Prognostic Factors Associated With Increased Mortality in Pediatric Veno-Occlusive Disease Following Hematopoietic Cell Transplantation.

Background: Hepatic veno-occlusive disease (VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) and is categorized as a transplant-related, systemic endothelial disease. Severe VOD can lead to multi-organ dysfunction (MOF) and is associated with a high mortality rate.

Objective: To evaluate the incidence of VOD in children after HCT and analyze the outcomes and risk factors associated with increased mortality.

Assessing the Reliability of the Bleeding Assessment Scale in Critically Ill Children (BASIC) Definition: A Prospective Cohort Study.

Objectives: To determine the reliability of the Bleeding Assessment Scale in critically Ill Children (BASIC) definition of bleeding severity in a diverse cohort of critically ill children.

Design: Prospective cohort study.

Setting: Eight mixed PICUs in the Netherlands, Israel, and the United States.

Parental Representations and Emotional Availability: The Case of Children with Autism and Severe Behavior Problems.

Studies suggest that parents' emotional availability (EA) is associated with children's wellbeing, including in the case of children with autism. Our study extended prior research by examining the role of parents' representations in fostering parental EA and by focusing on fathers and on children with autism and severe behavior problems. We expected that parents' positive representations would be associated with higher EA and compared mothers' and fathers' representations and EA.

Cannabinoid treatment for the symptoms of autism spectrum disorder.

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting approximately 3% of school-age children. The core symptoms are deficits in social communication and restricted and repetitive patterns of behavior. Associated problems in cognition, language, behavior, sleep and mood are prevalent.

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.

Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs).

The NO Answer for Autism Spectrum Disorder.

Autism spectrum disorders (ASDs) include a wide range of neurodevelopmental disorders. Several reports showed that mutations in different high-risk ASD genes lead to ASD. However, the underlying molecular mechanisms have not been deciphered.

Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.

Early diagnosis of autism spectrum disorder (ASD) is crucial for providing appropriate treatments and parental guidance from an early age. Yet, ASD diagnosis is a lengthy process, in part due to the lack of reliable biomarkers. We recently applied RNA-sequencing of peripheral blood samples from 73 American and Israeli children with ASD and 26 neurotypically developing (NT) children to identify 10 genes with dysregulated blood expression levels in children with ASD.

Risk-Taking Behaviors in Children with ADHD Compared to Children with Primary Headaches.

The study examined the engagement in risk-taking behaviors and their onset in children with attention-deficit/hyperactivity disorder (ADHD) compared with children with primary headaches. Whether ADHD is associated with higher engagement in risk-taking behavior compared with other neurodevelopmental disorders (and not only typical development) has yet to be demonstrated. A sample of 189 children, 10 to 18 years old, undergoing neurological surveillance for ADHD ( = 144) or primary headaches ( = 45) participated in the study.

Improving pediatric idiopathic intracranial hypertension care: a retrospective cohort study.

To describe the clinical course and prognosis of pediatric idiopathic intracranial hypertension (IIH) and examine the preferred management setting. IIH is characterized by increased intracranial pressure and is often associated with headaches and visual complaints. IIH is a preventable cause of vision loss in children.

Blood RNA Sequencing Indicates Upregulated and and Downregulated and Expression in Children with Autism Spectrum Disorder.

Mutations in over 100 genes are implicated in autism spectrum disorder (ASD). DNA SNPs, CNVs, and epigenomic modifications also contribute to ASD. Transcriptomics analysis of blood samples may offer clues for pathways dysregulated in ASD.

A Placebo-Controlled Trial of Cannabinoid Treatment for Disruptive Behavior in Children and Adolescents with Autism Spectrum Disorder: Effects on Sleep Parameters as Measured by the CSHQ.

Autism spectrum disorder (ASD) is often associated with debilitating sleep disturbances. While anecdotal evidence suggests the positive effect of cannabinoids, randomized studies are lacking. Here, we report the effects of cannabinoid treatment on the sleep of 150 children and adolescents with ASD, as part of a double-blind, placebo-controlled study that assessed the impact of cannabinoid treatment on behavior (NCT02956226).

Successful Outcome in an Adolescent with Artery of Percheron Occlusion who was Treated with Tissue Plasminogen Activator.

Background: Ischemic stroke is relatively rare in children, leading to a low level of suspicion and delayed diagnosis, particularly in cases of posterior circulation occlusion when symptoms are less indicative. Occlusion of the artery of Percheron (AOP) results in nonspecific neurologic symptoms, including drowsiness, aphasia or dysarthria, ophthalmoplegia, ataxia, and dysmetria. Previous reports, mainly in adults, described late diagnosis and severe residual disability.

Change Blindness in Adolescents With Attention-Deficit/Hyperactivity Disorder: Use of Eye-Tracking.

Objective: This study investigated change detection of central or marginal interest in images using a change-blindness paradigm with eye tracking.

