New Advances in Pediatric Neurologic and Developmental Disorders in the Era of Genomics, An Issue of Pediatric Clinics of North America
1. Auflage
Erschienen am 25. Juni 2015
100 Seiten
978-0-323-38903-7 (ISBN)
Beschreibung
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.
Weitere Details
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Inhalt
- Front Cover
- New Advances inPediatric Neurologic andDevelopmental Disordersin the Era of Genomics
- Copyright
- Contributors
- Contents
- Forthcoming Issues
- Transformative Technologies and Understanding
- Pediatric Neurology in the Era of Genomics
- References
- 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
- Overview
- Microcephaly
- Primary microcephaly
- Postmigrational microcephaly
- Overgrowth-Related Disorders
- Megalencephaly and hemimegalencephaly
- Focal cortical dysplasia
- Abnormal Neuronal Migration
- Heterotopia
- Lissencephaly and subcortical band heterotopia
- Cobblestone malformations
- Polymicrogyria
- Polymicrogyria without clefts
- Schizencephaly
- Diagnostic strategy
- Brain Imaging
- Tissue Consideration
- Genetic testing
- Single Nucleotide Variants
- Copy Number Variants
- Current management of the disease
- Investigations
- Management
- Future treatment approaches
- References
- Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
- Key points
- Introduction
- Prader-Willi syndrome
- Clinical Background of the Disease
- Hypotonia
- Hypogonadism
- Growth deficits
- Hyperphagia and obesity
- Developmental delay/intellectual disability
- Behavioral difficulties
- Other features
- Recent Advances in Genetics and Pathomechanism of the Disease
- Diagnostic Strategy
- Methylation analysis
- Search for a deletion
- Uniparental disomy testing
- Imprinting defect
- Additional options
- Current Management
- Diet and nutrition
- Hormonal/endocrine
- Behavioral and educational
- Other
- Future potential therapies
- Recommendation for family counseling
- Angelman syndrome
- Clinical Background of the Disease
- Developmental delay/intellectual disability
- Speech
- Epilepsy
- Movement disorder
- Happy demeanor
- Other features
- Recent Advances in Genetics and Pathomechanism of the Disease
- Diagnosis
- Methyation analysis
- Deletion testing
- UPD testing
- Imprinting center sequencing
- UBE3A sequencing
- Management of Angelman Syndrome
- Epilepsy
- Sleep disturbance
- Diet and nutrition
- Muscle tone and gait
- Speech
- Other
- Future potential therapies
- Recommendation for family counseling
- Dup15q syndrome
- Clinical Background of the Disease
- Hypotonia
- Developmental delay/intellectual disability
- Epilepsy
- Autism
- Other
- Recent Advances in Genetics and Pathomechanism of the Disease
- Diagnosis
- Treatment/Management
- Muscle tone/growth and nutrition
- Autism
- Epilepsy
- Behavior and sleep
- Future potential therapies
- Recommendation for family counseling
- Summary
- References
- 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
- References
- 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
- Lesch-Nyhan Disease
- Smith-Magenis Syndrome
- Cri du Chat Syndrome
- Borderline Personality Disorder
- Major Depressive Disorder
- Conceptualization of self-injurious behaviors
- Neurotransmitters implicated in self-injurious behaviors
- Dopamine
- Serotonin
- Nucleoside Signaling
- Endogenous Opioids
- Interactions Between Signaling Pathways
- Discussion
- Caveat 1
- Caveat 2
- Caveat 3
- References
- Tuberous Sclerosis Complex
- Key points
- Introduction
- Epidemiology
- Cause
- Pathophysiology
- Diagnostic Approach
- Practical Management, Follow-up, and Surveillance
- Novel Treatment Approaches
- Summary
- References
- Emerging Treatments for Pediatric Leukodystrophies
- Key points
- The leukodystrophies: clinical background
- Diagnostic strategy
- Existing and emerging therapies
- Summary
- References
- 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 Encephalitis
- N-methyl d-aspartate receptor antibody mediates neurologic relapse following herpes simplex encephalitis
- Limbic Encephalitis
- Voltage-gated potassium channel-complex antibody-mediated encephalopathy
- Other antibody-mediated limbic encephalitides
- Progressive Encephalomyelitis with Rigidity and Myoclonus
- Other encephalitis/encephalopathy associated with neuronal cell surface antibodies
- Dipeptidyl-peptidase-like protein-6
- ?-Aminobutyric acid A receptor
- Dopamine Receptor 2 in Basal Ganglia Encephalitis
- Antibodies Associated with Encephalopathy and White Matter Syndromes
- Aquaporin-4 and myelin oligodendrocyte glycoprotein antibodies in childhood demyelination syndromes
- N-methyl d-aspartate receptor antibody associated with distinct white matter syndromes
- When to suspect an autoimmune cause?
