33 results on '"Paolino MC"'
Search Results
2. Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation
- Author
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Parisi, P, Oliva, Antonio, Vidal, Mc, Partemi, Sara, Campuzano, O, Iglesias, A, Pisani, D, Pascali, Vl, Paolino, Mc, Villa, Mp, Zara, F, Tassinari, Ca, Striano, P, Brugada, R., Oliva, Antonio (ORCID:0000-0001-7120-616X), Parisi, P, Oliva, Antonio, Vidal, Mc, Partemi, Sara, Campuzano, O, Iglesias, A, Pisani, D, Pascali, Vl, Paolino, Mc, Villa, Mp, Zara, F, Tassinari, Ca, Striano, P, Brugada, R., and Oliva, Antonio (ORCID:0000-0001-7120-616X)
- Abstract
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel genes. Epilepsy is a disorder of neuronal function also involving abnormal channel function. It is increasingly demonstrated that the etiologies of long QT syndrome and epilepsy may partly overlap. However, only a few genetic studies have addressed a possible link between cardiac and neural channelopathies. We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified. We suggest that this mutation can be responsible for cardiac and brain involvement, probably at different developmental age in the same individual. This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy.
- Published
- 2013
3. Biochemical Basis of Inflammation in Children with Obstructive Sleep Apnea Syndrome (OSAS) and in Children with Obesity.
- Author
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Villa, MP, primary, Massolo, AC, additional, Ianniello, F, additional, Evangelisti, M, additional, Paolino, MC, additional, Miano, S, additional, Montesano, M, additional, and Cardelli, P, additional
- Published
- 2009
- Full Text
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4. Autonomic cardiovascular tests in children with obstructive sleep apnea syndrome.
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Montesano M, Miano S, Paolino MC, Massolo AC, Ianniello F, Forlani M, and Villa MP
- Published
- 2010
5. Prevalence of EEG paroxysmal activity in a population of children with obstructive sleep apnea syndrome.
- Author
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Miano S, Paolino MC, Peraita-Adrados R, Montesano M, Barberi S, and Villa MP
- Published
- 2009
6. Neonatal Cerebral Venous Thrombosis following Maternal SARS-CoV-2 Infection in Pregnancy.
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Campi F, Longo D, Bersani I, Savarese I, Lucignani G, Haass C, Paolino MC, Vadalà S, De Liso P, Di Capua M, Luciani M, Esposito G, Amante PG, Vigevano F, and Dotta A
- Subjects
- Adult, Child, Family, Female, Humans, Infant, Newborn, Infectious Disease Transmission, Vertical, Pregnancy, Pregnancy Outcome, SARS-CoV-2, COVID-19 complications, Intracranial Thrombosis diagnostic imaging, Intracranial Thrombosis etiology, Pregnancy Complications, Infectious diagnosis, Venous Thrombosis complications
- Abstract
A possible consequence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is the development of an exacerbated thrombophilic status, and cerebral venous thrombosis (CVT) is a rare but possible complication of SARS-CoV-2 infection reported both in adults and in children. The present case report describes the clinical course of a term neonate showing extended CVT of unclear origin, whose mother had developed SARS-CoV-2 infection during the third trimester of pregnancy. We speculate that the prothrombotic status induced by maternal SARS-CoV-2 infection may have played a pathophysiological role in the development of such severe neonatal complication. Further investigations are required to confirm such hypothesis., (© 2022 S. Karger AG, Basel.)
- Published
- 2022
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7. Cannabidiol Treatment for Refractory Epilepsies in Pediatrics.
- Author
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Raucci U, Pietrafusa N, Paolino MC, Di Nardo G, Villa MP, Pavone P, Terrin G, Specchio N, Striano P, and Parisi P
- Abstract
Cannabis extracts in oil are becoming increasingly available, and, during the last years, there has been growing public and scientific interest about therapeutic properties of these compounds for the treatment of several neurologic diseases, not just epilepsy. The discovered role of the endocannabinoid system in epileptogenesis has provided the basis to investigate the pharmacological use of exogenously produced cannabinoids, to treat epilepsy. Although, physicians show reluctance to recommend Cannabis extracts given the lack of high-quality safety available data, from literature data cannabidiol (CBD) results to be a promising and safe anticonvulsant drug with low side-effect. In particular, according to early studies, CBD can reduce the frequency of seizures and lead to improvements in quality of life in children affected by refractory epilepsy. So, for these reasons, the detailed study of the interactions between CBD and anticonvulsant drugs (AEDs) administered simultaneously in polytherapy, is arousing increasing interest, to clarify and to assess the incidence of adverse effects and the relation between dose escalation and quality of life measures. To date, in pediatric age, CBD efficacy and safety is not supported by well-designed trials and strong scientific evidence are not available. These studies are either retrospective or small-scale observational and only during the last years Class I evidence data for a pure form of CBD have been available, as demonstrated in placebo-controlled RCTs for patients affected by Lennox-Gastaut syndrome and Dravet syndrome. It is necessary to investigate CBD safety, pharmacokinetics and interaction with other AEDs alongside performing double-blinded placebo-controlled trials to obtain conclusive data on its efficacy and safety in the most frequent epilepsies in children, not just in the epileptic encephalopathy. This review was aimed to revise the available data to describe the scientific evidence for CBD in Pediatric Epilepsies., (Copyright © 2020 Raucci, Pietrafusa, Paolino, Di Nardo, Villa, Pavone, Terrin, Specchio, Striano and Parisi.)
- Published
- 2020
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8. [Parenteral nutrition with preconceived bag in a preterm newborn ELBW.]
