Epilepsy in adult patients with Down syndrome : a clinical-video EEG study

Patients with Down syndrome are now living longer and the overall prevalence of epilepsy is increasing, however, full characterisation of epilepsy in adult age is still incomplete. We describe the electroclinical characteristics of epilepsy in 22 adult patients with Down syndrome (11 males, 11 females), with a mean age of 46 years (range: 28-64 years), followed at the Epilepsy Centre, San Paolo Hospital in Milan. Mean age at epilepsy onset was 36.8 years (range: 6-60 years). Nine out of 22 patients had focal epilepsy, while nine had late-onset myoclonic epilepsy. In four patients, epilepsy was unclassified. The EEG pattern of our patients was characterised by a progressive slowing of the background activity with sharp-and-slow waves with frontal predominance. In the patients diagnosed with late-onset myoclonic epilepsy, the EEGs showed generalised polyspike waves. Three subjects had an episode of myoclonic status epilepticus at the beginning or in the course of the disorder. After the first descriptions of late-onset myoclonic epilepsy by Genton and Paglia (1994), this is one of the largest patient cohorts reported. Our data confirm that epilepsy in adult patients with Down syndrome presents peculiar electroclinical characteristics which should be recognized early as prompt, effective treatment may be beneficial. [Published with video sequences]

Chronobiology, sleep-related risk factors and light therapy in perinatal depression : the "Life-ON" project

Perinatal depression (PND) has an overall estimated prevalence of roughly 12\ua0%. Untreated PND has significant negative consequences not only on the health of the mothers, but also on the physical, emotional and cognitive development of their children. No certain risk factors are known to predict PND and no completely safe drug treatments are available during pregnancy and breastfeeding. Sleep and depression are strongly related to each other because of a solid reciprocal causal relationship. Bright light therapy (BLT) is a well-tested and safe treatment, effective in both depression and circadian/sleep disorders

Adjunctive Brivaracetam in Focal Epilepsy: Real-World Evidence from the BRIVAracetam add-on First Italian netwoRk STudy (BRIVAFIRST)

Background: In randomized controlled trials, add-on brivaracetam (BRV) reduced seizure frequency in patients with drug-resistant focal epilepsy. Studies performed in a naturalistic setting are a useful complement to characterize the drug profile. Objective: This multicentre study assessed the effectiveness and tolerability of adjunctive BRV in a large population of patients with focal epilepsy in the context of real-world clinical practice. Methods: The BRIVAFIRST (BRIVAracetam add-on First Italian netwoRk STudy) was a retrospective, multicentre study including adult patients prescribed adjunctive BRV. Patients with focal epilepsy and 12-month follow-up were considered. Main outcomes included the rates of seizure‐freedom, seizure response (≥ 50% reduction in baseline seizure frequency), and treatment discontinuation. The incidence of adverse events (AEs) was also considered. Analyses by levetiracetam (LEV) status and concomitant use of strong enzyme-inducing antiseizure medications (EiASMs) and sodium channel blockers (SCBs) were performed. Results: A total of 1029 patients with a median age of 45 years (33–56) was included. At 12 months, 169 (16.4%) patients were seizure-free and 383 (37.2%) were seizure responders. The rate of seizure freedom was 22.3% in LEV-naive patients, 7.1% in patients with prior LEV use and discontinuation due to insufficient efficacy, and 31.2% in patients with prior LEV use and discontinuation due to AEs (p < 0.001); the corresponding values for ≥ 50% seizure frequency reduction were 47.9%, 29.7%, and 42.8% (p < 0.001). There were no statistically significant differences in seizure freedom and seizure response rates by use of strong EiASMs. The rates of seizure freedom (20.0% vs. 16.6%; p = 0.341) and seizure response (39.7% vs. 26.9%; p = 0.006) were higher in patients receiving SCBs than those not receiving SCBs; 265 (25.8%) patients discontinued BRV. AEs were reported by 30.1% of patients, and were less common in patients treated with BRV and concomitant SCBs than those not treated with SCBs (28.9% vs. 39.8%; p = 0.017). Conclusion: The BRIVAFIRST provided real-world evidence on the effectiveness of BRV in patients with focal epilepsy irrespective of LEV history and concomitant ASMs, and suggested favourable therapeutic combinations

Sustained seizure freedom with adjunctive brivaracetam in patients with focal onset seizures

The maintenance of seizure control over time is a clinical priority in patients with epilepsy. The aim of this study was to assess the sustained seizure frequency reduction with adjunctive brivaracetam (BRV) in real-world practice. Patients with focal epilepsy prescribed add-on BRV were identified. Study outcomes included sustained seizure freedom and sustained seizure response, defined as a 100% and a ≥50% reduction in baseline seizure frequency that continued without interruption and without BRV withdrawal through the 12-month follow-up. Nine hundred ninety-four patients with a median age of 45 (interquartile range = 32–56) years were included. During the 1-year study period, sustained seizure freedom was achieved by 142 (14.3%) patients, of whom 72 (50.7%) were seizure-free from Day 1 of BRV treatment. Sustained seizure freedom was maintained for ≥6, ≥9, and 12 months by 14.3%, 11.9%, and 7.2% of patients from the study cohort. Sustained seizure response was reached by 383 (38.5%) patients; 236 of 383 (61.6%) achieved sustained ≥50% reduction in seizure frequency by Day 1, 94 of 383 (24.5%) by Month 4, and 53 of 383 (13.8%) by Month 7 up to Month 12. Adjunctive BRV was associated with sustained seizure frequency reduction from the first day of treatment in a subset of patients with uncontrolled focal epilepsy

Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning

Pre- and post-dormitum epilepsies : idiopathic generalized epilepsies

Epilepsy and sleep have a profound bidirectional influence. Idiopathic generalized epilepsy (IGE) comprises a fascinating group of syndromes that constitute nearly one-third of all epilepsies. These syndromes are genetically determined and affect otherwise normal people of both sexes and all races. IGE manifests with typical absences, myoclonic jerks, and generalized tonic-clonic seizures, alone or in varying combinations and severity. IGE syndromes are typically modulated by the sleep-wake cycle, and particularly by the sleep-wake transition process, both in terms of the occurrence of seizures and interictal epileptiform discharges (IED), with pronounced susceptibility to sleep deprivation. IGE analysis from the point of view of arousal modulation enhances the concept of a biological continuum existing among IGE syndromes. At the same time, this analysis broaches the problem of syndromic diagnosis and identification of the factors influencing the phenotypic expression of some epileptic phenomena over the course of life with potential bidirectional influences between epileptic manifestations and sleep-wake processes

Non-convulsive status epilepticus and generalised tonic-clonic seizures ersisting in old age in a patient with idiopathic generalised epilepsy: A long-term observation

Persisting non-convulsive status epilepticus in a man with idiopathic generalised epilepsy is reported. After a first generalised tonic/clonic seizure on awakening one day at the age of 20, the patient experienced rare nonconvulsive status epilepticus until the age of 73, when the frequency of the episodes increased, in spite of the initiation of treatment with antiepileptic drugs. No significant cognitive decline was documented when the patient was 83. The existence of such conditions in the context of idiopathic generalised epilepsy shows the problems of syndromic diagnosis and of age dependency of some epileptic phenomena over the course of life with potential bidirectional influences between epileptic manifestations and senile processes © Springer-Verlag Italia 2006