Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.

Feasibility and Challenges with Measuring Adverse Childhood Experiences in the Pediatric Intensive Care Unit.

Purpose: The Adverse Childhood Experiences (ACEs) screening tool captures some experiences of childhood adversity, ranging from abuse to parental separation. Research has shown a correlation between ACEs and both adult and childhood disease. This study evaluated the feasibility of conducting ACE screening in the pediatric intensive care unit (PICU) and investigated associations with markers for severity of illness and utilization of resources. Methods: This was a cross sectional study screening for ACEs among children admitted to a single quaternary medical-surgical PICU. Children age 0-18 years old admitted to the PICU over a one-year period were considered for enrollment. A 10-question ACE screen was used to evaluate children for exposure to ACEs. Chart review was used to collect demographic and clinical data. Results: Of the 432 parents approached for enrollment, 400 (92.6%) agreed to participate. Most parents reported an ACE score of zero (68.9%) while 31% of participants experienced at least 1 ACE, of whom 14.8% experienced ≥ 2 ACEs. There was not a statistically significant association between ACE score and length of stay (p-value = 0.26) or level of respiratory support in patients with asthma (p-value = 0.15) or bronchiolitis (p-value = 0.83). The primary reasons for not approaching families were parent availability, non-English speaking parents, and social work concerns. Conclusions: This study demonstrates feasibility to collect sensitive psychosocial data in the PICU and highlights challenges to enrollment. Supplementary Information: The online version contains supplementary material available at 10.1007/s40653-023-00555-9.