Publications by authors named "Robyn Howarth"

The neural crest generates numerous cell types, but conflicting results leave developmental origins unresolved. Here using somatic mosaic variants as cellular barcodes, we infer embryonic clonal dynamics of trunk neural crest, focusing on the sensory and sympathetic ganglia. From three independent adult neurotypical human donors, we identified 1,278 mosaic variants using deep whole-genome sequencing, then profiled allelic fractions in 187 anatomically dissected ganglia.

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Background: Autoimmune encephalitis (AE) can present as first-episode psychosis (FEP) in children. An FEP diagnostic algorithm has been proposed, but how this algorithm applies to children is unknown. We assess the FEP diagnostic algorithm in children with FEP.

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Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited.

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Article Synopsis
  • Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
  • The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
  • Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.
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Streptomycin (Sm) is a commonly used antibiotic for its efficacy against diverse bacteria. The plant pathogen is a model for studying pathogenesis and interkingdom gene transfer. Streptomycin-resistant variants of are commonly employed in genetic analyses, yet mechanisms of resistance and susceptibility to streptomycin in this organism have not previously been investigated.

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Background And Objectives: Comprehensive guidelines for the diagnosis, prognosis, and treatment of disorders of consciousness (DoC) in pediatric patients have not yet been released. We aimed to summarize available evidence for DoC with >14 days duration to support the future development of guidelines for children, adolescents and young adults aged 6 months-18 years.

Methods: This scoping review was reported based on Preferred Reporting Items for Systematic reviews and Meta-Analyses-extension for Scoping Reviews guidelines.

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  • A study was conducted to evaluate sleep problems in children diagnosed with NMDA receptor encephalitis, revealing that 95% experienced sleep dysfunction at onset.
  • At the one-year mark, 34% continued to report sleep issues, indicating a significant persistence of sleep problems over time.
  • Notably, while sleep issues at onset and the use of propofol did not relate to poor outcomes, poor sleep at one year did correlate with unfavorable modified Rankin Scores, suggesting the need for further research on sleep and long-term outcomes in these patients.
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Viral encephalitis and autoimmune encephalitis are currently the most common causes of encephalitis. Determining the causative agent is helpful in initiating medical treatment that may help reduce long-term sequelae. Cerebrospinal fluid, neuroimaging, serologic, and electroencephalogram in combination with clinical manifestations play a role in determining the cause of the encephalitis.

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Objectives: Anti-NMDA receptor autoimmune encephalitis (NMDARE) is a common pediatric encephalitis, resulting in neuropsychiatric symptoms. Predicting severity and course is challenging, with objective cognitive assessments lacking in NMDARE, especially in children. The CASE (Clinical Assessment Scale in Autoimmune Encephalitis) measures severity in autoimmune encephalitis.

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The genetic and molecular basis of flagellar motility has been investigated for several decades, with innovative research strategies propelling advances at a steady pace. Furthermore, as the phenomenon is examined in diverse bacteria, new taxon-specific regulatory and structural features are being elucidated. Motility is also a straightforward bacterial phenotype that can allow undergraduate researchers to explore the palette of molecular genetic tools available to microbiologists.

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Background The neutrophil-to-lymphocyte ratio (NLR) may predict poor outcomes in adult anti-NMDAR encephalitis (NMDARE). The association of NLR with outcomes in pediatric NMDARE was examined. Methods Pediatric NMDARE patients (N = 36) were retrospectively studied.

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Neuropsychologists working in a pediatric neurorehabilitation setting provide care for children and adolescents with acquired brain injuries (ABI) and play a vital role on the interdisciplinary treatment team. This role draws on influences from the field of clinical neuropsychology and its pediatric subspecialty, as well as rehabilitation psychology. This combination of specialties is uniquely suited for working with ABI across the continuum of recovery.

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Background: Electrographic characteristics (extreme delta brush, posterior dominant rhythm and slow waves) may predict outcomes in anti-NMDA receptor encephalitis (NMDARE). However, whether changes in EEG sleep architecture predict outcomes are unknown. We examine electrophysiological characteristics including sleep architecture in a pediatric NMDARE population and correlate with outcomes at one year.

