Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.

Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy-10 (OPA10) is an autosomal recessive ION recently reported to be caused by mutations in RTN4IP1, which encodes reticulon 4 interacting protein 1 (RTN4IP1), a mitochondrial ubiquinol oxydo-reductase. Here we report novel compound heterozygous mutations in RTN4IP1 in a male proband with developmental delay, epilepsy, optic atrophy, ataxia, and choreoathetosis. Workup was notable for transiently elevated lactate and lactate-to-pyruvate ratio, brain magnetic resonance imaging with optic atrophy and T2 signal abnormalities, and a nondiagnostic initial genetic workup, including chromosomal microarray and mitochondrial panel testing. Exome sequencing identified a paternally inherited missense variant (c.263T>G, p.Val88Gly) predicted to be deleterious and a maternally inherited deletion encompassing RTN4IP1. To our knowledge, this is the first report of a non-single nucleotide pathogenic variant associated with OPA10. This case highlights the expanding phenotypic spectrum of OPA10, the association between "syndromic" cases and severe RTN4IP1 mutations, and the importance of nonbiased genetic testing, such as ES, to analyze multiple genes and variants types, in patients suspected of having genetic disease.

Assessment and Treatment of Concussion in the Pediatric Population.

Traumatic brain injury (TBI) is common in children. The evaluation and management of children with TBI is based on the research performed in adults. There is a relative paucity of research in the literature involving children and many of the practice recommendations for this age are based on expert opinion in the absence of good research studies in both sports and non-sports-related injuries. The pediatric population is heterogeneous and the approach might be specific for infants, preschoolers, school age children, and adolescents. Children may also suffer from neurodevelopmental disabilities, making their evaluation even more challenging. Adult neurologists are often asked to see children due to increasing demands. This review will focus on specific issues related to TBI in children that might be useful to adult neurologists. Science, however, is evolving rapidly and physicians should make sure to remain up to date to offer evidence-based services to their patients.

Copy number variation plays an important role in clinical epilepsy.

OBJECTIVE: To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center. METHODS: We identified patients with International Classification of Diseases, ninth revision (ICD-9) codes for epilepsy or seizures and clinical CMA testing performed between October 2006 and February 2011 at Boston Children's Hospital. We reviewed medical records and included patients who met criteria for epilepsy. We phenotypically characterized patients with epilepsy-associated abnormalities on CMA. RESULTS: Of 973 patients who had CMA and ICD-9 codes for epilepsy or seizures, 805 patients satisfied criteria for epilepsy. We observed 437 copy number variants (CNVs) in 323 patients (1-4 per patient), including 185 (42%) deletions and 252 (58%) duplications. Forty (9%) were confirmed de novo, 186 (43%) were inherited, and parental data were unavailable for 211 (48%). Excluding full chromosome trisomies, CNV size ranged from 18kb to 142Mb, and 34% were >500kb. In at least 40 cases (5%), the epilepsy phenotype was explained by a CNV, including 29 patients with epilepsy-associated syndromes and 11 with likely disease-associated CNVs involving epilepsy genes or "hotspots." We observed numerous recurrent CNVs including 10 involving loss or gain of Xp22.31, a region described in patients with and without epilepsy. INTERPRETATION: Copy number abnormalities play an important role in patients with epilepsy. Because the diagnostic yield of CMA for epilepsy patients is similar to the yield in autism spectrum disorders and in prenatal diagnosis, for which published guidelines recommend testing with CMA, we recommend the implementation of CMA in the evaluation of unexplained epilepsy.

Current Evidence: Seizures in Extremely Low Gestational Age Newborns (ELGANs).

Extremely low gestational age newborns (ELGANs) are born at or below 28 weeks of gestational age. Despite improved obstetric care, the incidence of preterm birth continues to rise in advanced countries. Preterm birth remains a major cause of infant mortality, and for infants who survive, neonatal seizures are a significant predictor of later neurologic morbidity. However, little is known about risk factors for neonatal seizures in ELGANs. Understanding the association between neonatal seizures and the development of other neurologic disorders is important given the increasing prevalence of ELGANs. Identifying risk factors that contribute to the development of neonatal seizures in ELGANs may offer insights into novel mechanisms of epileptogenesis in the developing brain and improvements in the prevention or treatment of seizures in preterm infants, including ELGANs. In this literature review, we outline the limitations of epidemiologic studies of neonatal seizures in ELGANs and discuss risk factors for neonatal seizures.

