Paediatric neurological disorders with cerebellar involvement diagnosis and management.
edited by Stefano D'Arrigo, Daria Riva, Enza Maria Valente
EDITORS: JOHN LIBBEY EUROTEXT LTD, LONDON-PARIS, 2014, pp 242.
Stefano D'Arrigo, Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta", Milan.
Daria Riva, Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta", Milan.
Enza Maria Valente, Neurogenetic Department, Mendel Institute, Rome; IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo; Department of Medicine and Surgery, University of Salerno, Salerno.
The publication of this interesting text has been proceeded by the 25th Update Course "paediatric neurological disorders with cerebellar involvement: diagnosis and management", hold in Rome (2013) at the IRCCS Casa Sollievo della Sofferenza Istituto CSS-Mendel of Rome, in collaboration with the IRCCS Fondazione Istituto Neurologico C. besta of Milan.
The book is written in English and it is divided into 22 chapters, each one containing a brief initial summary with the key concepts then exploded in the text, several citations and bibliographic references.
The book involves 68 different authors, included 61 Italians, representing national leader groups both in the clinical and research fields, such as:
* structure and function of the cerebellum,
* neuroimaging and neuropathology of cerebellar malfor mations,
* cerebellar congenital malformations,
* acquired cerebellar disorders,
* cerebellar degenerative disorders,
* care and rehabilitation in cerebellar disorders.
Description of contents
The opening section of the volume is dedicated to the structure and function of the cerebellum. The specific development of the cerebellum, differently from other structures of the Central Nervous System, begins at a later stage of fetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. The first chapter introduces a sort of reappraisal of the cerebellum, important for genetic counselling, pathogenesis clarifications, and in particular for the management and prognosis of disorders involving the cerebellum. Another section is focused on emerging areas of cerebellar disorders needing a consensus, such as terminology, suggesting that a detailed anatomical description of changes in the posterior fossa, by means of neuroimaging, is preferable to potentially improper terms.
The second chapter describes how the role attributed to the cerebellum in neurological function has been extended, in the last two decades, moving from the idea of a controller for highly complex motor actions, to the idea of its contribution not only to motor control but also to the higher cognitive, neuropsychological and social functions.
The third chapter introduces the semeiotic and clinical approach and presents a table with the classification of cerebellar disorders into three groups:
* malformations: can occur as a single entity or as part of a more complex malformation of the posterior fossa or in association with other supratentorial anomalies ;
* extrinsic insults: stroke, cerebellar or infratentorial tumors, very low birth weight prematurity, infections, immune diseases;
* neurometabolic and neurodegenerativa disorders.
These three groups of diseases are then described in detail in the third, fourth and fifth section of the text (from chapter 7 to chapter 18).
In the second section, the topic of neuroimaging and neuropathology of congenital malformations is extensively discussed. Recent advances in the field of neuroimages and genetics allow to characterize and better define the genetic basis of an increasing number of such conditions.
Magnetic Resonance Imaging represents the best tool for the diagnosis of cerebellar malformations in vivo (chapter 4). Moreover, in recent years, Foetal MRI is proposed as a new technique for the evaluation of foetal brain abnormalities (chapter 5). Foetal MRI can be performed after 19 weeks of gestational age and is not significantly influenced by foetal movements.
The multiplanar aspect of MRI provides the opportunity to investigate the morphology and biometry of cranial structures. The combination of RMI and autoptic data or postnatal follow-up, results in 98% sensitivity, 86% specificity, and 94% accuracy regarding the diagnosis of posterior fossa pathologies.
The last part of the volume is dedicated to the care and rehabilitation in cerebellar diseases: their correct diagnosis is pivotal in order to direct patients to the appropriate genetic testing, clinical management and therapeutic strategies, and to provide adequate counselling.
Chapter 19, edited by specialists of the IRCCS Stella Maris and the university of pisa, emphasizes the aspect of motor rehabilitation. After diagnosis, the assessment of specific adaptive functions, by discrimination of clinical signs and functional compensations, is enlightened as the main task for clinicians and therapists.
In order to allow the child to develop his/her adaptive functions, a specific rehabilitation program is needed, integrated with the global assessment of the patient (including motor, cognitive, behavioral, attentional, language and communication aspect). In order to obtain a functional definition of rehabilitation project aims, it is important to have a standardized assessment of motor and non-motor functions and a constant updating on the devices or other rehabilitation tools (especially the more recently developed technological devices). Moreover, knowledge of the natural pathology history and the family and school contexts, always need to be considered.
Chapter 20 deals with the visual function and the strategies of diagnosis, management and rehabilitation for neuro-ophthalmological disorders in cerebellar diseases. It was edited by Neurological institute Foundation c.Mondino of pavia Group.
Neuro-ophthalmological disorders are part of the clinical picture of cerebellar disease. This is, due to the important role played by the cerebellum in visual and visual-spatial processing; different cerebellar regions are implicated in ocular motor function and the associated involvement of the ocular structures in the cerebellar diseases. chapter 21 is focused on rehabilitation of cognitive functions in pediatric neurological diseases with cerebellar involvement; it was edited by IRCCS E.Medea, Bosisio parini, Lecco.
The cerebellum was recently been described as a general coprocessor which provides accurate timing of multiple series of inputs from the cerebral cortex and the sensory systems. on one hand, the fact that cerebellar impairment is cross-domain supports the proposal of providing extensive and multi-level training, including real-life functioning; on the other hand, knowledge of specific cognitive functions involved in cerebellar diseases supports an application of intensive training focused on specific damage areas.
