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Mariani Foundation Paediatric Neurology Series
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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JLE 30 front cover

Mariani Foundation Paediatric Neurology Series – XXX

PROGRESSIVE MYOCLONUS EPILEPSIES - STATE OF THE ART

Editors: Berge A. Minassian, Pasquale Striano and Giuliano Avanzini
London-Paris, John Libbey Eurotext Ltd, 2017, pp. 206

Progressive myoclonus epilepsy strikes healthy children and has a slow yet devastating impact upon their lives. Almost all forms are caused by single gene defects, the majority of which were identified during the genomic era. Accurate clinical diagnosis is now straightforward and research into pathogenesis builds upon our understanding of causation. Future research is likely to lead to new therapeutic approaches while providing us with a better understanding of how the brain, the very essence of our being, operates, gene by gene. As we stand on the cusp of the post-genomic era, the emergence of unprecedented new tools, such as CRISPR and adeno-associated viruses, offers hope that these monogenetic diseases may one day be eliminated altogether. This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era.

Contents

Foreword by Antonio V. Delgado-Escueta

Preface by the Editors

1) The history of progressive myoclonus epilepsies - Pierre Genton, Pasquale Striano and Berge A. Minassian
2) Neurophysiology of myoclonus and progressive myoclonus epilepsies - Giuliano Avanzini et al.
3) Unverricht-Lundborg disease - Arielle Crespel et al.
4) Lafora disease - Julie Turnbull et al.
5) SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome - Leanne M. Dibbens et al.
6) Neuronal ceroid lipofuscinoses - Dragos A. Nita, Sara E. Mole and Berge A. Minassian
7) Sialidoses - Silvana Franceschetti and Laura Canafoglia
8) Myoclonic epilepsy in mitochondrial disorders - Costanza Lamperti and Massimo Zeviani
9) Progressive myoclonic epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis) - Benoit D. Roussel et al.
10) GOSR2: a progressive myoclonus epilepsy gene - Leanne M. Dibbens and Guido Rubboli
11) KCTD7-related progressive myoclonic epilepsy - Patrick Van Bogaert
12) Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis - Edoardo Ferlazzo et al.
13) Spinal muscular atrophy associated with progressive myoclonic epilepsy - Haluk Topaloglu and Judith Melki
14) Myoclonus epilepsy and ataxia due to potassium channel mutation
15) Assistive technology for rehabilitation and school inclusion of low-vision children and adolescents - Massimo Guerreschi, Giuseppina Giammari, Elisa Pozzoni and Renato Borgatti (MEAK) is caused by heterozygous KCNC1 mutations - Fabio A. Nascimento and Danielle M. Andrade

16) Myoclonus and seizures in PMEs: pharmacology and therapeutic trials - Roberto Michelucci et al.

17)  Post-modern therapeutic approaches for progressive myoclonus epilepsy - Berge A. Minassian

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vol JLXXIX

Mariani Foundation Paediatric Neurology Series – XXIX

VISUAL IMPAIRMENTS AND NEURODEVELOPMENTAL DISORDERS
From diagnosis to rehabilitation

Editors: Elisa Fazzi and Paolo Emilio Bianchi
London-Paris, John Libbey Eurotext Ltd, 2016, pp. 215

The rising number of cases in visual disorders during development, over the last decade, has strongly influenced approaches to diagnosis and rehabilitation. Moreover, the study of visual function has evolved not only within an ophthalmological, but also a neurodevelopmental framework: advances in our understanding of the maturation and plasticity of visual system functioning have further guided the progress of such approaches. As a result, the key importance of the developmental age is now widely acknowledged, from as early as the first months of life. This book provides an overview of the diagnosis and treatment of visual disorders in relation to advances in neurodevelopmental studies. The concept of early and multimodal management is discussed, with a focus on neuro-psycho-ophthalmological issues. The need for training courses aimed at semiological aspects and methodological and rehabilitative strategies is established, as being of significant value to clinical practice.

