103 results on '"Toldo, I."'
Search Results
2. Primary Stabbing Headache in Children and Adolescents
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Reimers, M., primary, Bonemazzi, I., additional, Brunello, F., additional, Cavaliere, E., additional, Sartori, S., additional, and Toldo, I., additional
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- 2024
- Full Text
- View/download PDF
3. Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study
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Moavero, R., primary, Voci, A., additional, La Briola, F., additional, Matricardi, S., additional, Toldo, I., additional, Mancardi, M., additional, Negrin, S., additional, Vigevano, F., additional, Mazzone, L., additional, Valeriani, M., additional, Curatolo, P., additional, and Bruni, O., additional
- Published
- 2022
- Full Text
- View/download PDF
4. Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication
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Verrotti, A., Laino, D., Rinaldi, V. E., Suppiej, A., Giordano, L., Toldo, I., Margari, L., Parisi, P., Rizzo, R., Matricardi, S., Cusmai, R., Grosso, S., Gaggero, R., Zamponi, N., Pavone, P., Capovilla, G., Rauchenzauner, M., Cerminara, C., Di Gennaro, G., Esposito, M., Striano, P., Savasta, S., Coppola, G., Siliquini, S., Operto, F., Belcastro, V., Ragona, F., Marseglia, G. L., and Spalice, A.
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- 2016
- Full Text
- View/download PDF
5. Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis
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Nosadini, Margherita, Granata, Tiziana, Matricardi, Sara, Freri, Elena, Ragona, Francesca, Papetti, Laura, Suppiej, Agnese, Valeriani, Massimiliano, Sartori, Stefano, Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis, Bonuccelli, A, Beccaria, F, Buechner, S, Buratti, S, Cantalupo, G, Cappellari, A, Casellato, S, Cesaroni, E, Cimaz, R, Cordelli, Dm, Costa, P, Dell'Avvento, S, Dilena, R, Falsaperla, R, Foiadelli, T, Frigo, Ac, Fusco, L, Giacobbe, A, Giannotta, M, Grazian, L, Maggio, Mc, Mancardi, Mm, Melis, M, Natali Sora MG, Orsini, A, Petruzzellis, A, Pini, A, Pruna, D, Santangelo, G, Savasta, S, Scaduto, Mc, Serino, D, Simula, D, Solazzi, R, Sotgiu, S, Splendiani, A, Toldo, I, Vigevano, F, Viri, M, Visconti, P, Zamponi, N, Zanus, C, Zoccarato, M, Zuliani, L, Nosadini M., Granata T., Matricardi S., Freri E., Ragona F., Papetti L., Suppiej A., Valeriani M., Sartori S., Bonuccelli A., Beccaria F., Buechner S., Buratti S., Cantalupo G., Cappellari A., Casellato S., Cesaroni E., Cimaz R., Cordelli D.M., Costa P., Dell'Avvento S., Dilena R., Falsaperla R., Foiadelli T., Frigo A.C., Fusco L., Giacobbe A., Giannotta M., Grazian L., Maggio M.C., Mancardi M.M., Melis M., Natali Sora M.G., Orsini A., Petruzzellis A., Pini A., Pruna D., Santangelo G., Savasta S., Scaduto M.C., Serino D., Simula D., Solazzi R., Sotgiu S., Splendiani A., Toldo I., Vigevano F., Viri M., Visconti P., Zamponi N., Zanus C., Zoccarato M., and Zuliani L.
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Male ,030506 rehabilitation ,Gastroenterology ,Cohort Studies ,0302 clinical medicine ,Retrospective Studie ,Modified Rankin Scale ,Recurrence ,Risk Factors ,Child ,relapse ,Anti-N-Methyl-D-Aspartate Receptor Encephalitis ,Hazard ratio ,Italy ,Child, Preschool ,Cohort ,anti‐N‐methyl‐D‐aspartate receptor encephalitis ,Female ,0305 other medical science ,Encephalitis ,Human ,Cohort study ,medicine.medical_specialty ,Adolescent ,Socio-culturale ,anti-NMDAR antibodies ,03 medical and health sciences ,anti-NMDAR ,Developmental Neuroscience ,Internal medicine ,medicine ,Humans ,Infant ,Retrospective Studies ,Preschool ,Survival analysis ,Autoimmune encephalitis ,business.industry ,Retrospective cohort study ,medicine.disease ,anti-NMDAR antibodies, autoimmune encephalitis, anti‐N‐methyl‐D‐aspartate receptor encephalitis ,autoimmune encephalitis ,Anti-N-methyl-D-aspartate receptor encephalitis, anti-NMDAR, autoimmune encephalitis, relapse ,Anti-N-Methyl-D-Aspartate Receptor Encephaliti ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Cohort Studie ,business ,030217 neurology & neurosurgery - Abstract
Aim: To identify factors that may predict and affect the risk of relapse in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Method: This was a retrospective study of an Italian cohort of patients with paediatric (≤18y) onset anti-NMDAR encephalitis. Results: Of the 62 children included (39 females; median age at onset 9y 10mo, range 1y 2mo–18y; onset between 2005 and 2018), 21 per cent relapsed (median two total events per relapsing patient, range 2–4). Time to first relapse was median 31.5months (range 7–89mo). Severity at first relapse was lower than onset (median modified Rankin Scale [mRS] 3, range 2–4, vs median mRS 5, range 3–5; admission to intensive care unit: 0/10 vs 3/10). At the survival analysis, the risk of relapsing was significantly lower in patients who received three or more different immune therapies at first disease event (hazard ratio 0.208, 95% confidence interval 0.046–0.941; p=0.042). Neurological outcome at follow-up did not differ significantly between patients with relapsing and monophasic disease (mRS 0–1 in 39/49 vs 12/13; p=0.431), although follow-up duration was significantly longer in relapsing (median 84mo, range 14–137mo) than in monophasic patients (median 32mo, range 4–108mo; p=0.002). Interpretation: Relapses may occur in about one-fifth of children with anti-NMDAR encephalitis, are generally milder than at onset, and may span over a long period, although they do not seem to be associated with severity in the acute phase or with outcome at follow-up. Aggressive immune therapy at onset may reduce risk of relapse. What this paper adds: Relapses of anti-N-methyl-D-aspartate receptor encephalitis may span over a long period. Relapses were not associated with severity in the acute phase or outcome at follow-up. Aggressive immune therapy at onset appears to decrease risk of relapse.
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- 2019
6. NEW OBSERVATIONAL AND CLINICAL METHODS IN THE TREATMENT OF DEVELOPMENTAL AGE PSYCHOPATHOLOGY
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Gatta, M., Miscioscia, M., Svanellini, L., Sisti, M., Sudati, L., Comis, I., Toldo, I., Battistella, P. A., and Simonelli, A.
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- 2018
7. Manuale di neuropsichiatria infantile e dell'adolescenza
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Battistella, P. A., Toldo, I., De Carlo, D., Sartori, S., and Gatta, M.
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- 2018
8. Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort
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Falsaperla, R, Vari, Ms, Toldo, I, Murgia, A, Sartori, S, Vecchi, M, Suppiej, A, Burlina, A, Mastrangelo, M, Leuzzi, V, Marchiani, V, De Liso, P, Capovilla, G, Striano, P, Vitaliti, G, and Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia, Pediatrica).