- Author
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Bonafoni S, Alegiani C, Poloni G, Seminara M, Paolino MC, Boccanera F, Scapillati ME, and Haass C
- Subjects
- Eating, Enteral Nutrition, Humans, Infant, Infant, Newborn, Parenteral Nutrition, Infant, Extremely Low Birth Weight, Infant, Premature
- Abstract
Introduction: The administration of adequate nutritional intake, from the first days of life, is of fundamental importance in the management of the newborn extremely low birth weight (ELBW): parenteral nutrition (PN), as a support for early enteral feeding, plays a central role in the attempt to guarantee a quantitative and qualitative growth similar to that of the fetus in utero, allowing an adequate caloric, macro and micronutrient intake. The standardized PN, carried out through pre-established bags, allows in the case in which is not possible a personalized preparation, balanced nutritional contributions, reducing the risk of microbiological contamination and errors in preparation., Clinical Case: We describe the case of an extremely preterm infant with various co-morbid conditions (severe respiratory syndrome, cerebral hemorrhage, anemia, sepsis and patency of the arterial duct) in which PN was used in a pre-established bag, as a support to enteral feeding in the first weeks of life, characterized by extreme clinical instability., Conclusions: PN is essential for some types of newborns and in particular for the ELBW preterms in which enteral feeding, although undertaken early, does not guarantee the necessary contributions to promote adequate growth. The use of NP in a pre-made bag can be a valid alternative to individualized formulations, where not available.
- Published
- 2020
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9. Management of Childhood Headache in the Emergency Department. Review of the Literature.
- Author
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Raucci U, Della Vecchia N, Ossella C, Paolino MC, Villa MP, Reale A, and Parisi P
- Abstract
Headache is the third cause of visits to pediatric emergency departments (ED). According to a systematic review, headaches in children evaluated in the ED are primarily due to benign conditions that tend to be self-limiting or resolve with appropriate pharmacological treatment. The more frequent causes of non-traumatic headache in the ED include primitive headaches (21.8-66.3%) and benign secondary headaches (35.4-63.2%), whereas potentially life-threatening (LT) secondary headaches are less frequent (2-15.3%). Worrying conditions include brain tumors, central nervous system infections, dysfunction of ventriculo-peritoneal shunts, hydrocephalus, idiopathic intracranial hypertension, and intracranial hemorrhage. In the emergency setting, the main goal is to intercept potentially LT conditions that require immediate medical attention. The initial assessment begins with an in-depth, appropriate history followed by a complete, oriented physical and neurological examination. The literature describes the following red flags requiring further investigation (for example neuroimaging) for recognition of LT conditions: abnormal neurological examination; atypical presentation of headaches: subjective vertigo, intractable vomiting or headaches that wake the child from sleep; recent and progressive severe headache (<6 months); age of the child <6 years; no family history for migraine or primary headache; occipital headache; change of headache; new headache in an immunocompromised child; first or worst headache; symptoms and signs of systemic disease; headaches associated with changes in mental status or focal neurological disorders. In evaluating a child or adolescent who is being treated for headache, physicians should consider using appropriate diagnostic tests. Diagnostic tests are varied, and include routine laboratory analysis, cerebral spinal fluid examination, electroencephalography, and computerized tomography or magnetic resonance neuroimaging. The management of headache in the ED depends on the patient's general conditions and the presumable cause of the headache. There are few randomized, controlled trials on pharmacological treatment of headache in the pediatric population. Only ibuprofen and sumatriptan are significantly more effective than placebo in determining headache relief.
- Published
- 2019
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10. Ictal Epileptic Headache: When Terminology Is Not a Moot Question.
- Author
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Parisi P, Paolino MC, Raucci U, Della Vecchia N, Belcastro V, Villa MP, and Striano P
- Abstract
The relationship between headache and epilepsy is complex and despite the nature of this association is not yet clear. In the last few years, it has been progressively introduced the concept of the "ictal epileptic headache" that was included in the recently revised International Classification of Headaches Disorders 3rd edition (ICHD-3-revised). The diagnostic criteria for ictal epileptic headache (IEH) suggested in 2012 were quite restrictive thus leading to the underestimation of this phenomenon. However, these criteria have not yet been included into the ICHD-3 revision published in 2018, thus creating confusion among both, physicians and experts in this field. Here, we highlight the importance to strictly apply the original IEH criteria explaining the reasons through the analysis of the clinical, historical, epidemiological and pathophysiological characteristics of the IEH itself. In addition, we discuss the issues related to the neurophysiopathological link between headache and epilepsy as well as to the classification of these epileptic events as "autonomic seizure."
- Published
- 2019
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11. Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy.
- Author
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Orlandi A, Paolino MC, Striano P, and Parisi P
- Subjects
- Animals, Anticonvulsants pharmacokinetics, Biological Transport genetics, Blood-Brain Barrier metabolism, Drug Resistance genetics, Epilepsy genetics, Humans, Pharmacogenetics, Polymorphism, Genetic, Tissue Distribution, ATP-Binding Cassette Transporters genetics, Anticonvulsants therapeutic use, Epilepsy drug therapy
- Abstract
Introduction: Although novel antiepileptic drugs (AEDs) have been recently released, the issue of drug resistance in epileptic patients remains unsolved and largely unpredictable. Areas covered: We aim to assess the clinical impact of genetic variations that may influence the efficacy of medical treatment in epilepsy patients. Indeed, many genes, including genes encoding drug transporters (ABCB1), drug targets (SCN1A), drug-metabolizing enzymes (CYP2C9, CYP2C19), and human leucocyte antigen (HLA) proteins, may regulate the mechanisms of drug resistance in epilepsy. This review specifically focuses on the ABC genes, which encode multidrug resistance-associated proteins (MRPs) and may reduce the blood-brain barrier penetration of anticonvulsant AEDs. Expert opinion: Drug resistance remains a crucial problem in epilepsy patients. Pharmacogenomic studies may improve our understanding of drug responses and drug resistance by exploring the impact of gene variants and predicting drug responses and tolerability.
