Updates on specific subjects written by European experts and aimed at neurologists, neuro-paediatricians and paediatricians.
This well-known Italian Foundation, active worldwide with training and research projects, provides a constant in-depth observatory on the progress of paediatric neurology.
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Mariani Foundation Paediatric Neurology Series – XXVI
NEUROBIOLOGY, DIAGNOSIS AND TREATMENT IN AUTISM
Editors: Daria Riva, Sara Bulgheroni and Michele Zappella
London-Paris, John Libbey Eurotext Ltd, 2013, pp. 232
This volume provides advances in current knowledge on the diagnosis, neurobiology, pharmacologic therapy, and rehabilitation methods in autism, suggesting a potential influence on professional practice and enabling an up-to-date approach to effective diagnosis and treatment. Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterized by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. It has become clear that causative genes interact with environmental factors in generating the disorder, but the molecular and pathogenic mechanisms causing the expression of the resulting mutations are not at all obvious. The candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms. These topics are reviewed in different presentations. Additionally, since the disorder lasts over the lifetime, other chapters focus on early intervention, discussing the most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres. Finally, strong attention is paid to the psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities.
1) Neurobiology, diagnosis, and treatment in autism: an introduction - Daria Riva
2) New diagnostic instruments and methods for autism spectrum disorders - So Hyun Kim
3) Conventional neuroimaging in autism - Alessandra Erbetta
4) Multimodal imaging of brain connectivity in autism spectrum disorders: an overview - Patrizia Chiesa and Ludovico Minati
5) Autism: the genetic point of view - Orsetta Zuffardi
6) Gene–environment interactions in autism spectrum disorder - Antonio M. Persico
7) GABA is essential for the construction of neuronal circuits early in development: dysfunction in autism spectrum disorders - Rocco Pizzarelli and Enrico Cherubini
8) The role of the immune response in autism spectrum disorders - Paul Ashwood and Milo Careaga
9) New prospects towards more effective medication for ASDs - Roberta Zanni, Silvia Petza and Alessandro Zuddas
10) Pharmacologic treatment of autism in clinical practice - Gabriele Masi
11) The TEACCH approach to working with individuals on the autism spectrum: understanding, educating, empowering - Steven E. Kroupa
12) Experience using the TEACCH program at the Autism Center of AO San Paolo in Milan: applications and critical aspects - Monica Saccani
13) Applied Behaviour Analysis and the analysis of verbal behavior in treating autism - Judah B. Axe
14) Applied Behaviour Analysis: the Italian experience of the Scuolaba Model for children with autism spectrum disorders - Lucia D’Amato
15) DIR–Developmental, Individual Difference, Relationship-Based Model: the sensory-motor affect connection to progress - Serena Wieder
16) The DIR model in treating autism: an Italian experience - Filippo Muratori and Giulia Campatelli
17) Imitation in autism spectrum disorders: from research to treatment - Giacomo Vivanti
18) Speech and language therapy intervention from the perspective of a multi-professional approach - Luciano Destefanis and Giuseppe Maurizio Arduino
19) Early psychomotor intervention in the treatment of young children with autism spectrum disorder - Roberto Militerni, Alessandro Frolli, Giovanna Gison, Guido Militerni and Ivana Sozio
20) Social skill training in autism spectrum disorders - Massimo Molteni and Sara Forti
Complementary and alternative therapies
21) A review of methods for facilitating speech in nonverbal children with ASD - Allison Landers, Gottfried Schlaug and Catherine Y. Wan
22) Complementary and alternative medicine in treating autism: myths and reality - Laurence Robel
Mariani Foundation Paediatric Neurology Series – XXV
BRAIN LESION LOCALIZATION AND DEVELOPMENTAL FUNCTIONS
Frontal lobes - Limbic system - Visuocognitive system
Editors: Daria Riva, Charles Njiokiktjien and Sara Bulgheroni
London-Paris, John Libbey Eurotext Ltd, 2011, pp. 288
This volume discusses the neural networks that process higher cognitive functions and behaviour patterns during the child’s developmental period. It takes as its point of departure the work presented in the previous volume, which dealt with basal nuclei, connection systems, cerebellum, and mirror neurons, and then focuses on the frontal lobes, the limbic system (hippocampus and amygdala) and visuocognitive systems. In the section on frontal lobes, the role of the mirror neurons’ parieto-frontal system is explained, followed by a discussion of disorders such as epilepsy, frontal lobe trauma, learning difficulties, and a whole range of neuropsychiatric disturbances. The chapters dedicated to the limbic system look at the hippocampus in relation to memory, language difficulties and associated behavioural disorders (including problems of attachment), and at the role of amygdala in autism and relational deprivation. A final section is dedicated to visual and visuocognitive functioning in children with focal brain lesions, prematurity, and neurodevelopmental disorders.
