Language Regression in an Atypical SLC6A1 Mutation
We present a child with a SLC6A1 mutation with language delay and autistic spectrum disorder and remind the reader that the identification of specific mutations in these conditions increase the likelihood of identification of potential therapeutic targets. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Monica P. Islam, Gail E. Herman, Emily C. de los Reyes Source Type: research

Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?
The importance of so called variants of undetermined significance in the development of Infantile Epileptic Encephalopathy is discussed and an illustrative case is presented. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Momen Almomen, Jong M. Rho, Morris H. Scantlebury Source Type: research

Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype
A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Erin Conboy, Duygu Selcen, Michael Brodsky, Ralitza Gavrilova, Mai Lan Ho Source Type: research

A Novel Phenotype in a Previously Described Epilepsy —Aphasia Disorder
The clinical presentation of patients with epileptic encephalopathies can be heterogenous. When attempting to classify a patient ’s epilepsy syndrome, challenges can arise due to the phenotypic overlap of various epilepsies as well as the different presentations of mutations within the same gene. Genetic testing can be most helpful in evaluation of children with features spanning several epilepsy phenotypes. In this case, w e report on a boy with an epileptic encephalopathy found to have a previously unreported mutation in a recently described gene. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: Anthony L. Fine, Lily C. Wong-Kisiel, Elaine C. Wirrell Source Type: research

Editorial Comment Case #14 Basilar Artery Thrombosis in a Neonate
I think the occurrence of basilar artery thrombosis in a neonate must be a rare event. Perhaps not easily recognized and often, depending on the neurologic deficits produced, overlooked until much later in life. If the thrombosis is not recognized at the time, the opportunity to document the location and extent of the thrombosis is lost and the physician is left to speculate about what happened based on the resulting residual brain damage. I have seen this type of stroke occur, or perhaps it is more appropriate to say, I have recognized this type of stroke on only 3 or 4 occasions in my career. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 29, 2018 Category: Neurology Authors: John B. Bodensteiner Source Type: research

Introduction to Seminars in Neurology
This edition of Seminars in Pediatric Neurology focuses on one of the least understood areas in pediatric neurology, namely the period immediately after birth and before a stable independent physiology is attained. This period of fetal-neonatal transition involves orchestration of the most complex physiological processes encountered at any time across the lifespan. Successful transition is completion of this process without collateral injury to the newborn, especially the newborn brain. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 14, 2018 Category: Neurology Authors: Adr é du Plessis Source Type: research

The Current Global Reality: Poverty and Income Inequality
We live in a world of economic inequality: among the world ′s nations, some are rich and others poor. Within nations, wealth is not distributed equally either: billionaires live alongside people who are scraping to get by. Explaining what makes some nations rich and others poor has captivated economists since the discipline was in its infancy. In “The W ealth of Nations”, Adam Smith′s classic work of 1776 and one of the foundational works of modern economics, was, in part, an attempt at answering the question of differing wealth between economies. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Samuel Freeman Source Type: research

Global Burden of Paediatric Neurological Disorders
Neurological conditions in children represent a significant proportion of the global burden of disease, since they contribute to premature mortality and years lived with disability. The burden of neurological conditions, as measured by the total Disability Adjusted Live Years (DALYs) has decreased significantly over the last 25 years (1990 –2015), mainly due to the reduction in the mortality, as the Years Lived with Disability (YLD) has increased slightly. However in some regions of the world, notably South Asia and sub-Saharan Africa, the burden remains high, driven by the high incidence of prematurity, neonatal enc...
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Charles Richard Newton Source Type: research

Imaging Evidence of the Effect of Socio-Economic Status on Brain Structure and Development
Numerous studies have shown an association between children ′s socio-economic status (SES) and disparities in neurocognitive development, achievements and function later in life. Research focus has recently shifted to imaging of the brain′s response to the child′s environment. This review summarizes the emerging studies on the influences of early-life SES on brain structure and development, and addresses the relation between brain development and enriched environments. The studies provide evidence of significant associations between SES and brain structure, growth and maturation, not only in healthy infan...
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: L.M. Leijser, A. Siddiqi, S.P. Miller Source Type: research

A Developmental Social Neuroscience Model for Understanding Pathways to Substance Use Disorders during Adolescence
Adolescence is a transitional period of development characterised by critical changes in physical, neural, cognitive, affective and social functions. Studies investigating the underlying mechanisms of substance use at levels of self-report, brain response and behavioural data are generally consistent with suggestions from dual-process model that differential growth rates of frontally mediated control and striato-frontal reward processing are related to a heightened risk of substance use during adolescence. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Hanie Edalati, Christine Doucet, Patricia J. Conrod Source Type: research