- Published
- 2018
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12. "Atypical forms" of benign epilepsy with centrotemporal spikes (BECTS): How to diagnose and guide these children. A practical/scientific approach.
- Author
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Parisi P, Paolino MC, Raucci U, Ferretti A, Villa MP, and Trenite DK
- Subjects
- Child, Cognition Disorders etiology, Electroencephalography, Epilepsy, Rolandic physiopathology, Epilepsy, Rolandic psychology, Humans, Prognosis, Epilepsy, Rolandic diagnosis
- Abstract
Benign epilepsy with centrotemporal spikes (BECTS) epilepsy, also known as rolandic epilepsy, is the most common childhood type of epilepsy. There is debate on its "benign" definition given the numerous literature data on its correlation to cognitive morbidity. Although its prognosis is often favorable, BECTS can present or evolve however to an atypical form, characterized by a worse prognosis and negative impact on cognitive development. It is possible that abnormal electrical activity, marker of neurological dysfunction, has the potential to disrupt neural network function and development. Numerous studies tried to identify clinical or electroencephalographic criteria for atypical forms and atypical evolution of BECTS in order to guide follow-up and treatment of patients and to predict their outcome. This review provides a compact summery of literature data with a focus on predictive features of future cognitive decline., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2017
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13. Vertigo/dizziness in pediatric emergency department: Five years' experience.
- Author
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Raucci U, Vanacore N, Paolino MC, Silenzi R, Mariani R, Urbano A, Reale A, Villa MP, and Parisi P
- Subjects
- Adolescent, Child, Child, Preschool, Emergency Service, Hospital, Female, Humans, Male, Migraine Disorders complications, Retrospective Studies, Syncope complications, Dizziness diagnosis, Dizziness etiology, Vertigo diagnosis, Vertigo etiology
- Abstract
Background: Vertigo/Dizziness in childhood is not a rare cause of visits to the emergency department (ED). We analyzed a selected group with vertigo/dizziness to identify signs and symptoms that may help to guide the diagnostic approach and management., Methods: A total of 616 children admitted for vertigo to the ED over a five-year period were retrospectively reviewed. Their medical history, clinical characteristics, laboratory and neuroimaging tests, final diagnoses and management were analyzed., Results: Migraine and syncope were the most frequent causes. Two patients were affected by life-threatening cardiac syncope, while structural life-threatening central nervous system diseases were found in 15 patients, none of whom presented with vertigo as an isolated clinical finding., Conclusions: Most cases of vertigo/dizziness in childhood that consist mainly of migraine and syncope are of benign origin. The prompt identification of neurological or cardiological signs or symptoms associated with vertigo in children is mandatory to rule out life-threatening conditions., (© International Headache Society 2015.)
- Published
- 2016
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14. Cannabidiol as potential treatment in refractory pediatric epilepsy.
- Author
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Paolino MC, Ferretti A, Papetti L, Villa MP, and Parisi P
- Subjects
- Animals, Anticonvulsants therapeutic use, Humans, Pediatrics, Cannabidiol therapeutic use, Drug Resistant Epilepsy drug therapy
- Abstract
In recent years there has been great scientific and public interest focused on the therapeutic potential of compounds derived from cannabis for the treatment of refractory epilepsy in children. From in vitro and in vivo studies on animal models, cannabidiol (CBD) appears to be a promising anticonvulsant drug with a favorable side-effect profile. In humans, CBD efficacy and safety is not supported by well-designed trials and its use has been described by anecdotal reports. It will be necessary to investigate CBD safety, pharmacokinetics and interaction with other anti-epileptic drugs (AEDs) alongside performing double-blinded placebo-controlled trials in order to obtain conclusive data on its efficacy and safety in children.
- Published
- 2016
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15. Pharmacological considerations in the use of stiripentol for the treatment of epilepsy.
- Author
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Verrotti A, Prezioso G, Stagi S, Paolino MC, and Parisi P
- Subjects
- Animals, Anticonvulsants adverse effects, Anticonvulsants pharmacology, Dioxolanes adverse effects, Dioxolanes pharmacology, Drug Resistant Epilepsy drug therapy, Epilepsy physiopathology, Humans, Off-Label Use, Anticonvulsants administration & dosage, Dioxolanes administration & dosage, Epilepsy drug therapy
- Abstract
Introduction: Despite the fact that more than 20 antiepileptic drugs (AEDs) are currently available, about one-third of patients still present drug resistance. Further efforts are required to develop novel and more efficacious therapeutic strategies, especially for refractory epileptic syndromes showing few and anecdotic therapeutic options., Areas Covered: Stiripentol (STP) is a second generation AED that shows GABAergic activity, with immature brain selectivity, and an indirect metabolic action on co-administered AEDs. Two pivotal studies demonstrated STP efficacy in patients with Dravet syndrome with refractory partial seizures, and marketing authorization in Europe, Canada and Japan was granted thereafter. Post-marketing surveys reported a good efficacy and tolerability profile. In addition, interesting data is currently emerging regarding off-label experimentation of STP in other forms of epilepsy., Expert Opinion: STP is an important addition to the limited treatment options available for patients resistant to common AEDs. The possibility to inhibit seizures through the metabolic pathway of lactate dehydrogenase and the inhibitory effects on the entry of Na(+) and Ca(2+) are the most recent findings to emerge about STP and could be proof of its neuroprotective action. Moreover, its positive effects on cognitive function, its good safety and tolerability profile and the increasing data about STP efficacy on other refractory epileptic syndromes may prove to be fertile grounds for further investigation.