1) Higher cognitive function processing in developmental age: specialized areas, connections and distributed networks – Daria Riva
2) Frontal lobes: anatomy, connections and functions - Alessandra Erbetta
3) Role of the parieto-frontal mirror system - Leonardo Fogassi
4) Memory and frontal lobe in typical and atypical development - Stefano Vicari, Floriana Costanzo, Pamela Varvara and Deny Menghini
5) Development of executive function - Giovanni Valeri
6) Neuropsychology of epilepsies involving the frontal lobe in children - Chiara Vago, Sara Bulgheroni and Daria Riva
7) Social problem-solving after traumatic brain injury in children - Gerri Hanten, Elisabeth A. Wilde and Harvey S. Levin
8) The role of phonological working memory in specific language impairment - Daniela Brizzolara, Claudia Casalini, Anna Chilosi and Chiara Pecini
9) Neuroanatomic organization and fundamental functions of the hippocampus and amygdala - Pierre Lavenex
10) Early hippocampal disease and memory disorders - Daria Riva, Arianna Usilla, Chiara Vago and Sara Bulgheroni
11) Language disorders in children with morphologic abnormalities of the hippocampus - Josette Mancini, Guillaume Agostini, Nathalie Villeneuve, Mathieu Milh, Florence George, Brigitte Chabrol and Nadine Girard
12) Hippocampus, neurotrophic factors, and depression: possible targets for antidepressant medication - Gabriele Masi, Paola Brovedani and Angela Magazù
13) The role of the hippocampus in neural mechanisms of attachment and attachment disorders: a review - Charles Njiokiktjien and Catharina Anna Verschoor
14) Music, emotions and the limbic system - Maria Cristina Saccuman, Guido Andreolli and Danilo Spada
15) The amygdala and the pathophysiology of autism - Baris Korkmaz
16) Long-term neurobiologic impact of extreme early institutional deprivation in the English and Romanian Adoptees study: initial findings and future plans - Edmund J.S. Sonuga-Barke, Robert Kumsta and Mitul A. Mehta
17) Visual field defects and visual search abilities in children with focal brain lesions - Giovanni Cioni and Francesca Tinelli
18) Neurophysiologic and behavioural aspects of visual assessment: correlation with neuroimaging - Oliver Braddick and Janette Atkinson
19) Linked brain development for vision, visual attention and visual cognition in typical development and in developmental disorders - Janette Atkinson and Oliver Braddick
20) Visuocognitive and visual disorders in children born preterm - Sara Bulgheroni, Chiara Treccani, Daria Riva, Giovanni Cioni and Francesca Tinelli
Mariani Foundation Paediatric Neurology Series – XXIV
NEW DIAGNOSTIC AND THERAPEUTIC TOOLS IN CHILD NEUROLOGY
Editors: Eugenio Mercuri, Ermellina Fedrizzi and Giovanni Cioni
London-Paris, John Libbey Eurotext Ltd, 2011, pp. 140
This book provides a comprehensive review and update of the newest diagnostic and therapeutic tools in paediatric neurology. Special attention is paid to neuroradiologic and neurophysiologic techniques and to their clinical application, with guidelines and suggestions on how an integrated approach can be used to reach diagnosis. Some of the chapters focus on the newborn infant and the first years of life, highlighting the most appropriate MRI, clinical, and EEG techniques to investigate the developing brain. State-of-the-art techniques used in older children are also presented that afford a better understanding of the correlation between function and brain structure in young patients with brain lesions. New genetic discoveries are particularly emphasized, as is the possibility of performing accurate phenotype–genotype correlation by combining the latest methods, such as muscle MRI and genetic information, in order to identify MRI patterns associated with specific genetic disorders. In all chapters an effort is made to combine technical data with clinical applications in order to show, when possible, how these novel procedures can also be used in rehabilitation. This book will be of interest to paediatricians, paediatric neurologists, neonatologists, and to all those who are involved in the diagnosis and care of children with neurologic disabilities.
1) Effect of treatment of subclinical neonatal seizures detected with aEEG: randomized, controlled trial – L.G.M. van Rooij, M.C. Toet, L.S. de Vries et al.
2) Neurologic assessment and cerebral MRI in preterm infants – L. Lugli, I. Guidotti, N. Bertoncelli and F. Ferrari
3) Neuroimaging techniques: general concepts - Luca A. Ramenghi
4) Diffusion MR techniques to study the neonatal brain – N. Tusor, S. Counsell and M. Rutherford
5) Visual development: new tools for assessment in the neonatal period – D. Ricci, D. Romeo and E. Mercuri
6) Brain transcranial stimulation: diagnostic and therapeutic applications – F. Ranieri, P. Profice, V. Di Lazzaro et al.
7) High-density electroencephalography – G. Avanzini and F. Panzica
8) Diagnosis of auditory processing disorders – E. Genovese, M. Vallarino, M.C. Guarnaccia and D. Monzani
9) Muscle MRI: phenotype–genotype correlation – E. Mercuri, F. Bianco, G. Vasco and M. Pane
10) Functional MRI in children: clinical applications – A. Zsoter and M. Staudt
11) Clinical and instrumental assessment of the upper limb in cerebral palsy – G. Sgandurra and G. Cioni
12) Robotics and rehabilitation: new perspectives – S. Mazzoleni, P. Dario and M.C. Carrozza
Mariani Foundation Paediatric Neurology Series – XXIII
LYSOSOMAL STORAGE DISEASES - Early diagnosis and new treatments
Editors: Rossella Parini and Generoso Andria
London-Paris, John Libbey Eurotext Ltd, 2010, pp. 187
The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysosomal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysosomal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if administered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialized centre is emphasized in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.