Pediatric traumatic brain injuries in war zones: a systematic literature review.

Background: Pediatric casualties in war zones are a devastating consequence of armed conflicts, causing significant challenges for affected children, especially in the context of poor access to care. This study aimed to understand traumatic brain injuries (TBIs) in this high-risk population and to identify and provide information for the stakeholders, as well as to recognize severe long-term consequences and develop strategies to prevent them, thus minimizing their burden while aiding in the management of these cases. Methods: We carried out a systematic literature review following PRISMA guidelines to identify publications discussing traumatic brain injuries in children in the context of war zones, and we analyzed all the collected data. Results: Our study showed that head injuries were the most common casualty in war zones; male and female children were affected, and the mean age was 8-10 years. Most children were reported to be from Afghanistan, and blasts were the most common mechanism of injury. The mortality fluctuated from 3 to 47%. Conclusion: There is a lack of evidence-based information regarding the characterization, approach, and management of children with TBI in conflict zones. While the world finds ways to live in peace, there is an urgency to research, train, and deploy enough specialists to these areas, if governments are serious about improving outcomes for this population.

[Care for patients with traumatic brain injury]. / La atención en pacientes con lesión traumática cerebral.

Traumatic brain injury (TBI) as well as Attention Deficit Disorder with or without hyperactivity (ADHD) are very common problems that affect children. It is known that patients who suffer a traumatic brain injury may present symptoms of ADHD, which often go unnoticed in the acute period, especially when there are more serious injuries that hide them and are only evident when the patient returns to their regular cognitive activity after discharge. Symptoms can vary depending on the mechanism of injury, the location in the brain where the trauma or its effects occur, complications, and the severity of the injury. Some symptoms of TBI are identical to those of ADHD, making the diagnosis of these patients more difficult to discern either because the patient or their parents report them together or when the patient already had pre-existing ADHD. We describe some clinical scenarios in this article in which there is an interaction between these two processes that are explained in part because both can affect similar nerve conduction pathways and neurotransmitters. The clinician must recognize attention problems in patients with TBI and other presentations and offer appropriate and timely treatment when symptoms interfere with the patient's functioning. Treatment of ADHD in patients with TBI uses accommodations and medications similar to those used in patients who only have ADHD, but depending on the severity, they can vary in duration.

La lesión traumática cerebral (LTC) al igual que el trastorno por déficit de atención con o sin hiperactividad (TDAH) son problemas muy frecuentes que afectan a los niños. Es conocido que los pacientes que sufren una lesión traumática cerebral pueden presentar síntomas del TDAH, los cuales a menudo pasan desapercibidos en el período agudo, especialmente cuando hay lesiones más graves que los ocultan y solo se evidencian cuando el paciente regresa a su actividad cognitiva regular después del alta. Los síntomas pueden variar dependiendo del mecanismo de lesión, el lugar del cerebro en donde ocurre el trauma o sus efectos, complicaciones y la severidad de la lesión. Algunos síntomas de LTC son idénticos a los del TDAH, haciendo que el diagnóstico de estos pacientes sea más difícil de discernir, ya sea porque el paciente o sus padres los reportan juntos cuando el paciente ya tenía un TDAH preexistente. Existen algunos escenarios clínicos que describimos en este artículo en los cuales hay una interacción entre estos dos, que se explican en parte porque ambos pueden afectar vías de conducción nerviosa y neurotransmisores similares. El clínico debe reconocer los problemas de atención en los pacientes con LTC y otras presentaciones y ofrecer tratamiento adecuado y oportuno cuando los síntomas interfieren con el funcionamiento del paciente. El tratamiento del TDAH en pacientes con LTC usa acomodaciones y medicamentos similares a los que se usan en pacientes que solo tienen TDAH, pero dependiendo de la severidad pueden variar en su duración.

Spontaneous remission in juvenile myasthenia gravis: A cohort of 13 cases and review of the literature.