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- 2016
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16. Headache and ADHD in Pediatric Age: Possible Physiopathological Links.
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Paolino MC, Ferretti A, Villa MP, and Parisi P
- Subjects
- Attention Deficit Disorder with Hyperactivity complications, Child, Headache complications, Humans, Sleep Wake Disorders physiopathology, Attention physiology, Attention Deficit Disorder with Hyperactivity physiopathology, Brain physiopathology, Headache physiopathology
- Abstract
Primary headache and attention-deficit/hyperactivity disorder (ADHD) are common disorders in children and adolescences, frequently associated to severe cognitive, emotional, and behavioral impairments. They both are a disabling condition with consequences on family and child's quality of life. Literature data on their association are contrasting. Dopaminergic system dysfunction, brain iron deficiency, and sleep disturbance should be considered to better understand headache and ADHD overlap. In this review, we analyze the complex association between these two diseases and the potential impact on child neurodevelopment.
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- 2015
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17. Gastroesophageal reflux disease vs. Panayiotopoulos syndrome: an underestimated misdiagnosis in pediatric age?
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Parisi P, Pacchiarotti C, Ferretti A, Bianchi S, Paolino MC, Barreto M, Principessa L, and Villa MP
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- Child, Child, Preschool, Electroencephalography, Humans, Polysomnography, Syndrome, Autonomic Nervous System physiopathology, Diagnostic Errors, Epilepsies, Partial diagnosis, Gastroesophageal Reflux diagnosis
- Abstract
Autonomic signs and symptoms could be of epileptic or nonepileptic origin, and the differential diagnosis depends on a number of factors which include the nature of the autonomic manifestations themselves, the occurrence of other nonictal autonomic signs/symptoms, and the age of the patient. Here, we describe twelve children (aged from ten months to six years at the onset of the symptoms) with Panayiotopoulos syndrome misdiagnosed as gastroesophageal reflux disease. Gastroesophageal reflux disease and Panayiotopoulos syndrome may represent an underestimated diagnostic challenge. When the signs/symptoms occur mainly during sleep, a sleep EEG or, if available, a polysomnographic evaluation may be the most useful investigation to make a differential diagnosis between autonomic epileptic and nonepileptic disorders. An early detection can reduce both the high morbidity related to mismanagement and the high costs to the national health service related to the incorrect diagnostic and therapeutic approaches. To decide if antiseizure therapy is required, one should take into account both the frequency and severity of epileptic seizures and the tendency to have potentially lethal autonomic cardiorespiratory involvement. In conclusion, we would emphasize the need to make a differential diagnosis between gastroesophageal reflux disease and Panayiotopoulos syndrome in patients with "an unusual" late-onset picture of GERD and acid therapy-resistant gastroesophageal reflux, especially if associated with other autonomic symptoms and signs., (Copyright © 2014 Elsevier Inc. All rights reserved.)
- Published
- 2014
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18. Adenotonsillectomy and orthodontic therapy in pediatric obstructive sleep apnea.
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Villa MP, Castaldo R, Miano S, Paolino MC, Vitelli O, Tabarrini A, Mazzotta AR, Cecili M, and Barreto M
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- Adenoidectomy, Adenoids pathology, Child, Child, Preschool, Combined Modality Therapy, Female, Humans, Hypertrophy, Male, Palatine Tonsil pathology, Polysomnography, Palatal Expansion Technique, Sleep Apnea, Obstructive therapy, Tonsillectomy
- Abstract
Purpose: Rapid maxillary expansion (RME) is an additional treatment in pediatric obstructive sleep apnea (OSA). The aim of this study was to present data about the outcome of adenotonsillectomy (AT) and of RME in a clinical sample of pediatric OSA., Methods: We consecutively enrolled children with OSA to undergo RME or AT. The age and the severity of OSA are the main factors involved in the choice of treatment. A polysomnography was performed at the baseline (i.e., before treatment, T0) and 1 year after treatment (T1)., Results: A total of 52 subjects fulfilled the inclusion criteria. Twenty-five children underwent AT (group 1) and 22 children underwent RME (group 2). Five children underwent both treatments (group 3). Children in group 2 were older, had a longer disease duration, a higher body mass index (BMI), a lower apnea-hypopnea index (AHI), and a lower arousal index at T0 than children in group 1. After 1 year, BMI percentile and overnight mean saturation increased in group 1 while AHI and arousal index decreased. In group 2, mean overnight saturation increased while AHI decreased. Children in group 3 displayed a significant decrease in AHI from T0 to T1., Conclusions: Our data demonstrate that both treatments help to improve OSA, and a multidisciplinary approach to treatment is suggested.
- Published
- 2014
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19. Headache and attention deficit and hyperactivity disorder in children: common condition with complex relation and disabling consequences.