- Cases whereby no antibody can be identified
- Treatment strategies in autoimmune encephalopathy
- Future directions
- Conflict of interest
- References
- Advances in Tourette Syndrome
- Key points
- Introduction
- Patient history
- Physical examination
- Diagnosis
- Imaging and additional testing
- Pharmacologic treatment options
- Nonpharmacologic treatment options
- Behavior Therapy
- Repetitive Transcranial Magnetic Stimulation
- Combination Therapies
- Surgical Treatment Options
- Treatment resistance or complications
- Evaluation of outcome and long-term recommendations
- Genetic counseling
- References
- Genetics of Pediatric Epilepsy
- Key points
- Introduction and general principles
- Nonsyndromic genetic epilepsies
- Epilepsies of Neonatal Onset
- Benign familial neonatal seizures
- Benign familial neonatal-infantile seizures
- Neonatal epileptic encephalopathies
- Epilepsies of Infantile Onset
- Benign familial infantile seizures
- Dravet syndrome
- West syndrome
- Generalized epilepsy with febrile seizures plus
- Epilepsy of infancy with migrating focal seizures
- Benign myoclonic epilepsy of infancy
- Familial infantile myoclonic epilepsy
- Epilepsies of Childhood Onset
- Early- and late-onset childhood occipital epilepsy
- Benign epilepsy with centrotemporal spikes
- Childhood absence epilepsy
- Landau-Kleffner syndrome
- Epilepsy with myoclonic atonic (astatic) seizures
- Lennox-Gastaut syndrome
- Epileptic encephalopathy with continuous spike-and-wave during sleep
- Epilepsies of Adolescent Onset
- Juvenile absence epilepsy
- Juvenile myoclonic epilepsy
- Autosomal-dominant nocturnal frontal lobe epilepsy
- Autosomal-dominant partial epilepsy with auditory features
- Epilepsies of Variable Age of Onset
- Familial focal epilepsy with variable foci
- Progressive myoclonic epilepsies
- Reflex epilepsies
- Syndromic genetic epilepsies
- Summary
- References
- Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy
- Key points
- Introduction
- Clinical features
- Duchenne Muscular Dystrophy
- Becker Muscular Dystrophy
- Serum chemistries
- Mutation analysis
- Muscle biopsy
- Management
- Medical Management
- Corticosteroids
- Cardiac
- Nonpharmacologic Management
- Pulmonary
- Spine/scoliosis
- Contractures
- Exercise
- Functional Outcomes
- Emerging therapies
- Gene Transfer
- Exon Skipping
- Nonsense Suppression
- Supplementary data
- References
- Spinal Muscular Atrophies
- Key points
- Introduction
- Epidemiology
- Clinical characteristics
- Type I Spinal Muscular Atrophy
- Type II Spinal Muscular Atrophy
- Type III Spinal Muscular Atrophy
- Outliers
- Other Spinal Muscular Atrophies
- Genetics
- The Survival of Motor Neuron Gene
- Genetic Diagnosis
- Other diagnostic tests
- Differential diagnosis
- Treatment
- Clinical Trials in Spinal Muscular Atrophy-Therapeutics
- Agents that Up-regulate Survival of Motor Neuron 2 Gene Expression and Promote Exon 7 Inclusion
- Small molecules
- Neuroprotective, Survival of Motor Neuron Protein Stabilization Agents
- Other small molecules
- Other Approaches
- Antisense oligonucleotides
- Stem cells
- Gene therapy
- Care of patients with spinal muscular atrophy
- Pulmonary
- Gastrointestinal
- Nutrition
- Orthopedic
- Fatigue
- Summary
- References
- Pediatric Charcot-Marie-Tooth Disease
- Key points
- Introduction
- Forms and genetics of Charcot-Marie-Tooth disease
- Pathomechanisms of neuropathy
- Clinical features
- Physical examination findings
- Weakness and Muscle Atrophy
- Sensation
- Stretch Reflex
- Gait Findings: Motion Analysis
- Electrophysiologic findings
- Diagnosis and testing strategy
- Management
- Physical Therapy
- Orthopedic Treatment
- Pain Management
- Charcot-Marie-Tooth Disease and Neurotoxic Drugs
- Summary and future directions
- References
- 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
- Empirical Data
- Ethical and Policy Considerations
- Where Are We Now?
- Krabbe disorder
- Empirical Data
- Ethical and Policy Considerations
- Where Are We Now?
- Fragile X syndrome
- Empirical Data
- Ethical and Policy Considerations
- Where Are We Now?
- Moving forward
- References
- Index
