To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected... more
To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents an...
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A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive... more
A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. The molecular analysis of BSCL2, Laforin and Malin genes was performed to patients and/or their parents by Denaturing High Performance Liquid Chromatography and automated nucleotide sequencing. Skin specimens collected from a patient were processed for histochemical and ultrastructural analysis. The CGL2-PME syndrome co-segregated with two different BSCL2 genotypes: the homozygosity for c.782_783dupG involving exon 8 (two cases), or the compound heterozygosity for c.782_783dupG/c.828_829delAA (one case). Periodic-Acid Schiff positive osmiophilic material in...
Research Interests: Psychology, Epilepsy, EEG, Medicine, Seizure, and 11 moreBrain, Humans, Child, Female, Male, Differential Diagnosis, Skin, Clinical Sciences, Neurosciences, Myoclonus, and Fatal outcome
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Research Interests: Magnetic Resonance Imaging, Electroencephalography, Adolescent, Intellectual Disability, Medicine, and 15 moreMental Retardation, Brain, Humans, Child, Fluorescence in situ hybridization, Female, Male, Gene Duplication, Gene Dosage, Clinical Sciences, Adult, Electrodiagnosis, DUP, Nervous System Diseases, and Neuropsychological Tests
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Research Interests: Autism, Biology, Vitamins, Oxidative Stress, Medicine, and 13 moreHumans, Child, Glutathione, Homocysteine, Oxidative stress and free radical biology and medicine, Biomarker, Biological markers, Biochemistry and cell biology, Child preschool, oxidative stress markers, Free Radical Biology, transsulfuration, and Methylenetetrahydrofolate Reductase
Research Interests: Medicine, Dopamine, Brain, Humans, Caudate Nucleus, and 15 moreFemale, Male, Membrane transport proteins, Clinical Sciences, European, Middle Aged, Single Photon Emission Computed Tomography, Adult, Dopamine Transporter, Radiopharmaceuticals, Methylphenidate, Putamen, Corpus striatum, Attention deficit disorder with hyperactivity, and Attention deficit hyperactivity disorder
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Research Interests: Pediatrics, Epilepsy, Adolescent, Medicine, Brain development, and 15 moreHumans, Male, Hemiplegia, Differential Diagnosis, Lancet, Clinical Sciences, Disease Progression, Elsevier, Early Diagnosis, Neurosciences, Movement Disorder, Child preschool, Frontal Lobe Epilepsy, Medical and Health Sciences, and Paediatrics and reproductive medicine
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To evaluate the spectral and spatial features of the cortical rhythms in patients affected by ring chromosome 20 - [r(20)]-syndrome. Twelve patients with [r(20)] syndrome were studied. As controls we enrolled 12 patients with idiopathic... more
To evaluate the spectral and spatial features of the cortical rhythms in patients affected by ring chromosome 20 - [r(20)]-syndrome. Twelve patients with [r(20)] syndrome were studied. As controls we enrolled 12 patients with idiopathic generalized epilepsy (IGE) and 12 healthy volunteers (HV). Blind source separation, spectral analyses and source reconstruction were applied in all cases in order to identify reliable spatio-temporal patterns of cortical activity. A theta-delta EEG rhythm was identified in [r(20)] patients, with spectral peak ranging between 3 and 7Hz and whose generators mapped over the sensory-motor cortices. A second peak laying at a frequency about double with respect to the first one was present in 6 cases. Analogue methodological approach in HV and IGE groups failed to show similar findings. EEG of [r(20)] patients reveals the existence of a highly reproducible EEG pattern arising from the sensory-motor system. The recognition of this peculiar EEG pattern could help the diagnostic work-up. Additionally, our findings supports the existence of a parallelism between this EEG trait and the physiological "mu" rhythm which is generate by the sensory-motor system. Such link suggests a sensory-motor system dysfunction in [r(20)] patients.
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The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral... more
The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
Research Interests: Medicine, Brain development, Gigantism, Humans, Male, and 14 moreArm, Angiography, Calcinosis, Parietal Lobe, Arteriovenous Malformations, Tuberous sclerosis, Hamartoma, X ray Computed Tomography, Fingers, Brain Neoplasms, Occipital Lobe, Child preschool, Psychology and Cognitive Sciences, and Medical and Health Sciences
The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously... more
The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.
Research Interests: Scanning Electron Microscopy, Electroencephalography, Transmission Electron Microscopy, Medicine, Brain development, and 11 moreBiopsy, Humans, Male, Muscles, Infant, Electromyography, Nervous System Diseases, Myoclonus, nemaline myopathy, Psychology and Cognitive Sciences, and Medical and Health Sciences
This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its... more
This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.