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Parisi P, Verrotti A, Paolino MC, Ferretti A, Raucci U, Moavero R, Villa MP, and Curatolo P
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- Attention Deficit Disorder with Hyperactivity epidemiology, Attention Deficit Disorder with Hyperactivity physiopathology, Brain physiopathology, Child, Female, Headache epidemiology, Headache physiopathology, Humans, Migraine Disorders physiopathology, Pediatrics, Quality of Life, Attention Deficit Disorder with Hyperactivity diagnosis, Headache complications
- Abstract
The aim of this review was to analyze literature data on the complex association between headache and attention deficit and hyperactivity disorder (ADHD) in children, in order to explore its possible consequences on child neurological development. Headache and ADHD are two common conditions in the pediatric population. They both are disabling diseases that impact the child's quality of life and are associated with severe cognitive, emotional, and behavioral impairments. To assess and analyze literature data about the association of ADHD and headache in children and possible physiopathogenesis relationships, we searched for the following terms: headache, migraine, tension-type headache, ADHD, and children (MESH or text words). We found different studies that assess the clinical, epidemiological, and physiopathogenetic overlap between these two diseases, with contrasting results and unresolved questions. Structural and functional abnormalities in brain networks have been found to be central in both headache and ADHD pathophysiology. It will be crucial to gain a better understanding of how subcortical-cortical and corticocortical network development is altered during the onset of the disorders., (Copyright © 2014 Elsevier Inc. All rights reserved.)
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- 2014
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20. Metabolic epilepsy: an update.
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Papetti L, Parisi P, Leuzzi V, Nardecchia F, Nicita F, Ursitti F, Marra F, Paolino MC, and Spalice A
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- Age of Onset, Early Diagnosis, Electroencephalography methods, Genetic Predisposition to Disease, Humans, Epilepsy etiology, Epilepsy genetics, Metabolic Syndrome complications
- Abstract
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background., (Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
- Published
- 2013
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21. Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.
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Parisi P, Oliva A, Coll Vidal M, Partemi S, Campuzano O, Iglesias A, Pisani D, Pascali VL, Paolino MC, Villa MP, Zara F, Tassinari CA, Striano P, and Brugada R
- Subjects
- Adult, Brain Waves genetics, Child, Preschool, DNA Mutational Analysis, Electroencephalography, Family Health, Female, Humans, Male, Brugada Syndrome complications, Brugada Syndrome genetics, Epilepsy complications, Epilepsy genetics, Mutation genetics, NAV1.5 Voltage-Gated Sodium Channel genetics
- Abstract
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel genes. Epilepsy is a disorder of neuronal function also involving abnormal channel function. It is increasingly demonstrated that the etiologies of long QT syndrome and epilepsy may partly overlap. However, only a few genetic studies have addressed a possible link between cardiac and neural channelopathies. We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified. We suggest that this mutation can be responsible for cardiac and brain involvement, probably at different developmental age in the same individual. This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy., (Copyright © 2013 Elsevier B.V. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
22. Sleep clinical record: an aid to rapid and accurate diagnosis of paediatric sleep disordered breathing.
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Villa MP, Paolino MC, Castaldo R, Vanacore N, Rizzoli A, Miano S, Del Pozzo M, and Montesano M
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- Anthropometry, Area Under Curve, Body Mass Index, Child, Child, Preschool, Female, Humans, Male, Physical Examination, Polysomnography statistics & numerical data, Sensitivity and Specificity, Sleep, Surveys and Questionnaires, Sleep Apnea Syndromes diagnosis, Sleep Apnea, Obstructive diagnosis, Snoring diagnosis
- Abstract
Overnight polysomnography (PSG) is an expensive procedure which can only be used in a minority of cases, although it remains the gold standard for the diagnosis of sleep disordered breathing (SDB). The objective of this study was to develop a simple, PSG-validated tool to screen SDB, thus reducing the use of PSG. For every participant we performed PSG and a sleep clinical record was completed. The sleep clinical record consists of three items: physical examination, subjective symptoms and clinical history. The clinical history analyses behavioural and cognitive problems. All three items were used to create a sleep clinical score (SCS). We studied 279 children, mean ± SD age 6.1 ± 3.1 years, 63.8% male; 27.2% with primary snoring and 72.8% with obstructive sleep apnoea (OSA) syndrome. The SCS was higher in the OSA syndrome group compared to the primary snoring group (8.1 ± 9.6 versus 0.4 ± 0.3, p<0.005), correlated with apnoea/hypopnoea index (p=0.001) and had a sensitivity of 96.05%. Positive and negative likelihood ratios were 2.91 and 0.06, respectively. SCS may effectively be used to screen patients as candidates for PSG study for suspected OSA syndrome, and to enable those with a mild form of SDB to receive early treatment.
- Published
- 2013
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23. Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.
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Parisi P, Persechino S, Paolino MC, Nicita F, Torrente I, Bozzao A, and Villa MP
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- Biomarkers blood, Child, Follow-Up Studies, Genes, Neurofibromatosis 1, Genetic Testing, Humans, Male, Pedigree, Phenotype, Fathers, Hamartoma genetics, Mutation, Neurofibromatosis 1 genetics, Neurofibromin 1 genetics, Pons
- Abstract
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 'sporadic' and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability.
- Published
- 2013
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24. Could treatment of iron deficiency both improve ADHD and reduce cardiovascular risk during treatment with ADHD drugs?