Method: Eighty-four drug-naïve adolescents [44 with attention-deficit/hyperactivity disorder (ADHD)/40 controls with typical development] searched for a change in 36 pairs of original and modified images, with an item of central or marginal interest present or absent, presented in rapid alternation. Collected data were detection rate, response time, and gaze fixation duration, latency, and dispersion data.

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.

Objective: To determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP).

Methods: Trio WES of patients with prior CMA analysis for cryptogenic CP, defined as disabling, non-progressive motor symptoms beginning before the age of 3 years without known cause.

Results: Given both CMA analysis and trio WES, clinically significant genetic findings were identified for 58% of patients (26 of 45).

Bleeding in Critically Ill Children-Review of Literature, Knowledge Gaps, and Suggestions for Future Investigation.

Clinically significant bleeding complicates up to 20% of admissions to the intensive care unit in adults and is associated with severe physiologic derangements, requirement for significant interventions and worse outcome. There is a paucity of published data on bleeding in critically ill children. In this manuscript, we will provide an overview of the epidemiology and characteristics of bleeding in critically ill children, address the association between bleeding and clinical outcomes, describe the current definitions of bleeding and their respective limitations, and finally provide an overview of current knowledge gaps and suggested areas for future research.

Cannabinoid treatment for autism: a proof-of-concept randomized trial.

Background: Endocannabinoid dysfunction in animal models of autism spectrum disorder (ASD) and accumulating, albeit anecdotal, evidence for efficacy in humans motivated this placebo-controlled double-blind comparison of two oral cannabinoid solutions in 150 participants (age 5-21 years) with ASD.

Methods: We tested (1) BOL-DP-O-01-W, a whole-plant cannabis extract containing cannabidiol and Δ9-tetrahydrocannabinol at a 20:1 ratio and (2) BOL-DP-O-01, purified cannabidiol and Δ9-tetrahydrocannabinol at the same ratio. Participants (N = 150) received either placebo or cannabinoids for 12-weeks (testing efficacy) followed by a 4-week washout and predetermined cross-over for another 12 weeks to further assess tolerability.

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies of yeast arv1 null mutants indicate that it is involved in a number of biochemical processes including the synthesis of sphingolipids and glycosylphosphatidylinositol (GPI), a glycolipid anchor that is attached to the C-termini of many membrane bound proteins.

Medical Cannabis in Children.

The use of medical cannabis in children is rapidly growing. While robust evidence currently exists only for pure cannabidiol (CBD) to treat specific types of refractory epilepsy, in most cases, artisanal strains of CBD-rich medical cannabis are being used to treat children with various types of refractory epilepsy or irritability associated with autism spectrum disorder (ASD). Other common pediatric disorders that are being considered for cannabis treatment are Tourette syndrome and spasticity.

Emerging pharmacological therapies in fragile X syndrome and autism.

Purpose Of Review: Research on the pathophysiology of syndromic autism spectrum disorder (ASD) has contributed to the uncovering of mechanisms in nonsyndromic ASD. The current review aims to compare recent progress in therapeutics development for ASD with those for fragile X syndrome (FXS), the most frequent monogenic form of ASD.

Recent Findings: Although candidates such as oxytocin, vasopressin, and cannabinoids are being tested as novel therapeutics, it remains difficult to focus on a specific molecular target of drug development for ASD core symptoms.

Lower circulating endocannabinoid levels in children with autism spectrum disorder.

Background: The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations of the ECS have been demonstrated in several animal models of autism spectrum disorder (ASD). In some of these models, activating the ECS rescued the social deficits.

Auditory stimulation improves motor function and caretaker burden in children with cerebral palsy- A randomized double blind study.

Aim: To investigate the impact of auditory stimulation on motor function in children with cerebral palsy (CP) and disabling hypertonia.

Method: 9 matched pairs (age: 7y5m, SD 4y1m; 13 boys; gross-motor-functional-classification-scale: median 4; manual-ability-classification-system: median 4) were randomized to receive either auditory stimulation embedded in music (study, n = 9) or music alone (sham, control, n = 9) for at least 10 minutes 4 times a week for 4 weeks. Goal-Attainment-Scale, Care-and-Comfort-Hypertonicity-Questionnaire, Gross-Motor-Function-Measure and Quality-of-Upper-Extremity-Skills-Test (QUEST) were assessed before and 5 months following intervention.

Brief Report: Cannabidiol-Rich Cannabis in Children with Autism Spectrum Disorder and Severe Behavioral Problems-A Retrospective Feasibility Study.

Anecdotal evidence of successful cannabis treatment in autism spectrum disorder (ASD) are accumulating but clinical studies are lacking. This retrospective study assessed tolerability and efficacy of cannabidiol-rich cannabis, in 60 children with ASD and severe behavioral problems (age = 11.8 ± 3.