We describe the clinical course of patients with juvenile myasthenia gravis who experienced spontaneous remission and review the literature. This is a retrospective study of 13 patients with spontaneous remission from a cohort of 133 patients younger than 18-years-old. We compared several variables with potential prognostic value in patients with and without spontaneous remission. Ten percent of patients (13/133) experienced spontaneous remission. There was no difference in age at onset or sex compared to the overall JMG population. Spontaneous remission occurred in 2/40 (5.0%; 95% CI: 0.6-16.9) patients in Class I (ocular); in 11/53 (20.8%; 95% CI: 10.8-34.1) patients in Class II-III (mild, moderate, generalized) (p < 0.0018) and in 0/40 patients in Class IV-V (severe, needs intubation). Of the AChR antibody positive patients, 10/97 (10.3%; 95% CI: 5.0-18.1) had spontaneous remission, compared with 2/29 (6.9%; 95% CI: 0.9-22.8) of those without AChR antibodies (p = 0.583). Strikingly, none of the 36 patients with thyroid antibodies had spontaneous remission compared with 13/58 (22.4%) of those without thyroid antibodies (95% CI: 7.3-21.8; p < 0.001). Ten percent of patients with juvenile myasthenia gravis achieved spontaneous remission, mainly in those with Class II-III disease and no associated thyroid antibodies.

Professional and Demographic Profile of Spanish-Speaking Child Neurologists in the United States.

>Objective: To ascertain the prevalence of culturally native Spanish-speaking child neurologists in the United States. Methods: Prevalence statistics regarding demographic and work profile were applied to data obtained from a cross-sectional electronic survey of Child Neurology Society (CNS) members. Results: Demographics of the 135 respondents were comparable to a similar CNS survey except for ethnicity as shown in Table 1. Fifty- three percent were male and 24% were over age 60. Approximately a quarter were represented each from East, South, Midwest, and Western US. 42% self-identified as Spanish, Hispanic, or Latino. 62% spoke English as their primary language and 39% spoke Spanish as their primary language. Two-thirds graduated from a US medical school, 51% practice general neurology, and epilepsy was the most common subspecialty (18%). Two-thirds of respondents practice at a major teaching hospital, and 93% hold university academic appointments. 79% are AAN members. 76% did not have medical student debt at the time of the survey. 29% report signs consistent with burnout. 87% would choose Child Neurology again and 96% would recommend Child Neurology to a medical student. Conclusion: 40% of survey respondents self-identified as Hispanic, Latino or Spanish and spoke Spanish as the primary language and the majority practice in Academic Medicine. Nearly a third of those in the current survey identify burnout symptoms. Consideration of distinctive language and cultural characteristics across the US may lead to provision of a more patient-centered and equitable care.

[Autoimmune encephalitis in pediatric population]. / Encefalitis autoinmune en población pediátrica.

Autoimmune encephalitis can be defined as central nervous system inflammation, secondary to multiple causes, where we can possibly identify the formation of auto-antibody against neurotransmitter receptors or neuronal surface proteins. Approximately 50% of patients are seropositive; the auto-antibody against N-methyl-D-aspartate receptor (NMDAR) are the most common. In the pediatric population, the clinical presentation is characterized by movement disorders and seizures, psychiatric manifestations are more commonly found in young adults. An early intervention is associated with a better prognosis in these patients. In contrast to the seropositive group, seronegative autoimmune encephalitis is linked with less movement alterations and is related with a worse cognitive outcome. Much remains to be discovered about possible etiologies, molecular processes, detection, and interaction of yet undescribed antibodies,as well as increasing our knowledge about clinical manifestations in early disease and new diagnostic techniques that could improve the diagnosis of autoimmune encephalitis. The main goal of this document is to review the updates of the molecular field about the antibody against GluK2 and its clinical presentation in pediatric population; COVID-19 as a possible cause of autoimmune encephalitis; recognize the importance of psychiatric manifestation in early disease, especially catatonia as a marker of severity; additionally consider new imaging diagnostic method such as positron emission tomography (PET), which has shown to be more sensible than MRI (goal standard).