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Parisi P, Villa MP, Donfrancesco R, Miano S, Paolino MC, and Cortese S
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- Comorbidity, Humans, Prevalence, Risk Factors, Anemia, Iron-Deficiency epidemiology, Anemia, Iron-Deficiency therapy, Attention Deficit Disorder with Hyperactivity epidemiology, Attention Deficit Disorder with Hyperactivity prevention & control, Cardiovascular Diseases epidemiology, Cardiovascular Diseases prevention & control, Causality
- Abstract
Attention-Deficit/Hyperactivity Disorder (ADHD) is one of the most common childhood-onset neuropsychiatric conditions. Despite extensive research, the etiopathophysiological factors underlying ADHD are not completely understood. It has been suggested that iron deficiency may contribute to ADHD symptoms severity. Whereas evidence from studies based on serum ferritin measures, a marker of peripheral iron status, is somewhat mixed, preliminary recent evidence suggests a deficiency of brain iron in individuals with ADHD. Therefore, it has been proposed that either a deficiency of peripheral iron or a dysfunction of the blood-brain barrier, in the presence of normal peripheral iron levels, may contribute to low brain iron levels, which, in turn, would increase the risk for ADHD symptoms in a subgroup of individuals with this disorder. It has also been found that individuals with ADHD may be at increased risk of severe cardiovascular events during treatment with ADHD drugs, although the extent to which this occurs in ADHD patients compared to non-ADHD individuals is still matter of investigation. Since iron depletion has been recently reported as a risk factor for adverse prognosis in heart failure, iron deficiency might contribute both to ADHD symptoms severity before treatment and to increased risk of severe cardiovascular events during treatment with ADHD drugs in a selected subgroup of patients. Therefore, we hypothesize that the effective treatment of iron deficiency might lead both to improvement of ADHD symptoms severity and to a decrease of the risk of cardiovascular events during treatment with ADHD drugs. If empirical studies confirm this hypothesis, the clinician would be advised to systematically check iron status and effectively treat iron deficiency before starting a pharmacological treatment with ADHD drugs., (Copyright © 2012 Elsevier Ltd. All rights reserved.)
- Published
- 2012
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25. Sleep cyclic alternating pattern analysis in infants with apparent life-threatening events: a daytime polysomnographic study.
- Author
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Miano S, Castaldo R, Ferri R, Peraita-Adrados R, Paolino MC, Montesano M, and Villa MP
- Subjects
- Case-Control Studies, Circadian Rhythm physiology, Electroencephalography, Female, Humans, Infant, Infant, Newborn, Male, Sleep Disorders, Circadian Rhythm physiopathology, Sleep Stages physiology, Sleep, REM physiology, Arousal physiology, Cyanosis physiopathology, Muscle Hypertonia physiopathology, Muscle Hypotonia physiopathology, Polysomnography, Sleep physiology, Sleep Apnea Syndromes physiopathology
- Abstract
Objective: Non-REM sleep is characterized by a physiologic oscillating pattern that exhibits different levels of arousal, coded as cyclic alternating pattern. The aim of this study was to analyze the development of cyclic alternating pattern parameters in a group of infants with apparent life-threatening events., Methods: A total of 26 infants with apparent life-threatening events (14 females, mean age 3.4 months, 2.37 S.D., age range 0.5-9 months) were studied while they slept in the morning between feedings, by means of a 3-h video-electroencephalographic-polygraphic recording. Sleep was visually scored using standard criteria. The control group was composed of 36 healthy infants (16 females, mean age 3.2 months, 2.17 S.D., age range 0.5-9 months)., Results: Children with apparent life-threatening events showed an increased frequency of periodic breathing, gastroesofageal reflux and of other risk conditions. They presented also an increased obstructive apnoea/hypopnea index. A full NREM sleep development was found in a significantly smaller percentage of patients, and they showed a significant reduction of the percentage of REM sleep, of cyclic alternating pattern A1 subtypes, an increased percentage of A2 and A3 subtypes and increased index of A2, A3 subtypes and arousal, compared to normal controls. Cyclic alternating pattern rate showed a significant positive correlation with age, only in controls., Conclusions: Our results show a higher level of arousal and an increased non-REM sleep discontinuity in babies with apparent life-threatening events, compared to controls., Significance: The enhanced mechanism of arousal might counteract life-threatening events and represent an important neurophysiologic distinction from future victims of sudden infant death syndrome who also experience similar events., (Copyright © 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2012
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26. "Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.
- Author
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Parisi P, Verrotti A, Paolino MC, Castaldo R, Ianniello F, Ferretti A, Chiarelli F, and Villa MP
- Subjects
- Age Factors, Child, Diagnosis, Differential, Humans, Prognosis, Syndrome, Anticonvulsants therapeutic use, Electroencephalography, Epilepsy diagnosis, Epilepsy drug therapy, Epilepsy genetics, Genetic Predisposition to Disease
- Abstract
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views.
- Published
- 2011
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27. Neurocognitive assessment and sleep analysis in children with sleep-disordered breathing.