1) Lysosomal storage disorders: commonalities and differences – L. Astarita, M. Sibilio and G. Andria
2) Lysosomal storage disorders—epidemiology, biochemistry, and genetic: how to read and interpret biochemical and molecular tests - M. Filocamo and A. Morrone
3) Organizational and ethical aspects of newborn screening for lysosomal storage disease – C. Corbetta and L. Alberti
4) Pathophysiologic aspects of lysosomal storage disorders – C.M. Bellettato, R. Tomanin and M. Scarpa
Clinical presentations in detail: Mucopolysaccharidoses and Anderson-Fabry disease
5) Early signs and symptoms for the timely diagnosis of mucopolysaccharidosis – M.L. Melzi, F. Furlan and R. Parini
6) Anderson-Fabry disease in children - R. Parini and F. Santus
Mucopolysaccharidoses from the specialists’ point of view
7) Epilepsy in mucopolysaccharidosis: clinical features and outcome – D. Grioni, M. Contri, F. Furlan, M. Rigoldi, A. Rovelli, R. Parini
8) Psychological assessment and support for patients with mucopolysaccharidosis – M. Marini and A. Gamba
9) Mucopolysaccharidosis: radiologic findings – M. Grimaldi, D. Di Marco, P. Remida
10) Anaesthesia for children with mucopolysaccharidosis – P. Ingelmo and E. Sahillioglu
11) Neurosurgical complications and their management in mucopolysaccharidosis – C. Giussani, S. Miori and E.P. Sganzerla
Specific treatments for lysosomal storage diseases
12) Enzyme replacement therapy in lysosomal storage disorders: clinical effects and limitations – M. Beck
13) Gaucher disease: clinical follow-up and management with individualized treatment – E. Cassinerio, I. Motta, M.D. Cappellini
14) Enzyme replacement therapy in glycogenosis type II – G. Ciana and B. Bembi
15) Haematopoietic stem cell transplantation for lysosomal storage diseases – G. Lucchini, P. Corti, A. Rovelli
16) Allogeneic stem cell transplantation for Hurler syndrome: graft outcome and long-term clinical outcomes – J.J. Boelens and M. Aldenhoven
17) Hematopoietic stem cell gene therapy for metachromatic leukodystrophy – A. Biffi and L. Naldini
Mariani Foundation Paediatric Neurology Series – XXII
BRAIN LESION LOCALIZATION AND DEVELOPMENTAL FUNCTIONS
Editors: Daria Riva and Charles Njiokiktjien
London-Paris, John Libbey Eurotext Ltd, 2010, pp. 242
Advances in the neurocognitive sciences, aided by increased imaging power, have extensively confirmed that during early development specific areas of a child’s brain are designed to process specific functions—neurologic, cognitive, linguistic, motoric, and visuospatial, among others—and that this processing involves globally complex interconnections with other areas distributed throughout the brain: a lesion in a given area interferes with the functioning and coherence of the system as a whole. This volume discusses the consequences of early brain injury to many parts of the brain, including the basal ganglia, with their related disorders of aphasia, OCD, and AD/HD, as well as white matter and its associated neuropsychological impairment of intelligence, language, and visuoperception. The corpus callosum and cerebellum are studied as they relate to learning motor sequences and language as well as communication disorders and social behavior. This book also looks at mirror neurons as they affect the understanding of others’ intentions and the development of empathy and gestural and other forms of language. The implications of these findings are examined since they have a critical effect on the rehabilitative and educational efforts that are being designed to mitigate the effects of early brain lesions on the growing child.
1) Cognitive development after early brain lesions: implications for reorganization of function and distributed networks - Harvey S. Levin and Elisabeth A. Wilde
2) Basal ganglia and thalamus: connections and functions - Alessandra Erbetta
3) Aphasia in children with basal ganglia lesions - Philippe F. Paquier
4) Neuropsychiatric disorders of the basal ganglia: the neurobiology of Tourette syndrome, obsessive-compulsive disorder, and attention deficit hyperactivity disorder – Sara Carucci, Silvia Paba, Carmen Puddu, Gianluigi Melis and Alessandro Zuddas
5) Phenomenology of obsessive-compulsive disorder and clinical implications of its comorbidity with Tourette syndrome and attention deficit hyperactivity disorder - Gabriele Masi
6) Long-term cognitive and neuropsychological outcome of brain alterations in preterm infants - Daria Riva, Sara Bulgheroni, Arianna Usilla, Chiara Treccani, Veronica Saletti, Silvia Esposito and Chiara Vago
7) Prematurity: visuo-perceptual disorders - Elisa Fazzi, Stefania M. Bova, Alessia Giovenzana and Sabrina G. Signorini
8) Multiple sclerosis in children and adolescents: neurocognitive disorders - William S. MacAllister
9) Corpus callosum malformation in developmental disorders - Lynn K. Paul
10) The cerebellum as a multipurpose neural machine: basic principles and future perspectives - Brunello Ghelarducci
11) The role of the cerebellum in processing higher cognitive and social functions in congenital and acquired disease in developmental age - Daria Riva, Chiara Vago, Arianna Usilla, Chiara Treccani, Chiara Pantaleoni, Stefano D’Arrigo, Sara Bulgheroni
12) The role of cerebellar structures in communication and language disorders - Alessandro Tavano and Renato Borgatti
13) Developmental dyspraxias: assessment and differential diagnosis – Charles Njiokiktjien
14) Broca’s area in language, action, and music - Luciano Fadiga, Laila Craighero and Alessandro D’Ausilio
15) Gesture for speaking and gesture for thinking in children with typical and atypical development: a new theoretical framework - Olga Capirci, Maria Cristina Caselli and Valerio De Angelis
16) Using gestural communication for language rehabilitation - Bruna Molteni, Gloria Airaghi and Daniela Sarti
17) Mirror neurons and congenital cerebral lesions - Andrea Guzzetta
Mariani Foundation Paediatric Neurology Series – XXI
NEUROLOGY OF THE INFANT
Editor: Francesco Guzzetta
London-Paris, John Libbey Eurotext Ltd, 2009, pp. 344
Recent advances in the field of developmental neuroscience have been quite exciting, especially as they pertain to infants and children, in whom neurologic development proceeds more rapidly than at any other time of life. So much has now been learned of normal neurologic development, which in turn informs the more pressing work of understanding how these normal functions become disordered by genetic, physical, or neurochemical mishaps. The information thus gained can, it is hoped, provide clinicians with the means to improve both their diagnostic and therapeutic tools and, more importantly, to use this understanding in the service of preventing or mitigating the effects of these childhood neurologic disorders. The physiologic and pathologic signs of neurologic diseases are better understood in the light of the current gains made in the fields of paediatric neurophysiology, neurochemistry, neuroimaging, and genetics. This progress in knowledge can assuredly help the clinician to recognize the nature of the disorder and to plan the most appropriate and effective measures to improve the quality of the affected child’s life.
