Exploring transition in epilepsy within ERN EpiCARE centers: Insights from a survey analysis.

The transition from pediatric to adult healthcare is a critical stage for young individuals with chronic neurological disorders, particularly those with rare and complex epilepsies. This paper aims to explore the practice of transition by healthcare providers within EpiCARE. Through a comprehensive questionnaire, developed in collaboration with European Patient Advocacy Groups, this study investigates the current management of transition and identifies key barriers hindering stakeholders' needs.

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

Background: Aicardi-Goutières syndrome (AGS) is a rare monogenic leukodystrophy belonging to type I interferonopathies caused by alterations in one of nine genes. Among them, homozygous RNASEH2B:c.529G>A(p.

Fourteen New Pediatric Cases of Shapiro Syndrome.

Background: Spontaneous periodic hypothermia (SPH), also known as Shapiro syndrome, is a rare syndrome characterized by paroxysmal episodes of spontaneous hypothermia. The diagnosis of SPH is based on clinical features; there are no specific instrumental tests and no agreed diagnostic criteria. The pathogenetic mechanisms underlying SPH are unclear, and from the therapeutic point of view opinions are divergent.

Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome.

Objectives: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit.

Automated Workflow for High-Throughput LC-MS/MS-Based Therapeutic Monitoring of Cannabidiol and 7-Hydroxy-cannabidiol in Patients with Epilepsy.

This study describes the development and validation of a fully automated workflow for serum sample preparation, enabling the quantitative determination of cannabidiol (CBD) and its active metabolite, 7-hydroxy-CBD, via liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) analysis. Implemented on an automated platform, the workflow performs key steps such as solvent dispensing, mixing, centrifugation, filtration, and supernatant transfer, producing 96-well plates ready for analysis. Human serum samples were obtained from patients with epilepsy treated with CBD.

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Objective: This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug-resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD).

Methods: We recruited subjects with genetically confirmed typical RTT and CDD with drug-resistant seizures who received add-on treatment with highly purified Cannabidiol (CBD) through a national collaboration group. CBD treatment was titrated from 5 to 20 mg/kg/day; concurrent antiseizure medications (ASMs) could have been adjusted as clinically indicated.

Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies.

Precision treatments for monogenic epilepsies, i.e. treatments that can at least partially reverse the biochemical consequences of a pathogenic gene variant, have been gradually emerging over the years.

Real-world use of adjunctive perampanel for focal-onset seizures in Italy: A mirroring clinical practice study of perampanel in adults and adolescents (AMPA).

Objective: The AMPA study (Study 501; NCT04257604) was a multicenter, prospective, 12-month observational study in Italy that evaluated the effectiveness and safety of adjunctive perampanel in patients with focal-onset seizures (FOS), with or without focal to bilateral tonic-clonic seizures (FBTCS).

Methods: Patients aged ≥12 years with insufficiently controlled FOS, with or without FBTCS, receiving 1-3 anti-seizure medications (ASMs) were prescribed adjunctive perampanel per the approved indication. The primary endpoint was the median percent change in total seizure frequency per 28 days from baseline at Month 6.

Ketogenic diet therapy for epilepsy during pregnancy and lactation: An international survey exploring clinician perspectives.

Objective: Ketogenic diet therapies (KDTs) are increasingly used as a treatment for people with epilepsy of childbearing potential (PWECP) and glucose transporter type 1 deficiency syndrome (Glut1DS). The aim of this study was to collect information on clinical experience with KDT during pregnancy and lactation in these populations.

Methods: Between December 2023 and June 2024, an online survey was widely circulated to healthcare professionals (HCPs) working with PWECP and people with Glut1DS of childbearing potential on KDT.

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.

Objective: This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response.

Methods: This study was conducted across 27 epilepsy centers and included patients with monogenic epileptic disorders (pathogenic or likely pathogenic variants) who were treated with highly purified CBD for at least 3 months.

Performance of Shock Index as a predictor of severe postpartum hemorrhage following cesarean section under spinal anesthesia: a retrospective cohort study.

Background: An early diagnosis of a postpartum hemorrhage (PPH) can be challenging. The Shock Index (SI), the ratio of heart rate to systolic blood pressure, appears to be a useful indicator for the early diagnosis of severe PPH after vaginal delivery. Our primary aim was to evaluate if the SI has a predictive value for severe PPH following cesarean section (C-section) under spinal anesthesia (SA) and its best predictive threshold.

Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study.

Introduction: Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. These manifestations are believed to be closely linked to both structural and functional abnormalities associated with SOD, potentially disrupting the natural circadian rhythm.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

Breakdown or Personality Disorder? Psychiatric Characterization and Developmental Pathways Towards Young Adulthood in Adolescents with Pathological Personality Structure.

: Research is lacking about the development of personality disorders (PDs) from adolescence to early adulthood. This study aimed to characterize the profile of high-risk adolescents compared to adolescents with full-blown PDs and adolescents with other psychiatric disorders and to identify clinical markers that constitute a risk profile. : We evaluated 99 adolescents (12-17 years old) through DSM-5-based semi-structured interviews, questionnaires, cognitive tasks, and scales regarding functioning and disorder severity.

Lung ultrasound assessment of atelectasis following different anesthesia induction techniques in pediatric patients: a propensity score-matched, observational study.

Introduction: Atelectasis is a well-documented complication in pediatric patients undergoing general anesthesia. Its incidence varies significantly based on surgical procedures and anesthesia techniques. Inhalation induction, commonly used to avoid the discomfort of venipuncture, is suspected to cause higher rates of respiratory complications, including atelectasis, compared to intravenous induction.

Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. The organization of KDT services, the availability of multidisciplinary teams, resources and support for patients and families still vary widely around the world. This diversity is reflected by a lack of consistency in reported outcomes, optimization of using KDT and KDT compliance.

GLUT1DS focus on dysarthria.

Research Purpose: GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS.

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.

Background: Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets.

Objectives: The objective was to evaluate the effectiveness and safety of triheptanoin in reducing the frequency of disabling movement disorders in patients with Glut1DS not receiving a ketogenic diet.

Sensorimotor Oscillations in Human Infants during an Innate Rhythmic Movement.

The relationship between cerebral rhythms and early sensorimotor development is not clear. In recent decades, evidence revealed a rhythmic modulation involving sensorimotor processing. A widely corroborated functional role of oscillatory activity is to coordinate the information flow across sensorimotor networks.

Adherence to ketogenic dietary therapies in epilepsy: A systematic review of literature.

Treatment adherence, defined as the degree to which the patient actively follows the plan of care, is very difficult for subjects undergoing ketogenic dietary therapies (KDTs). This is a relevant issue because adherence to dietary therapies is considered 1 of the primary determinants of the treatment's success. This paper aimed to review the literature evidence about KDT adherence according to age and diagnosis of patients.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric -mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.