Current Problems in Pediatric and Adolescent Health Care最新文献

Competency-based medical education (CBME) is a patient-centered and learner-focused approach to education where curricula are delivered in a manner tailored to the individuals’ learning needs, and assessment focuses on ensuring trainees achieve requisite and clearly specified learning outcomes. Despite calls to focus assessment on what matters for patients. In this article, the authors explore one aspect of this next era: the use of electronic health record clinical performance indicators, such as Resident-Sensitive Quality Measures (RSQMs) and TRainee Attributable and Automatable Care Evaluations in Real-time (TRACERs), for learner assessment. They elaborate on both the promise and the potential limitations of using such measures in a program of learner assessment.

Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and SYNGAP1 disorders. Here we review the known clinical features of these disorders, highlight the biological role of STXBP1 and SYNGAP1, and discuss our current understanding of pathogenic mechanisms and therapeutic development. Finally, we provide our perspective as scientists and parents of children with NDDs, and comment on the current challenges for both clinical and basic science endeavors.

In the last several decades, advances in genetic testing have transformed the diagnostic and therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests often requires expert analysis and counseling. For this reason, as our molecular understanding of the linkages between abnormal cerebral physiology and genetics has grown, so too has the field of clinical epilepsy genetics. Here we explore recent advances in genetic testing, describe the benefits of genetic testing in epilepsy, and provide a practice guideline for testing and referrals to specialized epilepsy genetics centers, highlighting the Epilepsy NeuroGenetics Initiative (ENGIN) Clinic and the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at the Children's Hospital of Philadelphia as an illustration of such a specialized center.

The insights gained from big data and omics approaches have transformed the field of childhood genetic epilepsy. With an increasing number of individuals receiving genetic testing for seizures, we are provided with an opportunity to identify clinically relevant subgroups and extract meaningful observations from this large-scale clinical data. However, the volume of data from electronic medical records and omics (e.g., genomics, transcriptomics) is so vast that standardized methods, such as the Human Phenotype Ontology, are necessary for reliable and comprehensive characterization. Here, we explore the integration of clinical and omics data, highlighting how these approaches pave the way for discovery in childhood epilepsies.

Epilepsy is one of the most common neurological problems affecting 470,000 children in the United States. While most youth will achieve seizure freedom using medication, up to a third will continue to have seizures and are therefore considered to have drug-resistant epilepsy (DRE). Children and adolescents with epilepsy are at higher risk of behavioral, cognitive, and emotional disorders. Youth with DRE are at even greater risk of behavioral and emotional problems impacting quality of life and may need to pursue surgical interventions, including resective surgery or device implantation. Due to advances in the evaluation of candidates and surgical options, epilepsy surgery is more effective and has become second-line treatment for youth with DRE. This paper highlights the importance of exploring, assessing, and treating psychological and neuropsychological factors throughout the three phases of the epilepsy surgery process and ways pediatricians can support youth and families.

While recent technological advancements are reshaping the landscape of surgical epilepsy management, the established techniques of resective and disconnective surgeries guided by electrographic monitoring remain the workhorse interventions for the management of refractory seizures and have the highest likelihood of achieving complete seizure resolution. Here we discuss examples of recent developments in surgical approaches and techniques for resective and disconnective surgeries with discussion of their indications and potential advantages.

Surgical intervention for epilepsy emerged in the second half of the 20th century as an important option for pediatric patients with medically refractory epilepsy. Both the number of patients undergoing epilepsy surgery and the available surgical procedures for epilepsy have expanded in the last 3 decades, and now range from surgical resection to neuromodulatory device placement^1,2 Studies showing that many patients who would be excellent candidates for surgery are still not being offered appropriate interventions have prompted an interest in ensuring that all providers who see patients with epilepsy are aware of the options for epilepsy surgery to facilitate earlier referrals when medications have not been effective³ In this article, we will introduce the pediatrician to the process involved in determining epilepsy surgery candidacy and to surgical outcomes, with the goal of empowering pediatric providers to refer their medically refractory epilepsy patients to a pediatric epilepsy center.