This volume, a special issue in collaboration with John Libbey Eurotext, celebrates the 25th year of existence of the Mariani Foundation, whose mission is to provide paediatric neurologists and all clinicians with the most current knowledge in order to care for children with neurologic disabilities and their families towards achieving the best life they can have.
1) Developmental assessment: neurological examination - Eugenio Mercuri, Giovanni Baranello and Daniela Ricci
2) Developmental assessment: functional techniques - Andrea Guzzetta
3) Psychomotor development: the beginning of cognition - Francesco Guzzetta
4) Malformations of cortical development - Francesco Guzzetta, Cesare Colosimo and Tommaso Tartaglione
5) Early brain injuries: infantile cerebral palsy - Francesco Guzzetta
6) Congenital defects: a clinical approach - Giuseppe Zampino
7) Early intervention - Giovanni Cioni, Giulia D’Acunto and Paola Bruna Paolicelli
8) Metabolic disorders - Enrico Bertini and Carlo Dionisi-Vici
9) Brain tumours - Luca Massimi, Gianpiero Tamburrini and Concezio Di Rocco
10) Epilepsy in infancy - Francesco Guzzetta and Domenica Battaglia
11) Paroxysmal non-epileptic disorders - Federico Vigevano, Raffaella Cusmai and Nicola Specchio
12) The infant with neuromuscular disorders - Eugenio Mercuri, Paolo Alfieri and Marika Pane
13) Peripheral neuropathies - Francesco Guzzetta
Mariani Foundation Paediatric Neurology Series – XX
GENETICS OF EPILEPSY AND GENETIC EPILEPSIES
Editors: Giuliano Avanzini and Jeffrey Noebels
London-Paris, John Libbey Eurotext Ltd, 2009
This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenomena associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.
1) Genetic determinants in the epilepsies - Eva Andermann
2) Genes and the biology of complex epilepsy phenotypes - Jeffrey L. Noebels
3) Genes relevant to epileptogenic mechanisms - Katarzyna Majak and Asla Pitkänen
4) Definition of the phenotype for genetic studies - Amedeo Bianchi
5) Epilepsies due to epileptogenic channel gene mutations – Antonio Gambardella et al.
6) Functional analysis of epileptogenic ion channel mutations - Massimo Mantegazza and Giuliano Avanzini
7) Genotype-phenotype relationships in epilepsies caused by channel mutations - Beatriz G. Giraldez et al.
8) Genetic determinants of the migraine-epilepsy association - Filippo Dainese and Francesco Paladin
9) The concept of idiopathic epilepsy - Giuliano Avanzini and Bernardo Dalla Bernardina
10) Genetic causes of neonatal epileptic and non-epileptic events: channelopathies as the aetiology of seizures and epilepsies in the neonatal period - Massimo Mastrangelo et al.
11) Monogenic epilepsies due to mutations of genes that do not code for ion channels: autosomal dominant lateral temporal lobe epilepsy - Roberto Michelucci et al.
12) The spectrum of sodium channels related clinical entities - Federico Vigevano and Nicola Specchio
13) Epileptic syndromes associated with disorders of cortical development - Frederick Andermann
14) Maturation and migration determinants of corticogenesis - Roberto Spreafico et al.
15) Developmental basis of epilepsy and seizure susceptibility: role of Otx genes - Yuri Bozzi et al.
16) Cortical dysplasias of genetic origin - Elena Parrini et al.
17) Periventricular nodular heterotopia: clinical and genetic findings - Giorgio Battaglia et al.
18) Electroclinical features in malformations of cortical development - Francesca Ragona et al.
19) Progressive myoclonus epilepsies: genotype-phenotype relationships - Silvana Franceschetti et al.
20) Autosomal recessive progressive myoclonus epilepsy - Jean-Marie Girard et al.
21) Pharmacogenetics of drug resistance in epilepsy - Sanjay Sisodiya
22) Gene therapy and pathogenic therapy - Graziella Uziel and Giovanni Tricomi
23) The ketogenic diet - Pierangelo Veggiotti and Daniela Brazzo
Mariani Foundation Paediatric Neurology Series – XIX
Editors: Luca Ramenghi, Philippe Evrard and Eugenio Mercuri
London-Paris, John Libbey Eurotext Ltd, 2008, PP. 264
This volume is based on a highly successful conference dedicated to ‘Perinatal brain damage: from pathogenesis to neuroprotection’. Neonatologists, paediatricians, paediatric neurologists, obstetricians, basic researchers involved in neurosciences, as well as rehabilitation professionals, will be interested by this ensuing publication.