La encefalitis autoinmune se puede definir como el proceso inflamatorio del sistema nervioso central, secundario a múltiples causas donde se consigue identificar o no, la creación de auto-anticuerpos contra receptores de neurotransmisores o proteínas de la superficie neuronal. Aproximadamente un 50% de pacientes son seropositivos, el anticuerpo contra el receptor N-metil-D-aspartato (NMDAR) es encontrado con mayor frecuencia. La presentación clínica característica en la población pediátrica es la alteración del movimiento, seguido por episodios convulsivos; en edades más avanzadas, priman las manifestaciones psiquiátricas. Muestra buen pronóstico si se impone un pronto tratamiento. En la encefalitis autoinmune seronegativa, se observa una menor alteración de movimiento, la cual, contrario al grupo seropositivo, se asocia con peor pronóstico cognitivo. Falta mucho por conocer sobre las posibles etiologías, procesos moleculares, la interacción y detección de anticuerpos aún no descritos,al igual que es necesario incrementar nuestro conocimiento sobre las manifestaciones clínicas en etapa temprana de la enfermedad e investigar propuestas que podrían mejorar el diagnóstico de la encefalitis autoinmune. El objetivo de este documento es revisar las actualizaciones en el ámbito molecular sobre el nuevo anticuerpo descrito (GluK2) y su presentación clínica en la población pediátrica; COVID-19 como posible causa del desarrollo de encefalitis autoinmune; reconocer la importancia de las manifestaciones psiquiátricas en etapa temprana, en especial la catatonia como marcador de gravedad, de igual manera, considerar nuevas propuestas para el diagnóstico de encefalitis autoinmune como: tomografía por emisión de positrones (PET), que ha mostrado mayor sensibilidad al detectar anomalías cerebrales que la RMN (estudio de elección).

[Pediatric therapeutic options in autoimmune neurologic diseases]. / Opciones terapéuticas para enfermedades neurológicas autoinmunes en pediatría.

The pediatric neuroimmunology field has made significant progress in the last decade. Now, is possible to recognize primary demyelinating diseases, paraneoplastic syndromes, inflammatory (vasculitis), and granulomatous disorders that affect the central nervous system; at the same time, it is important to exclude neurologic manifestations caused by infections, toxic agents, and metabolic problems. An early diagnosis is imperative to institute treatment as soon as possible, improving outcomes. Treatment may include both, specific drugs if the etiology has been established, as well as drugs to treat potential complications, for example anticonvulsants, anti-inflammatory drugs, transfusions, or albumin replenishment within others. The main objective of this review is to provide guidance about the therapeutic options in pediatric autoimmune neurological diseases. We review the evidence and recommendations for the use of steroids in autoimmune demyelinating diseases, acute disseminated encephalomyelitis, optic neuritis, neuromyelitis optica, multiple sclerosis, among others. We will focus on current therapies, including high doses of intravenous methylprednisolone, followed by its progressive reduction, as well as intravenous immunoglobulin or plasmapheresis as second line therapies. Early institution of these treatments can save the patient's life and decrease their risk of permanent disability.

El campo de la pediatría neuro-inmunológica ha progresado significativamente en la última década. Ahora es posible reconocer con prontitud enfermedades desmielinizantes primarias, síndromes para-neoplásicos, enfermedades inflamatorias, autoinmunes y granulomatosas, que afectan el sistema nervioso central. Excluir con gran rapidez posibles causas infecciosas, agentes tóxicos, problemas metabólicos que se presenten con manifestaciones neurológicas es imperativo, ya que al hacer un diagnóstico preciso y temprano del paciente se puede instituir un tratamiento lo más pronto posible e incrementar las probabilidades de éxito. El tratamiento puede ser dirigido a la etiología específica, si se conoce. Adicionalmente, es importante tratar las complicaciones relacionadas a la propia enfermedad o efectos secundarios de los tratamientos que se impongan. El tratamiento puede incluir tanto fármacos específicos si se ha establecido la etiología, así como medicamentos para tratar posibles complicaciones, por ejemplo, anticonvulsivos, antiinflamatorios, transfusiones, o reposición de albúmina dentro de otros. El objetivo principal de esta revisión es brindar una guía sobre las opciones terapéuticas en enfermedades neurológicas autoinmunes en fase aguda. Revisamos la evidencia y recomendaciones acerca del uso de esteroides en enfermedades autoinmunes desmielinizantes, encefalomielitis aguda diseminada, neuritis óptica, neuromielitis óptica, esclerosis múltiple, entre otras, donde altas dosis de metilprednisolona, seguida por su disminución progresiva son esenciales, así como el uso de inmunoglobulina humana intravenosa y plasmaféresis, como tratamiento de segunda línea. La institución temprana de estos tratamientos puede salvar la vida del paciente y disminuir su discapacidad permanente.

