Publications by authors named "Irene Toldo"
Article Synopsis
- Tuberous sclerosis complex (TSC) causes issues like drug-resistant epilepsy and intellectual disabilities due to abnormal cortical structures like cortical tubers.
- * The study aimed to investigate the gyrification index (GI) as a potential indicator of TSC severity, analyzing MRI data of 45 TSC patients and 42 healthy controls.
- * Results showed that TSC patients had a higher GI, which correlated with neurological impairments, epilepsy, and other disorders, suggesting GI could serve as a valuable prognostic tool for characterizing TSC.
Article Synopsis
- The study aims to describe the electro-clinical characteristics of individuals with developmental and epileptic encephalopathy (DEE) caused by mutations in the PPP3CA gene.
- Four unique cases are analyzed, showing different seizure patterns and developmental issues linked to specific pathogenic variants in the gene.
- The findings suggest the type and location of these mutations significantly affect clinical outcomes, highlighting the need for more research and collaboration in this rare condition.
Background: Primary Stabbing Headache (PSH) is characterized by brief, focal, and paroxysmal pain ("stab"), occurring sporadically or in clusters. Data on pediatric cases are poor.
Methods: We performed a comprehensive literature review by searching PubMed, Cochrane, and Embase in order to collect pediatric case reports and case series of PSH.
Background: Acupuncture is a spreading and promising intervention, which has proven to be very useful in the treatment and prevention of chronic pain, in particular chronic headaches, in adults; the literature about the treatment of pediatric chronic headaches is scarce. In addition, few guidelines advise its use in children. The aim of this review is to collect all relevant studies with available data about the use, effect, and tolerability of acupuncture as a treatment for pediatric primary headaches.
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- Loss of function mutations in the STRADA gene lead to PMSE syndrome, a rare neurodevelopmental disorder marked by severe epilepsy, brain enlargement, and developmental delays.
- Two patients with different STRADA mutations exhibited distinct clinical presentations, with one showing a milder epilepsy course and the other a more typical PMSE response, effectively managed with sirolimus treatment.
- The study also developed a yeast model to test STRADA mutations, demonstrating that the p.(Ser264Arg) variant impacts gene function, highlighting the need for quick molecular diagnosis and the utility of yeast in validating genetic variants.
During development, the brain undergoes radical structural and functional changes following a posterior-to-anterior gradient, associated with profound changes of cortical electrical activity during both wakefulness and sleep. However, a systematic assessment of the developmental effects on aperiodic EEG activity maturation across vigilance states is lacking, particularly regarding its topographical aspects. Here, in a population of 160 healthy infants, children and teenagers (from 2 to 17 years, 10 subjects for each year), we investigated the development of aperiodic EEG activity in wakefulness and sleep.
View Article and Find Full Text PDFBackground: Evidence-based data on treatment of neonatal status epilepticus (SE) are scarce. We aimed to collect data on the efficacy and safety of ketamine for the treatment of neonatal SE and to assess its possible role in the treatment of neonatal SE.
Methods: We described a novel case and conducted a systematic literature review on neonatal SE treated with ketamine.
Background: Only a few studies have focused on hemiplegic migraine (HM) in children despite its early age of onset. The aim of this review is to describe the peculiar characteristics of pediatric HM.
Methods: This is a narrative review based on 14 studies on pediatric HM selected from 262 papers.
The literature on cold-stimulus headache (CSH) is relatively sparse compared to other primary headache disorders and the studies on the pediatric population are very limited. This systematic review aims to analyze the evidence on CSH in children and adolescents focusing on epidemiology, clinical features, pathogenic mechanisms, and treatments. Our review included 25 studies, among which 9 papers include pediatric cases (4 pediatric samples, 5 mixed samples of children and adults).
View Article and Find Full Text PDFBackground: Subcortical band heterotopia (SBH) is a rare malformation of the cortical development characterized by a heterotopic band of gray matter between cortex and ventricles. The clinical presentation typically includes intellectual disability and epilepsy.
Purpose: To evaluate if the Extended Glasgow Outcome Scale-pediatric version (EGOS-ped) is a feasible tool for evaluating the functional disability of patients with (SBH).