The volume covers pathogenic aspects of brain lesions occurring in the fetal and neonatal period, and addresses the issues of diagnostic workup and treatment.
The most authoritative basic researchers, clinicians, and specialists in the field of neuroimaging, provide chapters on recent clinical advances.
A subject of particular importance is the neurological vulnerability of the preterm infant, which also touches on ethical aspects of the care of high-risk preterm babies and those born from multiple pregnancies.
A particularly original session focuses on cerebral white matter and the many issues related to this crucial part of the developing brain. Experts also deal with cerebral visual impairment, motor development, cognitive function, and the mechanisms underlying the neuronal plasticity of the infant’s brain.
Concepts of europrotection are also outlined, based on pharmacological agents tested on experimental animals and the best drugs used to treat neonatal convulsions.
Mariani Foundation Paediatric Neurology Series – XVIII
Editors: Daria Riva, Sara Bulgheroni, Chiara Pantaleoni
Pubblicazione conseguente al III Corso di formazione permanente in Neuroscienze cognitive dello sviluppo (Orvieto, 15-17 novembre 2006)
London-Paris, John Libbey Eurotext Ltd, 2007, pp. 240
This book provides a comprehensive update on multiple aspects of the wide-ranging topic of mental retardation.
The opening part of the volume is dedicated to the definition of mental retardation and to the various classification systems, within an epidemiologic perspective. A second core section presents the neuropsychology of mental retardation, considering both the global approach to the identification of the different deficits present in this condition, and the definition of specific cognitive-behavioural phenotypes possibly related to distinct genetic syndromes or gene defects.
Of particular interest are some contributions to the neurological diagnosis of mental retardation, providing the clinical description of several specific disorders and genetic syndromes, and outlining the essential diagnostic input provided by genetic tests.
The psychiatric comorbidity of mentally retarded subjects is presented, and specific chapters are geared to the medical treatment of mental retardation and the psychopharmacology of the associated neuropsychiatric disorders.
A final section deals with several cognitive, psycho-pedagogic, and psycho-educative rehabilitation approaches focusing on the lifelong disability deriving from mental retardation.
Mariani Foundation Paediatric Neurology Series – XVII (+DVD)
Editors: Nardo Nardocci and Emilio Fernandez-Alvarez
Text in English
John Libbey Eurotext Ltd, 2007, pp. 178
Movement disorders in children: a clinical update with video recordings covers a wide range of disease conditions that are characterized by involuntary movements possibly associated with signs of more diffuse dysfunction of the nervous system. These include both genetically determined and acquired conditions, running a clinical course that may be progressive, static, or paroxysmal.
Recent years have witnessed growing interest in the movement disorders of children. There has been an increase in our understanding of the pathogenesis of these disorders, and new perspectives for their diagnosis and treatment have emerged. This book aims to provide neurologists, paediatricians, and specialists in developmental medicine with a comprehensive update on these issues.
The more recent advances on dystonias, neurotransmitter disorders, chorea and PANDAS, tics and Tourette syndrome, paroxysmal dyskinesias, psychogenetic movement disorders and other specific syndromes and diseases — such as opsoclonus-myoclonus, rapid onset dystonia-parkinsonism, pantothenate kinase-associated neurodegeneration and Rett syndromes — are illustrated, and current topics on genetics, biochemistry, brain imaging, physiological investigations, quantitative assessment, and the pharmacological and surgical treatment of childhood movement disorders are covered.
The book also includes significant video documentation which we trust may be a helpful and crucial contribution for all professionals involved in the field of movement disorders, where the correct semiologic definition of the different conditions is one of the most important but problematic steps in the diagnostic work-up.
1) Nosography and semiology of movement disorders in childhood - Lucia Angelini
2) The genetics of dystonia - Barbara Garavaglia
3) Neuroradiological findings in paediatric movement disorders - Luisa Chiapparini
4) Neurophysiological investigations in movement disorders - Silvana Franceschetti
5) Quantitative assessment of paediatric movement disorders - Renata Bono
6) Primary dystonia - Giovanna Zorzi
7) Update on myoclonus-dystonia - Enza Maria Valente
8) Pharmacological treatment of childhood dystonia - Agathe Roubertie
9) Deep brain stimulation of the globus pallidus internus for the treatment of childhood-onset
dystonia - Giovanni Broggi
10) Dopa-responsive dystonias/dyskinesias (DRDs): diagnosis and monitoring of the treatment -
11) Clinical and aetiological spectrum of dopa-responsive syndromes - Nardo Nardocci
12) Sydenham’s chorea - Francisco Cardoso
13) Opsoclonus-myoclonus syndrome - Michael R. Pranzatelli
14) Pantothenate kinase-associated neurodegeneration - Susan J. Hayflick
15) Functional (psychogenic) movement disorders in childhood - Robert Surtees
16) Movement disorders in Rett syndrome - Teresa Temudo
17) Rapid-onset dystonia-parkinsonism - Mary D. King
18) Alternating hemiplegia of childhood (AHC) - Giuseppe Gobbi
Mariani Foundation Paediatric Neurology Series – XVI
Editors: Daria Riva, Isabelle Rapin e Giovanna Zardini
Pubblicazione conseguente al II Corso di Formazione permanente in euroscienze cognitive dello sviluppo (Salsomaggiore, 24-26 novembre 2004)
London-Paris, John Libbey Eurotext Ltd, 2006, pp. 265
This comprehensive monograph is dedicated to the late Dr. Elizabeth Bates of San Diego and Romewho built so many bridges between brain development and function in a variety of languages. It updates progress in understanding children’s language learning and its pathologies. It stresses the neurologic basis of normal language acquisition and the consequences of a variety of disorders using such tools as detailed analysis of language comprehension, production, and use, as well as
functional brain imaging, and electrophysiology. It also underlines the importance of subcortical circuitry and inner speech, and reviews the unfolding or regression of language in focal brain lesions, autism, Williams syndrome, and developmental disorders of oral and written language.