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Research Interests: Cognitive development, Magnetic Resonance Imaging, Electroencephalography, Medicine, Brain development, and 15 moreBrain, Humans, Child, Academic Performance, Language Skills, Female, Male, Lancet, Antiepileptic Drug, Age of Onset, Behavioural Problems, Neurologic Examination, Neuropsychological Tests, Child preschool, and Medical and Health Sciences
Research Interests: Pediatrics, Epilepsy, Adolescent, Medicine, Brain development, and 15 moreBrain, Humans, Child, Mutation, Female, Infant, Head, Genetic variation, Neurodevelopmental Disorder Autism, Clinical Signs, Antiepileptic Drug, Age of Onset, Diagnostic Criteria, Child preschool, and Medical and Health Sciences
The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical... more
The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.
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Research Interests: Genetics, Biology, Medicine, Heterogeneity, Italy, and 15 moreBiological Sciences, Humans, Female, Male, Linkage, Infant, Genetic determinism, Newborn Infant, Elsevier, Likelihood Functions, Genetic Markers, Founder Effect, Molecular Sequence Data, genetic heterogeneity, and Medical and Health Sciences
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Research Interests: Genetics, Biology, Immunohistochemistry, Medicine, Brain, and 15 moreHumans, Mutation, Male, Polymerase Chain Reaction, Infant, Clinical Sciences, ACTA, Degeneration, Glial Fibrillary Acidic Protein, Liver Disease, Neurosciences, Nucleotides, Hepatolenticular degeneration, Purkinje cell, and DNA mutational analysis
Collaborative Group: A. Bianchi (Coordinator) A. Tiezzi, G. Buzzi, C. Fani, P. Zolo (Organizer Centre) A. Antonelli, S. Binelli, D. Buti, M.P. Canevini, A. Carullo, C. Ciarmatori, G. Coppola, P. d’Alessandro, M.R. de Feo, S. di Donatok... more
Collaborative Group: A. Bianchi (Coordinator) A. Tiezzi, G. Buzzi, C. Fani, P. Zolo (Organizer Centre) A. Antonelli, S. Binelli, D. Buti, M.P. Canevini, A. Carullo, C. Ciarmatori, G. Coppola, P. d’Alessandro, M.R. de Feo, S. di Donatok Ch. Durisotti, C.F. Roso, A. Francia, C.A. Galirnberti, R. G., P. Garofalo, P.G. Rossi, C. lani, R. Mai, M. Manfredi, N. Margiotta, R. Massetani, S. Mazza, 0. Mecarelli, A. Parrneggiani, A. Pascotto, S. Ricci, R. Rocchi, G. Romano, A. Saltarelli, M. Santucci, G. Sideri, L. Specchio, A. Tartara, C. Tiacci, G. Vatti, P. Vigliano, L. Volpi
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Research Interests: Genetics, Biology, Adolescent, Intellectual Disability, Medicine, and 15 moreNature, Biological Sciences, Mental Retardation, Humans, Child, Female, Male, Nicotinic Acetylcholine Receptors, Pedigree, Seizures, Syndrome, Inheritance Patterns, Child preschool, Gene frequency, and Medical and Health Sciences
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Myoclonic status in non-progressive encephalopathy (MSNPE) is characterized by the recurrence of long-lasting atypical status epilepticus associated with attention impairment and continuous polymorphous jerks, mixed with other complex... more
Myoclonic status in non-progressive encephalopathy (MSNPE) is characterized by the recurrence of long-lasting atypical status epilepticus associated with attention impairment and continuous polymorphous jerks, mixed with other complex abnormal movements, in infants suffering from a non-progressive encephalopathy. The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epileptic encephalopathies. In this study we assess the efficacy and tolerability of the KD in patients with MSNPE. Between March 1, 1980 and August 31, 2013, 99 patients who met the diagnostic criteria of MSNPE were seen (58 patients in Verona and 41 patients in Buenos Aires). Six of these 99 patients were placed on the KD using the Hopkins protocol and followed for a minimum period of 24 months. Twelve months after initiating the diet, three patients had a 75%-99% decrease in seizures, two had a 50%-74% decrease in seizures, and the remaining child had a less...
