Pareyson D.,Clinic of Central and Peripheral Degenerative Neuropathies Unit |
Piscosquito G.,Clinic of Central and Peripheral Degenerative Neuropathies Unit |
Moroni I.,Child Neurology Unit |
Salsano E.,Clinic of Central and Peripheral Degenerative Neuropathies Unit |
And 3 more authors.
The Lancet Neurology | Year: 2013
Why is peripheral neuropathy common but mild in many mitochondrial disorders, and why is it, in some cases, the predominant or only manifestation? Although this question remains largely unanswered, recent advances in cellular and molecular biology have begun to clarify the importance of mitochondrial functioning and distribution in the peripheral nerve. Mutations in proteins involved in mitochondrial dynamics (ie, fusion and fission) frequently result in a Charcot-Marie-Tooth phenotype. Peripheral neuropathies with different phenotypic presentations occur in mitochondrial diseases associated with abnormalities in mitochondrial DNA replication and maintenance, or associated with defects in mitochondrial respiratory chain complex V. Our knowledge of mitochondrial disorders is rapidly growing as new nuclear genes are identified and new phenotypes described. Early diagnosis of mitochondrial disorders, essential to provide appropriate genetic counselling, has become crucial in a few treatable conditions. Recognising and diagnosing an underlying mitochondrial defect in patients presenting with peripheral neuropathy is therefore of paramount importance. © 2013 Elsevier Ltd.
Verrotti A.,University of Chieti Pescara |
D'Egidio C.,University of Chieti Pescara |
Agostinelli S.,University of Chieti Pescara |
Gobbi G.,Child Neurology Unit
European Journal of Paediatric Neurology | Year: 2012
Impaired glucose transport across the blood-brain barrier results in GLUT1 deficiency syndrome (GLUT1-DS), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular, patients with movement disorders, but without seizures, with paroxysmal exertion-induced dyskinesia, have been reported. Most patients carry heterozygous de novo mutations in the GLUT1-gene but autosomal dominant and recessive transmission has been identified. Diagnosis is based on low cerebrospinal fluid glucose, in the absence of hypoglycemia, and it is confirmed by molecular analysis of the GLUT1-gene and by glucose uptake studies and immunoreactivity in human erythrocytes. Treatment with a ketogenic diet results in marked improvement of seizures and movement disorders. This review summarizes recent advances in understanding of GLUT1-DS and highlights the diagnostic and therapeutic approach to GLUT1-DS. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Specchio N.,Bambino Gesu Childrens Hospital IRCCS |
Trivisano M.,University of Foggia |
Claps D.,Bambino Gesu Childrens Hospital IRCCS |
Battaglia D.,Child Neurology Unit |
And 2 more authors.
Epilepsy and Behavior | Year: 2010
Panayiotopoulos syndrome (PS) is a common childhood susceptibility to autonomic seizures and status epilepticus. Despite its high prevalence, PS has been a source of significant debate. We present ictal EEG documentation of autonomic seizures and autonomic status epilepticus in six cases of PS and a review of 14 reported cases. Interictal EEGs showed spikes of variable locations that often changed with time. Ictal EEG onsets were also variable, starting from wide anterior or posterior regions usually with theta waves intermixed with small spikes and fast rhythms. Ictal vomiting and other autonomic manifestations, as well as deviation of the eyes, did not appear to relate to any specific region of EEG activation. These data document that PS is a multifocal autonomic epilepsy and support the view that the clinical manifestations are likely to be generated by variable and widely spread epileptogenic foci acting on a temporarily hyperexcitable central autonomic network. © 2010 Elsevier Inc.
Ouss-Ryngaert L.,Child Neurology Unit |
Golse B.,Child Psychiatry Unit
Journal of Physiology Paris | Year: 2010
This paper aims to develop the rational to support why and how we should link neuroscience and psychoanalysis. Many of these points are derived from child development and child psychiatry. Neuroscience investigates developmental questions in a different way than psychoanalysis, while psychoanalysis itself has shifted towards new developmental paradigms. The rapprochement between neuroscience and psychoanalysis allows a new understanding of some concepts, including embodiment of mind, consciousness and attachment. The "double reading" paradigm allows a better understanding of symptomatic configurations. Linking neuroscience and psychoanalysis may improve treatments and result in new experimental neuroscientific paradigms involving changing the research object, changing the state of the research object, and investigating the structural changes in the brain following psychotherapy. The last aim is to create an epistemology of the articulation between the theoretical frameworks through phenomenology, "complementarism" and neuropsychoanalysis. We argue that it is necessary for clinicians to be aware of the advancements in each field. This is not only an epistemological question; we assume that new findings in neuroscience will change the way psychoanalysts think and approach treatment of their patients. We hope the present research will contribute to change the way that neuroscientists think and will provide new options to their set of experimental paradigms. © 2010 Elsevier Ltd.
Becker M.M.,Child Neurology Unit
Clinical Neuropharmacology | Year: 2016
OBJECTIVES: The aim of this study was to determine the efficacy and tolerability of gastrin-releasing peptide (GRP) for core symptoms of autism spectrum disorder. METHODS: This is a prospective, open-label study with 160 pmol/kg of GRP tested in 10 children with autism. Outcome measures used were the Clinical Global Impressions-Improvement Scale, Aberrant Behavior Checklist (ABC), Childhood Autism Rating Scale, and Autism Diagnostic Interview-Revised. Positive response was defined as a score of 1 (very much improved) or 2 (much improved) on the Clinical Global Impressions-Improvement Scale and an improvement of 25% or greater on at least 1 subscale of ABC. RESULTS: Six (60%) of the 10 subjects responded to GRP. Improvements were observed on the ABC irritability and hyperactivity subscales in 80% of patients, and 70% exhibited improvement on the social withdrawal subscale. On the Childhood Autism Rating Scale, there was a mean reduction of 4 points (4.3 ± 2.9). Analysis of the Autism Diagnostic Interview-Revised results detected significant improvements in the domain that assesses social interaction, with a mean reduction of 2.4 points (2.4 ± 2.83). Adverse effects occurred in 3 patients. CONCLUSIONS: Gastrin-releasing peptide was safe and well tolerated by most subjects and may be effective for core symptoms of autism. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.