A5080362308- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- EEG and Brain-Computer Interfaces
- Attention Deficit Hyperactivity Disorder
- Sleep and Wakefulness Research
- Genomic variations and chromosomal abnormalities
- Suicide and Self-Harm Studies
- Pharmacological Effects and Toxicity Studies
- Child and Adolescent Psychosocial and Emotional Development
- Autoimmune Neurological Disorders and Treatments
- Neurological and metabolic disorders
- Metabolism and Genetic Disorders
- Adenosine and Purinergic Signaling
- Migraine and Headache Studies
- Infectious Encephalopathies and Encephalitis
- Folate and B Vitamins Research
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Amino Acid Enzymes and Metabolism
- Cellular transport and secretion
- Ion Transport and Channel Regulation
- Cardiac and Coronary Surgery Techniques
- Trypanosoma species research and implications
- Chromatin Remodeling and Cancer
IRCCS Materno Infantile Burlo Garofolo
2014-2024
University of Trieste
2015-2024
Centro Studi GISED
2024
University of Padua
2015
Summary Objective PCDH 19‐related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever‐induced seizures, often associated intellectual disability ( ID ) autistic features. The aim of this study was to analyze a large cohort patients better define the phenotype, genotype‐phenotype correlations, related outcome‐predicting factors. Methods We retrospectively collected genetic, clinical, electroencephalogram EEG data 61 followed at 15 centers. All...
Knowledge of the natural history CDKL5 deficiency disorder (CDD) is limited to results cross-sectional analysis largely pediatric cohorts. Assessment outcomes in adulthood critical for clinical decision-making and future precision medicine approaches but challenging because diagnostic gap duration follow-up that would be required prospective studies. We aimed delineate retrospectively from adulthood. analyzed data about an international cohort 67 adults with CDD. demographic, phenotypic,...
Abstract Background and Purpose To explore specialists’ opinions on the current management of pediatric convulsive status epilepticus (CSE) in Italy main factors influencing applicability guidelines. Methods We conducted a national survey child neurologists, emergency physicians, intensivists. Within multidisciplinary Italian Paediatric Status Epilepticus (IPSE) Group, web‐based 48‐multiple‐choice questionnaire was developed to treatment choices, use internal protocols guidelines,...
Importance There are suggestions that school pressure may be stressful and a factor in child adolescent mental health disturbances, but data about this association scarce inconclusive. Objective To assess whether varying degrees of interruption were associated with changes emergency department (ED) psychiatric visits children adolescents before after the COVID-19 outbreak. Design, Setting, Participants A cross-sectional observational study was conducted at 9 urban university hospitals Italy....
Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for subunit caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy intellectual disability. Despite lack cases described, it appears that POBINDS could manifest with wide range phenotypes, possibly related different CSNK2B. Our multicentric, retrospective study recruited nine patients POBINDS, detected...
The objective of the present study was to describe incidence and characteristics Self-Injurious Thoughts Behaviors (SITBs), among adolescents aged 11-18 admitted, over a two year period, all Emergency Departments Region North-eastern Italy through comprehensive analysis medical records. A two-step search performed in regional ED electronic database. First, we identified cases that had been clearly diagnosed as SITBs by an Department physician. Secondly, suspect were detected keyword...
Epileptic encephalopathies (EEs) and developmental epileptic (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery numerous genes involved in these conditions. However, more than 50% patients remained undiagnosed. A major obstacle lies high degree genetic heterogeneity wide phenotypic variability that has characterized disorders. Interpreting large amount NGS data is also crucial...
Tolosa-Hunt syndrome (THS) is characterized by unilateral painful ophthalmoplegia with oculomotor paresis, associated an idiopathic granulomatous inflammation involving the cavernous sinus, a typical relapsing-remitting course. We report case of 8-year-old girl who was admitted because exotropia and ptosis left eyelid, accompanied diplopia sovraorbital pain. The clinical data, neuroradiological findings response to steroid treatment suggested THS, as defined 2004 International Classification...
Suicide attempts and self-harm in adolescence are a major public health concern: they among the main causes of disability-adjusted life-years worldwide, with severe long-term consequences terms mental illness psychiatric hospitalisation significantly increased risk suicide. Several studies recently focused on hypothesis that adolescents may be particularly vulnerable to emotional dysregulation relation between problems emotion regulation suicidal self-harming behaviours. Italian...
ABSTRACT Involuntary movements can appear before and after initiation of vitamin B12 treatment. The pathogenesis involuntary in deficiency their relationship with cobalamin injection remain unclear due to a lack video‐EEG documentation making the electroclinical correlation difficult ascertain. Here, we report neuroimaging findings an 11‐month‐old girl deficiency, who acutely developed few days treatment normal plasmatic levels. Abnormal were combination tremor myoclonus involving face,...
Attention Deficit Hyperactivity Disorder (ADHD) diagnosis is essentially clinical and research of biomarkers represents a current great challenge. The interest in sleep spindle has been increased after the description their role cognitive functions involvement neurodevelopmental disorders. We aimed to investigate this peculiar aspect through EEG spectral analysis three different epochs (ante, spindle, post), order provide more detailed information on brain functioning ADHD. These features...
CSNK2B encodes for the regulatory subunit of casein kinase II, a serine/threonine that is highly expressed in brain and implicated development, neuritogenesis, synaptic transmission plasticity. De novo variants this gene have been identified as cause Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures variably impaired intellectual development. More than sixty mutations described so far. However, data clarifying their functional impact possible pathomechanism are...
Abstract Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently an ID syndrome including severe speech impairment, cerebral atrophy, hypotonia as clinical cornerstones. A role IDs has proposed based on physical interaction of p300, possibly reducing p300 co‐activator complex activity, similarly to what was observed Menke‐Hennekam 1 2 patients (MKHK1 2) carrying, respectively, exon 30 31 CREBBP EP300 , which code for...
Attention-deficit/hyperactivity disorder (ADHD) is a neurobehavioral with known brain abnormalities but no biomarkers to support clinical diagnosis. Recently, EEG analysis methods such as functional connectivity have rekindled interest in using for ADHD Most studies focused on resting-state EEG, while during sleep and spindle activity has been underexplored. Here we present the results of preliminary study exploring spindle-related possible biomarker ADHD. We compared sensor-space parameters...
Background: The acquisition of proper and relevant pediatric clinical data is essential to ensure tolerable effective drug therapies. In the field pharmacological treatment neuropsychiatric disorders, lack sufficient high quality scientific evidence for age results in frequent need prescribe off-label drugs. With aim improving knowledge about safety profile prescription children adolescent with neurological and/or psychiatric we realized a multidisciplinary pharmacovigilance study. Materials...
The attention-deficit/hyperactivity disorder (ADHD) is a common psychiatric that interferes with the typical development and both learning motor functioning in child's life. Most of children ADHD present also sleep problems like difficulties falling asleep maintaining sleep. Sleep spindles are characteristic waves stage 2 humans characterized by fusiform morphology. In last years, empirical evidence indicates associated cognitive faculties intelligence as well several disease states. On...
ABSTRACT Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine gene. It characterized congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease CSF or plasma guides subsequent investigations some cases, but normal values are described other cases. Therefore, reaching diagnosis challenging relies on exome sequencing. We report case of child with irritability,...