- Author
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Miano S, Paolino MC, Urbano A, Parisi P, Massolo AC, Castaldo R, and Villa MP
- Subjects
- Child, Female, Humans, Intelligence physiology, Intelligence Tests, Male, Polysomnography methods, Sleep Apnea Syndromes diagnosis, Snoring diagnosis, Snoring physiopathology, Snoring psychology, Cognition physiology, Neuropsychological Tests, Sleep physiology, Sleep Apnea Syndromes physiopathology, Sleep Apnea Syndromes psychology
- Abstract
Objective: To assess possible correlations between intelligence quotient (IQ) and attention deficit hyperactive disorder (ADHD) rating scale values and sleep (including cyclic alternating patterns analysis) and respiratory parameters in children with sleep-disordered breathing (SDB)., Methods: Thirteen children who satisfied the criteria for primary snoring and 31 children for obstructive sleep apnea syndrome (OSAS) underwent polysomnography in a standard laboratory setting and a neurocognitive assessment. Sixty normal controls recruited from two schools underwent the neurocognitive assessment., Results: The IQ estimates of controls were higher and the ADHD rating scale scores lower than those of children with SDB. Children with OSAS had a higher REM sleep latency and arousal index as well as a lower N3 and A mean duration than children who snored. In our sample of children with SDB, the percentage of wakefulness after sleep onset, of N1, of A2, of arousal and A2 index correlated positively with global intelligence. Total and hyperactivity scores correlated positively with the A2 index. Regression analysis mostly confirmed the correlations between neurocognitive measures and sleep parameters and further demonstrated a negative correlation between the hyperactivity rating score and oxygen saturation during the night., Conclusions: Our results support the hypothesis that arousal is a defensive mechanism that may preserve cognitive function by counteracting the respiratory events, at the expense of sleep maintenance and NREM sleep instability., Significance: We believe that our study makes an interesting contribution to research on the relationship between sleep fragmentation and cognitive function., (Copyright © 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2011
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28. Cognitive profile, parental education and BMI in children: reflections on common neuroendrocrinobiological roots.
- Author
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Parisi P, Verrotti A, Paolino MC, Miano S, Urbano A, Bernabucci M, and Villa MP
- Subjects
- Adolescent, Child, Cross-Sectional Studies, Female, Humans, Male, Regression Analysis, Body Mass Index, Cognition, Educational Status, Neurosecretory Systems physiology, Obesity psychology, Parents
- Abstract
Overweight and obesity may be associated with cognitive problems and both may share "neuroendocrinobiological roots" in common cerebral areas. We investigated intellectual performances and a possible "specific cognitive profile" in overweight/obese children. A cross-sectional study was conducted on 898 school children (6 to 13 years) attending primary schools. Wechsler Intelligence Scale for Children-revised (WISC-R) revealed significant differences in performance intelligence quotient (PIQ) scores between body mass index (BMI) subgroups (p < 0.01). Regression analysis identified BMI as the only variable significantly related to PIQ (p < 0.05). Gender (p < 0.05) and parental educational score (p < 0.001) were significantly related to verbal intelligence quotient (VIQ). Parental educational score was the only factor significantly related to total intelligence quotient (TIQ) (p < 0.05). Parental education seems to play a major role in TIQ and VIQ; a lower PIQ score is clearly related to a higher BMI. A routine neurocognitive assessment in overweight/obese children is recommended. Finally, we have added some reflections on common neuroendocrinobiological roots.
- Published
- 2010
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29. Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene.
- Author
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Parisi P, Miano S, Mei D, Paolino MC, Castaldo R, and Villa MP
- Subjects
- Brain pathology, Brain physiopathology, Child, Preschool, Classical Lissencephalies and Subcortical Band Heterotopias pathology, Classical Lissencephalies and Subcortical Band Heterotopias physiopathology, Doublecortin Domain Proteins, Doublecortin Protein, Epilepsy pathology, Epilepsy physiopathology, Female, Humans, Nocturnal Myoclonus Syndrome pathology, Nocturnal Myoclonus Syndrome physiopathology, Polysomnography, Sequence Analysis, DNA, Classical Lissencephalies and Subcortical Band Heterotopias genetics, Epilepsy genetics, Microtubule-Associated Proteins genetics, Mutation, Missense, Neuropeptides genetics, Nocturnal Myoclonus Syndrome genetics
- Abstract
Mutations of the DCX gene (Xp22.3) cause X-linked lissencephaly in males and double cortex syndrome (DCS) or subcortical band heterotopia (SBH) in females. SBH is characterized by bilateral bands of grey matter interposed in the white matter between the cortex and the lateral ventricles. The main clinical manifestation in patients with SBH is epilepsy, which may be partial or generalized and is intractable in approximately 65% of the patients. An association of periodic limb movements (PLMs) and SBH has not been documented previously. We describe a 2-year-old girl affected by SBH with epilepsy and periodic limb movements (PLMs), in whom a novel "de novo" missense substitution, Met1Val (M1V), was identified in the DCX gene. Physiopathological links between PLMs and SBH are discussed., (Copyright (c) 2009 Elsevier B.V. All rights reserved.)
- Published
- 2010
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30. Migraine treatment in developmental age: guidelines update.
- Author
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Papetti L, Spalice A, Nicita F, Paolino MC, Castaldo R, Iannetti P, Villa MP, and Parisi P
- Subjects
- Adolescent, Age Factors, Central Nervous System drug effects, Central Nervous System growth & development, Child, Clinical Trials as Topic, Humans, Migraine Disorders classification, Migraine Disorders prevention & control, Practice Guidelines as Topic standards, Migraine Disorders drug therapy, Neurology methods, Neurology standards, Pediatrics methods, Pediatrics standards
- Abstract
There is a serious lack of controlled studies on the pharmacological treatment of primary migraine in the developmental age; there is, consequently, an urgent need for new, evidence-based approaches to this long-neglected field of research. Moreover, previous studies have stated that the placebo response is greater in pediatric patients than in adults and that a reduction in the attack frequency in the absence of any pharmacological treatment is observed more frequently in pediatric migraine patients than in adults. Besides these preliminary considerations, the shorter duration of migraine attacks and other characteristic semeiological features of the clinical picture in children are such that the design of randomized controlled trial (RCT) is more problematic in the developmental age than in the adult. Bearing in mind all these weak points, the aim of this review was to summarize and update recent guidelines for the treatment of primary migraine in children and adolescents. The most recent guidelines are those published by the Italian Society for the study of Headache, the French Society for the study of Migraine and Headache, and the American Academy of Neurology. We have incorporated into these guidelines the results from the few, recent RCTs, clinical controlled trials, open-label studies, meta-analyses and reviews that have been published since 2004; owing to the lack of strong evidence in this field of research, we have sometimes even mentioned pilot non-controlled studies, case series and expert opinions. Lastly, evidence was classified and the recommendations were categorized according to different levels.