Autoimmune Encephalitis in Children: From Suspicion to Diagnosis.

There are several well-described and studied autoimmune diseases that affect different organ systems, and a limited number of these affect the central nervous system. Autoimmune encephalitis represents a disease with a wide spectrum of clinical manifestations and different levels of severity, from mild cognitive impairment to complex encephalopathy. Immune-mediated encephalitis refers to a diverse and rare group of conditions in children associated with nonspecific symptomatology, altered mental state, and recalcitrant seizures. Infectious etiology must be excluded. Immune-mediated encephalitis syndromes could be associated with paraneoplastic or primarily autoimmune mechanisms. The newest scientific advantages have concluded that autoimmune encephalitis may be further divided into different groups of diseases depending on the immune response; examples are antibodies to cell surface proteins, antibodies to intracellular synaptic proteins, T-cell response with antibodies to intracellular antigens, among others. Treatment consists of supportive therapy, ranging from supplemental oxygen, fluid restriction to mechanical circulatory support. Specific treatment includes immunoglobulin infusion, plasmapheresis, and pulse steroid treatment. Prognosis is poor if specific treatment is not timely instituted. The diagnosis of autoimmune encephalitis could be challenging to clinicians due to its diverse clinical features, which can mimic a variety of other pathologic processes. Screening for cancer and proper management that includes immune therapy are fundamental, although some patients will need immune suppression for weeks or months as autoimmune encephalitis may relapse; therefore, follow-up is always necessary.

A Novel Parent Questionnaire for the Detection of Seizures in Children of Spanish-Speaking Families.

BACKGROUND: We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was designed to study seizure prevalence in a research population of children at risk for epilepsy. METHODS: Spanish-speaking parents of children 6 months to 17 years old were recruited from the pediatric neurology clinics at Boston Medical Center and interviewed using a computerized questionnaire. A computerized algorithm of parent responses rendered a seizure classification of positive or negative. Blinded to questionnaire results, pediatric neurologists served as the diagnostic gold standard, ranking each patient event using a 4-level scale based on clinical history and examination: (1) not likely, (2) indeterminate, (3) probable, and (4) almost certain where rankings of 3 or 4 lead to a diagnosis of seizure. RESULTS: The questionnaire was completed by 163 enrolled parents. The seizure screen demonstrated a 94.2% sensitivity and 93.7% specificity for identifying seizures. The positive predictive value was 87.5%, and the negative predictive value was 97.2%. CONCLUSIONS: This pediatric seizure questionnaire was both sensitive and specific for detecting clinically confirmed seizures. This tool may be useful to clinicians and researchers in screening large populations of children, decreasing the time and cost of added neurologic assessments.

Childhood Infectious Encephalitis: An Overview of Clinical Features, Investigations, Treatment, and Recent Patents.