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Male ,medicine.medical_specialty ,Pediatrics ,Neurology ,Adolescent ,medicine.medical_treatment ,Cohort ,Dependent epilepsies ,Diagnosis ,Observational study ,Pediatric age ,Pyridoxine ,Treatment ,Anticonvulsants ,Child ,Child, Preschool ,Cohort Studies ,Epilepsy ,Female ,Humans ,Infant ,Retrospective Studies ,Seizures ,Vitamin B Complex ,Biochemistry ,NO ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Pathognomonic ,030225 pediatrics ,Medicine ,Preschool ,Adverse effect ,business.industry ,Retrospective cohort study ,Anticonvulsant ,pyridoxine ,dependent epilepsies ,diagnosis ,treatment ,pediatric age ,observational study ,cohort ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
The aim of our study was to describe the clinical, electroencephalogram, molecular findings and the diagnostic and therapeutic flow-chart of children with pyridoxine-dependent epilepsies (PDEs). We performed a retrospective observational study on children with PDEs, diagnosed and followed-up in Italian Pediatric Departments. In each centre, the authors collected data from a cohort of children admitted for intractable seizures, responsive to pyridoxine administration and resistant to other anticonvulsant therapies. Data were retrospectively analysed from January 2016 to January 2017. Sixteen patients (13 males, and 3 females) were included. We found that 93.75% of patients underwent conventional anticonvulsant therapy before starting pyridoxine administration and 62.5% had ex-juvantibus diagnosis, as specific serum diagnostic tests had been performed in only 37.5% of patients by alpha-AASA and pipecolic acid blood and urine dosage. The most common type of seizure was generalized tonic-clonic in 7 patients and the most common EEG pattern was characterized by a "burst suppression" pattern. Before pyridoxine administration, other anticonvulsant drugs were used in 93.75% of patients, with consequent onset of drug-resistance. Phenobarbital was the most frequently used drug as first-line treatment. The importance of our study relies on the need of a deeper knowledge of PDEs in terms of early diagnosis, avoiding incorrect treatment and related adverse events, clinical and EEG pathognomonic features, and genetic aspects of the disease.
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- 2017
9. Neuroimaging Changes in Menkes Disease, Part 1
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Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, and Zennaro, F.
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Menkes disease, neuroimaging, MRI ,Male ,Pathology ,medicine.medical_specialty ,vascular abnormalities ,Neuroimaging ,Disease ,Pediatrics ,030218 nuclear medicine & medical imaging ,White matter ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Menkes Kinky Hair Syndrome ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Brain ,Magnetic resonance imaging ,Retrospective cohort study ,Menkes disease ,medicine.disease ,White matter changes ,Magnetic Resonance Imaging ,White Matter ,X-linked disorder ,myelination delay ,medicine.anatomical_structure ,myelination delay, vascular abnormalities, X-linked disorder, copper metabolism ,Disease Progression ,Female ,copper metabolism ,Neurology (clinical) ,business ,Neuroscience ,030217 neurology & neurosurgery ,MRI - Abstract
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.
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- 2017
10. Neuroimaging Changes in Menkes Disease, Part 2
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Manara, R, Rocco, M C, D'Agata, L, Cusmai, R, Freri, E, Giordano, L, Darra, F, Procopio, E, Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Pinelli, L, Dionisi-Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, G, and Zennara, F
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Child abuse ,Male ,Pathology ,medicine.medical_specialty ,Neuroimaging ,Disease ,Pediatrics ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,gray matter changes, X-linked disorder, copper metabolism, neurodegeneration, basal ganglia lesions, subdural collections ,Basal ganglia ,Medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Gray Matter ,Child ,Menkes Kinky Hair Syndrome ,Retrospective Studies ,gray matter changes ,medicine.diagnostic_test ,business.industry ,neurodegeneration ,Brain ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,basal ganglia lesions ,subdural collections ,X-linked disorder ,Menkes disease ,Neurology (clinical) ,copper metabolism ,Differential diagnosis ,business ,030217 neurology & neurosurgery ,Rare disease - Abstract
This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.
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- 2017
11. Nutraceuticals and herbs in the treatment of pediatric primary headaches in 11th European Headache Federation Congress jointly with 31st Congress of the Italian Society for the Study of Headaches : Rome, Italy. 01-03 December 2017
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Piretti, E, Toldo, I, Rossaro, Mp, Sartori, S, Gatta, M, Nosadini, M, and Battistella, Pa
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TENSION-TYPE ,DOUBLE-BLIND ,MELATONIN ,HEADACHE ,MIGRAINE ,MAGNESIUM ,CHILDREN ,COENZYME Q10 ,PREVENTION ,PROPHYLAXIS ,TENSION-TYPE, HEADACHE, DOUBLE-BLIND, DOSE RIBOFLAVIN, MIGRAINE, PROPHYLAXIS, CHILDREN,COENZYME Q10, PREVENTION, MELATONIN, MAGNESIUM ,DOSE RIBOFLAVIN - Published
- 2017
12. Erratum to: Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement (Neuroradiology, (2017), 59, 3, (305-316), 10.1007/s00234-017-1795-1)
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Brotto, D., Manara, R., Ghiselli, S., Lovo, E., Mardari, R., Toldo, I., Castiglione, A., Schifano, G., Stritoni, V., Bovo, R., Trevisi, P., and Martini, A.
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- 2017
13. Long-term outcome of epilepsy in patients with prader–willi syndrome
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Verrotti A, Cusmai R, Laino D, CAROTENUTO, Marco, ESPOSITO, Maria, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belacastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A., Verrotti, A, Cusmai, R, Laino, D, Carotenuto, Marco, Esposito, Maria, Falsaperla, R, Margari, L, Rizzo, R, Savasta, S, Grosso, S, Striano, P, Belacastro, V, Franzoni, E, Curatolo, P, Giordano, L, Freri, E, Matricardi, S, Pruna, D, Toldo, I, Tozzi, E, Lobefalo, L, Operto, F, Altobelli, E, Chiarelli, F, and Spalice, A.
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Epilepsy ,Prader–Willi syndrome ,EEG ,Long term outcome - Abstract
Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy. Prader–Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader–Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader–Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic– clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader–Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
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- 2015
14. Pediatric moyamoya disease and syndrome in Italy: Data from the Italian Society of Pediatric Neurology multicentric retrospective study
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Sartori, S., primary, Po', C., additional, Carai, A., additional, Rosati, A., additional, Accorsi, P., additional, Iodice, A., additional, Savasta, S., additional, D'Avella, D., additional, Greco, F., additional, Raviglione, F., additional, Ragazzi, P., additional, Agostini, M., additional, Cesaroni, E., additional, Di Rosa, G., additional, Striano, P., additional, Nicita, F., additional, Cordelli, D., additional, Suppiej, A., additional, Nosadini, M., additional, Marras, C.E., additional, and Toldo, I., additional
- Published
- 2017
- Full Text
- View/download PDF
15. Neuroimaging Changes in Menkes Disease, Part 2
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Manara, R., primary, Rocco, M.C., additional, D'agata, L., additional, Cusmai, R., additional, Freri, E., additional, Giordano, L., additional, Darra, F., additional, Procopio, E., additional, Toldo, I., additional, Peruzzi, C., additional, Vittorini, R., additional, Spalice, A., additional, Fusco, C., additional, Nosadini, M., additional, Longo, D., additional, and Sartori, S., additional
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- 2017
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16. A case of neonatal onset leucoencefalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression
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Boscardin, C., Sartori, S., Mardari, R., Talenti, G., Suppiej, A, and Toldo, I.
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NO - Published
- 2015
17. Congenital absence of gluteal muscles without spina bifida occulta: the first case report
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Vigo, G., Toldo, I., De Grandis, D., Beltrame, V., Sartori, S., and Suppiej, A
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Socio-culturale - Published
- 2015
18. Hemiplegic migraine: with onset in childhood:the first multicenter study
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Toldo, I., Rattin, M., Pelizza, M. F., Moscano, F., Tozzi, Elisabetta, Verrotti, A., Carotenuto, M., Lisotto, C., Ruffatti, S., Termine, C., Maggioni, F., Battistella, P. A., and S. S. A. R. T. O. R., I.
