Tic Disorders and PANDAS
Tics are the most common movement disorder in childhood and are a frequent reason for referral to child neurology clinics. The purpose of this review is to examine the phenomenology of tics, discuss what is known regarding their genetic and pathophysiological causes and to evaluate current treatment options. The evidence for the evaluation and treatment of the controversial diagnosis of pediatric autoimmune neuropsychiatric disorders associated with group A streptococci (PANDAS) will also be reviewed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 20, 2017 Category: Neurology Authors: Joanna S. Blackburn 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

Clinical Approach to a Child with Disordered Movements
Assessing movement can be especially challenging in children. Refined yet flexible observational exam 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 during phy...
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. Treating these comorbidities may be more effective than treating 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

Tics Disorders and PANDAS
Tics are the most common movement disorder in childhood and are a frequent reason for referral to child neurology clinics. The purpose of this review is to examine the phenomenology of tics, discuss what is known regarding their genetic and pathophysiologic causes and to evaluate current treatment options. The evidence for the evaluation and treatment of the controversial diagnosis of Pediatric Autoimmune Neuropsychiatric Disorders Associated with group A Streptococci (PANDAS) will also be reviewed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - December 20, 2017 Category: Neurology Authors: Joanna Sarah Blackburn Source Type: research

In Memoriam: Isabelle Rapin, MD (1927-2017)
Isabelle Rapin attended the University of Lausanne Medical School and received her medical degree in 1952. She arrived in New York City in 1953 for an internship in pediatrics at Bellevue Hospital, followed by a neurology residency at New York Neurological Institute at Columbia-Presbyterian Hospital. In 1958, she was recruited to the Department of Neurology at the Albert Einstein College of Medicine of Yeshiva University. She quickly established a training program for child neurology and over the next 50 plus years Dr Rapin helped train over 100 child neurology residents, and many more adult neurologists. (Source: Seminars...
Source: Seminars in Pediatric Neurology - November 2, 2017 Category: Neurology Source Type: research

Introduction
Children with epilepsy are at increased risk for cognitive, behavioral and mental health problems. The co-occurrence of neurodevelopmental disorders is significantly higher in patients with complicated epilepsy or epileptic encephalopathies. Deficits in cognition and executive function can predate the onset of seizures, suggesting that these clinical manifestations are the co-expression of a common developmental brain disorder. Comorbid conditions associated with childhood epilepsy also include headaches, sleep disorders, autonomic dysregulation and problems with bone health or endocrine system. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 2, 2017 Category: Neurology Source Type: research

In Memoriam: Isabelle Rapin, M.D. (1927 –2017)
Isabelle Rapin attended the University of Lausanne Medical School and received her medical degree in 1952. She arrived in New York City in 1953 for an internship in pediatrics at Bellevue Hospital, followed by a neurology residency at New York Neurological Institute at Columbia-Presbyterian Hospital. In 1958, she was recruitonsider changing this portion?ed to the Department of Neurology at the Albert Einstein College of Medicine of Yeshiva University and she quickly established a training program for child neurology. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - November 2, 2017 Category: Neurology Source Type: research

Attention Deficit Hyperactivity Disorder and Associated Cognitive Dysfunction in Pediatric Epilepsy
Attention deficit hyperactivity disorder (ADHD) is the most common neuropsychiatric comorbidity associated with childhood epilepsy, affecting about a third of children with epilepsy. In contrast, ADHD in the general population occurs in 4%-12% of school-aged children. The cause of this association remains unclear. It is likely that common mechanisms underlie the vulnerability for both executive deficits and epileptogenesis. There are characteristics unique to children with ADHD and epilepsy. The inattentive type of ADHD is more prevalent than the combined presentation in children with epilepsy, while the combined type is m...
Source: Seminars in Pediatric Neurology - October 25, 2017 Category: Neurology Authors: Jorge Vidaurre, Jaime Dawn E. Twanow Source Type: research

