Publications by authors named "Nobili L"

Article Synopsis
  • - The transition from pediatric to adult care for epilepsy is complex and involves multiple stakeholders, essential for providing high-quality care and preventing negative outcomes in young patients.
  • - The study aimed to address the challenges and needs in this transition process from the perspective of adult neurologists through a survey assessing their views on the issue.
  • - Results indicate that adult neurologists find the transition challenging and recommend a collaborative approach between child and adult neurologists, along with better training in childhood epilepsy.
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Subclinical rhythmic electrographic discharge of adults (SREDA) is one of the rarest and most challenging non-epileptic electroencephalographic variants. Although the pathogenesis of this activity is unclear, an association with vascular insufficiency and cerebral hypoxia has been proposed. SREDA usually occurs in adulthood, but there are few reports in the pediatric population.

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Importance: There are suggestions that school pressure may be stressful and a factor in child and adolescent mental health disturbances, but data about this association are scarce and inconclusive.

Objective: To assess whether varying degrees of school interruption were associated with changes in emergency department (ED) psychiatric visits of children and adolescents before and after the COVID-19 outbreak.

Design, Setting, And Participants: A cross-sectional observational study was conducted at 9 urban university hospitals in Italy.

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Background: Sleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 () gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk.

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Objective: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.

Methods: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome.

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Article Synopsis
  • The study evaluated seizure and developmental outcomes in 160 children under three years old who underwent surgery for lesional epilepsy from 1998 to 2022, focusing on predictors and complications.
  • 75.6% of patients achieved seizure freedom (Engel class I) after surgery, but complications occurred in 10% of cases, with some experiencing unexpected permanent deficits.
  • The findings indicated that earlier surgery, lower preoperative seizure frequency, and better developmental status are linked to better outcomes, with an increase in surgeries performed after 2014, while maintaining stable outcomes.
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While research interest in the relationship between sleep and epilepsy is growing, it primarily centres on the effects of non-rapid eye movement (NREM) sleep in favouring seizures. Nonetheless, a noteworthy aspect is the observation that, in the lives of patients with epilepsy, REM sleep represents the moment with the least epileptic activity and the lowest probability of having a seizure. Studies demonstrate a suppressive effect of phasic REM sleep on interictal epileptiform discharges, potentially offering insights into epilepsy localisation and management.

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Objective: Cerebral cavernous malformations (CCMs) are cerebral vascular lesions that occasionally occur with seizures. We present a retrospective case series from IRCCS Gaslini Children's Hospital, a systematic review, and meta-analysis of the literature with the goal of elucidating the post-surgery seizure outcome in children with CCMs.

Methods: a retrospective review of children with cavernous malformation related epilepsy who underwent surgery at Gaslini Children's Hospital from 2005 to 2022 was conducted.

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The present article explores the connection between insomnia and Autism Spectrum Disorder (ASD), focusing on the efficacy and safety of melatonin treatments as supported by existing research and current guidelines. In this narrative review a group of Italian experts provide an analysis of the various aspects of managing insomnia in children with ASD, highlighting key points that could enhance the quality of life for both patients and their caregivers. This includes the significance of comprehensively understanding the root causes of a child's sleep difficulties for more effective, long-term management.

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Background: Rett syndrome (RTT) is a rare neurological disorder primarily associated with mutations in the methyl-CpG-binding protein 2 (MECP2) gene. The syndrome is characterized by cognitive, social, and physical impairments, as well as sleep disorders and epilepsy. Notably, dysfunction of the autonomic nervous system is a key feature of the syndrome.

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Objective: Postsurgical seizure freedom in drug-resistant epilepsy (DRE) patients varies from 30% to 80%, implying that in many cases the current approaches fail to fully map the epileptogenic zone (EZ). We aimed to advance a novel approach to better characterize epileptogenicity and investigate whether the EZ encompasses a broader epileptogenic network (EpiNet) beyond the seizure zone (SZ) that exhibits seizure activity.

Methods: We first used computational modeling to test putative complex systems-driven and systems neuroscience-driven mechanistic biomarkers for epileptogenicity.