Understanding Fetal Heart Rate Patterns That May Predict Antenatal and Intrapartum Neural Injury
Electronic fetal heart rate (FHR) monitoring is widely used to assess fetal wellbeing throughout pregnancy and labor. Both antenatal and intrapartum FHR monitoring are associated with a high negative predictive value and a very poor positive predictive value. This in part reflects the physiological resilience of the healthy fetus and the remarkable effectiveness of fetal adaptations to even severe challenges. In this way, the majority of ‘abnormal′ FHR patterns in fact reflect a fetus′ appropriate adaptive responses to adverse in utero conditions. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Christopher A. Lear, Jenny A. Westgate, Austin Ugwumadu, Jan G. Nijhuis, Peter R. Stone, Antoniya Georgieva, Tomoaki Ikeda, Guido Wassink, Laura Bennet, Alistair J. Gunn Tags: 4th issue-Fetal Neurology issue Source Type: research

Fetal Cerebrovascular Maturation: Effects of Hypoxia
The human cerebral vasculature originates in the fourth week of gestation and continues to expand and diversify well into the first few years of postnatal life. A key feature of this growth is smooth muscle differentiation, whereby smooth muscle cells within cerebral arteries transform from migratory to proliferative to synthetic and finally to contractile phenotypes. These phenotypic transformations can be reversed by pathophysiological perturbations such as hypoxia, which causes loss of contractile capacity in immature cerebral arteries. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: William J. Pearce Source Type: research

The critical role of the central autonomic nervous system in fetal-neonatal transition
The objective of this article is to understand the complex role of the central autonomic nervous system in normal and complicated fetal-neonatal transition and how autonomic nervous system dysfunction can lead to brain injury. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Sarah B. Mulkey, Adre d ú Plessis Source Type: research

Circulatory Changes and Cerebral Blood Flow and Oxygenation During Transition in Newborns with Congenital Heart Disease
This review aims to describe how the complex events of cardiovascular transition may affect the brain of infants with congenital heart disease (CHD). In particular, we describe the vulnerabilities of the neonatal brain in the transitional period during and immediately after delivery and propose management strategies that can potentially influence neurodevelopmental outcomes in this patient population. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Shabnam Peyvandi, Mary T. Donofrio Source Type: research

It ′s all about the brain - Neuromonitoring during newborn transition
“. the matter of being born is such a physiologic adventure and the hazards to the brain so obvious that one would expect to find evidence of cortical electrical abnormality in those newcomers who have not survived too well the physical and chemical stresses incident to labour and delivery” Hugh es et al. 1948 Am J Dis Child. 76(5):503–12) (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: E.M. Dempsey, E. Kooi, G.B. Boylan Source Type: research

Brain injury during transition in the newborn with CHD: Hazards of the preoperative period
Congenital heart defects (CHD) are the most common birth defect, affecting approximately 30,000 newborns each year. Nearly one third of these children require cardiac surgery during the neonatal period.1 While surgical advancements over the last several decades have improved survival, neurodevelopmental disabilities remain a significant morbidity among survivors. As a result, clinical and investigative focus has shifted from survival beyond the neonatal period toward neurologic sequelae. Magnetic resonance imaging (MRI) studies during the neonatal period in this population reveal abnormal development including microcephaly...
Source: Seminars in Pediatric Neurology - May 11, 2018 Category: Neurology Authors: Jennifer M. Lynch, J. William Gaynor, Daniel J. Licht Tags: 4th issue-Fetal Neurology issue Source Type: research

Socioeconomic Status and Pediatric Neurologic Disorders: Current Evidence
This article focuses on the relationship between SES and pediatric epilepsy, cerebral palsy, autism spectrum disorder, and intellectual disability. Disparities in the prevalence and long-term impact of SES on functioning in persons with disabilities are observed worldwide. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Maureen S. Durkin, Marshalyn Yeargin-Allsopp Source Type: research

Socioeconomic Status and Pediatric Neurologic Disorders: Current Evidence ☆☆
This article focuses on the relationship between SES and pediatric epilepsy, cerebral palsy, au tism spectrum disorder, and intellectual disability. Disparities in the prevalence and long-term impact of SES on functioning in persons with disabilities are observed worldwide. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Maureen S. Durkin, Marshalyn Yeargin-Allsopp Source Type: research