ADHD and associated cognitive dysfunction in pediatric epilepsy
ADHD is the most common neuropsychiatric comorbidity associated with childhood epilepsy, affecting about a third of children with epilepsy. In contrast, ADHD in the general population occurs in 4 to12% of school aged children. The cause of this association remains unclear. It is likely that common mechanisms underlie the vulnerability for both executive deficits and epileptogenesis.There are characteristics unique to children with ADHD and epilepsy. The inattentive type of ADHD is more prevalent than the combined presentation in children with epilepsy, while the combined type is more common in the general population. (Sour...
Source: Seminars in Pediatric Neurology - October 25, 2017 Category: Neurology Authors: Jorge Vidaurre, Jaime Dawn E. Twanow Source Type: research

Cognitive and behavioral comorbidities: An unwanted effect of antiepileptic drugs in children
Epilepsy is one of the most common neurological disorders and, despite optimally chosen and dosed antiepileptic drugs (AEDs), approximately 20 –30% of patients will continue to have seizures. Behavior and cognition are negatively impacted by seizures, but AEDs are also a major contributor to behavioral and cognitive deficits. However, the cognitive and behavioral impact of AEDs in children is insufficiently emphasized in the literature. This review summarizes the cognitive and behavioral effects of AEDs in the pediatric population with the objective of helping pediatricians and pediatric neurologists to select the AE...
Source: Seminars in Pediatric Neurology - October 25, 2017 Category: Neurology Authors: Adriana Ulate-Campos, Ivan S ánchez Fernández Source Type: research

Cognitive Outcome after Epilepsy Surgery in Children
Cognitive dysfunction in children with epilepsy is primarily contributed by etiology, seizures, frequency of inter-ictal epileptiform discharges, and adverse effects of anti-epileptic drugs. The direct impact of epilepsy surgery on cognitive outcome depends on 2 key factors: the function that is present in the epileptogenic zone to be removed, and the dysfunction outside the epileptogenic zone caused by epilepsy. Studies on cognitive outcome in children after various types of epilepsy surgery estimate ‘no significant change′ in about 70% of children, improvement in cognition in 10–15%, and decline in 10&n...
Source: Seminars in Pediatric Neurology - October 25, 2017 Category: Neurology Authors: Ahsan N.V. Moosa, Elaine Wyllie Source Type: research

Bone Health and Endocrine Comorbidities in Pediatric Epilepsy
Antiseizure medications and dietary therapies have associated effects on the endocrine system. We provided an overview of the association between epilepsy treatment and bone health in children with epilepsy. Additionally, we discussed the effects of epilepsy treatment on other endocrine systems including thyroid function, growth, reproduction, and weight. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 13, 2017 Category: Neurology Authors: N.A. McNamara, E.M. Fedak Romanowski, D.P. Olson, R.A. Shellhaas Source Type: research

Early Life Epilepsies are a Comorbidity of Developmental Brain Disorders
Early-life epilepsies are a series of disorders frequently accompanied by a broad range of morbidities that include cognitive, behavioral, neuromuscular, and sleep disturbances; enteric and other forms of autonomic dysfunction; sensory processing difficulties; and other issues. Usually these morbidities cluster together in a single patient. Rather than these being separate conditions, all, including the seizures, are manifestations or coexpressions of developmental brain disorders. Instead of viewing epilepsy as the disease and the other features as comorbidities, approaching early-life epilepsies as part of the spectrum o...
Source: Seminars in Pediatric Neurology - October 9, 2017 Category: Neurology Authors: Anne T. Berg, Daniel Tarquinio, Sookyong Koh Source Type: research

Early life epilepsies are a coexpression of developmental brain disorders
Early-life epilepsies are series disorders frequently accompanied by a broad range of morbidities that include cognitive, behavioral, neuromuscular, and sleep disorders; enteric and other forms of autonomic dysfunction; sensory processing disorders; and other issues. Usually these morbidities cluster together in a single patient, multimorbidity. Rather than these being separate disorders, all, including the seizures, are manifestations or coexpressions of developmental brain disorders. Instead of viewing epilepsy as the disorder and the other features as comorbidities, approaching early-life epilepsies as part of the spect...
Source: Seminars in Pediatric Neurology - October 9, 2017 Category: Neurology Authors: Anne T. Berg, Daniel Tarquinio, Sookyong Koh Source Type: research