Research Interests: Psychology, Medicine, Seizure, Humans, Child, and 6 moreFemale, Male, Clinical Sciences, Neurosciences, Ketogenic diet, and Child preschool
Research Interests: Genetics, Human Genetics, Language Development, Language, Cytogenetics, and 15 moreHumans, Cerebral Cortex, Female, Clinical Genetics, Genome Analysis, Karyotyping, Gene Duplication, European, High Resolution, Gauche, Cortical Thickness, Cortical Dysplasia, Locus, Language Development Disorders, and Chromosome duplication
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Conflict of interest: None of the authors have any conflict of interest to disclose. Jorge G. Burneo jburneo2@uwo.ca Oscar Del Brutto Antonio V. Delgado-Escueta Armando E. Gonzalez Marco T. Medina Silvia M. Montano Luz M. Moyano Theodore... more
Conflict of interest: None of the authors have any conflict of interest to disclose. Jorge G. Burneo jburneo2@uwo.ca Oscar Del Brutto Antonio V. Delgado-Escueta Armando E. Gonzalez Marco T. Medina Silvia M. Montano Luz M. Moyano Theodore Nash Gustavo Roman Gagandeep Singh A. Clinton White Jr Samuel Wiebe Hector H. Garcia Epilepsy Programme, University of Western Ontario, London, Ontario, Canada Hospital-Clinica Kennedy, Guayaquil, Ecuador Epilepsy Center of Excellence, VA Greater LA Healthcare System and David Geffen School of Medicine at UCLA, Los Angeles, California, U.S.A. School of Veterinary Medicine, Universidad Nacional Mayor de San Marcos, Lima, Perffl Cysticercosis Elimination Project. Tumbes, Perffl Instituto Peruano de Parasitologia Clinica y Experimental, Lima, Perffl Universidad Autonoma de Honduras, Tegucigalpa, Honduras US Naval Research Detachment, Lima, Peru Universidad Peruana Cayetano Heredia, Lima, Perffl National Institutes of Health, Bethesda, Maryland, U.S.A. University of Texas Health Sciences Center, San Antonio, Texas, U.S.A. Dayanand Medical College, Ludhiana, India Medical Branch, University of Texas, Galveston, Texas, U.S.A. Department of Neurosciences, University of Calgary, Calgary, Alberta, Canada Department of Transmissible Diseases, Instituto de Ciencias Neurologicas, Lima, Perffl
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Research Interests: Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Brain, Humans, Child, and 15 moreCaudate Nucleus, Female, Drug Resistance, Male, Infant, Differential Diagnosis, Diagnostic Imaging, Clinical Sciences, Atrophy, Disease Progression, Encephalitis, Early Diagnosis, Brain stem, Magnetic resonance image, and Child preschool
The International League Against Epilepsy (ILAE) report lists three well-defined syndromes of idiopathic focal epilepsies in childhood: benign childhood epilepsy with centrotemporal spikes (BCECTS), Panayiotopoulos syndrome (PS), and... more
The International League Against Epilepsy (ILAE) report lists three well-defined syndromes of idiopathic focal epilepsies in childhood: benign childhood epilepsy with centrotemporal spikes (BCECTS), Panayiotopoulos syndrome (PS), and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G). The concept of idiopathic and benign focal epilepsies in childhood is relevant as the term implies absence of structural brain lesions and genetic predisposition in the presence of age-dependent seizures. BCECTS is the most frequent of the benign focal epilepsies in childhood accounting for 15 to 25% of epilepsy syndromes in children below 15 years of age. It is also the most frequent epilepsy syndrome occurring at school age. The prevalence of PS was around 13% in children aged 3 to 6 years with one or more nonfebrile seizures, and 6% in the age group of 1 to 15 years. These figures may be higher if children who are currently considered to have an atypical clinical presentation are included i...
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ABSTRACT
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Research Interests: Pediatrics, Epilepsy, Electroencephalography, Medicine, Brain development, and 15 moreBrain, Humans, Child, Female, Male, Infant, Brain Ischemia, Registries, Retrospective Studies, Prognosis, Disease Progression, Age of Onset, Child preschool, Psychology and Cognitive Sciences, and Medical and Health Sciences
Preliminary evidence suggests a comorbidity between attention-deficit/hyperactivity disorder (ADHD) and obesity. This study was carried out to identify the clinical characteristics of obese adolescents with a higher probability of ADHD... more
Preliminary evidence suggests a comorbidity between attention-deficit/hyperactivity disorder (ADHD) and obesity. This study was carried out to identify the clinical characteristics of obese adolescents with a higher probability of ADHD and advance the understanding of the potential factors underlying the comorbidity between obesity and ADHD. We evaluated the association between ADHD symptoms and bulimic behaviors, depressive and anxiety symptoms, degree of obesity, pubertal stage, age and gender in a clinical sample of obese adolescents. Cross-sectional study. Ninety-nine severely obese adolescents aged 12-17 years. Subjects filled out the Bulimic Investigatory Test, Edinburgh, the Beck Depression Inventory and the State-Trait Anxiety Inventory for Children. Their parents completed the Conners Parent Rating Scale, which assesses ADHD symptoms. The degree of overweight was expressed as body mass index-z score. Puberty development was clinically assessed on the basis of Tanner stages....