Background: Febrile infection-related epilepsy syndrome (FIRES) is a rare and catastrophic clinical syndrome occurring in previously healthy patients. Aetiology is still unknown and outcome usually poor. We describe a case of myoclonic prolonged super refractory status epilepticus (P-SRSE) in FIRES in a patient admitted to the paediatric intensive care unit of Padova, Italy.
View Article and Find Full Text PDFBackground: Carotid artery (CA) dissection is a rare etiology of neonatal arterial ischemic stroke (NAIS).
Methods: We describe one novel case and conduct a systematic literature review on NAIS attributed to CA dissection, to collect data on its clinical-radiological presentation, treatment, and outcome.
Results: Eight published cases of NAIS attributed to CA dissection were identified and analyzed with our case.
Article Synopsis
- The study aimed to identify early indicators of relapse and outcomes in pediatric patients with myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).* -
- Researchers analyzed data from 75 children, finding differences in disease presentation based on age; younger patients were more likely to present with acute disseminated encephalomyelitis, while older patients saw more cases of optic neuritis.* -
- Results highlighted specific early treatment factors, such as starting immunotherapy within 7 days or prolonged corticosteroid use, as associated with lower relapse risks; 21.1% of patients had moderate to severe disability at final follow-up, particularly among those with relapsing disease.*
A headache is the most common neurological symptom in children. Its subtypes are migraine (MH) and tension-type headache (TTH). Internalizing rather than externalizing symptoms are more frequent in children with headaches, but little is known about the reasons why.
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- Moyamoya is a rare brain artery disease that causes strokes and TIAs in children, either on its own (MMD) or alongside other conditions (MMS), accounting for 6-10% of these incidents.
- The study was conducted on 65 pediatric patients in Italy to analyze how the disease presents, progresses, is treated, and its outcomes.
- Findings revealed that most patients had symptoms (82%), many experienced strokes or TIAs, and 73% underwent surgery; however, 20% had subsequent strokes, and at follow-up, 43% had motor deficits, 31% intellectual disabilities, and other complications.
Neuronal surface antibody syndromes (NSAS) are an expanding group of autoimmune neurological diseases, whose most frequent clinical manifestation is autoimmune encephalitis (AE). Anti-NMDAR, anti-LGI1, and anti-CASPR2 autoimmunity represent the most described forms, while other NSAS are rarer and less well-characterized, especially in children. We carried out a systematic literature review of children with rare NSAS (with antibodies targeting D2R, GABAAR, GlyR, GABABR, AMPAR, amphiphysin, mGluR5, mGluR1, DPPX, IgLON5, and neurexin-3alpha) and available individual data, to contribute to improve their clinical characterization and identification of age-specific features.
View Article and Find Full Text PDFAn increased lifetime risk of epilepsy has been reported in neurofibromatosis type 1 (NF1) patients, ranging between 4% and 14%. To further analyze the correlation between NF1 and epilepsy, we retrospectively reviewed the epidemiologic, clinical, radiological, and molecular data of 784 unselected patients diagnosed with NF1 and referred to the neurofibromatosis outpatient clinics at the University Hospital of Padua. A crude prevalence of epilepsy of 4.
View Article and Find Full Text PDFObjective And Background: Sleep disorders (SD) are very common in childhood, especially in certain genetic syndromes. Tuberous Sclerosis Complex (TSC) is a genetic syndromesassociated with a high rate of SD, although these are still under-recognized. The aim of this study was to assess the prevalence of SD in TSC, and to evaluate the relationship between sleep, epilepsy and TSC-associated neuropsychiatric disorders (TAND).
View Article and Find Full Text PDFObjective: The present Italian multicenter study aimed at investigating whether the course of primary headache disorders in children and adolescents was changed during the lockdown necessary to contain the COVID-19 emergency in Italy.
Methods: During the lockdown, we submitted an online questionnaire to patients already diagnosed with primary headache disorders. Questions explored the course of headache, daily habits, psychological factors related to COVID-19, general mood and school stress.
Background: Cardiac disorders are the second leading cause of pediatric arterial ischemic stroke (AIS). Limited literature is available on pediatric AIS caused by cardiac myxoma, a rare tumor in childhood.
Methods: We describe a new case of pediatric AIS due to a previously unknown atrial myxoma and we conduct a literature review on children with AIS due to cardiac myxoma.