Contents

General overview
1) Visual function and neurodevelopment in children: from neuroscience to rehabilitation - Elisa Fazzi and Anna Molinaro
2) Visual development in childhood - Paolo Emilio Bianchi, Gabriella Ricciardelli, Alessandro Bianchi, Antonella Arbasini and Elisa Fazzi
3) Functional assessment of cerebral visual impairment in infants and children with neurodevelopmental disorders - Janette Atkinson and Oliver Braddick
4) Adult human cortical plasticity after transient visual deprivation: implications for occlusion therapy in amblyopia - Claudia Lunghi, David C. Burr, Roberto Caputo and Maria Concetta Morrone
5) The role of the motor system: from action coding to cognition - Giovanni Buccino
Cerebral Visual Impairment: from diagnosis to rehabilitation
6) Concept and overview of cerebral visual impairment: a clinical perspective - Geertrui Peirens and Els Ortibus
7) Oculomotor disturbances in children with neurological diseases - Silvia Mariani and Emilio C. Campos
8) Visual-perceptual and visual-cognitive disorders in cerebral palsy - Jessica Galli, Serena Micheletti and Elisa Fazzi
9) Developmental and acquired higher visual processing disorders in children - Daria Riva and Sara Bulgheroni
10) Neuroimaging of cerebral visual impairment in children - Carla Uggetti
11) The role of electrophysiology in the diagnosis of visually impaired children - Giulio Ruberto, Martina Suzani, Chiara Bertone, Rosanna Guagliano, Mauro Antonini, Sabrina Giovanna Signorini, Elisa Fazzi, Umberto Balottin and Paolo Emilio Bianchi
12) Visual profile in healthy full-term newborns: use of the Neonatal Assessment Visual European Grid (NAVEG) - Andrea Rossi, Michela Gritti, Paola Mattei, Francesco Semeraro, Gaetano Chirico, NAVEG study group and Elisa Fazzi
Rehabilitation of visual impairments
13) Visual field defects and brain plasticity in children with cerebral lesions - Francesca Tinelli and Giovanni Cioni
14) A multidisciplinary and multidimensional approach to visual function in childhood: from neurovisual disorders to strategies of intervention for promoting neuropsychomotor development - Sabrina Giovanna Signorini, Antonella Luparia, Eleonora Perotto, Marina Zoppello, Francesco Decortes, Mauro Antonini, Chiara Bertone, Walter Misefari, Giulio Ruberto, Paolo Emilio Bianchi and Umberto Balottin
15) Assistive technology for rehabilitation and school inclusion of low-vision children and adolescents - Massimo Guerreschi, Giuseppina Giammari, Elisa Pozzoni and Renato Borgatti
Visual disorders and neurological diseases
16) Disorders of the anterior segment in the syndromic child - Adriano Magli, Luca Rombetto, Paolo Esposito Veneruso and Elisabetta Chiariello Vecchio
17) Albinism - Roberto Caputo
18) Acquired nystagmus - Roberto Salati
19) Perceptual visual disturbances and epilepsy - Renzo Guerrini and Carmen Barba
20) Congenital disorders of the optic nerve - Paolo Emilio Bianchi, Chiara Bertone, Martina Suzani, Alessandro Bianchi and Gabriella Ricciardelli

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vol JLXXVIII

Mariani Foundation Paediatric Neurology Series – XXVIII
COGNITIVE AND BEHAVIOURAL NEUROLOGY IN DEVELOPMENTAL AGE

Editors: Daria Riva and Sara Bulgheroni
London-Paris, John Libbey Eurotext Ltd, 2015, pp. 176

Cognitive and behavioural neurology is increasingly the focus of attention from the neurosciences, both in adults and children. This field combines a number of specialties including neurophysiology, anatomy, developmental neurobiology, new neuroimaging techniques and genetics, to ensure that neurological conditions are approached from different perspectives. Appropriate cognitive/behavioural evaluation methods should based upon the known characteristics of neuropathology, molecular genetics and neurophysiology of the disorders. This book provides an update on neurocognitive and behavioural deficits observed in developmental neurology (epilepsy, brain malformations, tumours, autistic spectrum disorders, syndromic and non-syndromic intellectual disabilities, cerebral palsy and CNS progressive disorders). It aims to describe cognitive/behavioural phenotypes, define indications for treatment and rehabilitation, and enhance knowledge acquired from clinical studies. The contents are addressed to child neurologists, psychiatrists, psychologists, paediatricians, geneticists, behavioural and speech therapists.

