Seminars in Pediatric Neurology最新文献

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating disease with a high relapse rate and risk of disability accrual. The condition is an astrocytopathy, with antibodies to the aquaporin-4 (AQP4) water channel being detected in AQP4-IgG seropositive disease. Presentation is uncommon in the pediatric age range, accounting for about 3%-5% of cases. NMOSD is more prevalent in populations of Black or East Asian ancestry. Core clinical syndromes include optic neuritis, acute myelitis, area postrema syndrome, acute brainstem syndrome, acute diencephalic syndrome, and symptomatic cerebral syndrome. First-line treatment options in pediatrics include rituximab, azathioprine, and mycophenolate mofetil. Over half of children with AQP4-IgG seropositive NMOSD develop permanent disability, particularly in visual and motor domains. Novel therapeutic targets in the adult population have been developed and are changing the treatment landscape for this disorder.

Radiologically isolated syndrome refers to the clinical scenario in which individuals have imaging concerning for multiple sclerosis and would otherwise satisfy radiographic dissemination in space criteria, but do not have any attributable signs or symptoms. Radiologically isolated syndrome has been increasingly recognized in the pediatric population and it is understood certain individuals will transition to a formal diagnosis of multiple sclerosis over time. This review aims to outline the available data within this unique population including the diagnostic criteria, epidemiology, risk factors associated with transitioning to multiple sclerosis, and the current therapeutic landscape. Radiologically isolated syndrome will also be positioned within a broader spectrum of demyelinating disease as recent data has pointed towards a likely prodromal phase that precedes a first clinical event and diagnosis of multiple sclerosis. Characterizing the radiographic features, clinical symptoms, and biomarkers that constitute this prodromal phase of multiple sclerosis would help identify patients who may most benefit from early intervention in the future.

Acquired demyelinating syndromes of the central nervous system are immune-mediated demyelinating disorders that can affect the brain, optic nerves, and spinal cord. These disorders have become increasingly recognized in children due to advances in imaging techniques, improvements in diagnostic testing, extensive research into understanding the pathophysiology underlying these disorders, and collaborative multi-institutional efforts to raise awareness of these disorders in children. Moreover, developments in the field of neuroimmunology have allowed us to identify autoantibodies that have presumed causal roles in acquired demyelinating syndromes. Identification of these autoantibodies helps determine clinical course (ie, monophasic vs relapsing course), prognosis, and treatment approach. Acquired demyelinating disorders can affect both children and adults. However, the clinical features, disease course, and treatments are often unique in the pediatric population. Thus, it is important to understand the spectrum of these disorders in children to help provide a timely diagnosis and prompt treatment to achieve optimal outcomes. In this article, the epidemiology, clinical features, diagnosis, treatment, and outcomes of the most common monophasic acquired demyelinating syndromes in children will be reviewed.

Pediatric multiple sclerosis (MS) accounts for 3%-10% of all patients diagnosed with MS. Complex interplay between environmental factors impacts the risk for MS and may also affect disease course. Many of these environmental factors are shared with adult-onset MS. However, children with MS are in closer temporal proximity to the biological onset of MS and have less confounding environmental exposures than their adult counterparts. Environmental factors that contribute to MS risk include: geographical latitude, viral exposures, obesity, vitamin deficiencies, smoking, air pollution, perinatal factors, gut microbiome, and diet. More recently, research efforts have shifted to studying the impact of these risk determinants on the clinical course of MS. In this article we will examine relevant environmental risk determinants of pediatric MS and review the current knowledge on how these factors may contribute to pediatric MS disease evolution.

