Models of Transition Zupanc, Mary L
Seminars in pediatric neurology,
December 2020, 2020-Dec, 2020-12-00, 20201201, Volume:
36
Journal Article
Peer reviewed
Without a structure to address healthcare transition, adolescents and young adults with neurological disorders are likely to have disruptions in their care that result in a higher need for emergency ...care and hospitalization. There are numerous obstacles to implementing the existing transition guidelines: adequate numbers of skilled and willing adult providers, patient and family anxiety about transfer, changes in health insurance, inadequate reimbursement, and inefficient communication systems to pave the path for a smooth transition. The aim of this article is to provide practical information about developing a transition program, as well as a potential clinical model for transitioning care.
Summary
Although the epilepsy and neurology communities have position papers on a number of topics pertaining to epilepsy diagnosis and management, no current paper exists for the rationale and ...appropriate indications for epilepsy monitoring unit (EMU) evaluation. General neurologists, hospital administrators, and insurers also have yet to fully understand the role this type of testing has in the diagnosis and management of individuals with paroxysmal neurologic symptoms. This review outlines the indications for long‐term video‐electroencephalography (VEEG) for typical elective admissions to a specialized inpatient setting. The common techniques used in EMUs to obtain diagnostic information are reviewed. The added benefit of safety measures and clinical testing above that available for routine or long‐term ambulatory electroencephalography is also discussed. The indications for admission to the EMU include differential diagnosis of paroxysmal spells, characterization of seizure types, presurgical epilepsy evaluations, seizure quantification, monitoring medication adjustment in a safe setting, and differentiation between seizures and side effects. We conclude that the appropriate use of this specialized testing can lead to an early and correct diagnosis in a variety of clinical circumstances. The EMU evaluation is considered the gold standard test for the definitive diagnosis of epilepsy and seizure‐like spells.
Abstract Background Refractory status epilepticus carries a high risk of morbidity and mortality for children. Traditional treatment of status epilepticus consists of multiple anticonvulsant drugs ...and, if needed, induction of a medical coma. The ketogenic diet has been used for intractable epilepsy for many years. The purpose of this article is to report a case series of five patients with refractory status epilepticus successfully managed with the ketogenic diet. Methods A summary of pediatric patients with refractory status epilepticus treated with diet was performed. Conclusions Ketogenic diet therapy should be considered as a treatment option in pediatric patients with refractory status epilepticus.
Abstract Background Tuberous sclerosis complex is a genetic disease usually caused by mutations to either TSC1 or TSC2 , where its gene products are involved in the inhibition of the mammalian target ...of rapamycin pathway. Under normal cellular conditions, mammalian target of rapamycin (mTOR) regulates cell growth and proliferation in response to signals from nutrients or growth factors, but loss of TSC1 or TSC2 leads to overactivation of mTOR and uncontrolled cellular proliferation. Everolimus is an mTOR inhibitor approved for use in a number of indications where mTOR overactivation is implicated, including tuberous sclerosis complex. Methods and patients We conducted a literature search of PubMed to identify published articles about the long-term efficacy and safety of everolimus in patients with tuberous sclerosis complex. Results The short-term efficacy and safety of everolimus in patients with tuberous sclerosis complex has been demonstrated in placebo-controlled trials, and open-label extension studies are ongoing to monitor long-term effects, including safety. Examples of regrowth following discontinuation of mTOR inhibitors suggest that everolimus needs to be given indefinitely to maintain suppression of subependymal giant cell astrocytoma and other tuberous sclerosis complex–associated disease manifestations. No additional safety concerns have been reported to date with long-term administration of everolimus, but published long-term data (>1 year treatment) are currently limited to a small open-label trial and case reports for this relatively rare condition. Conclusions From the limited data available, long-term administration of everolimus appears feasible with few safety concerns beyond those associated with short-term use. Further investigation is needed to determine the long-term efficacy and safety of everolimus in patients with tuberous sclerosis complex.