The final chapter presents a review edited by the Italian Joubert Syndrome (JSRD) Study Group, which also includes the three editors of the book.
They present preliminary results of this prospective project whose aim was to characterize the clinical phenotype and neurobehavioral features of a large cohort of children, adolescents and young adults, with JSRD.
This book provides an update on pediatric neurological disorders with involvement of the cerebellum. On one hand, these diseases are considered rare in clinical practice, but, on the other hand, the growing knowledge of the widespread participation of the cerebellum in various functions, both motor and cognitive, makes the argument of cerebellar involvement a necessary issue to assess for doctors and therapists in their clinical practice.
The clarity of the concepts and the schematic organization of the chapters within each chapter is remarkable. Each topic is extensively reported and the most recent evidence are referenced by updated bibliography. Finally, the presentation of clinical cases by research groups expert in the specific issue (mainly in the section of care and rehabilitation) provides a benefit.
The specificity with which the topics are presented, together with the schematic organisation of the text, contribute to the indication of a broad use of the text at multiple levels. In each section, possible conflicts of interest are set out, for example compared to other publications where such material had been already partially presented.
Any awards and acknowledgments are also reported; in particular Neurogenetic Department of Mendel Institute (Rome) acknowledges financial support by ERc (European Research council), the italian Ministry of Health and the US national institutes of Health to work on Joubert Syndrome (chapter 7); authors acknowledge financial support by Muscolar Dystrophy campaign, italian Telethon, italian network on CMD, Great ormond Street children's charity e National Commissioning Group to work on the spectrum of congenital muscular dystrophies (chapter 10). In chapter 22, special thanks to all the participants in the italian Joubert syndrome Study Group is reported.
In the long section describing the cerebellar disorders, noteworthy chapter 13 (Department of Neonatal Medicine; Modena), it is underlined as the cerebellar injury is increasingly recognized as a complication of premature birth (especially in extremely preterm births: under 28 weeks of EG). The increase in survival has demonstrated a constellation of deficits in neurological development in the long term and many of these are potentially referable to cerebellar damage.
The assessment scales section in the chapter of care and rehabilitation is extremely interesting, reporting observational methods and assessment protocols, such as the video recording Protocol for the observation of ataxic disorders (Ferrari and Cioni 1998), or the multidisciplinary neuro-olftalmological assessment protocol of Group of Pavia.
Finally, it is important to emphasize the international contribution of some foreign authors, expression of a network of clinical collaboration and research between the Italian and international structures, such as: Department of Paediatric Neurology, University Children's Hospital (Zurich, Switzerland); Division of Paediatric Neurology, Development and Rehabilitation, university children's Hospital (Bern, Switzerland); Department of Genome Analysis and Division of Paediatric Neurology (Amsterdam, The Netherlands); Division of Paediatric Radiology (Baltimore, USA).
Recipients of the text
The main aim of the advanced course that proceeded to this Publication was the training of child psychiatrists, neurologists, pediatricians, geneticists, on the diagnosis and management of patients with pediatric neurological disorders with cerebellar involvement.
In the book diagnostic, neuroimaging and therapeutic management were analysed with also a focus on rehabilitation aspects and overall care from the motor, visual, cognitive, neuropsychological and social point of view. Because of that, the volume represents a milestone on the state of the art on neurological disorders in children, with cerebellar involvement. This book will be a useful tool to consult in a variety of conditions and situations, including clinical practice and professional education. This implicates an enhanced interest in this book for an even broader range of professionals.
In particular the usefulness for physiotherapist engaged in the pediatric field is appreciable, not only for specialist post-graduate training, but also for hospital and community clinic practice and, most importantly, for research.
The text is written in English; however, it represents an important and almost entirely Italian first contribution on the subject. It can be considered as a starting point for specialized pediatric physiotherapists and other professionals, for further study on clinical prognosis, functional evaluations, rehabilitative interventions, relationship with the ICF model.
Level of recommendation of text
This book represents a significant reference for clinical physical therapists working with children and for physiotherapists who are trained in or teach pediatric physiotherapy, as well as for other specialized health professionals. The book concludes with a list of 28 publications published by the Mariani Foundation Paediatric Neurology Series; (www.fondazione-mariani.org), dealing with updates on specific topics edited by European experts. This renowned Italian Foundation, active worldwide with projects of training and research, provides a constant observatory on the progress of pediatric neurology.
A copy of the book can be obtained by sending a request to the Fondazione Mariani in firstname.lastname@example.org.
Giulia Peri, Laurea in Fisioterapia, Master di I livello in Fisioterapia Pediatrica, Universita di Firenze; Membro del G.I.S. Fisioterapia Pediatrica dell'AIFI; dipendente presso Centro di Riabilitazione Terranuova SpA- Servizio territoriale di riabilitazione in eta evolutiva del Valdarno (USL 8), Toscana
Elena Mariotti, Laurea in Fisioterapia, Master di I livello in Fisioterapia Pediatrica, Universita di Firenze; dipendente preso centro di Riabilitazione Fondazione Maria Assunta in Cielo- servizio per l'eta evolutiva, Pistoia, Toscana
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|Author:||Peri, Giulia; Mariotti, Elena|
|Date:||Mar 1, 2016|
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