Efficacy and tolerability of vagus nerve stimulation therapy (VNS) in Slovenian epilepsy patients: younger age and shorter duration of epilepsy might result in better outcome.

To review the outcome of vagus nerve stimulation (VNS) therapy in all implanted Slovenian patients with drug-resistant epilepsy, data on 48 patients implanted between 2001 and 2015 were obtained retrospectively from medical records. The outcome was assessed in 2016. Out of 48 patients, 39 responded at follow up. The seizure frequency was reduced in 18 (46.2%) patients; 13 (33.3%) of them reported ≥50% reduction after 12 months of therapy. The responder rate was higher among patients implanted before the age of six years. Ictal severity decreased in 22 (56.4%), seizure duration in 19 (48.7%) and post-ictal recovery time in 22 (56.4%) patients. Favorable effects on the quality of life (QOL) were improved alertness in 33.3%, concentration in 41.0%, energy and mood in 38.5%, and memory in 17.9% of patients. Reduced seizure burden and improved QOL were more often observed in patients implanted at a younger age. Shorter duration of epilepsy was significantly associated with QOL improvement. Adverse effects were transient. Overall positive effects showed VNS to be a safe, well-tolerated and effective adjunctive treatment in most severe drug-resistant epilepsy patients. Implantation at a younger age and shorter duration of epilepsy before implantation could be important predictors of better outcome.

Acute rheumatic fever outbreak in southern central European country.

A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European country, Slovenia, up to 2010 when we noticed an increase in the number of patients with ARF. In order to assess the current incidence of ARF, we performed a retrospective study of all patients with ARF treated at the University Children's Hospital Ljubljana from January 2008 until the end of December 2014. In a period of 7 years, 19 patients with ARF were identified. The estimated annual incidence of ARF during the study period was 1.25 cases per 100,000 children. Carditis was present in all patients, arthritis in 37 % and Sydenham chorea in 32 %. CONCLUSION: Recent ARF outbreak in Slovenia revealed that this disease is still present in southern central Europe with an estimated annual incidence of 1.25 cases per 100,000 children. Unrecognized or inadequately treated ARF could be the cause of acquired heart disease and must be even nowadays included among the differential diagnoses in a febrile child with arthritis, heart murmur or movement disorder. What is Known: • Acute rheumatic fever (ARF) is diagnosed based on the major and minor Jones Criteria. • A decline in the incidence of ARF in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. What is New: • In the last decade, an increase in the incidence of ARF was observed in Slovenia which has a central European geographic position. • Our paper highlights the importance of including ARF in the differential diagnosis of a febrile child with arthritis/arthralgia and/or heart murmur and/or acute chorea.

The role of transcranial magnetic stimulation in evaluation of motor cortex excitability in Rett syndrome.

UNLABELLED: Rett syndrome (RTT) is a frequent neurodevelopmental disorder confirmed by clinical criteria and supported by the methyl-CpG-binding protein 2 gene (MECP2) mutation. A short central motor conduction time (CMCT) was reported in transcranial magnetic stimulation (TMS) studies performed in RTT. This was attributed to hyperexcitability of the motor cortex and/or spinal motor neurons, but was not studied further. AIM: We performed TMS in RTT to evaluate motor cortex excitability by determining the cortical motor threshold (CMT) and motor cortex inhibition by the cortical silent period (CSP) besides measuring CMCT. METHODS: Single-pulse TMS was performed in 17 Rett patients, diagnosed by clinical criteria and MECP2 mutation testing, and the same number of healthy controls. The outcome measures were compared between RTT groups with different antiepileptic drugs (AED) and those with and without the MECP2 mutation. RESULTS: CMCT was shorter, but we found elevated CMT and shorter CSP, which suggests decreased excitatory and inhibitory motor cortical function. The outcome was independent of AED and the presence or absence of the MECP2 mutation. INTERPRETATION: Decreased excitatory and inhibitory motor cortical function could explain the short CMCT, with higher stimulus intensities needed to excite pyramidal neurons.

Management of epilepsy in patients with Rett syndrome: perspectives and considerations.

Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of acquired motor skills, loss of purposeful activity, hand stereotypies, loss of acquired spoken language, and seizures. Epilepsy affects the majority of patients in a specific clinical stage of the disease and is drug resistant in approximately one-third of cases. The association of epilepsy and even drug-resistant epilepsy has been reported in certain genotypes of the methyl-CpG-binding protein 2 mutation, which is present in a majority of patients with classical RTT. The evolution of electroencephalographic abnormalities accompanying the clinical development of the syndrome is well described, but much less is known about the seizure semiology and the effectiveness of specific antiepileptic drugs. The aim of this review is to present the clinical and electrophysiological aspects of epilepsy in RTT and the current treatment approach.

Severe respiratory dysrhythmia in Rett syndrome treated with topiramate.

Rett syndrome is a neurodevelopmental disorder that manifests itself early in childhood, progresses with the evolution of characteristic clinical signs and symptoms and is confirmed by mutation in the methyl-CpG-binding protein 2 gene. Seizures are present in a majority of Rett patients. Respiratory dysrhythmia in the awake state is present in two-thirds of patients, leading in some cases to severe nonepileptic paroxysmal events. There are no optimal treatment recommendations thus far. The aim of this case study is to present the electro-clinical correlation of severe respiratory dysrhythmia mimicking seizures in 2 Rett patients and effective treatment with topiramate.

Epilepsy treatment in Rett syndrome.

Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was present in 16 of 19 (84%) patients with Rett syndrome in this series. The mean age of seizure onset was 4 years. Remission of seizures was achieved after the first monotherapy in 56% and after the second monotherapy in 18.5% of patients. Valproate, lamotrigine, and carbamazepine were the drugs used most frequently as monotherapy. Valproate monotherapy was highly effective as 75% of treated patients achieved seizure remission. Monotherapy with lamotrigine or carbamazepine was effective in half of the treated patients. There was a clear tendency toward seizure remission after the age of 15 years.