Current Problems in Pediatric and Adolescent Health Care最新文献

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.

During the past quarter century, the diagnosis and treatment of cystic fibrosis (CF) have been transformed by molecular sciences that initiated a new era with discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The knowledge gained from that breakthrough has had dramatic clinical impact. Although once a diagnostic dilemma with long delays, preventable deaths, and irreversible pathology, CF can now be routinely diagnosed shortly after birth through newborn screening programs. This strategy of pre-symptomatic identification has eliminated the common diagnostic “odyssey” that was a failure of the healthcare delivery system causing psychologically traumatic experiences for parents. Therapeutic advances of many kinds have culminated in CFTR modulator treatment that can reduce the effects of or even correct the molecular defect in the chloride channel —the basic cause of CF. This astonishing advance has transformed CF care as described fully herein. Despite this impressive progress, there are challenges and controversies in the delivery of care. Issues include how best to achieve high sensitivity newborn screening with acceptable specificity; what course of action is appropriate for children who are identified through the unavoidable incidental findings of screening tests (CFSPID/CRMS cases and heterozygote carriers); how best to ensure genetic counseling; when to initiate the very expensive but life-saving CFTR modulator drugs; how to identify new CFTR modulator drugs for patients with non-responsive CFTR variants; how to adjust other therapeutic modalities; and how to best partner with primary care clinicians. Progress always brings new challenges, and this has been evident worldwide for CF. Consequently, this article summarizes the major advances of recent years along with controversies and describes their implications with an international perspective.