New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America

Gyula Acsadi

Description

Neurodevelopmental diseases affect three percent of children and the specific cause is difficult to determine in many cases. Genetic research uncovered many loss or gain of function mutations in genes that are associated with synaptic development and or remodeling. However, more an more data are accumulating regarding the importance in gene regulations in neurodevelopmental diseases. Thjis issue addresses many aspects of the genomics of neurodevelopmental diseases, including articles devoted to genomic variations of brain malformations; neuroimaging of brain development; update on autism evaluation and genetics; prader-willi and angelman syndromes; tuberous sclerosis complex; genetics of pediatric epilepsy; pediatric leukodystrophies; autoimmune encephalopathies; inherited neuropathies and motor neuron diseases; and muscular dystrophies and congenital myopathies.

Sujets

• Médecine
• Médecine de laboratoire
• Medical
• Pediatrics

Informations

• Publié par: Elsevier
• Date de parution: 25 juin 2015
• Nombre de lectures: 0
• EAN13: 9780323389037
• Langue: English
• Poids de l'ouvrage: 2 Mo

Extrait

Clinics Review Articles PEDIATRIC CLINICS OF NORTH AMERICA
New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics

Gyula Acsadi, MD, PhD
Connecticut Children's Medical Center and Departments of Pediatrics and Neurology, University of Connecticut School of Medicine, Farmington, CT, USA
ISSN  0031-3955 Volume 62 • Number 3 • June 2015
Elsevier
Table of Contents
Cover image
Title page
Copyright
CME Accreditation Page
Target Audience
Learning Objectives
Accreditation
Disclosure of Conflicts of Interest
Unapproved/Off-Label Use Disclosure
To Enroll
Method of Participation
CME Inquiries/Special Needs
Contributors
Consulting Editor
Editor
Authors
Forthcoming Issues
Forthcoming Issues
Recent Issues
Foreword: Transformative Technologies and Understanding
Preface: Pediatric Neurology in the Era of Genomics
Genomic Variants and Variations in Malformations of Cortical Development
Key points
Clinical background
Embryology of cerebral cortical development
Recent advances in genetics and pathomechanism of malformations of cortical development
Diagnostic strategy
Genetic testing
Current management of the disease
Future treatment approaches
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
Key points
Introduction
Prader-Willi syndrome
Angelman syndrome
Dup15q syndrome
Summary
Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics
Key points
Introduction
Diagnosis of autism spectrum disorder is not etiology-based
Clinical heterogeneity
Heritability of autism spectrum disorder
Advances in genetic testing
Guidelines for genetic testing in autism spectrum disorder
More than 25% of individuals with autism spectrum disorder have an identifiable genetic cause
Clinical relevance of genetic testing: moving toward targeted phenotyping and treatment
Common clinical features: symptom clusters
Intellectual disability and autism spectrum disorder in genetic syndromes
Treatment of autism spectrum disorder is not yet etiology-based
Targeted treatment example 1: tuberous sclerosis complex
Targeted treatment example 2: Dup15q syndrome
Summary
Comparative Analysis of Self-Injury in People with Psychopathology or Neurodevelopmental Disorders
Key points
Introduction
Epidemiology of self-injurious behaviors
Description of self-injurious behaviors in specific disorders
Conceptualization of self-injurious behaviors
Neurotransmitters implicated in self-injurious behaviors
Discussion
Tuberous Sclerosis Complex
Key points
Introduction
Epidemiology
Cause
Pathophysiology
Summary
Emerging Treatments for Pediatric Leukodystrophies
Key points
The leukodystrophies: clinical background
Diagnostic strategy
Existing and emerging therapies
Summary
Autoimmune Encephalopathies
Key points
Introduction
Clinical and paraclinical features of autoimmune encephalopathies
Antibody detection methods
Specific antibody-mediated syndromes
N-methyl d-aspartate receptor antibody mediates neurologic relapse following herpes simplex encephalitis
When to suspect an autoimmune cause?
Cases whereby no antibody can be identified
Treatment strategies in autoimmune encephalopathy
Future directions
Conflict of interest
Advances in Tourette Syndrome
Key points
Introduction
Patient history
Physical examination
Diagnosis
Imaging and additional testing
Pharmacologic treatment options
Nonpharmacologic treatment options
Treatment resistance or complications
Evaluation of outcome and long-term recommendations
Genetic counseling
Genetics of Pediatric Epilepsy
Key points
Introduction and general principles
Nonsyndromic genetic epilepsies
Syndromic genetic epilepsies
Summary
Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy
Key points
Introduction
Clinical features
Serum chemistries
Mutation analysis
Muscle biopsy
Management
Emerging therapies
Supplementary data
Spinal Muscular Atrophies
Key points
Introduction
Epidemiology
Clinical characteristics
Genetics
Other diagnostic tests