Justice and Neurodevelopmental Disability: Moral-Political Philosophies, Policies, and Their Outcomes
Neurodevelopmental disabilities such as cerebral palsy and autism touch a population which has been dubbed to be “doubly vulnerable”. Individuals with neurodevelopmental disability have conditions that impair their cognition, communication, mobility or social interactions and they also rely on others to make decisions on their behalf. Accordingly, these children – as described in other contributions of t his special issue – are particularly prone to suffer from systemic (i.e., social, economic, and political) conditions that give or prevent access to quality and timely healthcare and social services...
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Eric Racine, Roxanne Caron, Mich èle Stanton-Jean Source Type: research

Promoting the human rights of children with neurologic conditions
Children with neurologic conditions are children first, and as such they benefit from international conventions, and national treaties, policies and regulations that have been developed to support their optimal development and ultimately safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities that allow these children to thrive and to achieve the best of their intrinsic capacities. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Keiko Shikako-Thomas, Meaghan Shevell Source Type: research

Socioeconomic Status and Pediatric Neurologic Disorders: Current Evidence ☆☆
This article focuses on the relationship between SES and pediatric epilepsy, cerebral palsy, au tism spectrum disorder, and intellectual disability. Disparities in the prevalence and long-term impact of SES on functioning in persons with disabilities are observed worldwide. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Maureen S. Durkin, Marshalyn Yeargin-Allsopp Source Type: research

Justice and Neurodevelopmental Disability: Moral-Political Philosophies, Policies, and Their Outcomes
Neurodevelopmental disabilities such as cerebral palsy and autism touch a population which has been dubbed to be “doubly vulnerable”. Individuals with neurodevelopmental disability have conditions that impair their cognition, communication, mobility or social interactions and they also rely on others to make decisions on their behalf. Accordingly, these children – as described in other contributions of t his special issue – are particularly prone to suffer from systemic (i.e., social, economic, and political) conditions that give or prevent access to quality and timely healthcare and social services...
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Eric Racine, Roxanne Caron, Mich èle Stanton-Jean Source Type: research

Promoting the human rights of children with neurologic conditions
Children with neurologic conditions are children first, and as such they benefit from international conventions, and national treaties, policies and regulations that have been developed to support their optimal development and ultimately safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities that allow these children to thrive and to achieve the best of their intrinsic capacities. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 26, 2018 Category: Neurology Authors: Keiko Shikako-Thomas, Meaghan Shevell Source Type: research

Movement Disorders and Neurometabolic Diseases
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 15, 2018 Category: Neurology Authors: Celanie K. Christensen, Laurence Walsh Source Type: research

Movement Disorders and Neurometabolic Diseases
Many inherited metabolic disorders cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad categories commonly responsible for pediatric movement disorders include mitochondrial disorders, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism disorders, lipid storage disorders, and disorders of creatine metabolism. Each movement disorder can be caused by many different inherited metabolic disorders and several of the inherited metabolic disorders can cause multiple movement abnormalities. (Source: Seminar...
Source: Seminars in Pediatric Neurology - February 15, 2018 Category: Neurology Authors: Celanie K. Christensen, Laurence Walsh Source Type: research

Introduction
Movement disorders are a heterogeneous group of conditions that affect a large percentage of the pediatric population. Some movement disorders, like stereotypies and tics, are extremely common, whereas others are vanishingly rare with only a few cases reported in the literature. Movement disorders can arise secondary to other conditions such as stroke or autoimmune diseases or be the primary presenting symptom as in the case of tic disorders; they may be acquired or genetic in origin.1,2 Pediatric movement disorders can cause significant functional and psychological impairment to both the child and caregivers. (Source: Sem...
Source: Seminars in Pediatric Neurology - February 13, 2018 Category: Neurology Authors: Karen S. Carvalho, Daphne M. Hasbani Source Type: research

Introduction
Movement disorders are a heterogeneous group of conditions that affect a large percentage of the pediatric population. Some movement disorders, like stereotypies and tics, are extremely common, while others are vanishingly rare with only a few cases reported in the literature. Movement disorders can arise secondary to other conditions such as stroke or autoimmune diseases or be the primary presenting symptom as in the case of tic disorders; they may be acquired or genetic in origin.1,2 Pediatric movement disorders can cause significant functional and psychological impairment to both the child and caregivers. (Source: Semin...
Source: Seminars in Pediatric Neurology - February 13, 2018 Category: Neurology Authors: Karen S. Carvalho, Daphne M. Hasbani Source Type: research

Pediatric Iatrogenic Movement Disorders
The acute development of a movement disorder is often a dramatic and frightening experience for patients and families, often requiring urgent or emergent evaluation by a neurologist. In the assessment of these patients, one relies on the history, physical and neurologic examination to determine the etiology of the condition. We aim to demonstrate that a thorough medication history is an incredibly critical part of this evaluation as iatrogenic movement disorders can arise from exposure not only to psychoactive medications, but from drugs prescribed for a variety of nonneurologic disorders. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 12, 2018 Category: Neurology Authors: Deepti Nagesh, Marcie Goeden, Keith A. Coffman Source Type: research