Early life epilepsies are a co-expression of developmental brain disorders
Early life epilepsies are series disorders frequently accompanied by a broad range of morbidities that include cognitive, behavioral, neuromuscular, and sleep disorders; enteric and other forms of autonomic dysfunction; sensory processing disorders; and other issues. Usually these morbidities cluster together in a single patient, multimorbidity. Rather than these being separate disorders, all, including the seizures, are manifestations or co-expressions of developmental brain disorders (DBD). Instead of viewing epilepsy as the disorder and the other features as comorbidities, approaching early life epilepsies as part of th...
Source: Seminars in Pediatric Neurology - October 9, 2017 Category: Neurology Authors: Anne T. Berg, Daniel Tarquinio, Sookyong Koh Source Type: research

Effect of Epilepsy on Families, Communities, and Society
The effect of epilepsy extends beyond those with the diagnosis and impacts families, communities and society. Caregiver and sibling quality of life is often negatively affected by frequent seizures, comorbid behavioral and sleep disorders and stigma surrounding the diagnosis. Furthermore, the negative affects can be magnified by individual coping styles and resources available to families of those with epilepsy. Beyond the family and immediate caregivers, epilepsy affects local communities by drawing additional resources from education systems. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 7, 2017 Category: Neurology Authors: Adam P. Ostendorf, Satyanarayana Gedela Source Type: research

Cognitive and Social Outcomes of Epileptic Encephalopathies
The term “epileptic encephalopathy” denotes a disorder in which seizures or frequent interictal discharges exacerbate neurocognitive dysfunction beyond what would be expected on the basis of underlying etiology. However, many underlying causes of epileptic encephalopathy also result in neurocognitive def icits, and it can be challenging to discern to what extent these deficits can be improved with better seizure control. Additionally, as seizures in these conditions are typically refractory, children are often exposed to high doses of multiple antiepileptic drugs which further exacerbate these co-mo rbidities. ...
Source: Seminars in Pediatric Neurology - October 7, 2017 Category: Neurology Authors: Katherine C. Nickels, Elaine C. Wirrell Source Type: research

What is the Relationship between Autism Spectrum Disorders and Epilepsy?
The association of epilepsy and autism spectrum disorders (ASD) is best understood by examining the relationship between social cognition, non-social cognition, and epilepsy. The relationship between ASD and epilepsy is bi-directional and is strongly linked to intellectual disability (ID). The risk of developing ASD in children with epilepsy is highest in children with early onset seizures, with a high prevalence in children with infantile spasms. The risk of developing epilepsy in children first diagnosed with ASD is highest in those with ID. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 7, 2017 Category: Neurology Authors: Roberto Tuchman Source Type: research

Impact of Epilepsy on Families, Communities and Society
The effect of epilepsy extends beyond those with the diagnosis and impacts families, communities and society. Caregiver and sibling quality of life is often negatively affected by frequent seizures, comorbid behavioral and sleep disorders and stigma surrounding the diagnosis. Furthermore, the negative impacts can be magnified by individual coping styles and resources available to families of those with epilepsy. Beyond the family and immediate caregivers, epilepsy impacts local communities by drawing additional resources from education systems. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 7, 2017 Category: Neurology Authors: Adam P. Ostendorf, Satyanarayana Gedela Tags: 4th issue- Complications of Epilepsy Source Type: research

Cognitive disabilities and long-term outcomes in children with epilepsy: A tangled tail
Cognitive problems ranging from mild specific learning problems to profound intellectual disability (ID) are very common in children with epilepsy. For most affected patients there is good evidence that the cognitive problems are present at the onset of seizures and do not deteriorate over time. There is no evidence that a few seizures lead to cognitive deterioration. An exception may occur in children with epileptic encephalopathies, although this contention is not always easy to prove. Intellectual disability is a strong predictor of intractable epilepsy, and the greater the degree of the ID the greater the risk of medic...
Source: Seminars in Pediatric Neurology - October 6, 2017 Category: Neurology Authors: Carol Camfield, Peter Camfield Tags: Original article Source Type: research