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- 2015
19. Psychotherapy and Lausanne Trilogue Play: A Case Report
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Gatta, M, primary, Stucchi, M, additional, Svanellini, L, additional, Toldo, I, additional, Difronzo, M, additional, Sudati, L, additional, and Ferruzza, E, additional
- Published
- 2016
- Full Text
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20. Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication
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Verrotti, A., primary, Laino, D., additional, Rinaldi, V. E., additional, Suppiej, A., additional, Giordano, L., additional, Toldo, I., additional, Margari, L., additional, Parisi, P., additional, Rizzo, R., additional, Matricardi, S., additional, Cusmai, R., additional, Grosso, S., additional, Gaggero, R., additional, Zamponi, N., additional, Pavone, P., additional, Capovilla, G., additional, Rauchenzauner, M., additional, Cerminara, C., additional, Di Gennaro, G., additional, Esposito, M., additional, Striano, P., additional, Savasta, S., additional, Coppola, G., additional, Siliquini, S., additional, Operto, F., additional, Belcastro, V., additional, Ragona, F., additional, Marseglia, G. L., additional, and Spalice, A., additional
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- 2015
- Full Text
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21. PP13.1 – 2834: Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series
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Sartori, S., primary, Pelizza, M.F., additional, Nosadini, M., additional, Cesaroni, E., additional, Falsaperla, R., additional, Capovilla, G., additional, Mancardi, M.M., additional, Santangelo, G., additional, Cantalupo, G., additional, Cappellari, A., additional, Costa, P., additional, Bernardina, B. Dalla, additional, Dilena, R., additional, Pruna, D., additional, Serino, D., additional, Vanadia, E., additional, Vigevano, F., additional, Zanus, C., additional, Toldo, I., additional, and Suppiej, A., additional
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- 2015
- Full Text
- View/download PDF
22. PP04.12 – 3020: Chromosomal rearrangements of 6p25.3 and Moyamoya syndrome: A non-incidental association
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Po, C., primary, Suppiej, A., additional, Causin, F., additional, Talenti, G., additional, D'Avella, D., additional, Sartori, S., additional, and Toldo, I., additional
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- 2015
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23. P133 – 2909: Hemiplegic migraine with onset in childhood: The first multicenter Italian study
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Toldo, I., primary, Rattin, M., additional, Pelizza, M.F., additional, Moscano, F., additional, Tozzi, E., additional, Verrotti, A., additional, Carotenuto, M., additional, Lisotto, C., additional, Ruffatti, S., additional, Termine, C., additional, Maggioni, F., additional, Battistella, P.A., additional, and Sartori, S., additional
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- 2015
- Full Text
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24. PP05.15 – 2915: A case of neonatal onset leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression
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Boscardin, C., primary, Sartori, S., additional, Mardari, R., additional, Suppiej, A., additional, and Toldo, I., additional
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- 2015
- Full Text
- View/download PDF
25. PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report
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Vigo, G., primary, Toldo, I., additional, De Grandis, D., additional, Beltrame, V., additional, Sartori, S., additional, and Suppiej, A., additional
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- 2015
- Full Text
- View/download PDF
26. Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum
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Manara, R., primary, Brotto, D., additional, Ghiselli, S., additional, Mardari, R., additional, Toldo, I., additional, Schifano, G., additional, Cantone, E., additional, Bovo, R., additional, and Martini, A., additional
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- 2015
- Full Text
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27. Plasma exchange in pediatric anti-NMDAR encephalitis: A systematic review.
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Suppiej, A., Nosadini, M., Zuliani, L., Pelizza, M. F., Toldo, I., Bertossi, C., Tison, T., Zoccarato, M., Marson, P., Giometto, B., Dale, R. C., and Sartori, S.
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TREATMENT of encephalitis , *PLASMA exchange (Therapeutics) , *METHYL aspartate receptors , *IMMUNOTHERAPY , *DRUG administration , *SYSTEMATIC reviews - Abstract
OBJECTIVE: To clarify the most frequent modalities of use of plasma exchange (PE) in pediatric anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis and to establish the most effective association with other immunotherapies. METHODS: Systematic literature review on PE in pediatric anti-NMDAR encephalitis (2007-2015). RESULTS: Seventy-one articles were included (mostly retrospective), reporting a total of 242 subjects (73.2%, 93/127 females; median age at onset 12years, range 1-18). Median time to immunotherapy was 21days (range 0-190). In most cases, PE was given with steroids and IVIG (69.5%, 89/128), or steroids only (18%, 23/128); in a minority, it was associated with IVIG only (7%, 9/128), or was the only first-line treatment (5.5%, 7/128). In 54.5% (65/119), PE was the third treatment after steroids and IVIG, in 31.1% (37/119) the second after steroids or IVIG; only in 14.3% (17/119) was it the first treatment. Second-line immunotherapies were administered in 71.9% (100/139). Higher rates of full/substantial recovery at follow-up were observed with immunotherapy given ?30days from onset (69.4%, 25/36) compared to later (59.2%, 16/27), and when PE was associated with steroids (66.7%, 70/105) rather than not (46.7%, 7/15). Significant adverse reactions to PE were reported in 6 patients. CONCLUSION: Our review disclosed a paucity of quality data on PE in pediatric anti-NMDAR encephalitis. PE use in this condition has been increasingly reported, most often with steroids and IVIG. Despite the limited number of patients, our data seem to confirm the trend towards a better outcome when PE was administered early, and when given with steroids. [ABSTRACT FROM AUTHOR]
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- 2016
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28. I stay at home with headache. A survey to investigate how the lockdown for COVID-19 impacted on headache in Italian children
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Matteo Battisti, Agnese Onofri, Noemi Faedda, Samuela Tarantino, Pierfrancesco Alaimo Di Loro, Paola Verdecchia, Federico Vigevano, Licia Grazzi, Vincenzo Raieli, Vittorio Sciruicchio, Maria Federica Pelizza, Michela An Ferilli, Massimiliano Valeriani, Fabiana Ursitti, Giulia Natalucci, Elisabetta Tozzi, Vincenzo Guidetti, Romina Moavero, Daniela D'Agnano, Margherita Velardi, Giovanni Grillo, Irene Toldo, Angela Celi, Pasquale Parisi, Cristiano Termine, Martina Balestri, Michelangelo Vasta, Marco Carotenuto, Laura Papetti, Papetti, L., Loro, P. A. D., Tarantino, S., Grazzi, L., Guidetti, V., Parisi, P., Raieli, V., Sciruicchio, V., Termine, C., Toldo, I., Tozzi, E., Verdecchia, P., Carotenuto, M., Battisti, M., Celi, A., D'Agnano, D., Faedda, N., Ferilli, M. A. N., Grillo, G., Natalucci, G., Onofri, A., Pelizza, M. F., Ursitti, F., Vasta, M., Velardi, M., Balestri, M., Moavero, R., Vigevano, F., and Valeriani, M.