Pediatric Iatrogenic Movement Disorders
The acute development of a movement disorder is often a dramatic and frightening experience for patients and families, often requiring urgent or emergent evaluation by a neurologist. In the evaluation of these patients, one relies on the history, physical and neurologic examination to determine the etiology of the condition.We aim to demonstrate that a thorough medication history is an incredibly critical part of this evaluation as iatrogenic movement disorders can arise from exposure not only to psychoactive medications, but from medications prescribed for a variety of non-neurologic disorders. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 12, 2018 Category: Neurology Authors: Deepti Nagesh, Marcie Goeden, Keith A. Coffman Source Type: research

The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics
This article aims to provide a practical review of pediatric dystonia from a clinician ’s perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Inge A. Meijer, Toni S. Pearson Source Type: research

Tremors: Essential Tremor and Beyond
Tremor is a fairly common movement disorder presenting to an outpatient pediatric neurology practice. Tremors can be primary or secondary to underlying neurologic or systemic diseases. When assessing a child with tremor, it is paramount to evaluate the phenomenology of the tremor, determine the presence or absence of other neurologic signs and symptoms, and the possible modifying influence of medications. Proper classification is essential for specific diagnosis and prompt adequate management. Treatment considerations should take into account objective assessment of tremor severity and the degree of disability or impairmen...
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Chandrabhaga Miskin, Karen S. Carvalho Source Type: research

Management of Pediatric Movement Disorders: Present and Future
This article outlines the major categories of treatment options for pediatric movement disorders and general guidelines for their use. We review the evidence for existing therapies, which continue to lack large-scale controlled trials to guide treatment decisions. The field continues to rely on extrapolations from adult studies and lower quality evidence such as case reports and case series to guide treatment guidelines and consensus statements. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Jeffrey B. Russ, Akila M. Nallappan, Amy Robichaux-Viehoever Source Type: research

The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics
The aim of this review is to provide a practical review of pediatric dystonia from a clinician ′s perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Inge A. Meijer, Toni Pearson Tags: Invited review Source Type: research

Tremors: Essential Tremor and Beyond
Tremor is a fairly common movement disorder presenting to an outpatient pediatric neurology practice. Tremors can be primary or secondary to underlying neurological or systemic diseases. When assessing a child with tremor, it is paramount to assess the phenomenology of the tremor, determine the presence or absence of other neurologic signs and symptoms, and the possible modifying influence of medications. Proper classification is essential for specific diagnosis and prompt adequate management. Treatment considerations should take into account objective assessment of tremor severity and the degree of disability or impairmen...
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Chandrabhaga Miskin, Karen S. Carvalho Source Type: research

Management of Pediatric Movement Disorders: Present and Future
This article outlines the major categories of treatment options for pediatric movement disorders and general guidelines for their use. We review the evidence for existing treatments which continues to lack large-scale controlled trials to guide treatment decisions. The field continues to rely on extrapolations from adult studies and lower quality evidence such as case reports and case series to guide treatment guidelines and consensus statements. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - February 8, 2018 Category: Neurology Authors: Jeffrey B. Russ, Akila M. Nallappan, Amy Robichaux-Viehoever Source Type: research

Inherited and Acquired Choreas
Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with earl...
Source: Seminars in Pediatric Neurology - January 16, 2018 Category: Neurology Authors: Claudio M. de Gusmao, Jeff L. Waugh Source Type: research

Inherited and acquired choreas
Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and injury to diverse brain structures, injury to or derangement of the putamen and/or globus pallidus appear to be uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with early treatment....
Source: Seminars in Pediatric Neurology - January 16, 2018 Category: Neurology Authors: Claudio M. de Gusmao, Jeff L. Waugh Source Type: research

Pediatric Ataxia: Focus on Chronic Disorders
Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that primarily causes ataxia or that presents ataxia as one of a multitude of symptoms. Evaluation should focus on a quick diagnosis for those that have treatment options and for those that require other systemic monitoring. Friedreich ataxia is the most common, and genetic testing can easily confirm the suspicion. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - January 5, 2018 Category: Neurology Authors: David R. Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula Source Type: research

Pediatric Ataxia: Focus on Chronic Disordersca
Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that primarily causes ataxia or that causes ataxia as one of a multitude of symptoms. Evaluation should focus on a quick diagnosis for those that have treatment options and for those that require other systemic monitoring. Friedrich Ataxia is the most common, and genetic testing can easily confirm the suspicion. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - January 5, 2018 Category: Neurology Authors: David R Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula Source Type: research