Neurocognitive Comorbidities in Pediatric Epilepsy: Lessons in the Laboratory and Clinical Profile
This article starts with an overview of the current data on animal model research, studying the influence of early-life seizures, followed by a summary of potential cellular and molecular mechanisms by which seizures can affect cognitive development. We then describe specific abnormal neuropsychological profiles that accompany specific pediatric epilepsy syndromes. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 6, 2017 Category: Neurology Authors: Lily H. Tran, Mary L. Zupanc Source Type: research

Neurocognitive Comorbidities in Pediatric Epilepsy: Lessons in the Lab and Clinical Profile
This article starts with an overview of the current data on animal model research, studying the influence of early-life seizures, followed by a summary of potential cellular and molecular mechanisms by which seizures can impact cognitive development. We then describe specific abnormal neuropsychological profiles that accompany specific pediatric epilepsy syndromes. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - October 6, 2017 Category: Neurology Authors: Lily H. Tran, Mary L. Zupanc Source Type: research

Pediatric Headache and Seizures
Headache and seizure are two of the most common complaints seen in the field of pediatric neurology with headache being number one. Both these conditions may coexist. Where the difficulty begins is when the symptoms are not clear cut in making a diagnosis, and conditions are possible as either an atypical seizure or migraine variant. What further complicates matters is the fact that there are many underlying neurologic conditions that carry with them a higher likelihood of developing both headaches and seizures, making each a distinct possibility when obtaining a history from a parent about unusual spells. (Source: Seminar...
Source: Seminars in Pediatric Neurology - October 6, 2017 Category: Neurology Authors: Christopher B. Oakley, Eric H. Kossoff Source Type: research

Cognitive disabilities and long term outcomes in children with epilepsy: a tangled tail
Cognitive problems ranging from mild specific learning problems to profound intellectual disability (ID) are very common in children with epilepsy. For most affected patients there is good evidence that the cognitive problems are present at the onset of seizures and do not deteriorate over time. There is no evidence that a few seizures lead to cognitive deterioration. An exception may occur in children with epileptic encephalopathies, although this contention is not always easy to prove. Intellectual disability is a strong predictor of intractable epilepsy, and the greater the degree of the ID the greater the risk of medic...
Source: Seminars in Pediatric Neurology - October 6, 2017 Category: Neurology Authors: Carol Camfield, Peter Camfield Source Type: research

Neuroinflammation in Ischemic Pediatric Stroke
Over the last decades, the importance of inflammatory processes in pediatric stroke have become increasingly evident. Ischemia launches a cascade of events: activation and inhibition of inflammation by a large network of cytokines, adhesion and small molecules, protease, chemokines. There are major differences in the neonatal brain compared to adult brain, but developmental trajectories of the process during childhood are not yet well known. In neonatal stroke ischemia is the leading pathophysiology, but infectious and inflammatory processes have a significant input into the course and degree of tissue damage. (Source: Sem...
Source: Seminars in Pediatric Neurology - September 19, 2017 Category: Neurology Authors: Maja Steinlin Source Type: research

Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) α-B-crystallin, and (4) Role of Astrocytes
Though the term “inflammation” is traditionally defined as proliferation or infiltration of lymphatic cells of the lymphatic immune system and macrophages or as immunoreactive proteins including cytokines, interleukins and major histocompatibility complexes, recently recognized reactions to tissue injury also a re inflammation, often occurring in the central nervous system in conditions where they previously were not anticipated and where they may play a role in both pathogenesis and repair. We highlight 4 such novel inflammatory conditions revealed by neuropathologic studies: (1) inflammatory markers and cells...
Source: Seminars in Pediatric Neurology - September 13, 2017 Category: Neurology Authors: Harvey B. Sarnat, Morris H. Scantlebury Source Type: research