- Subjects
Male ,Anxiety ,lockdown ,0302 clinical medicine ,COVID-19 ,lifestyle ,migraine ,adolescent ,anxiety ,betacoronavirus ,child ,female ,headache ,humans ,Italy ,male ,SARS-CoV-2 ,social isolation ,surveys and questionnaires ,coronavirus infections ,life style ,pandemics ,pneumonia ,viral ,Surveys and Questionnaires ,Medicine ,Surveys and Questionnaire ,030212 general & internal medicine ,Viral ,Social isolation ,Child ,education.field_of_study ,Headache ,General Medicine ,Settore MED/39 ,pneumonia, viral ,covid-19 ,Social Isolation ,Female ,medicine.symptom ,Coronavirus Infections ,medicine.drug ,Human ,Topiramate ,medicine.medical_specialty ,Coronavirus disease 2019 (COVID-19) ,Adolescent ,Population ,Pneumonia, Viral ,03 medical and health sciences ,Betacoronavirus ,Humans ,education ,Psychiatry ,Pandemics ,Life Style ,Migraine ,Special Section Articles ,Betacoronaviru ,Pandemic ,business.industry ,Coronavirus Infection ,Pneumonia ,medicine.disease ,Mood ,Etiology ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Objective 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. Answers were transformed into data for statistical analysis. Through a bivariate analysis, the main variables affecting the subjective trend of headache, and intensity and frequency of the attacks were selected. The significant variables were then used for the multivariate analysis. Results We collected the answers of 707 patients. In the multivariate analysis, we found that reduction of school effort and anxiety was the main factor explaining the improvement in the subjective trend of headache and the intensity and frequency of the attacks ( p 0.05), presence of chronic headache disorders ( p > 0.05) and geographical area ( p > 0.05). Conclusions Our study showed that lifestyle modification represents the main factor impacting the course of primary headache disorders in children and adolescents. In particular, reduction in school-related stress during the lockdown was the main factor explaining the general headache improvement in our population.
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- 2020
29. Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches
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Sergio Zanini, Agnese Maria Tamborino, Vittorio Sciruicchio, Barbara Bolzonella, Maria Giuseppina Ledda, Irene Toldo, Pier Antonio Battistella, Stefano Sartori, Vincenzo Raieli, Michela Gatta, Lucia Margari, Alberto Verrotti, A Vecchio, Margherita Santucci, D De Carlo, De Carlo D., Toldo I., Tamborino A.M., Bolzonella B., Ledda M.G., Margari L., Raieli V., Santucci M., Sciruicchio V., Vecchio A., Zanini S., Sartori S., Gatta M., Verrotti A., and Battistella P.A.
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Male ,Pediatrics ,Neurology ,Photophobia ,Aircraft ,Headache Disorder ,lcsh:Medicine ,Airplane ,0302 clinical medicine ,Surveys and Questionnaires ,Surveys and Questionnaire ,030212 general & internal medicine ,Child ,Children ,Aeroplane travel ,Pain Measurement ,Travel ,ICHD-III ,Headache ,General Medicine ,Pediatric headache ,Phonophobia ,Italy ,Child, Preschool ,Female ,medicine.symptom ,Research Article ,Human ,Adult ,medicine.medical_specialty ,Adolescent ,Headache Disorders ,03 medical and health sciences ,Primary headache ,Primary headaches ,medicine ,Humans ,Preschool ,business.industry ,lcsh:R ,Mean age ,Anesthesiology and Pain Medicine ,Concomitant ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Paediatric population - Abstract
BACKGROUND: This multicentric survey investigates the prevalence and characteristics of Airplane Headache in children affected by primary headaches. METHODS: Patients with symptoms of Airplane Headache were recruited from nine Italian Pediatric Headache Centres. Each patient was handed a structured questionnaire which met the ICHD-III criteria. RESULTS: Among 320 children suffering from primary headaches who had flights during their lifetime, 15 (4.7%) had Airplane Headache, with mean age of 12.4years. Most of the patients were females (80%). The headache was predominantly bilateral (80%) and localized to the frontal area (60%); it was mainly pulsating, and lasted less than 30min in all cases. Accompanying symptoms were tearing, photophobia, phonophobia in most of the cases (73.3%). More than 30% of patients used medications to treat the attacks, with good results. CONCLUSION: Our study shows that Airplane Headache is not a rare disorder in children affected by primary headaches and highlights that its features in children are peculiar and differ from those described in adults. In children Airplane Headache prevails in females, is more often bilateral, has frequently accompanying symptoms and occurs at any time during the flight. Further studies are needed to confirm the actual frequency of Airplane Headache in the general pediatric population not selected from specialized Headache Centres, with and without other concomitant headache condition, and to better clarify the clinical characteristics, pathophysiology and potential therapies.
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- 2018
30. Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum
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Giovanni Schifano, Roberto Bovo, Elena Cantone, Sara Ghiselli, Davide Brotto, Irene Toldo, Alessandro Martini, Renzo Manara, Rodica Mardari, Manara, R, Brotto, D, Ghiselli, S, Mardari, R, Toldo, I, Schifano, G, Cantone, E, Bovo, Ylenia, and Martini, A
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Goldenhar syndrome ,Inferior alveolar nerve ,Cranial Nerve ,Pediatrics ,Young Adult ,Goldenhar Syndrome ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Child ,Diplopia ,business.industry ,Microtia ,Cranial nerves ,Cranial Nerves ,Infant, Newborn ,Infant ,Aplasia ,Anatomy ,medicine.disease ,Magnetic Resonance Imaging ,Facial nerve ,Hemifacial microsomia ,Phenotype ,Child, Preschool ,Female ,Neurology (clinical) ,medicine.symptom ,Tomography, X-Ray Computed ,business ,Human - Abstract
BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients. MATERIALS AND METHODS: Twenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2–31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome). RESULTS: Cranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006). CONCLUSIONS: Among patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.
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- 2015
31. Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication
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Ve E. Rinaldi, Giangennaro Coppola, M. Rauchenzauner, Salvatore Savasta, Renata Rizzo, Pasquale Parisi, L. Giordano, Francesca Ragona, Lucia Margari, R. Gaggero, G.L. Marseglia, Pasquale Striano, Giuseppe Capovilla, G. Di Gennaro, Daniela Laino, Vincenzo Belcastro, Alberto Spalice, Maria Esposito, Salvatore Grosso, Francesca Felicia Operto, Nelia Zamponi, Piero Pavone, S. Siliquini, Raffaella Cusmai, Agnese Suppiej, Alberto Verrotti, Irene Toldo, Sara Matricardi, Caterina Cerminara, Verrotti, A, Laino, D., Rinaldi, V. E., Suppiej, A., Giordano, L., Toldo, I., Margari, L., Parisi, P., Rizzo, R., Matricardi, S., Cusmai, R., Grosso, S., Gaggero, R., Zamponi, N., Pavone, P., Capovilla, G., Rauchenzauner, M., Cerminara, C., Di Gennaro, G., Esposito, Maria, Striano, P., Savasta, S., Coppola, G., Siliquini, S., Operto, F., Belcastro, V., Ragona, F., Marseglia, G. L., and Spalice, A.
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Male ,Pediatrics ,Neurology ,Epilepsy ,0302 clinical medicine ,Retrospective Studie ,Outcome Assessment, Health Care ,Anticonvulsant ,EEG ,Family history ,Child ,Outcome ,Generalized epilepsy ,antiepileptic therapy ,focal epilepsy ,Focal epilepsy ,Electroencephalography ,Prognosis ,Austria ,Child, Preschool ,Anticonvulsants ,Female ,Occipital Lobe ,Antiepileptic therapy ,Idiopathic occipital epilepsy ,Human ,Adult ,medicine.medical_specialty ,Adolescent ,Prognosi ,Humans ,Infant ,Retrospective Studies ,Young Adult ,Lennox Gastaut Syndrome ,Outcome Assessment (Health Care) ,Neurology (clinical) ,NO ,03 medical and health sciences ,030225 pediatrics ,medicine ,Preschool ,business.industry ,Retrospective cohort study ,medicine.disease ,eeg ,generalized epilepsy ,idiopathic occipital epilepsy ,outcome ,Migraine ,business ,Occipital lobe ,030217 neurology & neurosurgery ,Lennox–Gastaut syndrome - Abstract
Background and purpose: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. Methods: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. Results: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. Conclusions: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.