In September 2017, the Child Neurology Society (CNS) convened a special task force to review the practice of child neurology in the United States. This was deemed a necessity by our membership, as ...our colleagues expressed discouragement and burnout by the increase in workload without additional resources; reliance on work relative value units (wRVUs) as the sole basis of compensation; a push by administrators for providers to see more patients with less allotted time; and lack of administrative, educational, and research support. The CNS Task Force designed and distributed a survey to multiple academic divisions of various sizes, as well as to private practices. Our findings were strikingly similar across different practices, demonstrating high workloads, lack of resources, poor electronic medical record support, and high provider symptoms of fatigue and burnout. From the results, the CNS Task Force has concluded that wRVUs cannot be the sole basis of compensation for child neurology. We have also made several specific recommendations for alleviating the current situation, including innovative ways to fund child neurology as well as ways to enhance job satisfaction.
The developing brain is particularly susceptible to seizures. Diffuse central nervous system pathology or injury in early infancy, when the brain is most vulnerable, may lead to catastrophic ...epilepsies such as Ohtahara's epileptic encephalopathy and early myoclonic epileptic encephalopathy. These epileptic encephalopathies are difficult to treat and have poor prognoses. As the brain undergoes programmed synaptogenesis, apoptosis, and myelination, the epilepsy phenotypes and electroencephalography (EEG) findings change, producing age-dependent epileptic encephalopathies. Specifically, as they grow older, 40% to 60% of infants with infantile spasms and a concomitant hypsarrhythmia on EEG will develop Lennox-Gastaut syndrome with tonic and atonic seizures, associated with a synchronous, generalized 1.5- to 2-Hz spike and slow wave discharges on EEG. In the context of age-dependent epileptic encephalopathies, as an epilepsy syndrome is evolving, it is often difficult to accurately diagnose the specific epilepsy syndrome in a young child who presents with seizures. It is the clinical evolution of the seizure types and the EEG that helps the clinician make an accurate diagnosis. As more is known about the underlying pathophysiology for the various epilepsy syndromes, not only the clinical picture and EEG but also a genetic blood test will be used to accurately diagnose a specific epilepsy syndrome. A case in point would be severe myoclonic epilepsy of infancy (classically known as Dravet syndrome) and severe myoclonic epilepsy of infancy-borderland/ borderline, which are associated with specific mutations in the sodium ion channel gene SCN1A.
Children with epilepsy are at risk for a variety of neurocognitive comorbidities. Animal models have increased our understanding about the neurobiological mechanisms underlying the association ...between seizures and these comorbidities. 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. Finally, we offer a potential guideline to the treatment and management of children with epilepsy and its neurocognitive comorbidities.
Introduction
Therapeutic hypothermia for the treatment of moderate to severe neonatal hypoxic ischemic encephalopathy has been shown to reduce death and disability, but the effects on seizures after ...discharge from the Neonatal ICU are not known.
Methods
A retrospective cohort study was conducted involving 56 neonates admitted to the Neonatal ICU at Children’s Hospital of Orange County, CA from January 1, 2007 to September 1, 2013 with hypoxic ischemic encephalopathy who met criteria for selective brain cooling. Fifteen patients received supportive care. Forty-one patients received cooling, of whom 25 were included for analysis. Sixteen patients from the hypothermia group and 12 from the no hypothermia group developed clinical seizures while inpatient. Up to 6 months, four patients (16%) had continued seizures in the therapeutic hypothermia group compared to eight (53%) patients who did not receive hypothermia.
Discussion
Our study shows an association between therapeutic hypothermia and reduced seizures after discharge from the neonatal intensive care unit. The short duration of follow-up, 6 months, is a limitation of this study. Another limitation is its observational nature, where reasons for treatment selection and exclusions are unmeasurable confounding factors. Further studies are needed to determine long-term effects.
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