Novel Inflammatory Neuropathology in Immature Brain: 1. Fetal Tuberous Sclerosis; 2. Febrile Seizures; 3. α-B-crystallin; 4. Role of Astrocytes
Though the term “inflammation” is traditionally defined as proliferation or infiltration of lymphatic cells of the lymphatic immune system and macrophages or as immunoreactive proteins including cytokines, interleukins and major histocompatibility complexes, recently recognized reactions to tissue injury also a re inflammation, often occurring in the CNS in conditions where they previously were not anticipated and where they may play a role in both pathogenesis and repair. We highlight four such novel inflammatory conditions revealed by neuropathological studies: 1) inflammatory markers and cells in the br ain ...
Source: Seminars in Pediatric Neurology - September 13, 2017 Category: Neurology Authors: Harvey B. Sarnat, Morris H. Scantlebury Source Type: research

Cancer and Autoimmunity: Paraneoplastic Neurological Disorders Associated With Neuroblastic Tumors
Cancer and autoimmunity come together in paraneoplastic syndromes (PNS), which reflect the remote, not direct, effects of cancer. In the pediatric population, a variety of PNS have been described, but the most common of these rare disorders are instigated by neuroblastic tumors, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. The main pediatric-onset neurological PNS are ROHHAD syndrome, anti-ANNA1 (anti-Hu), and opsoclonus-myoclonus syndrome. They manifest distinctive neurological features, which aid the diagnosis, though under-recognition still poses serious challenges and risks. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - September 1, 2017 Category: Neurology Authors: Wendy G. Mitchell, Franz Blaes Source Type: research

Cancer and Autoimmunity: Paraneoplastic Neurologic Disorders Associated with Neuroblastic Tumors
Cancer and autoimmunity come together in paraneoplastic syndromes (PNS), which reflect the remote, not direct, effects of cancer. In the pediatric population, a variety of PNS have been described, but the most common of these rare disorders are instigated by neuroblastic tumors, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. The main pediatric-onset neurological PNS are ROHHAD syndrome, anti-ANNA1 (anti-Hu), and opsoclonus-myoclonus syndrome (OMS). They manifest distinctive neurological features, which aid the diagnosis, though under-recognition still poses serious challenges and risks. (Source: Seminars ...
Source: Seminars in Pediatric Neurology - September 1, 2017 Category: Neurology Authors: Wendy G. Mitchell, Franz Blaes Tags: Issue 3 from Dr. Michale Pranzatelli Source Type: research

Autoimmune Epilepsies
Autoimmune epilepsies describe clinical syndromes wherein the immune system is suspected to be involved in the pathogenesis of seizures or as a mechanism for neuronal injury following seizures. These diseases typically affect otherwise healthy children and are characterized by explosive onset of focal seizures, encephalopathy, cognitive deterioration, and/or other focal neurologic deficits. Traditional neurologic diagnostics lack sensitivity and specificity in the diagnosis of autoimmune epilepsies, and results must be considered in the clinical context. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - September 1, 2017 Category: Neurology Authors: Anusha K. Yeshokumar, Carlos A. Pardo Source Type: research

Introduction
“Although the way ahead is full of pitfalls and difficulties, this is indeed an exhilarating prospect…. The highlights of tomorrow are the unpredictibilities of today.” (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 25, 2017 Category: Neurology Authors: Michael R. Pranzatelli Source Type: research

The spectrum of inflammatory acquired demyelinating syndromes in children
Acquired demyelinating syndromes in childhood comprise a spectrum of monophasic and recurrent inflammatory conditions of the central nervous system. Examples of monophasic conditions include, clinically isolated syndromes such as optic neuritis and transverse myelitis, as well as acute disseminated encephalomyelitis, while recurrent disorders include entities such as multiple sclerosis and neuromyelitis optica spectrum disorder. Knowledge about these disorders has expanded due to rigorously evaluated diagnostic criteria, MRI features, outcomes and serum biomarkers in these disorders. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 22, 2017 Category: Neurology Authors: R.F. Neuteboom, C. Wilbur, E.D. Van Pelt, M. Rodriguez, E.A. Yeh Source Type: research