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- 2016
32. PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.
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Favaro J, Iodice A, Nosadini M, Asta F, Toldo I, Ancona C, Cavaliere E, Pelizza MF, Casara G, Parmeggiani L, and Sartori S
- Abstract
Purpose: The objective of this study is to characterize the electro-clinical phenotype of individuals affected by the rare PPP3CA gene-related developmental and epileptic encephalopathy (DEE)., Methods: We provide a detailed electro-clinical description of four previously unreported subjects, with unremarkable structural brain MRI and a normal screening for inborn errors of metabolism, who carry pathogenic variants within the regulatory domain of the PPP3CA gene, which encodes for calcineurin. We also conducted a literature review via PubMed and SCOPUS (up to December 2023) to collect all the studies reporting clinical details of subjects with PPP3CA pathogenic variants within the regulatory domain., Results: Our in-depth investigation reveals two distinct electro-clinical phenotypes with unique interictal and ictal patterns. Pathogenic variants within the calmodulin-binding domain result in childhood-onset epilepsy with focal and generalized seizures, developmental and intellectual impairments. Pathogenic variants within the regulatory domain lead to early onset drug-resistant severe epilepsy and potentially fatal outcomes. Comparative analysis with existing literature corroborates the notion that truncating mutations, prevalent in the regulatory domain but also possible in the calmodulin-binding domain, consistently associate with more profound disabilities and drug-resistant epilepsy., Conclusion: Our study emphasizes the critical role of pathogenic variants' type and location on the severity of PPP3CA-related DEE. We also speculate, based on peculiar EEG patterns, on potential pathophysiological mechanisms involving calcineurin dysfunction and calcium homeostasis. In order to improve our understanding of this rare DEE, we need both collaborative efforts to gather larger cohorts and further experimental studies., Competing Interests: Declaration of competing interest None of the authors has any conflict of interest to disclose., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)
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- 2024
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33. Cerebral venous thrombosis and deep medullary vein thrombosis: Padua experience over the last two decades.
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Cavicchiolo ME, Brigiari G, Nosadini M, Pin JN, Vincenti A, Toldo I, Ancona C, Simioni P, D Errico I, Baraldi E, and Sartori S
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- Humans, Male, Female, Infant, Newborn, Italy epidemiology, Risk Factors, Magnetic Resonance Imaging, Registries, Retrospective Studies, Incidence, Prevalence, Intracranial Thrombosis epidemiology, Intracranial Thrombosis diagnosis, Intracranial Thrombosis etiology, Venous Thrombosis epidemiology, Venous Thrombosis diagnosis, Venous Thrombosis etiology
- Abstract
Background: Cerebral venous thrombosis (CVT) is a cerebrovascular disorder that accounts for 20% of perinatal strokes. CVT incidence ranges from 0.67 to 1.12 per 100,000 newborns, while the incidence of "deep medullary vein thrombosis" (DMVT), a subtype of CVT, cannot be accurately estimated. This study aims to analyze the case history of CVT in the neonatal period, with a specific focus on DMVT., Materials and Methods: Newborns diagnosed with CVT, with or without DMVT, between January 2002 and April 2023, were collected using the Italian Registry of Infantile Thrombosis (RITI). Cerebral MRIs were reviewed by an expert neuroradiologist following a standardized protocol., Results: Forty-two newborns with CVT were identified, of which 27/42 (64%) had CVT, and the remaining 15/42 (36%) had DMVT (isolated DMVT in 9/15). Symptom onset occurred in the first week of life (median 8 days, IQR 4-14) with a male prevalence of 59%. The most common risk factors for CVT were complicated delivery (38%), prematurity (40%), congenital heart diseases (48%), and infections (40%). Seizures were the predominant presenting symptom in 52% of all cases. Hemorrhagic infarction was higher in cases with isolated DMVT (77%) compared to patients with CVT without DMVT (p = 0.013). Antithrombotic treatment was initiated in 36% of patients. Neurological impairment was observed in 48% of cases at discharge, while 18 out of 31 infants (58%) presented one or more neurological deficits at long term follow up. Conclusion: DMVT occurs in over a third of neonates with CVT. Multicentric studies are essential to establish standardized protocols for therapy, neuroimaging, and follow-up in these patients., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2024
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34. Primary Stabbing Headache in Children and Adolescents.
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Reimers M, Bonemazzi I, Brunello F, Cavaliere E, Sartori S, and Toldo I
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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., Results: A total of 12 out of 162 articles assessed for eligibility were finally included. The prevalence of PSH and probable PSH varies from 2.5 to 10% among children with primary headaches and it is higher among children aged less than 6 years old. The mean age of onset is between 7 and 11 years of age. Attack duration greatly varies, ranging from a few seconds to several minutes. The intensity of pain is usually from moderate to severe. Associated symptoms are infrequent but may be observed (mainly photophobia, vertigo, nausea, and vomiting). Neuroradiological findings are usually unremarkable; EEG may show sporadic epileptiform abnormalities (up to 30% of cases). Preventive therapy is anecdotal, including treatment with indomethacin, trazodone, valproate, and amitriptyline., Conclusion: PSH is a common but still underdiagnosed entity among children with primary headaches; further and larger cohort studies are needed to better assess, in particular, prognosis and response to therapy.
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- 2024
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35. Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.
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Ancora C, Marchi M, Bonardi CM, Sartori G, Lopreiato R, Zuccarello D, D'Errico I, Nosadini M, Sartori S, Boniver C, Toldo I, and Salviati L
- Abstract
Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death. The administration of sirolimus, an mTOR inhibitor, is helpful in controlling seizures in this syndrome. We report the electroclinical phenotype of two novel patients and the development of a yeast model to validate the pathogenicity of missense variants. Patient 1 harbored a missense STRADA variant and had a peculiar electroclinical phenotype with a relatively mild epilepsy course. Patient 2 harbored a truncating STRADA variant and showed a typical PMSE phenotype and a favorable response to early treatment with sirolimus. When we modeled the p.(Ser264Arg) STRADA change in its yeast homolog SPS1, it impaired SPS1 function. The results underlie the importance of a timely molecular diagnosis in these patients and show that yeast is a simple yet effective model to validate the pathogenicity of missense variants., Competing Interests: Declaration of competing interest Leonardo Salviati reports financial support was provided by Città della Speranza Pediatric Research Institute. The remaining authors declare that there are no conflicts of interests regarding the publication of this article., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2023
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36. Treatment of Frequent or Chronic Primary Headaches in Children and Adolescents: Focus on Acupuncture.
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Bonemazzi I, Nosadini M, Pelizza MF, Paolin C, Cavaliere E, Sartori S, and Toldo I
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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., Methods: This is a narrative review based on eight studies selected from 135 papers including pediatric cases treated with acupuncture for headache., Results: Despite the differences in tools, procedures, and application sites, acupuncture demonstrated a positive effect on both the frequency and intensity of headaches and was well tolerated. There are no studies considering the long-term efficacy of acupuncture., Conclusion: Further additional studies are needed on acupuncture in children and adolescents, with larger series and standardized procedures, in order to better assess efficacy, tolerability, and long-term prognosis and to define guidelines for the use of this promising and safe treatment. It is particularly relevant to identify safe and well-tolerated treatment options in pediatric patients affected by recurrent and debilitating headaches.