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Anti-N-methyl-d-aspartate receptor encephalitis (ANMDARE) is a neurologic disorder that is becoming more recognized in children and adolescents. Early studies suggested that patients typically recover well, but more recent data suggests that children may experience persistent cognitive deficits, especially in verbal memory and executive functioning. The aims of this study are to evaluate areas of impairment and to characterize neuropsychological outcomes in pediatric patients with ANMDARE.

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Emerging research has demonstrated that anti-myelin oligodendrocyte associated disorders (MOG-AD) are associated with a less severe clinical course than demyelinating conditions associated with the presence of aquaporin-4 antibodies. While a heterogeneity of neuropsychological outcomes in pediatric demyelinating conditions have been described in the literature, no studies to date have investigated the neuropsychological sequelae of pediatric MOG-AD specifically. The objective of the present case series was to describe the clinical and neuropsychological phenotypes of seven pediatric patients (ages 3-15 years) with MOG-AD of different diagnoses (e.

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Article Synopsis
  • The study reviews the immunotherapy and medication treatments given to pediatric patients with N-methyl-D-aspartate receptor encephalitis (NMDARE) during their inpatient rehabilitation, focusing on various clinical and demographic factors linked to early recovery outcomes.
  • Of the 26 pediatric patients analyzed, all received first-line immunotherapies, and many also received second-line treatments, with an average of 8 medications prescribed for managing symptoms like agitation, psychiatric issues, and seizures.
  • Results showed that while 65% of patients improved in functional outcomes, a significant number (35%) had limited or no improvement, particularly indicating that younger patients and those receiving treatment for seizures and movement disorders faced worse outcomes.
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To describe the challenges related to COVID-19 affecting pediatric neuropsychologists practicing in inpatient brain injury rehabilitation settings, and offer solutions focused on face-to-face care and telehealth. A group of pediatric neuropsychologists from 12 pediatric rehabilitation units in North America and 2 in South America have met regularly since COVID-19 stay-at-home orders were initiated in many parts of the world. This group discussed challenges to clinical care and collaboratively problem-solvedsolutions.

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Background: Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in affected children needs further study.

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Objective: Traumatic brain injury (TBI) is the leading cause of morbidity and mortality in children and adolescents. This study examines the early cognitive-linguistic recovery of pediatric patients who sustained TBI and required inpatient rehabilitation and investigates the contribution of various demographic, clinical, and preinjury factors to recovery.

Methods: A retrospective chart review of children and adolescents, ages 3-20 years, admitted to an inpatient rehabilitation unit.

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Objective: The aims of the current study were to characterize the demographic and clinical presentation of pediatric patients diagnosed with anti-N-methyl-D-aspartate receptor encephalitis who require inpatient rehabilitation, to examine early functional outcomes, and to investigate predictors of early recovery.

Design: A retrospective chart review was conducted for 27 pediatric patients diagnosed with anti-N-methyl-D-aspartate receptor encephalitis who received intensive inpatient neurorehabilitation.

Results: On average, patients were 10.

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Cognitive regression is a well-described presentation of vein of Galen aneurysmal malformations (VGAMs) in childhood. However, it remains unclear whether successful treatment of the malformation can reverse cognitive regression. Here, the authors present the case of a 5-year-old girl with a VGAM that was treated with staged endovascular embolization procedures.

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Background: Survivors of childhood brain tumors are at increased risk for neurocognitive impairments, including deficits in abilities supported by frontal brain regions. Catechol-O-methyltransferase (COMT) metabolizes dopamine in the prefrontal cortex, with the Met allele resulting in greater dopamine availability and better performance on frontally mediated tasks compared to the Val allele. Given the importance of identifying resiliency factors against the emergence of cognitive late effects, the current study examined the relationship between COMT genotype and working memory performance among childhood brain tumor survivors.

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Diffuse intrinsic pontine glioma (DIPG) is the deadliest central nervous system tumor in children. The survival of affected children has remained poor despite treatment with radiation therapy (RT) with or without chemotherapy. We reviewed the medical records of all surviving patients with DIPG treated at our institution between October 1, 1992 and May 31, 2011.

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Childhood brain tumor survivors are at increased risk for neurocognitive impairments, including working memory (WM) problems. WM is typically assessed using performance measures. Little is known about the value of parent ratings for identifying WM difficulties, the relationship between rater and performance measures, or predictors of parent-reported WM problems in this population.

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