Mariani Foundation Paediatric Neurology Series – XV
Editors: Paolo Curatolo and Daria Riva
Pubblicazione conseguente al XVI Corso di Aggiornamento in neurologia infantile
London-Paris, John Libbey Eurotext Ltd, 2006, pp. 238
Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Mariani Foundation Paediatric Neurology Series – XIV
Editors: Daria Riva and Isabelle Rapin
Atti del XV Corso di Aggiornamento in neurologia infantile
Cittadella di Assisi, Teatro Auditorium, 19-21 marzo 2003
London-Paris, John Libbey Eurotext Ltd, 2005, pp. 224
Autism is a complex disorder of neurodevelopment resulting in pervasive abnormalities in social interaction and communication, repetitive behaviours and restricted interests. It presents difficult challenges to physicians and other professionals, educators, and especially to the parents and families of affected individuals.
The aim of this volume is to provide an update on this multi-faceted condition, and to review a number of its major features, in particular its biology, genetics, and current understanding of its brain basis. The book emphasizes the importance of early detection, and spells out appropriate steps for clinical diagnosis and investigations such as neuropsychology, electrophyhsiology, and imaging.
Of particular interest are chapters that focus on differential diagnosis, advances in neurogenetics and molecular biology, possible consequences of immunizations, and the relation between autism and epilepsy.
A variety of treatment options are presented from the perspectives of practitioners of several disciplines, including a number of current educational approaches. This provides the opportunity to compare them and decide which best fits the needs of differently affected persons. The choice of potential pharmacologic agents to consider is enhanced by a review of the brain neurotransmitters they are designed to influence.
Quality of life for the affected individuals and their families must be the focus when planning comprehensive interventions. Needs span infancy to adulthood and change with maturation. The voice of parents provides a welcome perspective on their requirements and recommendations for improvement in current practices.
Mariani Foundation Paediatric Neurology Series – XIII
Editors: Daria Riva , Ursula Bellugi and Martha Bridge Denckla
Atti del I° Corso di formazione permanente in Neuroscienze cognitive dello sviluppo
Portofino Vetta (GE), 21-23 novembre 2002
London-Paris , John Libbey Eurotext Ltd, 2005, pp. 151
In recent years our approach to neurodevelopmental disorders has undergone extraordinary change.
This has resulted from tremendous progress in various different disciplines including developmental neuroscience, behavioural and molecular genetics, and developmental neurobiology, and from the very high quality now achievable in neuroimaging and neurophysiological techniques.
This publication aims to provide a concise and interdisciplinary approach to the study of the different cognitive/behavioural phenotypes encountered in a wide range of neurodevelopmental disorders. Starting from methodological, nosographic, and assessment premises, the book deals with selected disorders of a defined but still complex genetic aetiology, and concludes with a description of the neuropsychiatric disorders that are most commonly encountered during development.
Mariani Foundation Paediatric Neurology Series – XII
Editors: G.Uziel e F.Taroni
Atti del XIII Corso di Aggiornamento in neurologia infantile
Bergamo, Centro Congressi Giovanni XXIII, 14-16 marzo 2001
London-Paris, John Libbey Eurotext Ltd., 2004, pp.175
Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication.
The book is developed over different sections. The basic aspects of myelin biology and their relevance to human diseases constitute the first section of the book. A second and third section deal with the clinical aspects of both defined and undefined leukoencephalopathies, and with the impact of neurophysiological and neuroimaging techniques on the diagnosis and nosology of these disorders. Hereditary disorders of peripheral myelin are reviewed in the fourth section, while the
closing section focuses on crucial issues of the different therapeutic approaches now available.
The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.
Mariani Foundation Paediatric Neurology Series – XI
Editors: A.Beaumanoir, F.Andermann, P.Chauvel, L.Mira and B.Zifkin
Atti del VI Colloquio Internazionale in Epilettologia Infantile
Milano, Aula Magna dell'Università degli Studi, 25-27 ottobre 2000
London-Paris, John Libbey Eurotext Ltd, 2003, pp.230
Frontal seizures and epilepsies in children is a comprehensive international review of basic and clinical research based on the Mariani Foundation Colloquium on frontal lobe epilepsy in childhood and adolescence held at the Milan State University in October 2000. Distinguished authors discuss advances in neurogenetics, neuropsychology and imaging. Autosomal dominant frontal lobe epilepsies and their relations to ion channel dysfunction, and noninvasive exploration of frontal lobe
function in humans and non-human primates receive particular attention.
This book describes clinical, electroencephalographic and neuroimaging patterns of frontal lobe epilepsy in detail and reviews advances in medical and surgical treatment.