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- 2023
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37. The maturation of aperiodic EEG activity across development reveals a progressive differentiation of wakefulness from sleep.
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Favaro J, Colombo MA, Mikulan E, Sartori S, Nosadini M, Pelizza MF, Rosanova M, Sarasso S, Massimini M, and Toldo I
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- Adult, Child, Infant, Adolescent, Humans, Electroencephalography, Sleep Stages physiology, Brain physiology, Wakefulness physiology, Sleep physiology
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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. Specifically, we parameterized the shape of the aperiodic background of the EEG Power Spectral Density (PSD) by means of the spectral exponent and offset; the exponent reflects the rate of exponential decay of power over increasing frequencies and the offset reflects an estimate of the y-intercept of the PSD. We found that sleep and development caused the EEG-PSD to rotate over opposite directions: during wakefulness the PSD showed a flatter decay and reduced offset over development, while during sleep it showed a steeper decay and a higher offset as sleep becomes deeper. During deep sleep (N2, N3) only the spectral offset decreased over age, indexing a broad-band voltage reduction. As a result, the difference between values in deep sleep and those in both light sleep (N1) and wakefulness increased with age, suggesting a progressive differentiation of wakefulness from sleep EEG activity, most prominent over the frontal regions, the latest to complete maturation. Notably, the broad-band spectral exponent values during deep sleep stages were entirely separated from wakefulness values, consistently across developmental ages and in line with previous findings in adults. Concerning topographical development, the location showing the steepest PSD decay and largest offset shifted from posterior to anterior regions with age. This shift, particularly evident during deep sleep, paralleled the migration of sleep slow wave activity and was consistent with neuroanatomical and cognitive development. Overall, aperiodic EEG activity distinguishes wakefulness from sleep regardless of age; while, during development, it reveals a postero-anterior topographical maturation and a progressive differentiation of wakefulness from sleep. Our study could help to interpret changes due to pathological conditions and may elucidate the neurophysiological processes underlying the development of wakefulness and sleep., Competing Interests: Declaration of Competing Interest Marcello Massimini is co-founder of Intrinsic Powers, a spin-off of the University of Milan; Simone Sarasso and Mario Rosanova are advisors of the same company. All other Authors do not have any conflict of interest., (Copyright © 2023. Published by Elsevier Inc.)
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- 2023
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38. Efficacy and safety of ketamine for neonatal refractory status epilepticus: case report and systematic review.
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Pin JN, Leonardi L, Nosadini M, Cavicchiolo ME, Guariento C, Zarpellon A, Perilongo G, Raffagnato A, Toldo I, Baraldi E, and Sartori S
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Background: 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. The search was carried out in Pubmed, Cochrane, Clinical Trial Gov, Scopus and Web of Science., Results: Seven published cases of neonatal SE treated with ketamine were identified and analyzed together with our novel case. Seizures typically presented during the first 24 h of life (6/8). Seizures were resistant to a mean of five antiseizure medications. Ketamine, a NMDA receptor antagonist, appeared to be safe and effective in all neonates treated. Neurologic sequelae including hypotonia and spasticity were reported for 4/5 of the surviving children (5/8). 3/5 of them were seizure free at 1-17 months of life., Discussion: Neonatal brain is more susceptible to seizures due to a shift towards increased excitation because of a paradoxical excitatory effect of GABA, a greater density of NMDA receptors and higher extracellular concentrations of glutamate. Status epilepticus and neonatal encephalopathy could further enhance these mechanisms, providing a rationale for the use of ketamine in this setting., Conclusions: Ketamine in the treatment of neonatal SE showed a promising efficacy and safety profile. However, further in-depth studies and clinical trials on larger populations are needed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Pin, Leonardi, Nosadini, Cavicchiolo, Guariento, Zarpellon, Perilongo, Raffagnato, Toldo, Baraldi and Sartori.)
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- 2023
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39. Hemiplegic Migraine in Children and Adolescents.
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Bonemazzi I, Brunello F, Pin JN, Pecoraro M, Sartori S, Nosadini M, and Toldo I
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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., Results: Different from HM in adults, pediatric HM affects both genders equally. Early transient neurological symptoms (prolonged aphasia during a febrile episode, isolated seizures, transient hemiparesis, and prolonged clumsiness after minor head trauma) can precede HM long before its onset. The prevalence of non-motor auras among children is lower than it is in adults. Pediatric sporadic HM patients have longer and more severe attacks compared to familial cases, especially during the initial years after disease onset, while familial HM cases tend to have the disease for longer. During follow-up, the frequency, intensity, and duration of HM attacks often decrease. The outcome is favorable in most patients; however, neurological conditions and comorbidities can be associated., Conclusion: Further studies are needed to better define the clinical phenotype and the natural history of pediatric HM and to refine genotype-phenotype correlations in order to improve the knowledge on HM physiopathology, diagnosis, and outcome.
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- 2023
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40. Myoclonic super-refractory status epilepticus with favourable evolution in a teenager with FIRES: Is the association of vagus nerve stimulation and cannabidiol effective?
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Bonardi CM, Furlanis GM, Toldo I, Guarrera B, Luisi C, Pettenazzo A, Nosadini M, Boniver C, Sartori S, and Landi A
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- Child, Female, Humans, Adolescent, Seizures complications, Cannabidiol therapeutic use, Vagus Nerve Stimulation, Status Epilepticus drug therapy, Status Epilepticus diagnosis, Drug Resistant Epilepsy diagnosis, Encephalitis complications, Immune System Diseases complications
- Abstract
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., Case Report: A previously healthy 14-year-old girl with onset of myoclonic status epilepticus after a mild febrile illness was admitted to our hospital with a diagnosis of FIRES. Extensive diagnostic work-up was inconclusive. Status epilepticus and electroclinical seizures recurred every time weaning from anaesthetic agents was attempted. Eventually, a vagal nerve stimulator (VNS) was implanted and cannabidiol (CBD) administered, 43 days and 70 days after P-SRSE onset, respectively. Two days after CBD introduction, status epilepticus weaned and the girl rapidly regained complete consciousness showing a brilliant and unexpected recovery. At last follow-up, 12 months later, she is 8-months seizure free on multiple antiseizure medications, has only mild neuropsychological impairment with no neurological and intellective deficit., Conclusions: To our knowledge, this represents a unique case with an extremely favourable evolution with a possible effect of the association of VNS and CBD to traditional antiseizure medications., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
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- 2023
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41. Cold-Stimulus Headache in Children and Adolescents.
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Bonemazzi I, Pelizza MF, Berti G, Ancona C, Nosadini M, Sartori S, and Toldo I
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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). The aim of this work is to highlight the features of CSH in children and adolescents. In children, the prevalence of CSH is higher than in adults and it is not gender-specific. There is a relevant family history for CSH and the comorbidity with migraine is significant. The triggers and clinical features of CSH due to ingesting a cold stimulus in children overlap with those in adults. CSH due to external application of a cold stimulus (or to environmentally low temperatures) is not studied in children and adolescents. We describe in detail a new pediatric case of CSH triggered by low ambient temperatures; to the best of our knowledge, this represents the first description in the literature. In conclusion, CSH in children is probably underestimated and has peculiar features compared to adults; further studies are needed to better understand its clinical features and pathophysiology.