BACKGROUND: Infectious encephalitis is a serious and challenging condition to manage. This overview summarizes the current literature regarding the etiology, clinical manifestations, diagnosis, management, and recent patents of acute childhood infectious encephalitis. METHODS: We used PubMed Clinical Queries as a search engine and used keywords of "encephalitis" AND "childhood" Patents were searched using the key term "encephalitis" in google.patents.- com and patentsonline.com. RESULTS: Viral encephalitis is the most common cause of acute infectious encephalitis in children. In young children, the clinical manifestations can be non-specific. Provision of empiric antimicrobial therapy until a specific infectious organism has been identified, which in most cases includes acyclovir, is the cornerstone of therapy. Advanced investigation tools, including nucleic acid-based test panel and metagenomic next-generation sequencing, improve the diagnostic yield of identifying an infectious organism. Supportive therapy includes adequate airway and oxygenation, fluid and electrolyte balance, cerebral perfusion pressure support, and seizure control. Recent patents are related to the diagnosis, treatment, and prevention of acute infectious encephalitis. CONCLUSION: Viral encephalitis is the most common cause of acute infectious encephalitis in children and is associated with significant morbidity. Recent advances in understanding the genetic basis and immunological correlation of infectious encephalitis may improve treatment. Third-tier diagnostic tests may be incorporated into clinical practice. Treatment is targeted at the infectious process but remains mostly supportive. However, specific antimicrobial agents and vaccines development is ongoing.

Pineal Dysgerminoma: A Misleading Clinical Course With Potential Life-Threatening Consequences.

Pineal dysgerminomas are sporadic pediatric intracranial tumors that usually grow as midline lesions around the third ventricle, most frequently the pineal gland and the pituitary regions of the brain. The severity of symptoms is dependent on the location of the lesion and can present with increased intracranial symptoms. We report a 20-year-old man who presented with new-onset headaches over the past month that would wake him from his sleep at night. The headaches, however, resolved completely one week prior to his first neurological evaluation. A thorough neurological examination was normal. A careful review of the literature does not show a case of a pineal tumor presenting with spontaneous regression of intracranial pressure, and therefore we would like to raise awareness among clinicians about this potential course. A delay in obtaining imaging could have been life-threatening; thus, we recommend a high index of suspicion when patients present with recent symptoms suggesting increased intracranial pressure. Our patient had an excellent outcome two years after his presentation, with appropriate management including drainage of the cerebrospinal fluid, chemotherapy, and radiotherapy.

Prognosis of Concussion in Children.

Concussion in children is a common complaint in the emergency room, at the primary care physician's office and at the pediatric neurology clinic. The objective of this paper is to review the literature about prognostic factors that influence recovery from concussion. Also, we provide an overview of the duration of the symptoms, criteria to return to school and sports, and retirement of sports. It is important to remember that the factors provided could be used as a guide, but each case should be individualized and does not replace a detailed history-taking and physical examination.

Neonatal Encephalopathies: A Clinical Perspective.

Seizures are the most acute evident manifestation of central nervous system dysfunction in neonates. The incidence is higher in very low weight neonates, about 58/100 live births, as opposed to full-term infants, estimated about 3.5/100 live births. Neonatal seizures represent the clinical manifestation of a non-specific disorder of cortical cerebral dysfunction, which could lead to permanent brain injury. The etiology is multifactorial and requires a judicious assessment of each clinical scenario. The diagnosis and its management are further complicated as most neonatal seizures may have very subtle or no clinical changes and the diagnosis may be just based on EEG findings, so-called subclinical. The treatment is dependent on the etiology, but early and opportune intervention can prevent further brain damage and improve prognosis. Although early identification and treatment are essential, the diagnosis of neonatal seizures can be further complicated by the clinical presentations, possible etiologies, and treatments. Nevertheless, research studies and clinical evidence have shown that early treatment with anti-seizure medications can change the outcome.

Concussion: A Global Perspective.

Concussion, also referred to as mild traumatic brain injury (MTBI), is a common pediatric condition. This article reviews global perspectives on the epidemiology, treatment, and prognosis of concussion in children. A Pubmed search was conducted using Clinical Queries with the key terms "concussion" and "mild traumatic brain injury," and the search was limited to "children." The search strategy included meta-analyses, randomized controlled trials, clinical trials, and reviews. The majority of publications were from Canada and the United States. Prevalence estimates vary widely according to case definition and studied population. Due to under-reporting and to the widely varying definitions of concussion, it is difficult to estimate how common the condition is. Common causes of concussions include sports injuries, motor vehicle collisions, bicycle accidents, falls, and assaults. Diagnosis is mainly clinical. Because concussion results from a disturbance in brain function rather than structural injury, neuroimaging studies, such as computed tomography and magnetic resonance imaging, are not routinely recommended. Treatment generally involves physical and cognitive rest, with a gradual return to activities, whereas prolonged rest may actually worsen outcomes. Helmets when bicycling, skiing, snowboarding, motor biking, placing age limits on certain types of contact sports, and encouragement of fair play are recommended to decrease the impact of head injuries but they do not prevent concussions. Overall outcomes are generally favorable. The symptoms and signs of concussion usually resolve within 10 days; most patients recover in 48-72 hours. Global perspectives on management and prognosis are lacking. Concussions or MTBIs are common childhood injuries and the prognosis is good but information is predominantly from Canada and the USA. Research in other countries in particular low and middle income countries is vital to have a global perspective on MTBI.