Research Interests: Education, Depression, Anthropometry, Adolescent, Anxiety, and 15 moreHumans, Child, Female, Male, Body Mass Index, Beck Depression Inventory, Clinical Assessment, Eating Disorder, ANXIETY, Bulimia, Cross sectional Study, Cross Sectional Studies, Attention deficit disorder with hyperactivity, Attention deficit hyperactivity disorder, and Medical and Health Sciences
Alpers-Huttenlocher disease (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and progressive neurological deterioration, usually associated with signs and symptoms of liver dysfunction. There is... more
Alpers-Huttenlocher disease (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and progressive neurological deterioration, usually associated with signs and symptoms of liver dysfunction. There is no biological marker of the disease, and ultimate diagnosis still relies on pathological examination. Features of clinical progression and pathological findings suggest AHD to be secondary to a genetically determined disorder of mitochondrial function. We report on four AHD patients and focus on their pathological features in brain, liver and muscle. Liver and muscle biopsy specimens were examined using histochemical markers of the oxidative pathways, probes to immunodetect molecules of the apoptotic cascades and electron microscopy. In liver (but not in muscle) biopsy samples, activated caspases were detected by immunohistochemistry: foci of caspase-9-positive cells were seen in a child affected with chronic, progressive fibrosis. In an 18-year-old...
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The neural basis of language and motor deficits in autism is still not completely clear. The aim of this study was to explore the involvement of the parietal lobe in language and motor development in autism, in view of the recognized role... more
The neural basis of language and motor deficits in autism is still not completely clear. The aim of this study was to explore the involvement of the parietal lobe in language and motor development in autism, in view of the recognized role of this region in language and imitation functions. Twenty-eight autistic children underwent an extensive clinical assessment and an MRI examination. A significant direct correlation between age at first word and left parietal gray matter volumes was found (r=0.50, p=0.007). Conversely, age at reaching milestones of motor development, such as the ability to sit and to walk unaided, was not significantly associated with parietal size, after correcting for chronological age and for gender. To the best of our knowledge, this is the first structural MRI report demonstrating a role of left parietal gray matter volumes in delayed language development in autistic children representative of the 'real world' autistic population.
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The authors describe the electro-clinical state of four children having a type of epilepsy clinically characterized by rare partial motor seizures and frequent absences. From E.E.G. point of view they had focal (mainly frontal) and... more
The authors describe the electro-clinical state of four children having a type of epilepsy clinically characterized by rare partial motor seizures and frequent absences. From E.E.G. point of view they had focal (mainly frontal) and diffuse abnormalities. Such diffuse abnormalities became continuous during slow sleep, thus realizing an electrical status epilepticus. During such status partial subclinical seizures were recorded. At the onset such cases have electroclinical features resembling those observed in the form of epilepsy so-called "benign partial epilepsy of children with rolandic or mid-temporal foci". All cases, however, have behavioural problems (instability, desorientation) and decreased school performances. The epilepsy evolution, however, is favourable and such form should consequently be distinguished from the Lennox-Gastaut Syndrome.
Research Interests: Electroencephalography, Humans, Child, Female, Male, and 3 moreSleep, Frontal Lobe, and Child preschool
We report the analysis of scalp topography and dipole modeling of the rolandic spikes in 6 patients suffering of benign rolandic epilepsy of childhood with extremely high amplitude SEP by tapping stimulation of the finger of the hand. EEG... more
We report the analysis of scalp topography and dipole modeling of the rolandic spikes in 6 patients suffering of benign rolandic epilepsy of childhood with extremely high amplitude SEP by tapping stimulation of the finger of the hand. EEG and BESA analysis were performed for both rolandic spontaneous interictal spikes and high amplitude scalp activity evoked by tapping and electrical stimulation of the first finger of the right hand. The evoked responses showed a morphology characterized by a rapid phase (spike) followed by a slow phase (slow wave). The spike presented an early small positive component followed by a main negative component. Similar morphology, dipole configuration and source localization were observed for both rolandic spikes and evoked high amplitude scalp responses. Dipole localization showed an overlap of spatial coordinates between rolandic and evoked spikes. These findings suggest that the extremely high amplitude SEPs could be evoked spikes which probably had the same cortical generators of the spontaneous rolandic spikes.
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We performed a spike topography study and a functional magnetic resonance imaging (fMRI) in a female patient with benign rolandic epilepsy presenting single high-amplitude evoked spikes in response to somatosensory peripheral stimulation.... more
We performed a spike topography study and a functional magnetic resonance imaging (fMRI) in a female patient with benign rolandic epilepsy presenting single high-amplitude evoked spikes in response to somatosensory peripheral stimulation. The stimulus was delivered to the first finger of the right hand using a tendon hammer, which evoked a single spike followed by a slow wave, showing the maximal amplitude over the left central regions. fMRI showed that the contralateral sensory cortices (S1 and S2) and the motor cortex (M I) were activated during tapping stimulation. In 3 normal subjects, tapping stimulation produced no fMRI activation. This fMRI study documents a highly focal activation of sensorimotor areas related to subclinical evoked spikes in benign rolandic epilepsy.