Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome-wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human phenotype ontology terms used in genomic analysis were aggregated and analyzed.

Autism Spectrum Disorder and Medical Cannabis: Review and Clinical Experience.

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associated noncore behavioral disturbance (ie, self-injury, aggression), as well as several medical comorbidities. Currently, no effective treatment exists for the core symptoms of ASD.

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.

Objective: Use next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting.

Design: A diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore Undiagnosed Disease Program. Date of last analysis was 1 July 2019.

Neonatal Abstinence Syndrome Severity Index Predicts 18-Month Neurodevelopmental Outcome in Neonates Randomized to Morphine or Methadone.

Objective: To develop an index to determine which opioid-exposed neonates have the most severe neonatal abstinence syndrome (NAS).

Study Design: Full-term neonates with NAS (n = 116) from mothers maintained on methadone or buprenorphine were enrolled from 8 sites into a randomized clinical trial of morphine vs methadone. Ninety-nine (85%) were evaluated at hospital discharge using the NICU Network Neurobehavioral Scale (NNNS).

Association of Social Media Use and High-Risk Behaviors in Adolescents: Cross-Sectional Study.

Background: Previous studies have demonstrated the prevalence of social media use and identified the presence of high-risk behaviors among adolescents, including self-harm and sharing of sexually explicit messages.

Objective: This study aimed to identify patterns in the amount of time spent on social media by adolescents who engage in high-risk behavior and the extent to which they use social media as a platform for sharing such behaviors.

Methods: This was a descriptive cross-sectional study of 179 adolescents seen in a pediatric clinic at an urban medical center.

Association of a Simplified Finnegan Neonatal Abstinence Scoring Tool With the Need for Pharmacologic Treatment for Neonatal Abstinence Syndrome.

Importance: Observer-rated scales, such as the Finnegan Neonatal Abstinence Scoring Tool (FNAST), are used to quantify the severity of neonatal abstinence syndrome (NAS) and guide pharmacologic therapy. The FNAST, a comprehensive 21-item assessment tool, was developed for research and subsequently integrated into clinical practice; a simpler tool, designed to account for clinically meaningful outcomes, is urgently needed to standardize assessment.

Objectives: To identify FNAST items independently associated with the decision to use pharmacologic therapy and to simplify the FNAST while minimizing loss of information for the treatment decision.

Neurodevelopmental Outcomes of Neonates Randomized to Morphine or Methadone for Treatment of Neonatal Abstinence Syndrome.

Objective: To evaluate the effects of pharmacologic treatment of neonatal abstinence syndrome on neurodevelopmental outcome from a randomized, controlled trial.

Study Design: Eight sites enrolled 116 full-term newborn infants with neonatal abstinence syndrome born to mothers maintained on methadone or buprenorphine into a randomized trial of morphine vs methadone. Ninety-nine infants (85%) were evaluated at hospital discharge using the NICU Network Neurobehavioral Scale.

How to introduce MSC-based therapy for the developing lung safely into clinical care?

Extreme prematurity is associated with an increased risk to develop bronchopulmonary dysplasia (BPD). Severe BPD is associated with a significant long-term burden for the affected infant, families and society. Currently there are limited prevention and treatment options.

Early Lifestyle Intervention for Obesity Prevention in Pediatric Survivors of Acute Lymphoblastic Leukemia.

Patients with pediatric acute lymphoblastic leukemia (ALL) experience rapid weight gain during treatment and increases in weight are maintained throughout treatment and beyond. Without prompt interventions, altered dietary and physical activity behaviors may become difficult to reverse, contributing to obesity risk long-term. Fifteen children, aged 3-9 years, diagnosed with pediatric ALL who were on maintenance therapy or within two years of treatment completion (mean BMI percentile: 70.

Quality and Safety of Pediatric Inpatient Care in Community Hospitals: A Scoping Review.

Background: Although the majority of children are hospitalized in nonchildren's hospitals, little is known about the quality and safety of pediatric care in community hospitals.

Objective: The aim of this study was to conduct a scoping review and synthesize literature on the quality and safety of pediatric inpatient care in United States community hospitals.

Methods: We performed a systematic literature search in October 2016 to identify pediatric studies that reported on safety, effectiveness, efficiency, timeliness, patient-centeredness, or equity set in general, nonuniversity, or nonchildren's hospitals.

Comparative effectiveness of opioid replacement agents for neonatal opioid withdrawal syndrome: a systematic review and meta-analysis.

Objective(s): To compare short-term treatment outcomes of opioid pharmacotherapy for neonatal opioid withdrawal syndrome (NOWS).

Study Design: PubMed/MEDLINE, Embase, PsycINFO, and The Cochrane Library were searched from inception through September 30, 2018. Primary outcome was treatment duration (LOT).

Alternative approach to pediatric cardiac quality assessment for low-volume centers.

Background: In pediatric cardiac care, many centers participate in multiple, national, domain-specific registries, as a major component of their quality assessment and improvement efforts. Small cardiac programs, whose clinical activities and scale may not be well-suited to this approach, need alternative methods to assess and track quality.

Methods: We conceived of and piloted a rapid-approach cardiac quality assessment, intended to encompass multiple aspects of the service line, in a low-volume program.

The role of recombinant human CC10 in the prevention of chronic pulmonary insufficiency of prematurity.

Background: Preterm neonates can develop chronic pulmonary insufficiency of prematurity (CPIP) later in infancy. Recombinant human CC10 protein (rhCC10) is an anti-inflammatory agent that could potentially prevent CPIP.

Methods: The safety and efficacy of a single intratracheal dose of rhCC10 in reducing CPIP at 12 months corrected gestational age (CGA) was evaluated in a Phase II double-blind, randomized, placebo-controlled, multisite clinical trial.

Impact of Regulatory Incentive Programs on the Future of Pediatric Drug Development.

Surveys evaluating industry experience with performing pediatric studies under the Best Pharmaceutical for Children Act (BPCA) and Pediatric Research Equity Act (PREA) regulatory regime were conducted by Tufts Center for the Study of Drug Development (Tufts CSDD) in 2000, 2006, and 2016. These survey results are being used to assess the future impact of regulatory incentive programs on generating pediatric specific labeling information and development of age-appropriate drug formulations. A second perspective will be provided through the experience and expertise of neonatal/pediatric clinicians and researchers with a focus on the urgent need for the study of new and existing drugs in this vulnerable population (especially with 90% of drugs in neonates still being used off-label).

Effect of Sustained Inflations vs Intermittent Positive Pressure Ventilation on Bronchopulmonary Dysplasia or Death Among Extremely Preterm Infants: The SAIL Randomized Clinical Trial.

Importance: Preterm infants must establish regular respirations at delivery. Sustained inflations may establish lung volume faster than short inflations.

Objective: To determine whether a ventilation strategy including sustained inflations, compared with standard intermittent positive pressure ventilation, reduces bronchopulmonary dysplasia (BPD) or death at 36 weeks' postmenstrual age without harm in extremely preterm infants.