The Role of Child Neurologists in the Management of Motor Disability in Cerebral Palsy: Establishing the Path Forward.

Background: Cerebral palsy (CP) is the most common motor disability of childhood, and yet the role of child neurologists and neurodevelopmentalists (CN/NDDs) in the management of children with CP is unclear. Although previous surveys showed that CN/NDDs believe they are uniquely expert in CP motor phenotyping and should be involved in CP management, others have demonstrated that training in CP management among CN/NDD residency programs is inadequate.

Methods: In this article, we surveyed a group of CN/NDDs at the Child Neurology Society Cerebral Palsy Special Interest Group meeting on January 27, 2022.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

The Integrator complex is a multi-subunit protein complex that regulates the processing of nascent RNAs transcribed by RNA polymerase II (RNAPII), including small nuclear RNAs, enhancer RNAs, telomeric RNAs, viral RNAs, and protein-coding mRNAs. Integrator subunit 11 (INTS11) is the catalytic subunit that cleaves nascent RNAs, but, to date, mutations in this subunit have not been linked to human disease. Here, we describe 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 who present with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy.

Studies of CP Prevalence: Disparities in Authorship, Citations, and Geographic Location.

We aimed to characterize the existing knowledge of cerebral palsy (CP) prevalence globally and identify any existing publication disparities that may impact our understanding of the global burden of CP. To identify existing publications on CP prevalence, PubMed and Web of Science were searched in May 2021 with the following strategy: "cerebral palsy"[title] AND (rate OR prevalence OR epidemiology). This search yielded 2720 results on PubMed and 2314 on Web of Science.

A single-center descriptive account of the use of pectoral nerve I and II nerve blocks for post-operative pain relief following pediatric sternotomy.

Regional anesthesia between the pectoralis major and minor was first described in 2011 as an alternative method to paravertebral blocks or epidurals for post-operative mastectomies. Since then, the use of pectoral nerve (PECS) blocks for post-operative pain management following thoracotomy, sternotomy, and other procedures in the anterior thorax has increased. While experience with this block is growing, the current understanding of its use in pediatric patients is limited.

Anticoagulation-Free Pediatric Extracorporeal Membrane Oxygenation: Single-Center Retrospective Study.

Objectives: To analyze hemorrhage and thrombosis data related to anticoagulation-free pediatric extracorporeal membrane oxygenation (ECMO).

Design: Retrospective cohort study.

Settings: High-volume ECMO single institution data.

Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is linked to heterozygous mutations in the (Forkhead Box F1) gene, a key transcriptional regulator of pulmonary vascular development. There are no effective treatments for ACDMPV other than lung transplant, and new pharmacological agents activating FOXF1 signaling are urgently needed. Identify-small molecule compounds that stimulate FOXF1 signaling.

Incorporating economic analysis in interventional cardiology research.

Evaluative research in interventional cardiology has focused on clinical and technical outcomes. Inclusion of economic data can enhance evaluative research by quantifying the relative economic burden incurred by different therapies. When combined with clinical outcomes, cost data can provide a measure of value (e.

The IPTA Nashville consensus conference on post-transplant lymphoproliferative disorders after solid organ transplantation in children: I-Methodology for the development of consensus practice guidelines.

The International Pediatric Transplant Association (IPTA) Consensus Conference on Practice Guidelines for the Diagnosis, Prevention, and Management of Post-Transplant Lymphoproliferative Disorders after Solid Organ Transplantation in Children took place on March 12-13, 2019, and the work of conference members continued until the end of December 2021. The goal was to produce evidence-based consensus guidelines on the definitions, diagnosis, prevention, and management of PTLD and related disorders based on the critical review of the literature and consensus of experts. This report describes the goals, organization, and methodology of the consensus conference and follow-up activities.

Acute kidney injury requiring kidney replacement therapy in childhood lupus nephritis: a cohort study of the Pediatric Nephrology Research Consortium and Childhood Arthritis and Rheumatology Research Alliance.

Background: Acute kidney injury (AKI) is common in lupus nephritis (LN) and a risk factor for development of chronic kidney disease. In adults with LN, AKI severity correlates with the incidence of kidney failure and patient survival. Data on AKI outcomes in children with LN, particularly those requiring kidney replacement therapy (KRT), are limited.

The maternal prenatal and offspring early-life gut microbiome of childhood asthma phenotypes.

Background: The infant fecal microbiome is known to impact subsequent asthma risk, but the environmental exposures impacting this association, the role of the maternal microbiome, and how the microbiome impacts different childhood asthma phenotypes are unknown.