Anatomy, Physiology, and Clinical Syndromes of the Basal Ganglia: A Brief Review
Movement disorders typically arise from dysfunction of the basal ganglia (BG), cerebellum, or both. The BG —a group of deep, subcortical structures—form complex circuits that shape motor control and motor learning, as well as limbic and associative functions. In this article, we summarize the anatomy and physiology of the BG and cerebellum, and briefly highlight the clinical syndromes that may arise in the context of their injury or dysfunction. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Arash Fazl, Jori Fleisher Source Type: research

Autoimmune Movement Disorders in Children
Over the last decade, there have been significant advances in the identification, characterization, and treatment of autoimmune neurologic disorders in children. Many of these diseases include a typical movement disorder that can be a powerful aid to diagnosis. Frequently, movement disorders in autoimmune conditions are the sole or among a few presenting symptoms, allowing for earlier diagnosis of an underlying malignancy or systemic autoimmune disease. Given that early detection and treatment with immunotherapy may confer improved outcomes, recognizing these patterns of abnormal movements is essential for child neurologis...
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Coral M. Stredny, Jeff L. Waugh Source Type: research

Paroxysmal Dyskinesias
Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Sara McGuire, Swati Chanchani, Divya S. Khurana Source Type: research

Anatomy, Physiology, and Clinical Syndromes of the Basal Ganglia: A Brief Review
Movement disorders typically arise from dysfunction of the basal ganglia, cerebellum, or both. The basal ganglia —a group of deep, subcortical structures—form complex circuits that shape motor control and motor learning, as well as limbic and associative functions. In this article, we summarize the anatomy and physiology of the basal ganglia and cerebellum, and briefly highlight the clinical syndromes that may arise in the context of their injury or dysfunction. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Arash Fazl, Jori Fleisher Source Type: research

Autoimmune movement disorders in children
Over the last decade, there have been significant advances in the identification, characterization, and treatment of autoimmune neurologic disorders in children. Many of these diseases include a characteristic movement disorder that can be a powerful aid to diagnosis. Frequently, movement disorders in autoimmune conditions are the sole or are among a few presenting symptoms, allowing for earlier diagnosis of an underlying malignancy or systemic autoimmune disease. Given that early detection and treatment with immunotherapy may confer improved outcomes, recognizing these patterns of abnormal movements is essential for child...
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Coral M. Stredny, Jeff L. Waugh Source Type: research

Paroxysmal dyskinesias
(PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), non-kinesigenic (PNKD) and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure or other movement disorders. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 27, 2017 Category: Neurology Authors: Sara McGuire, Swati Chanchani, Divya S. Khurana Source Type: research

Stereotypic Movement Disorders
This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 26, 2017 Category: Neurology Authors: Mackenzie Katherine Source Type: research

Stereotypic Movement Disorders
This review summarizes motor stereotypies in terms of diagnosis, description, prevalence, pathophysiology and management. Stereotypies are fixed and chronic movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence whereas secondary stereotypies occur in the setting of an additional diagnosis such as Autism Spectrum Disorder (ASD) or other neurologic disorders. They are highly associated with co-morbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 26, 2017 Category: Neurology Authors: Katherine Mackenzie Source Type: research

Clinical Approach to a Child with Movement Disorders
Assessing movement can be especially challenging in children. Refined yet flexible observational examination skills and utilization of established phenomenological approaches are essential in distinguishing normal from abnormal movements in the developing child and reaching an appropriate diagnosis. Mastering such skill requires an appreciation of the unique features of the developing motor system and an understanding of key concepts underlying normal motor development in children. Establishing a trusting therapeutic relationship with the patient and family, minimizing anxiety, and utilizing observation and distraction dur...
Source: Seminars in Pediatric Neurology - December 20, 2017 Category: Neurology Authors: Jennifer A. O ’Malley, Donald L. Gilbert Source Type: research

Psychiatric Treatment and Management of Psychiatric Comorbidities of Movement Disorders
Pediatric movement disorders may present with psychiatric symptoms at many points during the course of the disease. For the relatively common pediatric movement disorder, Tourette syndrome, psychiatric comorbidities are well-described and treatment is well-studied. Managing these comorbidities may be more effective than improving the movements themselves. For more uncommon movement disorders, such as juvenile-onset Huntington disease, treatment of psychiatric comorbidities is not well-characterized, and best-practice recommendations are not available. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 20, 2017 Category: Neurology Authors: Kelda Harris Walsh, Katherine Soe, Shivali Sarawgi Source Type: research