Differential diagnosis
Treatment
Care of patients with spinal muscular atrophy
Summary
Pediatric Charcot-Marie-Tooth Disease
Key points
Introduction
Forms and genetics of Charcot-Marie-Tooth disease
Pathomechanisms of neuropathy
Clinical features
Physical examination findings
Electrophysiologic findings
Diagnosis and testing strategy
Management
Summary and future directions
Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders
Key points
Introduction: a brief history of newborn screening
Duchenne muscular dystrophy
Krabbe disorder
Fragile X syndrome
Moving forward
Index
Copyright
ELSEVIER
1600 John F. Kennedy Boulevard • Suite 1800 • Philadelphia, Pennsylvania, 19103-2899
http://www.theclinics.com
THE PEDIATRIC CLINICS OF NORTH AMERICA Volume 62, Number 3
June 2015 ISSN 0031-3955, ISBN-13: 978-0-323-38902-0
Editor: Kerry Holland
Developmental Editor: Casey Jackson
© 2015 Elsevier Inc. All rights reserved.
This periodical and the individual contributions contained in it are protected under copyright by Elsevier, and the following terms and conditions apply to their use:
Photocopying
Single photocopies of single articles may be made for personal use as allowed by national copyright laws. Permission of the Publisher and payment of a fee is required for all other photocopying, including multiple or systematic copying, copying for advertising or promotional purposes, resale, and all forms of document delivery. Special rates are available for educational institutions that wish to make photocopies for non-profit educational classroom use. For information on how to seek permission visit www.elsevier.com/permissions or call: ([phone] (UK)/([phone] (USA).
Derivative Works
Subscribers may reproduce tables of contents or prepare lists of articles including abstracts for internal circulation within their institutions. Permission of the Publisher is required for resale or distribution outside the institution. Permission of the Publisher is required for all other derivative works, including compilations and translations (please consult www.elsevier.com/permissions ).
Electronic Storage or Usage
Permission of the Publisher is required to store or use electronically any material contained in this periodical, including any article or part of an article (please consult www.elsevier.com/permissions ). Except as outlined above, no part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without prior written permission of the Publisher.
Notice
No responsibility is assumed by the Publisher for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions or ideas contained in the material herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.
Although all advertising material is expected to conform to ethical (medical) standards, inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer.
The Pediatric Clinics of North America (ISSN 0031-3955) is published bimonthly by Elsevier Inc., 360 Park Avenue South, New York, NY 10010-1710. Months of issue are February, April, June, August, October, and December. Periodicals postage paid at New York, NY and additional mailing offices. Subscription prices are $200.00 per year (US individuals), $493.00 per year (US institutions), $270.00 per year (Canadian individuals), $657.00 per year (Canadian institutions), $325.00 per year (international individuals), $657.00 per year (international institutions), $100.00 per year (US students and residents), and $165.00 per year (international and Canadian residents and students). To receive students/resident rare, orders must be accompanied by name of affiliated institution, date of term, and the signature of program/residency coordinator on institution letterhead. Orders will be billed at individual rate until proof of status is received. Foreign air speed delivery is included in all Clinics subscription prices. All prices are subject to change without notice. POSTMASTER: Send address changes to The Pediatric Clinics of North America , Elsevier Health Sciences Division, Subscription Customer Service, 3251 Riverport Lane, Maryland Heights, MO 63043. Customer Service: 1-800-654-2452 (US and Canada). From outside of the US and Canada: 1-314-447-8871. Fax: [phone]. For print support, E-mail: [e-mail] . For online support, E-mail: [e-mail] .
Reprints. For copies of 100 or more, of articles in this publication, please contact the Commercial Reprints Department, Elsevier Inc., 360 Park Avenue South, New York, NY 10010-1710. Tel.: [phone]; Fax: [phone]; E-mail: [e-mail] .
The Pediatric Clinics of North America is also published in Spanish by McGraw-Hill Inter-americana Editores S.A., Mexico City, Mexico; in Portuguese by Riechmann and Affonso Editores, Rua Comandante Coelho 1085, CEP 21250, Rio de Janeiro, Brazil; and in Greek by Althayia SA, Athens, Greece.
The Pediatric Clinics of North America is covered in MEDLINE/PubMed (Index Medicus), Excerpta Medica, Current Contents, Current Contents/Clinical Medicine, Science Citation Index, ASCA, ISI/BIOMED , and BIOSIS .
Printed in the United States of America.
CME Accreditation Page


Program Objective
The goal of the