The current diagnostic criteria for pediatric onset multiple sclerosis (POMS) are summarized, as well as the evidence for performance of the most recent iteration of McDonald criteria in the pediatric population. Next, the varied roles of MRI in POMS are reviewed, including diagnostic considerations and research-based utilization. The primary role of bloodwork and cerebrospinal fluid studies in the diagnosis of POMS is to rule out disease mimics. Prognostically, POMS portends a more inflammatory course with higher relapse rate and disability reached at younger ages compared with AOMS counterparts. As such, there is an emerging trend toward the earlier use of highly efficacious disease modifying therapies to target prompt immunomodulatory disease control. Current POMS disease modifying therapies (DMTs) and active clinical POMS trials are detailed.

A structured health care transition is essential for adolescents with chronic disease to ensure continuity of care without treatment lapse. Though rare, multiple sclerosis is diagnosed in children and adolescents and these patients will eventually require transition to adult care in late adolescence and early adulthood. Some barriers to transition include limited independence of the adolescent, fear of an unknown adult care model, and difficulty ending close relationships with longstanding pediatric providers. For optimal success, transition planning should be started in the early teenage years, and graduated independence and self-management skills should be fostered over time. Providers should also be aware of the developmental evolution of adolescents when assessing transition readiness and should screen for barriers during routine clinic visits to ensure that these are addressed prior to the time of transfer.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), also known as Coronavirus-19 (COVID-19) infection, has been associated with several neurological symptoms, including acute demyelinating syndromes (ADS). There is a growing body of literature discussing COVID-19 and demyelinating conditions in adults; however, there is less published about COVID-19 demyelinating conditions in the pediatric population. This review aims to discuss the impact of COVID-19 in pediatric patients with central nervous system ADS (cADS) and chronic demyelinating conditions. We reviewed PubMed, Google Scholar, and Medline for articles published between December 1, 2019 and October 25, 2022 related to COVID-19 and pediatric demyelinating conditions. Of 56 articles reviewed, 20 cases of initial presentation of ADS associated with COVID-19 were described. The most commonly described cADS associated with COVID-19 infection in children was Acute Disseminated Encephalomyelitis followed by Transverse Myelitis. Cases of Myelin Oligodendrocyte Glycoprotein Antibody Disease, Neuromyelitis Optica Spectrum Disorder, and Multiple Sclerosis are also described. The risk of severe COVID-19 in pediatric patients with demyelinating conditions appears low, including in patients on disease modifying therapies, but studies are limited. The pandemic did affect disease modifying therapies in ADS, whether related to changes in prescriber practice or access to medications. COVID-19 is associated with ADS in children and the COVID-19 pandemic has impacted pediatric patients with demyelinating conditions in various ways.

The management of pediatric neurosurgical disease often requires families to choose between long-term disability and premature death. This decision-making is codified by informed consent. In practice, decision-making is heavily weighted toward intervening to prevent death, often with less consideration of the realities of long-term disability. We analyze long-term disability in pediatric neurosurgical disease from the perspectives of patients, families, and society. We then present a pragmatic framework and conversational approach for addressing informed consent discussions when the outcome is expected to be death or disability. We performed a focused review of literature regarding informed consent in pediatric neurosurgery by searching PubMed and Google Scholar with search terms including “pediatric neurosurgery,” “informed consent,” and “disability.” The literature was focused on patients with diagnoses including spina bifida, neuro-oncology, trauma, and hydrocephalus. Patient perspective elements were physical/mental disability, lack of autonomy, and role in community/society. The family perspective involves caregiver burden, emotional toll, and financial impact. Societal considerations include the availability of public resources for disabled children, large-scale financial cost, and impacts on global health. Practical conversational steps with patients/caregivers include opening the discussion, information provision and acknowledgement of uncertainty, assessment of understanding and clarifying questions, decision-making, and decision maintenance, all while remaining sensitive to the emotional burden commensurate with these decisions. The “death or disability” paradigm represents a common challenge to informed consent in pediatric neurosurgery. Patient, family, and societal factors that inform surrogate decisions vary and sometimes conflict. Pediatric neurosurgeons must use a comprehensive approach to address the informational and relational needs of caregivers during the informed consent process.