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- 2023
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42. Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
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Toldo I, Brunello F, Cavasin P, Nosadini M, Sartori S, Frigo AC, Mai R, Pelliccia V, Mancardi MM, Striano P, Severino M, Zara F, Rizzi R, Casellato S, Di Rosa G, Mastrangelo M, Spalice A, Budetta M, De Palma L, Guerrini R, Pruna D, Cordelli DM, Sofia V, Papa A, Chiesa V, Ragona F, Parisi P, D'Aniello A, Veggiotti P, Dainese F, Giordano L, Licchetta L, Tinuper P, D'Orsi G, Cassina M, and Manara R
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- Humans, Female, Child, Male, Cross-Sectional Studies, Microtubule-Associated Proteins, Glasgow Outcome Scale, Magnetic Resonance Imaging, Classical Lissencephalies and Subcortical Band Heterotopias, Epilepsy
- Abstract
Background: 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)., Method: Cross-sectional multicenter study of a cohort of 49 patients with SBH (female n = 30, 61%), recruited from 23 Italian centers., Results: Thirty-nine of 49 (80%) cases showed high functional disability at EGOS-ped assessment. In the poor result subgroup (EGOS-ped >3) motor deficit, language impairment, and lower intelligence quotient were more frequent (P < 0.001, P = 0.02, and P = 0.01, respectively); the age at epilepsy onset was remarkably lower (P < 0.001); and the prevalence of epileptic encephalopathy (West syndrome or Lennox-Gastaut-like encephalopathy) was higher (P = 0.04). The thickness and the extension of the heterotopic band were associated with EGOS-ped score (P < 0.01 and P = 0.02). Pachygyria was found exclusively among patients with poor outcome (P < 0.01)., Conclusions: The EGOS-ped proved to be a reliable tool for stratifying the functional disability of patients with SBH. According to this score, patients could be dichotomized: group 1 (80%) is characterized by a poor overall functionality with early epilepsy onset, thick heterotopic band, and pachygyria, whereas group 2 (20%) is characterized by a good overall functionality with later epilepsy onset and thinner heterotopic band., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2023
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43. Neonatal Arterial Ischemic Stroke Secondary to Carotid Artery Dissection: A Case Report and Systematic Literature Review.
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Baggio L, Nosadini M, Pelizza MF, Pin JN, Zarpellon A, Tona C, Perilongo G, Simioni P, Toldo I, Talenti G, and Sartori S
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- Infant, Newborn, Humans, Pregnancy, Female, Cesarean Section adverse effects, Fibrinolytic Agents, Carotid Arteries pathology, Seizures diagnostic imaging, Seizures drug therapy, Seizures etiology, Ischemic Stroke complications, Stroke diagnostic imaging, Stroke etiology, Stroke therapy, Carotid Artery Diseases complications
- Abstract
Background: 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. All patients (nine of nine) were born at term, and eight of nine experienced instrumental/traumatic delivery or urgent Caesarean section. None had fetal problems during pregnancy or thrombophilia. Signs and symptoms at presentation (between days of life 0 and 6) included seizures (eight of nine), respiratory distress or irregular breathing (five of nine), hyporeactivity, decreased consciousness or irritability (four of nine), and focal neurological signs (two of nine). At magnetic resonance imaging (MRI), stroke was unilateral in seven of nine and extensive in five of nine. CA dissection was documented by neuroimaging or at postmortem studies (seven of nine), and hypothesized by the treating physicians based on delivery and neuroradiology characteristics (in the remaining two of nine). Antithrombotic treatment was used in two of nine. According to available follow-up, one of eight died at age seven days, seven of eight had neurological/epileptic sequelae, and CA recanalization occurred in three of four., Conclusions: NAIS attributed to CA dissection is rarely identified in the literature, often preceded by traumatic/instrumental delivery, presenting with seizures and systemic signs/symptoms, and often characterized by extensive MRI lesions and neurological sequelae. Definite evidence and recommendations on antithrombotic treatment are lacking., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
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- 2023
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44. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD.
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Nosadini M, Eyre M, Giacomini T, Valeriani M, Della Corte M, Praticò AD, Annovazzi P, Cordani R, Cordelli DM, Crichiutti G, Di Rosa G, Dolcemascolo V, Fetta A, Freri E, Gallo P, Gastaldi M, Granata T, Grazian L, Iorio R, Lombardini M, Margoni M, Mariotto S, Matricardi S, Melani F, Nardocci N, Papetti L, Passarini A, Pisani F, Po' C, Puthenparampil M, Ragona F, Savasta S, Siliquini S, Toldo I, Tozzo A, Turco EC, Varone A, Vogrig A, Zuliani L, Bugin S, Rossato S, Orsini A, Cantalupo G, Mancardi MM, Ferilli MAN, Foiadelli T, and Sartori S
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- Humans, Retrospective Studies, Disease Progression, Adrenal Cortex Hormones therapeutic use, Recurrence, Immunotherapy, Immunologic Factors
- Abstract
Background and Objectives: We sought to identify early factors associated with relapse and outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD)., Methods: In a multicenter retrospective cohort of pediatric MOGAD (≤18 years), onset features and treatment were compared in patients with monophasic vs relapsing disease (including cases with follow-up ≥12 months after onset or relapse at any time) and in patients with final Expanded Disability Status Scale (EDSS) 0 vs ≥1 at last follow-up (including cases with follow-up >3 months after last event or EDSS0 at any time). Multivariable logistic regression models were used to evaluate factors associated with relapsing disease course and EDSS ≥ 1 at final follow-up., Results: Seventy-five children were included (median onset age 7 years; median 30 months of follow-up). Presentation with acute disseminated encephalomyelitis was more frequent in children aged 8 years or younger (66.7%, 28/42) than in older patients (30.3%, 10/33) ( p = 0.002), whereas presentation with optic neuritis was more common in children older than 8 years (57.6%, 19/33) than in younger patients (21.4%, 9/42) ( p = 0.001). 40.0% (26/65) of patients relapsed. Time to first relapse was longer in children aged 8 years or younger than in older patients (median 18 vs 4 months) ( p = 0.013). Factors at first event independently associated with lower risk of relapsing disease course were immunotherapy <7 days from onset (6.7-fold reduced odds of relapsing course, OR 0.15, 95% CI 0.03-0.61, p = 0.009), corticosteroid treatment for ≥5 weeks (6.7-fold reduced odds of relapse, OR 0.15, 95% CI 0.03-0.80, p = 0.026), and abnormal optic nerves on onset MRI (12.5-fold reduced odds of relapse, OR 0.08, 95% CI 0.01-0.50, p = 0.007). 21.1% (15/71) had EDSS ≥ 1 at final follow-up. Patients with a relapsing course had a higher proportion of final EDSS ≥ 1 (37.5%, 9/24) than children with monophasic disease (12.8%, 5/39) ( p = 0.022, univariate analysis). Each 1-point increment in worst EDSS at onset was independently associated with 6.7-fold increased odds of final EDSS ≥ 1 (OR 6.65, 95% CI 1.33-33.26, p = 0.021)., Discussion: At first attack of pediatric MOGAD, early immunotherapy, longer duration of corticosteroid treatment, and abnormal optic nerves on MRI seem associated with lower risk of relapse, whereas higher disease severity is associated with greater risk of final disability (EDSS ≥ 1)., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
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- 2022
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45. Emotional Experience and Regulation in Juvenile Primary Headaches: A Cross-Sectional Pilot Study.
