With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine adenine repeat in chromosome 9. In this review, we summarize the clinical features, routine management, pathophysiology, and emerging therapies for this devastating disease. The recent approval of omaveloxolone makes recognition of Friedreich ataxia and its treatment essential for all pediatric neurologists.

To evaluate the efficacy and safety of intravenous zoledronic acid (ZA) in improving bone mineral density (BMD) and reducing bone turnover in boys with Duchenne muscular dystrophy (DMD) from North India.

Independent evaluation of overnight polysomnography and autonomic function in primary monosymptomatic nocturnal enuresis (PMNE) have produced variable results. The objective of this study was to simultaneously evaluate both to improve pathophysiological understanding with consequent therapeutic implications.

Epilepsy in the Child-Bearing Ages through Menopause is an international consortium of clinicians dedicated to improving the health of women with epilepsy across the lifespan. Epilepsy in the Child-Bearing Ages through Menopause's Adolescent and Young Adult Committee addresses quality of care for female youth with epilepsy. The Committee developed a literature review and expert opinion guidance for child neurologists on performing optimal counseling about epilepsy and reproductive health for female youth with epilepsy. To do so, we identified and voted on key topics essential for this counseling, then conducted comprehensive literature reviews for each topic, iteratively developed key statements about counseling content and style for each topic and voted on final content for inclusion. The included topics were teratogenesis, folic acid supplementation, pregnancy and fertility, contraception, heritability of epilepsy, menstrual and hormonal disorders, catamenial epilepsy, and taking a sexual history. This review provides a clear, novel framework for pediatric neurologists to counsel adolescent and young adult women with epilepsy about their reproductive health, supporting improvement in practices recommended by professional organization such as the American Academy of Neurology and Child Neurology Foundation.

Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune condition which can be diagnosed either based on a constellation of neurological symptoms and/or a positive anti-aquaporin 4 antibody. About 3-5% of all cases occur in pediatric patients, and currently there are no FDA-approved therapies for patients under the age of 18 years for NMOSD. There are currently 4 FDA-approved medications for adults with seropositive NMOSD-eculizumab, inebilizumab, satralizumab, and ravulizumab.

Sleep disorders are a common issue in children with pediatric insomnia, an under-recognized and undertreated problem affecting children. Beyond melatonin and behavioral interventions, there are few options known to clinicians that have been studied for use in pediatric insomnia. The objective of this study is to assess the efficacy, tolerability, and safety of doxepin and mirtazapine in pediatric insomnia.

Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalography (EEG) and magnetic resonance imaging (MRI) can be used to precisely assess brain function and structure in preterm infants. This systematic review assessed the prognostic capacity of EEG and MRI alone, and in combination, for the prediction of neurodevelopmental outcomes in preterm-born infants.

To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age.

Twenty five percent of children who sustain a mild traumatic brain injury (mTBI) or concussion experience persisting post-concussion symptoms (PPCS). The symptoms of PPCS significantly overlap with postural orthostatic tachycardia syndrome (POTS). We aimed to review the literature and investigate the prevalence of POTS in children and adolescents recovering from mTBI.

The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA.

To identify predictors of drug-resistant epilepsy (DRE) in children with a history of perinatal ischemic stroke (PIS).

To assess variability in postoperative blood pressure management and its association with stroke incidence in pediatric Moyamoya disease (MMD) patients undergoing surgical revascularization.

While cognitive processing and brain volume assessments are commonly used in multiple sclerosis (MS) research, they are not routinely incorporated into clinical care. Advances in neuroimaging software now allow for brain volume measurement to be incorporated into standard practice and guide clinical decision-making.

The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).

New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the "gold standard" for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.

Drug-resistant epilepsy (DRE) in the pediatric population is a challenging disease, with limited surgical interventions available. We report the preliminary outcomes for pediatric patients with multifocal DRE epilepsy treated with centromedian responsive neurostimulation.

Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated arterial ischemic stroke (AIS) is scarce. This study aimed to describe the clinical characteristics, laboratory and neuroimaging data on pediatric MPP-associated AIS.

There has been remarkable progress made in the understanding of Rett syndrome, with only 57 years between the description of a phenotype and its first FDA-approved treatment. In this review, we will discuss this history and the genetics of Rett syndrome and examine the clinical features of the condition, with particular attention to the progression of symptoms over time. Genotype-phenotype correlations will be reviewed. Clinical management strategies, including specific symptom management and disease modifying therapy, will be discussed. The review will end with a brief discussion of current and future research directions.