Training the Next Generation of Pediatric Clinical Pharmacologists: Insights and Trainee Perspectives Over 10 Years.

The limited number of researchers with expertise necessary toaddress treatment gaps for children presents an ongoing challenge. The NationalInstitutes of Health established a national Pediatric Clinical Pharmacology T32Training Program in 2012 to train a multidisciplinary, collaborative pediatricclinical pharmacology workforce. We surveyed all current T32 trainees andgraduates since inception to identify strengths and opportunities to enhanceworkforce development.

Multi-center improvement in screening for dystonia in young people with cerebral palsy.

Background And Objectives: Dystonia is a common, debilitating, and often treatment refractory motor symptom of cerebral palsy (CP), affecting 70-80% of this population based on research assessments. However, routine clinical evaluation for dystonia in CP has failed to match these expected numbers. Addressing this diagnostic gap is a medical imperative because the presence of dystonia rules in or out certain treatments for motor symptoms in CP.

Network localization of pediatric lesion-induced dystonia.

Objective: Dystonia is a movement disorder defined by involuntary muscle contractions leading to abnormal postures or twisting and repetitive movements. Classically dystonia has been thought of as a disorder of the basal ganglia, but newer results in idiopathic dystonia and lesion-induced dystonia in adults point to broader motor network dysfunction spanning the basal ganglia, cerebellum, premotor cortex, sensorimotor, and frontoparietal regions. It is unclear whether a similar network is shared between different etiologies of pediatric lesion-induced dystonia.

Physician Approaches to the Pharmacologic Treatment of Dystonia in Cerebral Palsy.

Objective: To determine how physicians approach pharmacologic dystonia treatment in people with CP and assess physician readiness to participate in a randomized trial comparing existing pharmacologic dystonia treatments.

Methods: We administered a REDCap survey to physician members of the American Academy of Cerebral Palsy and Developmental Medicine and of the Child Neurology Society to assess which pharmacologic agents they use to treat dystonia in CP and their preferred indications and dosing.

Results: Of 479 physicians surveyed, 240 (50%) responded.

SIGnature Libraries: A roadmap for the formation of special interest group libraries.

Objective: "SIGnature Libraries" channel the dynamism of academic society-based special interest groups (SIG) to systematically identify and provide user-oriented access to essential literature for a subspecialty field in a manner that keeps pace with the field's continuing evolution. The libraries include literature beyond clinical trial data to encompass historical context, diagnostic conceptualization, and community organization materials to foster a holistic understanding of how neurologic conditions affect individuals, their community, and their lived experience.

Methods: Utilizing a modified-Delphi approach, Child Neurology Society's Cerebral Palsy (CP) SIG ( = 75) administered two rounds of literature submissions and ratings.

Predictive and diagnostic measures for kernicterus spectrum disorder: a prospective cohort study.

Background: Kernicterus spectrum disorder (KSD) resulting from neonatal hyperbilirubinemia remains a common cause of cerebral palsy worldwide. This 12-month prospective cohort study followed neonates with hyperbilirubinemia to determine which clinical measures best predict KSD.

Methods: The study enrolled neonates ≥35 weeks gestation with total serum bilirubin (TSB) ≥ 20 mg/dl admitted to Aminu Kano Hospital, Nigeria.

Identifying Effective Treatments for Dystonia in Patients With Cerebral Palsy: A Precision Therapeutics Approach.

Recent focus on improving the recognition of dystonia in cerebral palsy (DCP) has highlighted the need for more effective treatments. Evidence supports improved functional outcomes with early interventions for patients with cerebral palsy, but it is not known which interventions are most effective for DCP. Current pharmacologic recommendations for DCP are based largely on anecdotal evidence, with medications demonstrating minimal to moderate improvements in dystonia and variable efficacy between patients.

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.

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm.

Deep brain stimulation (DBS) is an established intervention for use in pediatric movement disorders, especially dystonia. Although multiple publications have provided guidelines for deep brain stimulation patient selection and programming in adults, there are no evidence-based or consensus statements published for pediatrics. The result is lack of standardized care and underutilization of this effective treatment.

Missed Opportunities and the Impact of the Pandemic.

Benjamin is a 9-month-old, former 36-week gestation infant who presented to the high-risk infant follow-up clinic with parental concern for developmental regression. His mother reported that Benjamin seemed to be developing typically, but over the past 2 months, he has lost the ability to visually track objects, is not as engaged with her as he once was, and now only rarely makes babbling sounds. His mother also reported episodes of intermittent "bursts" of stiffening of his extremities and brief staring spells.

Cerebral Palsy in Child Neurology and Neurodevelopmental Disabilities Training: An Unmet Need.

Background: Cerebral palsy (CP) is the most common cause of childhood motor disability. However, there is limited guidance on training of child neurologists and neurodevelopmental disability specialists in the care of individuals with cerebral palsy. We sought to determine training program directors' impressions of the importance and adequacy of training in the diagnosis and management of cerebral palsy.

Kernicterus Spectrum Disorders Diagnostic Toolkit: validation using retrospective chart review.

Background: Kernicterus Spectrum Disorders (KSDs) result from hyperbilirubinemia-induced brain injury. We developed a Toolkit (KSD-TK) to predict the likelihood of KSDs. This study aims to validate the KSD-TK by comparing it to clinical diagnoses made by the Kernicterus Clinic in the Division of Neurology.

Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder.

Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the third case of DBS for CS-associated movement disorder and the first in which both proposed targets had devices implanted, allowing for direct comparison. A case of DBS for CS-associated movement disorder is presented.

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Background: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.

Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of (), which is known to be involved in neuronal migration and retrograde axonal transport.

Cognitive and behavioral outcomes in benign childhood epilepsy with centrotemporal spikes.

We review the evidence that BECTS may be associated with cognitive dysfunction and behavioral problems, the extent to which these problems may be associated with patterns of EEG abnormalities in BECTS, and the impact of antiepileptic medication on cognition and behavior in BECTS. A growing literature examining cognitive and behavioral outcomes suggests that children with BECTS perform below the level of their peers. Consistent with this, neuroimaging studies reveal that BECTS has an impact on structural and functional brain development, but the potential influence of frequency and lateralization of centrotemporal spikes (CTS) on cognition and behavior is not well understood.

Targeting ASIC1 in primary progressive multiple sclerosis: evidence of neuroprotection with amiloride.

Neurodegeneration is the main cause for permanent disability in multiple sclerosis. The effect of current immunomodulatory treatments on neurodegeneration is insufficient. Therefore, direct neuroprotection and myeloprotection remain an important therapeutic goal.

The effect of hypointense white matter lesions on automated gray matter segmentation in multiple sclerosis.

Previous imaging studies assessing the relationship between white matter (WM) damage and matter (GM) atrophy have raised the concern that Multiple Sclerosis (MS) WM lesions may affect measures of GM volume by inducing voxel misclassification during intensity-based tissue segmentation. Here, we quantified this misclassification error in simulated and real MS brains using a lesion-filling method. Using this method, we also corrected GM measures in patients before comparing them with controls in order to assess the impact of this lesion-induced misclassification error in clinical studies.