Contents
1) The effect of brain lesions/disease on cognition: location/type and treatment - Daria Riva
Epilepsy and headache
2) Possible pathogenetic mechanisms of epileptic encephalopathies and implications for associated cognitive disorders - Silvana Franceschetti
3) Cognitive development in Dravet syndrome - Francesca Ragona, Mara Patrini and Tiziana Granata
4) The neuropsychological profile of childhood focal idiopathic epilepsy syndromes - Chiara Vago, Sara Bulgheroni, Silvia Esposito, Arianna Usilla and Daria Riva
5) Lesional epilepsies in childhood: neuropsychological and psychopathological aspects - Valentina Sibilia and Renzo Guerrini
6) Cognitive and behavioural aspects of headache in children and adolescents - Umberto Balottin, Matteo Chiappedi, Federica Galli, Sara Gianfelice and Cristiano Termine
Malformations and tumours
7) Spina bifida: brain and neurobehavioural outcomes - Jack M. Fletcher, Jennifer J. Juranek and Maureen Dennis
8) Neurocognitive, neuropsychological, and neurovisual development in single-suture craniosynostoses - Daniela Chieffo and Luca Massimi
9) Cognitive and behavioural outcome in children with posterior fossa malformations - Sara Bulgheroni, Fabiana Cazzaniga, Michela Bonalumi and Daria Riva
10) Brain tumours: how the location of the lesion and treatments affect cognitive function - Daria Riva, Silvia Esposito, Fabiana Cazzaniga and Sara Bulgheroni
11) Paediatric anaesthetic and cognitive neurotoxicity - Lena S. Sun
Neurodevelopmental disorders
12) Cognitive and behavioural phenotype in intellectual disability - Stefano Vicari, Paolo Alfieri and Deny Menghini
13) High-functioning autism spectrum disorders: focus on neuropsychological profiling - Antonio Narzisi, Filippo Muratori and Cosimo Urgesi
Cerebral palsy
14) Cognitive and language development in children with early focal brain lesions - Anna Maria Chilosi, Paola Brovedani, Sara Lenzi, Paola Cristofani and Paola Cipriani
15) Neuropsychological profiles in children with spastic diplegia with particular attention to visuo-cognitive abilities - Serena Micheletti, Jessica Galli and Elisa Fazzi
Progressive neurological diseases
16) Cognition and psychopathology in movement disorders in children - Nardo Nardocci and Mara Patrini
17) Lysosomal storage disorders - Rita Barone and Rossella Parini
18) Cognitive impairment in paediatric multiple sclerosis - Angelo Ghezzi

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Vol27 JLE Mariani Foundation Paediatric Neurology Series – XXVII
PAEDIATRIC NEUROLOGICAL DISORDERS WITH CEREBELLAR INVOLVEMENT
Diagnosis and management

Editors: Stefano D'Arrigo, Daria Riva and Enza Maria Valente
London-Paris, John Libbey Eurotext Ltd, 2014, pp. 242

This book provides an update on paediatric neurological disorders with cerebellar involvement. The opening section of the volume is dedicated to the structure and function of cerebellum: the specific development of this organ, unlike other structures of the central nervous system, begins at a later stage of foetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. Of particular interest are chapters that focus on cerebellar disorders which may occur in isolation, or else as part of more complex malformations of the posterior fossa or in association with other supratentorial anomalies. Such conditions may be encountered both as part of "static" congenital encephalopathies as well as in the frame of neurodegenerative or neurometabolic disorders. Besides, the recent advances in neuroimaging and genetics allow to better characterize and define the genetic basis of an increasing number of such conditions. The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases: their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide adequate counselling.