Frontal lobe epilepsy arises in so large and complex a structure that not surprisingly, frontal lobe seizures can develop in any of several brain areas and can spread over different pathways with clinical manifestations ranging from the subtle to the obvious in children and adults. Frontal seizures and epilepsies in children devotes several chapters to the central role of frontal lobe maturation in behaviour and cognitive and linguistic development, and to the disorders of frontal lobe function that may occur in frontal lobe epilepsies in the pediatric age group. Many of these occur in well-known epileptic disorders of particular interest to pediatric neurologists such as the Lennox-Gastaut syndrome, and the relations between these and recent advances in understanding frontal lobe epilepsies are also explored.
This volume in the Mariani Foundation Paediatric Neurology series discusses frontal lobe epilepsy and its associated disturbances of brain structure and function in all their complexity. It will be useful and stimulating reading for pediatric and adult epilepsy specialists, psychiatrists, neuropsychologists and other behavioural scientists, and research workers in epileptology.
Mariani Foundation Paediatric Neurology Series – X
Editors: L. Angelini, M. Bardare, A. Martini
Atti del XI Corso di Aggiornamento in neurologia infantile
Bergamo, Centro Congressi XXIII, 1-3 marzo 1999
London, John Libbey, 2002, pp. 284
ISBN 0 86196 631 7
Immunopathogenesis has recently been receiving increased interest from researchers, leading to a better understanding of the mechanisms of neurological disorders and consequently to new diagnostic approaches and therapeutic perspectives. Clinical neuroimmunology in childhood is the focus of the present volume.
This book is divided into three sections. The first part deals with the relationship between the immune and the nervous systems, from antigen presentation to autoimmunity and its role in neurological disease.
In the second part, the nosography of immune-mediated neurological diseases in children is described, including those primarily involving the central nervous system and those secondary to systemic immunological disorders.
The last part of the book is devoted to diagnostic and therapeutic criteria and treatment options available or under investigation.
The main objective of this book is to promote interdisciplinary discussion in order to achieve an integrated approach to clinical topics crossing-over between the disciplines.
Mariani Foundation Paediatric Neurology Series – VIII
Editors: G. Avanzini, A. Beaumanoir, L. Mira
Atti del V Colloquio internazionale in epilettologia infantile, Milano, Aula Magna dell’Università degli Studi, 7 - 9 maggio 1998
London, John Libbey, 2001, pp. 258
ISBN 0 86196 595 7
The aim of the colloquium from which this multi-author book derives, was to outline the specific expression of epilepsies involving the limbic structures in children and to establish a consensus on the evidence relevant to the clinical management of these epilepsies.
This latest book in the Mariani Foundation Paediatric Neurology series, addresses basic questions such as age-related aetiologic, pathogenetic and prognostic factors relevant to the course of infantile epilepsies with limbic seizures, and enlightens the criteria for their clinical and laboratory assessment. The interaction between basic scientists, neuropaediatricians and neurosurgeons contribute to define suitable strategies aimed at preventing the unfavourable course of these often severe infantile epilepsies and their optimal timing.
Mariani Foundation Pediatric eurology Series – IX
Editors: D. Riva, A. Benton
Atti del VIII Corso di Aggiornamento in neurologia infantile (Assisi, La Cittadella, 4 - 6 marzo 1995)
London, John Libbey, 2000, pp. 165
ISBN 0 86196 599 X
The study of neuropsychological functions in children has lately undergone a considerable evolution, most obviously represented by the evidence that cerebral areas of the child's brain are specialised at a very early stage. Such evidence has been derived from a number of anatomical, physiological and clinical studies. This book examines and defines the pictures of any deficient function, or of several, in relation to lesions of different cerebral areas, thereby indirectly demonstrating the role of these areas in neuropsychological development.
Mariani Foundation Paediatric Neurology Series – VII
Editors: R. Spreafico, G. Avanzini, F. Andermann
Atti del IV Colloquio in epilettologia infantile, Venezia, San Servolo, 2 - 4 ottobre 1997
London, John Libbey, 1999, pp. 324
ISBN 0 86196 579 5
Thanks to advanced imaging techniques, it is now possible to recognise in vivo structural alterations of the cortex leading in many patients to epileptic syndromes, frequently resistant to pharmacological treatment. Areas analysed in this book are: mechanisms of cortical development; animal models of neuronal migration disorders mimicking human pathology; electroclinical, neuroradiological and neuropathological studies of the different forms of cortical dysplasia. This volume includes contributions from neurologists, epileptologists, neuropaediatricians as well as paediatricians and neuroscientists, stimulating a multidisciplinary discussion to improve diagnostic and therapeutic strategies.
Mariani Foundation Paediatric Neurology Series - VI
Editors: A. Beaumanoir, F. Andermann, G. Avanzini, L. Mira
Atti del III Colloquio in epilettologia infantile, Milano, Università degli Studi, 12 - 14 ottobre 1995
London, John Libbey, 1997, pp. 223
ISBN 0 86196 540 X
At the Mariani Foundation meeting held in Milan, October 1995, highly qualified specialists were invited to assist in understanding of the basic principles of cerebral development and brain function, with specific attention to those structures and mechanisms involved in the phenomenon of falls.
Epileptologists illustrate the different semiologic modalities and clinical conditions in which the fall is an essential symptom. A main part of the book is dedicated to the medical and surgical treatment of syndromes where falls appear in the foreground.
This volume has the mission of improving life conditions of children who suffer from drop seizures, by limiting the risks to which they are subjected, and to try and compensate for the psychological and social limitations affecting them.