Methods: Our objective was to identify associations between features of the prenatal and early-life fecal microbiomes and child asthma phenotypes. We analyzed fecal 16 s rRNA microbiome profiling and fecal metabolomic profiling from stool samples collected from mothers during the third trimester of pregnancy (n = 120) and offspring at ages 3-6 months (n = 265), 1 (n = 436) and 3 years (n = 506) in a total of 657 mother-child pairs participating in the Vitamin D Antenatal Asthma Reduction Trial.

Improving child health through Big Data and data science.

Child health is defined by a complex, dynamic network of genetic, cultural, nutritional, infectious, and environmental determinants at distinct, developmentally determined epochs from preconception to adolescence. This network shapes the future of children, susceptibilities to adult diseases, and individual child health outcomes. Evolution selects characteristics during fetal life, infancy, childhood, and adolescence that adapt to predictable and unpredictable exposures/stresses by creating alternative developmental phenotype trajectories.

Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.

Purpose: To report long-term ophthalmic findings in Wolfram syndrome, including rates of visual decline, macular thinning, retinal nerve fiber layer (RNFL) thinning, and outer plexiform layer (OPL) lamination.

Design: Single-center, cohort study.

Methods: A total of 38 participants were studied, who underwent a complete ophthalmic examination as well as optical coherence tomography imaging of the macula and nerve on an annual basis.

Associations Between Weight and Lower Respiratory Tract Disease Outcomes in Hospitalized Children.

Objective: To identify associations between weight status and clinical outcomes in children with lower respiratory tract infection (LRTI) or asthma requiring hospitalization.

Methods: We performed a retrospective cohort study of 2 to 17 year old children hospitalized for LRTI and/or asthma from 2009 to 2019 using electronic health record data from the PEDSnet clinical research network. Children <2 years, those with medical complexity, and those without a calculable BMI were excluded.

Hepatic abnormalities in youth with Turner syndrome.

Background & Aims: Liver disease in children with Turner Syndrome (TS) is poorly understood relative to associated growth, cardiac and reproductive complications. This study sought to better characterize hepatic abnormalities in a large national cohort of youth with TS.

Methods: Using electronic health record data from PEDSnet institutions, 2145 females with TS were matched to 8580 females without TS on eight demographic variables.

Identifying the essential knowledge and skills for Neonatal-Perinatal Medicine: a systematic analysis of practice.

The knowledge and skills expected for board certification in Neonatal-Perinatal Medicine (NPM) should reflect the clinical practice of neonatology. First, a 14-member panel of practicing neonatologists, convened by the American Board of Pediatrics (ABP), drafted a practice analysis document which identified the practice domains, tasks, knowledge, and skills deemed essential for clinical practice. NPM fellowship program directors provided feedback via online survey resulting in revisions to the document.

Top 10 Research Themes for Dystonia in Cerebral Palsy: A Community-Driven Research Agenda.

Dystonia in cerebral palsy (DCP) is a common, debilitating, but understudied condition. The CP community (people with CP and caregivers) is uniquely equipped to help determine the research questions that best address their needs. We developed a community-driven DCP research agenda using the well-established James Lind Alliance methodology.

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from biallelic pathogenic variants in over 20 genes that encode key proteins required for the assembly or primary ciliary functions of the BBSome, a heterooctameric protein complex critical for homeostasis of primary cilia. While variants in BBS1 are most frequently identified in affected individuals, the renal and pulmonary phenotypes associated with BBS1 variants are reportedly less severe than those seen in affected individuals with pathogenic variants in the other BBS-associated genes.

Single-Dose Intrathecal Dorsal Root Ganglia Toxicity of Onasemnogene Abeparvovec in Cynomolgus Monkeys.

Intravenous onasemnogene abeparvovec is approved for the treatment of spinal muscular atrophy in children < 2 years. For later-onset patients, intrathecal onasemnogene abeparvovec may be advantageous over intravenous administration. Recently, microscopic dorsal root ganglion (DRG) changes were observed in nonhuman primates (NHPs) following intrathecal onasemnogene abeparvovec administration.

The scope of treatment of pediatric IgA vasculitis nephritis and its outcome: a Pediatric Nephrology Research Consortium study.

Background: IgA vasculitis (IgAV) is the most common type of vasculitis in children. There is a lack of consensus for management of significant IgAV nephritis (IgAVN). This study was designed to identify the most used treatment options and describe their efficacy.

Association of the gut microbiome and metabolome with wheeze frequency in childhood asthma.

Background: While the microbiome has an established role in asthma development, less is known about its contribution to morbidity in children with asthma.

Objective: In this ancillary study of the Vitamin D Antenatal Asthma Reduction Trial (VDAART), we analyzed the gut microbiome and metabolome of wheeze frequency in children with asthma.

Methods: Bacterial 16S ribosomal RNA microbiome and untargeted metabolomic profiling were performed on fecal samples collected from 3-year-old children with parent-reported physician-diagnosed asthma.