- Published
- 2010
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31. Headache and cognitive profile in children: a cross-sectional controlled study.
- Author
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Parisi P, Verrotti A, Paolino MC, Urbano A, Bernabucci M, Castaldo R, and Villa MP
- Subjects
- Adolescent, Analysis of Variance, Case-Control Studies, Child, Comprehension physiology, Cross-Sectional Studies, Female, Humans, Intelligence physiology, Linear Models, Male, Neuropsychological Tests, Retrospective Studies, Verbal Behavior physiology, Wechsler Scales, Cognition Disorders etiology, Migraine without Aura complications, Tension-Type Headache complications
- Abstract
We investigated whether children affected by tension-type headache and migraine without aura, compared with a healthy control group that was matched by age, culturally and socioeconomically display a diverse intellectual functioning and have a separate "cognitive profile". A cross-sectional study was conducted from January 2006 to November 2008 at "Sapienza University" in Rome. A total of 134 children were diagnosed as being affected by either migraine without aura (93) or tension-type headache (41). On the basis of our exclusion/inclusion criteria, we enrolled 82 of these 134 children, 63 of whom were affected by migraine without aura and 19 by tension-type headache. On entry, cognitive functions were assessed in both the affected subjects and the control group by the Wechsler Intelligence Scale for Children-revised. Significant differences were found between the headache and control groups in the mean total intelligence quotient and verbal intelligence quotient scores (p < 0.001). Significant negative correlations were found between the total intelligence quotient, verbal intelligence quotient, performance intelligence quotient and the frequency of attacks (r = -0.55 and p < 0.001, r = -0.61 and p < 0.001, r = -0.29 and p < 0.01, respectively), as well as between the total intelligence quotient score and the age at headache onset (r = 0.234, p < 0.05). Our results suggest that the cognitive profile of children affected by headache should be assessed at the first child neurology outpatient observation. From a therapeutic point of view, although within a normal range, the abilities most likely to be less brilliant in such children are verbal skills.
- Published
- 2010
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32. Visual scoring of sleep: A comparison between the Rechtschaffen and Kales criteria and the American Academy of Sleep Medicine criteria in a pediatric population with obstructive sleep apnea syndrome.
- Author
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Miano S, Paolino MC, Castaldo R, and Villa MP
- Subjects
- Case-Control Studies, Child, Child, Preschool, Electroencephalography, Electromyography, Female, Humans, Male, Polysomnography, Sleep Stages physiology, Snoring diagnosis, Snoring physiopathology, Sleep physiology, Sleep Apnea, Obstructive diagnosis, Sleep Apnea, Obstructive physiopathology, Sleep Deprivation diagnosis, Sleep Deprivation physiopathology
- Abstract
Objective: To compare the new American Academy of Sleep Medicine (AASM) criteria for scoring sleep with the previous Rechtschaffen and Kales (R&K) criteria in a cohort of children with primary snoring, obstructive sleep apnea syndrome (OSAS) and normal controls., Methods: Polysomnography was performed in 26 consecutive children with primary snoring (13 males, mean age 6.2 years, SD 3.2), in 39 with OSAS (24 males, mean age 6.1 years, SD 3.0), and in 10 age-matched normal controls., Results: Compared to the other groups, OSAS children showed a lower percentage of slow-wave sleep, using both R&K and AASM criteria; they also showed a higher percentage of stage shifts, and N1, using the AASM criteria. Children with primary snoring showed a higher percentage of N1, compared to controls., Conclusions: These results indicate that the use of the new AASM criteria seem to disclose more differences in sleep parameters than the R&K rules in children with OSAS., Significance: The AASM criteria seem to disclose a high degree of sleep fragmentation in children with OSAS, mostly related to the repeated occurrence of N1., (Copyright 2009 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2010
- Full Text
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33. Melatonin to prevent migraine or tension-type headache in children.
- Author
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Miano S, Parisi P, Pelliccia A, Luchetti A, Paolino MC, and Villa MP
- Subjects
- Adolescent, Age Factors, Central Nervous System Depressants administration & dosage, Central Nervous System Depressants adverse effects, Child, Consciousness Disorders chemically induced, Female, Humans, Male, Melatonin adverse effects, Migraine Disorders prevention & control, Sleep Stages drug effects, Tension-Type Headache prevention & control, Treatment Outcome, Melatonin administration & dosage, Migraine Disorders drug therapy, Tension-Type Headache drug therapy
- Abstract
We designed a 3-month open label trial of melatonin prophylaxis in children with primary headache. After a one month baseline period without receiving preventive drugs, all children received a 3-month course of melatonin, 3 mg, administered orally, at bedtime. A total of 22 children were enrolled (10 boys, mean age 12.2+/-2.6 years, age range 6-16 years), 13 had recurrent migraine without aura, 1 with aura and 8 had chronic tension-type headache. When the trial ended, 14 of the 21 subjects reported that the headache attacks had decreased by more than 50% in respect to baseline and 4 of them reported having no headache attacks. After receiving melatonin for one month one subject dropped out because of excessive daytime sleepiness. Our promising results warrant randomized placebo-controlled trials in children to assess the real effectiveness of melatonin in preventing primary headache.
- Published
- 2008
- Full Text
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