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Miscioscia M, Di Riso D, Spaggiari S, Poli M, Gaiga G, Randazzo G, Pelizza MF, Galdiolo L, Raffagnato A, Sartori S, and Toldo I
- Abstract
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. We aim to: (a) examine the interplay between emotional experience, affective regulation, and internalizing symptoms in children suffering from primary headaches and their caregivers; (b) identify potential predictors of children with migraines' internalizing symptoms. Fifty children and adolescents with a diagnosis of primary headaches and their caregivers were compared to a sample of fifty-one healthy peers and caregivers. Self-reports and parent-reports were administered. Results indicate higher negative affect and internalizing symptoms and lower bodily awareness of emotions in the clinical sample ( n = 50; Mage = 11.66, SD = 2.25) compared to controls ( n = 51; Mage = 11.73, SD = 2.32); mothers of TTH children self-reported lower emotional awareness and higher difficulties in engaging in goal-directed behavior; a higher frequency of headaches was associated with greater emotional regulation difficulties. Internalizing symptoms were predicted by higher self-reported negative affect and parent-reported internalizing symptoms, and lower self-reported ability in the verbal sharing of emotions. These findings suggest the importance of assessing the psychological features linked to children with primary headaches' psychological well-being.
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- 2022
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46. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort.
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Po' C, Nosadini M, Zedde M, Pascarella R, Mirone G, Cicala D, Rosati A, Cosi A, Toldo I, Colombatti R, Martelli P, Iodice A, Accorsi P, Giordano L, Savasta S, Foiadelli T, Sanfilippo G, Lafe E, Thyrion FZ, Polonara G, Campa S, Raviglione F, Scelsa B, Bova SM, Greco F, Cordelli DM, Cirillo L, Toni F, Baro V, Causin F, Frigo AC, Suppiej A, Sainati L, Azzolina D, Agostini M, Cesaroni E, De Carlo L, Di Rosa G, Esposito G, Grazian L, Morini G, Nicita F, Operto FF, Pruna D, Ragazzi P, Rollo M, Spalice A, Striano P, Skabar A, Lanterna LA, Carai A, Marras CE, Manara R, and Sartori S
- Abstract
Background: Moyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs)., Methods: We conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country., Results: A total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58-13.88%). At last follow-up (median 4 years after diagnosis, range 0.5-15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS ( p = 0.021). Onset age <4 years and stroke before diagnosis were significantly associated with increased risk of intellectual disability ( p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up ( p = 0.0106 and p = 0.0009, respectively)., Conclusions: Moyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2)., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Po', Nosadini, Zedde, Pascarella, Mirone, Cicala, Rosati, Cosi, Toldo, Colombatti, Martelli, Iodice, Accorsi, Giordano, Savasta, Foiadelli, Sanfilippo, Lafe, Thyrion, Polonara, Campa, Raviglione, Scelsa, Bova, Greco, Cordelli, Cirillo, Toni, Baro, Causin, Frigo, Suppiej, Sainati, Azzolina, Agostini, Cesaroni, De Carlo, Di Rosa, Esposito, Grazian, Morini, Nicita, Operto, Pruna, Ragazzi, Rollo, Spalice, Striano, Skabar, Lanterna, Carai, Marras, Manara and Sartori.)
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- 2022
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47. Autoimmune Encephalitis and Other Neurological Syndromes With Rare Neuronal Surface Antibodies in Children: A Systematic Literature Review.
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Ancona C, Masenello V, Tinnirello M, Toscano LM, Leo A, La Piana C, Toldo I, Nosadini M, and Sartori S
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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. Ninety-four children were included in the review (47/94 female, age range 0.2-18 years). The most frequent NSAS were anti-D2R (28/94, 30%), anti-GABAAR (23/94, 24%), and anti-GlyR (22/94, 23%) autoimmunity. The most frequent clinical syndromes were AE, including limbic and basal ganglia encephalitis (57/94, 61%; GABAAR, D2R, GABABR, AMPAR, amphiphysin, and mGluR5), and isolated epileptic syndromes (15/94, 16%; GlyR, GABAAR). With the limitations imposed by the low number of cases, the main distinctive features of our pediatric literature cohort compared to the respective NSAS in adults included: absent/lower tumor association (exception made for anti-mGluR5 autoimmunity, and most evident in anti-amphiphysin autoimmunity); loss of female preponderance (AMPAR); relatively frequent association with preceding viral encephalitis (GABAAR, D2R). Moreover, while SPS and PERM are the most frequent syndromes in adult anti-GlyR and anti-amphiphysin autoimmunity, in children isolated epileptic syndromes and limbic encephalitis appear predominant, respectively. To our knowledge, this is the first systematic review on rare pediatric NSAS. An improved characterization may aid their recognition in children., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Ancona, Masenello, Tinnirello, Toscano, Leo, La Piana, Toldo, Nosadini and Sartori.)
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- 2022
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48. Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.
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Sorrentino U, Bellonzi S, Mozzato C, Brasson V, Toldo I, Parrozzani R, Clementi M, Cassina M, and Trevisson E
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An 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 4.7% was observed. In about 70% of cases, seizures arose in the context of neuroradiological findings, with the main predisposing factors being cerebral vasculopathies and hydrocephalus. In the absence of structural abnormalities, the prevalence of epilepsy was found to be 1.27%, which is approximately equal to the total prevalence in the general population. NF1 patients with seizures exhibit a higher incidence of intellectual disability and/or developmental delay, as well as of isolated learning disabilities. The comparison of causative NF1 mutations between the two groups did not reveal a specific genotype-phenotype correlation. Our data refine the current knowledge on epileptological manifestations in NF1 patients, arguing against the hypothesis that specific mechanisms, inherent to neurofibromin cellular function, might determine an increased risk of epilepsy in this condition.
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- 2021
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49. Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias.
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Nosadini M, D'Onofrio G, Pelizza MF, Luisi C, Padrin D, Baggio L, Zorzi GS, Toldo I, and Sartori S
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- Humans, Sleep, Dyskinesias
- Abstract
Competing Interests: None declared.
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- 2021
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50. Cardiac Myxoma as a Rare Cause of Pediatric Arterial Ischemic Stroke: Case Report and Literature Review.
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Tona C, Nosadini M, Pelizza MF, Pin JN, Baggio L, Boniver C, Gabrieli JD, Causin F, Toldo I, and Sartori S
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- Brain diagnostic imaging, Brain pathology, Brain Ischemia complications, Child, Female, Heart Neoplasms complications, Humans, Ischemic Stroke complications, Male, Myxoma complications, Brain Ischemia diagnosis, Heart Neoplasms diagnosis, Ischemic Stroke diagnosis, Myxoma diagnosis
- Abstract
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., Results: We identified 41 published pediatric cases of AIS and cardiac myxoma, including ours (56% males, median age at AIS was 11 years [range: 3-18]). AIS presentation was most frequently with hemiparesis/hemiplegia (89%). Multiple brain ischemic lesions were detected in 69% of patients, and arteriopathy in 91%. Seven patients underwent mechanical thrombectomy. At AIS presentation, 73% of children had one or more of the following clinical symptoms/signs suggesting a possible underlying cardiac myxoma: Carney's complex, cardiac auscultation abnormalities, extraneurological symptoms/signs, such as skin signs (12, 38, and 65%, respectively). Cardiac myxoma was diagnosed within 72 hours in 68% of cases. Death occurred in 11%, and 40% had persistent neurological deficits., Conclusion: Neurological presentation of AIS due to cardiac myxoma is similar to that of AIS with other etiologies, although clues suggesting a possible underlying cardiac myxoma can be detected in most cases. A timely diagnosis of cardiac myxoma in patients with AIS may favor prompt identification of candidates for endovascular therapy. Therefore, we suggest that in otherwise-healthy children presenting with AIS, transthoracic echocardiography should be performed early after stroke presentation., Competing Interests: None declared., (Thieme. All rights reserved.)
- Published
- 2020
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