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure type. Until recently, the cause of many epileptic encephalopathies was unknown. Whole exome or whole genome sequencing has led to the identification of several causal genes in individuals with epileptic encephalopathy, and the list of genes has now expanded greatly. Genetic testing with epilepsy gene panels is now done quite early in the evaluation of children with epilepsy, following brain imaging, electroencephalogram, and metabolic profile. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 16, 2017 Category: Neurology Authors: Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L. Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M. Claasen, Isabelle Schrauwen, Matthew J. Huentelman, David W. Craig, Sampathkumar Rangasamy, Vinodh Narayana Source Type: research

Immunotherapeutics in Pediatric Autoimmune Central Nervous System Disease: Agents and Mechanisms
Beyond the major advances produced by careful clinical-radiological phenotyping and biomarker development in autoimmune central nervous system disorders, a comprehensive knowledge of the range of available immune therapies and a deeper understanding of their action should benefit therapeutic decision-making. This review discusses the agents used in neuroimmunology and their mechanisms of action. First-line treatments typically include corticosteroids, intravenous immunoglobulin, and plasmapheresis, while for severe disease second-line “induction” agents such as rituximab or cyclophosphamide are used. (Source: S...
Source: Seminars in Pediatric Neurology - August 16, 2017 Category: Neurology Authors: Margherita Nosadini, Stefano Sartori, Suvasini Sharma, Russell C. Dale Source Type: research

Immunotherapeutics in Pediatric Autoimmune CNS Disease: Agents and Mechanisms
Beyond the major advances produced by careful clinical-radiological phenotyping and biomarker development in autoimmune CNS disorders, a comprehensive knowledge of the range of available immune therapies and a deeper understanding of their action should benefit therapeutic decision-making. This review discusses the agents used in neuroimmunology and their mechanisms of action. First-line treatments typically include corticosteroids, intravenous immunoglobulin, and plasmapheresis, while for severe disease second-line ‘induction′ agents such as rituximab or cyclophosphamide are used. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 16, 2017 Category: Neurology Authors: Margherita Nosadini, Stefano Sartori, Suvasini Sharma, Russell C. Dale Source Type: research

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure type. Until recently, the cause of many epileptic encephalopathies was unknown. Whole exome or whole genome sequencing has led to the identification of several causal genes in individuals with epileptic encephalopathy, and the list of genes has now expanded greatly. Genetic testing with epilepsy gene panels is now done quite early in the evaluation of children with epilepsy, following brain imaging, electroencephalogram (EEG), and metabolic profile. (Source: Seminars i...
Source: Seminars in Pediatric Neurology - August 16, 2017 Category: Neurology Authors: Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L. Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M. Claasen, Isabelle Schrauwen, Matthew J. Huentelman, David W. Craig, Sampathkumar Rangasamy, Vinodh Narayana Source Type: research

A Neuroprimer: Principles of Central Nervous System Immunity
Despite longstanding perceptions, robust innate and adaptive immune responses occur within the central nervous system (CNS) in response to infection and tissue damage. Although necessary to control infection, immune responses can lead to severe CNS pathology in the context of both viral infection and autoimmunity. Research into how the central nervous and immune systems communicate has accelerated over the past 20 years leading to a better understanding of pathways controlling immune activation and neuroinflammation that have guided the approval of new disease-modifying therapies to treat CNS immunopathology, particularly ...
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Gregory P. Owens Source Type: research

Autoantibody-Associated Movement Disorders in Children: Proven and Proposed
Movement disorders secondary to autoantibodies in children represent a rapidly expanding group of conditions. Once considered to be limited to poststreptococcal Sydenham's chorea or rare cases of childhood systemic lupus erythematosus, a variety of antibody-related movement abnormalities are now seen as part of noninfectious autoimmune encephalitis or within an expanding list of postinfectious disorders. In this article, several proposed autoantibody-mediated movement disorders in children are reviewed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Harvey S. Singer Source Type: research

Autoantibody Associated Movement Disorders in Children: Proven and Proposed
Movement disorders secondary to autoantibodies in children represents a rapidly expanding group of conditions. Once considered to be limited to post streptococcal Sydenham ′s chorea or rare cases of childhood systemic lupus erythematosus, a variety of antibody-related movement abnormalities are now seen as part of non-infectious autoimmune encephalitis or within an expanding list of post-infectious disorders. In this manuscript, several proposed autoantibody mediate d movement disorders in children are reviewed. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Harvey S. Singer Source Type: research