[Predominant factors of neonatal encephalopathy: hypoxic and ischemia, a global problem]. / Factores predominantes de encefalopatía neonatal: hipoxia e isquemia, un problema global.

If a difficulty arises during birth, due to a maternal or fetal anomaly, acute or chronic, asphyxia of the fetal brain constitutes a greater risk, because it could result in the destruction of neurons and the possibility of evolving towards a Ischemic Hypoxic Encephalopathy with long -term sequelae. This review highlights the most recent scientific aspects but at the same time it offers an essential margin of knowledge regarding pathophysiology, diagnosis and treatment, as well as offering a perspective on the future of clinical care of ischemic hypoxic encephalopathy.

Si una dificultad sobreviene durante el nacimiento de un niño, por una anomalía materna o fetal, aguda o crónica, la asfixia del cerebro fetal constituye un riesgo mayor, porque ella podría dar como resultado la destrucción de las neuronas y la posibilidad de evolucionar hacia una encefalopatía hipóxico isquémica con secuelas a largo plazo. En esta revisión se resaltan los aspectos científicos más recientes pero a la vez se ofrece un margen de conocimiento imprescindible en cuant o a la patofisiología, diagnóstico y tratamiento, así como también se ofrece una perspectiva sobre el futuro de la atención clínica de la encefalopatía hipóxico isquémica.

[Sleep in children: physiology and update of a literature review]. / Sueño en los ninos: fisiología y actualizacion de los últimos conocimientos.

Sleep is an active and cyclic physiological process that has a critical impact on health. Its functions are numerous: growth, development, learning, memory, synaptic efficiency, regulation of behavior, emotion, immune strengthening and cleaning time of neurotoxic substances. During the first years of life, there are a number of important changes in development, which lead to the expected pattern of sleep and wakefulness in adults. The sleep occupies a third of the adult's life. However, sleeping during the first months of life takes up more than 50% of time. This review of the topic will describe normal sleep patterns in childhood.

El sueño es un proceso fisiológico activo y cíclico que tiene efectos críticos en la salud. Sus funciones son numerosas: crecimiento, desarrollo, aprendizaje, memoria, eficiencia sináptica, regulación del comportamiento, emoción, fortalecimiento inmunológico y tiempo de limpieza de sustancias neurotóxicas. Durante los primeros años de vida hay una serie de cambios importantes en el desarrollo que conducen al patrón esperado de sueño y vigilia en los adultos. El sueño ocupa un tercio de la vida del adulto. Sin embargo, dormir durante los primeros meses de vida ocupa más del 50% del tiempo. Esta revisión del tema describirá los patrones normales de sueño en la infancia.

Brain MRI in Children with Mild Traumatic Brain Injury and Persistent Symptoms in Both Sports- and Non-sports-related Concussion.

AIM: To evaluate the utility of magnetic resonance imaging (MRI) in children with mild traumatic brain injury (mTBI), persistent post-concussive syndrome (PPCS), and normal neurologic examination. MATERIALS AND METHODS: This was a retrospective review of pediatric patients, who were evaluated in a Pediatric Concussion Clinic between August 2013 and November 2018, with documented persistent post-concussive symptoms, normal neurological examination, and available brain MRI. RESULTS: In our analysis of 86 cases we found seven MRI studies with abnormal findings, but none were clinically significant. CONCLUSION: We conclude that MRI has a low diagnostic yield in this population, and based on these results we recommend that clinicians should avoid ordering MRI studies in this group. Further research is necessary to validate these results in larger and prospective studies.