Prognostic factors relevant to clinical, psychological and social aspects are also extensively discussed, in order to complete this first extensive study of a complex and fascinating phenomenon.
Mariani Foundation Paediatric Neurology Series - V
Editors: E. Fedrizzi, G. Lanzi, F. Cornelio
Atti del V Corso di Aggiornamento in neurologia infantile, Pavia, Collegio Borromeo, 8 - 10 marzo 1995
London, John Libbey, 1997, pp. 154
ISBN 0 86196 541 8
This compilation arises from contributions made to the seventh postgraduate course in paediatric neurology held in Pavia, Italy under the auspices of the Mariani Foundation in cooperation with the National Neurologic Institute of Milan.
The course concentrated on threee main areas : the impact of molecular biology and molecular genetics on aetiology, advances in our unerstanding pathogenesis, and finally therapy.
The choice of the subject was suggested by the remakable progress has been made in this field during the last decade, mostly due to the recent advances in genetics which now enable a new nosographic approach as well as different diagnostic strategies. Part of this work is dedicated to the rehabilitation of patients affected by neuromuscular diseases.
Mariani Foundation Paediatric Neurology Series - IV
Editors: S. Di Donato, R. Parini, G. Uziel
Atti del IV Corso di Aggiornamento in neurologia infantile, Milano, Università degli Studi, 1 - 3 marzo 1994
London, John Libbey, 1995, pp. 209
ISBN 0 86196 488 8
This book is dedicated to an update on metabolic disorders and their consequences on the developing nervous system. In the last ten years, major scientific advances in biochemical diagnosis have enabled the identification of many new disease entities, as well as a better classification of clinical symptoms and their correlation to biochemical defects.
This volume provides an introduction to basic sciences specifically relevant to this disease group, then focuses on each subgroup in turn: hyperphenylalaninaemias, mitochondrial encephalomyopathies, organic acidoses, urea cycle defects, lysosomal storage and peroxylsomal disorders. Finally, a discussion of long term follow-up and family related issues also reports the results of a four-year research project led by the Mariani Foundation.
Mariani Foundation Paediatric Neurology Series - III
Editors: A. Beaumanoir, M. Bureau, T. Deonna, L. Mira, C. A. Tassinari
Atti del II Colloquio in Epilettologia Infantile, Venezia, San Servolo, 15 - 16 ottobre 1993
London, John Libbey, 1995, pp. 260
ISBN 0 86196 385 7
This book assembles the results of clinical experience and research, as well as the views of specialists who have studied in depth several rare and complex syndromes associated with continuous spikes and waves during slow sleep, the Landau-Kleffner syndrome, and related conditions, and a wide-ranging collection of cases analysing various clinical, electro-physiological and psychointellectual aspects.
The book provides a thorough update on specialized knowledge about the syndromes characterized by the presence of CSWS on the EEG, to resolve many questions, and to stimulate further interdisciplinary research to verify the validity of present hypotheses, in order to clarify which preventive and therapeutic methods can best attain the control of such syndromes.
Mariani Foundation Paediatric Neurology Series - II
Editors: E. Fedrizzi, G. Avanzini, P. Crenna
Atti del IV Corso di Aggiornamento in neurologia infantile, Milano, Università degli Studi, 10 - 12 marzo 1993
London, John Libbey, 1994, pp.185
ISBN 0 86196 448 9
The advances of basic sciences combined with the perspectives of developmental neurology have recently modified the traditional outlook on the evolution of motor behaviour. The maturation of neuro-anatomic structures is studied nowadays as just one facet of a complex process: the various elements of innate global patterns, the acquisition of antigravitary schemes as well as manipulative and praxic skills, control of posture and gait, ocular motility and motricity, converge to create the
present picture of a continuous adaptive interaction between the child’s genotype and its environment.
This book stimulates the debate and the exchange of concepts between researchers and clinical specialists.
- Some development aspects of telencephalic structures involved in motor control
- Motor assessment in the neonatal period
- Development of reaching and grasping
- Fine manipulative abilities in the first years of life
- Maturation of feedback control of posture and equilibrium
- Neural basis for development of human locomotion
- Current neurobiological models of vision in infants
- Ocular movements
- Oculomotion and visual perception in early infancy: a neuropsychological perspective
- Clinical assessment of ocular motion
Mariani Foundation Paediatric Neurology Series - I
Editors: F. Andermann, A. Beaumanoir, L. Mira, J. Roger, C. A. Tassinari
Atti del I Colloquio in Epilettologia Infantile, Milano, Ospedale dei Bambini "V. Buzzi", 26 - 27 marzo 1992
London, John Libbey, 1993, pp.246
ISBN 0 86196 385 7
The first volume of the new Mariani Foundation Paediatric Neurology series is devoted to a particular facet of infantile epilepsy, Occipital Seizures and Epilepsies. That an epileptogenic process common to all ages manifests itself differently according to the stages of cerebral evolution suggests that a deeper investigation of these age-dependent epilepsies and their related conditions is necessary.
Findings of basic sciences in epileptogenicity are compared with clinical data and developed towards practical applications of general interest, such as the fundamental differential diagnosis between occipital seizures and migrainous attacks. Since the normal maturation of the brain in the post-natal period largely depends on early sensory-motor experience, particularly visual functions, it is essential to consider research maturation of visual systems, as it may offer stimulating insights into the peculiarities of these ‘epileptic syndromes’ which represent a model for the study of the child’s epilepsy. Though dealing with a particular problem in paediatric neurology, they point to a general process in human biology.