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Sleeping problems are prevalent among children and adolescents, often leading to frequent consultations with pediatricians. While cognitive-behavioral therapy has shown effectiveness, especially in the short term, there is a lack of globally endorsed guidelines for the use of pharmaceuticals or over-the-counter remedies in managing sleep onset insomnia. An expert panel of pediatric sleep specialists and chronobiologists met in October 2023 to develop practical recommendations for pediatricians on the management of sleep onset insomnia in typically developing children.

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Narcolepsy type 1 is a central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy and other rapid eye movement sleep-related manifestations. Neurophysiological studies suggest that narcolepsy type 1 patients may experience impairment in emotional processing due to structural and functional changes in limbic structures and associated areas. However, the only study exploring narcolepsy behavioural responses found no impairment in the ability to recognize emotions, possibly due to compensatory mechanisms.

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Besides recent advances in neonatal care, preterm newborns still develop sex-biased behavioral alterations. Preterms fail to receive placental insulin-like growth factor-1 (IGF-1), a major fetal growth hormone in utero, and low IGF-1 serum levels correlate with preterm poor neurodevelopmental outcomes. Here, we mimicked IGF-1 deficiency of preterm newborns in mice by perinatal administration of an IGF-1 receptor antagonist.

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Objective: Negative MRI and an epileptogenic zone (EZ) adjacent to eloquent areas are two main issues that can be encountered during pre-surgical evaluation for epilepsy surgery. Focal Cortical Dysplasia type II (FCD type II) is the most common aetiology underlying a negative MRI. The objective of this study is to present three cases of pediatric patients exhibiting negative MRI and a seizure onset zone close to eloquent areas, who previously underwent traditional open surgery or SEEG-guided radiofrequency thermocoagulations (RF-TC).

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Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT.

Methods: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.

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Article Synopsis
  • * It exists on a spectrum that includes other conditions like confusional arousal and night terrors, and while often seen as harmless, it can have serious social, personal, and legal implications.
  • * This review highlights the current understanding of somnambulism, focusing on its clinical features, diagnostic methods, and the impact it can have on individuals' lives.
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Article Synopsis
  • Extra-uterine growth restriction (EUGR) is linked to poor development outcomes in very-low-birth-weight neonates, with a study of 288 patients examining various factors influencing growth and development.
  • The research found that a higher weight z-score at 6 months positively impacts overall developmental quotient (DQ) at 2 years, while EUGR at that age correlates with poorer performance across multiple developmental areas.
  • The findings highlight the importance of improved post-discharge nutrition and family education to support better growth and development in vulnerable infants.
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Article Synopsis
  • - Epilepsy surgery can benefit individuals with focal onset drug-resistant seizures, but accurate diagnosis of the epileptogenic zone (EZ) is crucial for effectiveness, often relying on experienced interpretation of seizure symptoms.
  • - This study aims to improve EZ localization by automatically analyzing seizure descriptions in video-EEG reports, utilizing Natural Language Processing (NLP) and Machine Learning (ML) techniques on a dataset of 536 seizure descriptions from 122 patients.
  • - The proposed method achieved over 70% accuracy in classifying the EZ's location within the brain, suggesting that improved recognition of the EZ through this approach could lead to better patient outcomes and quicker access to surgery.
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Background And Objectives: Narcolepsy type 1 (NT1) is still largely underdiagnosed or diagnosed too late in children. Difficulties in obtaining rapid and reliable diagnostic evaluations of the condition in clinical practice partially explain this problem. Predictors of NT1 include cataplexy and sleep-onset REM periods (SOREMPs), documented during nocturnal polysomnography (N-PSG) or through the multiple sleep latency test (MSLT), although low CSF hypocretin-1 (CSF hcrt-1) is the definitive biological disease marker.

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Article Synopsis
  • Researchers identified a genetic cause for a rare neurodevelopmental syndrome characterized by cognitive impairment, distinctive facial features, and various additional health issues.
  • They studied six individuals from unrelated families using exome sequencing and created models with human stem cells and zebrafish to examine the effects of the identified gene, CACHD1.
  • Results showed that mutations in CACHD1 lead to significant neural development problems and physical defects, linking it directly to the syndrome’s symptoms.
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Background: Insomnia is the most reported sleep disorder in industrialized countries, affecting, in the chronic form, around 10% of the European population. In Italy, such a percentage seems to be even higher. Although insomnia can be an independent disorder, it is frequently described as comorbid condition and may precipitate, exacerbate, or prolong a broad range of physical and mental disorders.

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