A Neuroprimer: Principles of CNS Immunity
Despite longstanding perceptions, robust innate and adaptive immune responses occur within the central nervous system (CNS) in response to infection and tissue damage. Although necessary to control infection, immune responses can lead to severe CNS pathology in the context of both viral infection and autoimmunity. Research into how the central nervous and immune systems communicate has accelerated over the past 20 years leading to a better understanding of pathways controlling immune activation and neuroinflammation that have guided the approval of new disease-modifying therapies to treat CNS immunopathology, particularly ...
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Gregory P. Owens Source Type: research

Overview of Inflammation in Neurometabolic Diseases
Neuroinflammation is an intrinsic component of the neurodegeneration of inborn errors of neurometabolic diseases. Diseases resulting in lysosomal, peroxisomal, and autophagocytic disruption lead to neuroinflammation by different mechanisms relating to accumulated substrates and/or downstream deficiencies that cause presymptomatic microglial activation, axonal instabilities and/or direct hyperactivation of intrinsic inflammatory mechanisms. Only in selected diseases is the blood brain barrier breached, thereby permitting peripheral adaptive immune mechanisms to amplify intrinsic immune reactions in the central nervous syste...
Source: Seminars in Pediatric Neurology - August 14, 2017 Category: Neurology Authors: Gregory A. Grabowski Source Type: research

Promise, Progress, and Pitfalls in the Search for Central Nervous System Biomarkers in Neuroimmunological Diseases: A Role for Cerebrospinal Fluid Immunophenotyping
Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the “biomarker life-cycle” must be understood to avoid false-positive and false-negative results. Molecular biomarkers will revolutionize the treatment of neurologic diseases, but the rate of progress depends on a bold, visionary stance by neurologists, as well as scientists, biotech and pharmaceuti cal industries, funding agencies, and regulators. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 11, 2017 Category: Neurology Authors: Bibiana Bielekova, Michael R. Pranzatelli Source Type: research

Promise, Progress, and Pitfalls in the Search for CNS Biomarkers in Neuroimmunological Diseases: A Role for CSF Immunophenotyping
Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the “biomarker life-cycle” must be understood to avoid false-positive and false-negative results. Molecular biomarkers will revolutionize the treatment of neurological diseases, but the rate of progressdepends on a bold, visionary stance by neurologists, as well as scientists, biotech and pharmaceut ical industries, funding agencies, and regulators. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - August 11, 2017 Category: Neurology Authors: Bibiana Bielekova, Michael R. Pranzatelli Source Type: research

The More Things Change … Child Neurology in the Age of Next-Generation Sequencing
As a medical student in the 1970s, I was taught (by nonneurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomical variants and unexplained changes in density of brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of magnetic resonance imaging initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our servi...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research

Dominant Optic Atrophy and Leber ’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increase...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Bo Young Chun, Joseph F. Rizzo Source Type: research

The More Things Change … Child Neurology in the Age of Next-Generation Sequencing
As a medical student in the 1970s, I was taught (by nonneurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomical variants and unexplained changes in density of brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of magnetic resonance imaging initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our servi...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research

Dominant Optic Atrophy and Leber ′s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments and ongoing clinical trials of these two optic neuropathies. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Bo Young Chun, Joseph F. Rizzo Source Type: research

The More Things Change … Child Neurology in the Age of Next Generation Sequencing
As a medical student in the 1970s, I was taught (by non-neurologists) that computerized tomography of the brain would soon eliminate the need for neurologists. As it happened, the occurrence of unrecognized anatomic variants and unexplained changes in density in the brain parenchyma led to an increase in requests for neurologic consultations. A thorough history and examination would generally permit reassurance of the child and family. The advent of MRI initiated a similar cycle of predictions that neurologists would be superseded by these more sophisticated imaging machines, only to find that our services were required ev...
Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Marc C. Patterson Source Type: research