal and perinatal factors that might predict them in the first year of life in a population-based cohort.

Method: This study was embedded in the Generation R Study, a population-based prospective cohort study from early fetal life onwards. Information about the occurrence of paroxysmal events, defined as suddenly occurring episodes with an altered consciousness, altered behaviour, involuntary movements, altered muscle tone, and/or a changed breathing pattern, was collected by questionnaires at the ages of 2, 6, and 12 months.

Landau-Kleffner syndrome and CSWS syndrome: treatment with intravenous immunoglobulins.

This study reports results of therapy with immunoglobulin in children with Landau-Kleffner syndrome (LKS) or the syndrome of continuous spikes and waves during sleep (CSWS syndrome). In a prospective study, children diagnosed between 2002 and 2006 with either LKS or CSWS syndrome were treated soon after diagnosis with intravenous courses of immunoglobulin (IVIg). We compared the results with those reported in the literature and with data from a retrospective survey of our earlier patients.

Long-term outcome of childhood absence epilepsy: Dutch Study of Epilepsy in Childhood.

We determined long-term outcome and the predictive value of baseline and EEG characteristics on seizure activity evolution in 47 children with newly diagnosed childhood absence epilepsy (CAE) included in the Dutch Study of Epilepsy in Childhood. All children were followed for 12-17 years. The children were subdivided in three groups for the analyses: those becoming seizure-free (I) within 1 month after enrolment; (II) 1-6 months after enrolment; and (III) more than 6 months after enrolment or having seizures continuing during follow-up.

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial.

Context: Neurofibromatosis type 1 (NF1) is among the most common genetic disorders that cause learning disabilities. Recently, it was shown that statin-mediated inhibition of 3-hydroxy-3-methylglutaryl coenzyme A reductase restores the cognitive deficits in an NF1 mouse model.

Objective: To determine the effect of simvastatin on neuropsychological, neurophysiological, and neuroradiological outcome measures in children with NF1.

When to start drug treatment for childhood epilepsy: the clinical-epidemiological evidence.

Introduction: Many data on the course and prognosis after provoked and unprovoked single and multiple seizures in childhood have been collected in the past decennia by prospective, large-scale, long-term observational cohort studies. These data may serve to guide treatment decisions and help to design controlled trials investigating treatment strategies in childhood epilepsy.

Methods: The results of the Dutch study of epilepsy in childhood will be compared with those of other studies.

Add-on levetiracetam in children and adolescents with refractory epilepsy: results of an open-label multi-centre study.

Purpose: To study the efficacy and tolerability of add-on levetiracetam in children and adolescents with refractory epilepsy.

Methods: In this prospective multi-centre, open-label, add-on study, 33 children aged 4-16 years (median 8.5 years) with epilepsy refractory to at least two antiepileptic drugs were treated with levetiracetam in addition to their present treatment regimen with a follow-up of 26 weeks.

Validation of two prognostic models predicting outcome at two years after diagnosis in a new cohort of children with epilepsy: the Dutch Study of Epilepsy in Childhood.

Purpose: To validate two prognostic models for childhood-onset epilepsy designed to predict a terminal remission of <6 months at 2 years after diagnosis in children referred to the hospital.

Methods: A hospital-based cohort of children with newly diagnosed epilepsy was recruited and followed up for 2 years to validate previously developed models. One model was based on variables collected at intake, and the other was based on intake variables plus variables collected during the first 6 months of follow-up.

Medical end-of-life decisions for children in the Netherlands.

Background: Most end-of-life decision-making studies have, until now, involved either the general population or newborn infants.

Objective: To assess the frequency of end-of-life decisions preceding child death and the characteristics of the decision-making process in the Netherlands.

Methods: Two studies were performed.

Status epilepticus: clinical analysis of a treatment protocol based on midazolam and phenytoin.

The efficacy of a combination of midazolam and phenytoin in treating generalized convulsive status epilepticus in children was studied retrospectively. The patient group comprised all patients admitted for generalized convulsive status epilepticus to the pediatric intensive care unit over 7 years. Patients treated according to the protocol were included (N = 122).

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.

A 2-year-old boy presented with early-onset Charcot-Marie-Tooth disease (CMT). His parents had not been diagnosed previously with CMT, but on careful examination they showed clinical signs of CMT and reduced nerve conduction velocities. Genetic analysis identified the boy as a heterozygote for both a peripheral myelin protein 22 (PMP22) duplication and a mutation in the lipopolysaccharide-induced-tumour-necrosis-factor-alpha-factor (LITAF) gene, whereas each parent only had one mutated CMT gene.

Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood.

Knowing the prognosis of epilepsy will undoubtedly influence the treatment strategy. This study aimed to define the prospects of newly diagnosed childhood epilepsy, assess the dynamics of its course, identify relevant variables and develop models to assess the individual prognosis. Four hundred and fifty-three children with newly diagnosed epilepsy were followed for 5 years.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Objective: Recent reports warn that the worldwide cell culture capacity is insufficient to fulfill the increasing demand for human protein drugs. Production in milk of transgenic animals is an attractive alternative. Kilogram quantities of product per year can be obtained at relatively low costs, even in small animals such as rabbits.

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen is caused by acid alpha-glucosidase deficiency. Patients with late-onset Pompe's disease present with progressive muscle weakness also affecting pulmonary function.

Parent-reported subjective complaints in children using antiepileptic drugs: what do they mean?

We used a parent-completed 20-item "side effect scale" quantifying complaints that parents perceive to be caused by antiepileptic drugs (AEDs) in 108 children with active epilepsy. We studied the associations between parent-reported complaints, severity of seizures, and restrictions due to epilepsy, and clinical data including number and AED load. In 85% of the children at least one complaint was reported, in less than 20% complaints were perceived as a substantial problem.