Contents
The cerebellum: structure and function
1) Cerebellum – small brain but large confusion: reappraisal 10 years later - Eugen Boltshauser and Andrea Poretti
2) The role of the cerebellum in higher cognitive and social functions in congenital and acquired diseases of developmental age - Daria Riva and Sara Bulgheroni
3) The cerebellum: semiotics and clinical approach to the patient - Stefano D’Arrigo, Erika Buzzi, Enrico Alfei and Chiara Pantaleoni
Cerebellar congenital malformations: neuroimaging and neuropathology
4) MRI of cerebellar malformations - Filippo Arrigoni, Romina Romaniello and Fabio Triulzi
5) Foetal MRI - Lucia Manganaro and Silvia Bernardo
6) Cerebellar malformations in the prenatal period – The pathologist’s role - Evelina Silvestri, Francesca Servadei and Valentina Toto
Cerebellar congenital malformations: syndromes
7) Joubert syndrome - Francesca Mancini, Alessia Micalizzi, Marta Romani and Enza Maria Valente
8) Update on pontocerebellar hypoplasia: novel subtypes, genes and insights - Veerle R.C. Eggens, Peter G. Barth and Frank Baas
9) X-linked disorders with cerebellar involvement - Ginevra Zanni
10) The ever-expanding spectrum of congenital muscular dystrophies - Eugenio Mercuri and Francesco Muntoni
11) Cystic malformations of the posterior fossa - Andrea Poretti, Thierry AGM Huisman and Eugen Boltshauser
Acquired cerebellar disorders
12) Cerebellar strokes in childhood - Maja Steinlin
13) Cerebellar injury in preterm infants - Isotta Guidotti, Licia Lugli, Natascia Bertoncelli, Marina Palmieri, Maria Carolina Bariola, Alberto Berardi, Alessandra Todeschini, Francesca Cavalleri, Fabrizio Ferrari
14) Cerebellar tumours - Veronica Biassoni, Elisabetta Schiavello and Maura Massimino
Cerebellar degenerative disorders
15) Neuroradiological findings in paediatric cerebellar degenerative diseases - Luisa Chiapparini
16) Ataxia-telangiectasia and ataxias with oculomotor apraxia - Vincenzo Leuzzi and Daniela D’Agnano
17) Infantile neuroaxonal dystrophy: PLA2G6-associated neurodegeneration - Vanessa Cavallera, Giovanna Zorzi and Nardo Nardocci
18) Autosomal recessive spastic ataxia of Charlevoix-Saguenay - Caterina Mariotti and Marta Panzeri
Care and rehabilitation in cerebellar disorders
19) Ataxic disorder in childhood: an approach providing assistance and motor rehabilitation - Roberta Battini, Eleonora Bieber, Manuela Casarano and Giovanni Cioni
20) Diagnosis, management and rehabilitation strategies in patients with cerebellar disorders: visual function - Sabrina G. Signorini, Cristina Fedeli, Antonella Luparia, Eleonora Perotto, Francesco Decortes, Mauro Antonini, Chiara Bertone, Walter Misefari, Giulio Ruberto, Paolo Emilio Bianchi and Umberto Balottin
21) Patients with pathology – Rehabilitation of cognitive functions - Viola Brenna, Chiara Gagliardi, Romina Romaniello and Renato Borgatti22) Cognitive-behavioural phenotype of Joubert syndrome – Review of the literature and preliminary data from the Italian JSRD study group - Sara Bulgheroni, Stefano D’Arrigo, Enza Maria Valente and Daria Riva

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coverJL26web Mariani Foundation Paediatric Neurology Series – XXVI

NEUROBIOLOGY, DIAGNOSIS AND TREATMENT IN AUTISM
An update

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.

Contents
1) Neurobiology, diagnosis, and treatment in autism: an introduction - Daria Riva
Neurobiology
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
Psychopharmacology
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
Rehabilitation
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

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Vol25 JLE 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.

Contents

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 

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Vol 24 front cover 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.

Contents
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

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Vol 23 Lysosomal

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.

Contents
General aspects
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

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vol 22 front cover Mariani Foundation Paediatric Neurology Series – XXII

BRAIN LESION LOCALIZATION AND DEVELOPMENTAL FUNCTIONS
Basal ganglia - Connecting systems - Cerebellum - Mirror neurons

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.

Contents
1) Cognitive development after early brain lesions: implications for reorganization of function and distributed networks - Harvey S. Levin and Elisabeth A. Wilde
Basal ganglia
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
Connecting systems
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
Cerebellum
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
Mirror neurons
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

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Vol 21 Neurology 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.

Contents
Preface
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

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  Vol 20 Genetics 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, pp. 271

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.

Contents

Foreword
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

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