Pediatric Constraint-Induced Movement Therapy: Current Practices and Implementation Barriers.

Hemiplegic Cerebral Palsy (CP) is the most common pediatric motor disability, characterized by unilateral motor weakness. Pediatric Constraint-Induced Movement Therapy (pCIMT) improves affected extremity function but faces variable clinical integration. This study assessed U.

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

Importance: Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective: To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data Sources: Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed.

Preterm birth is associated with dystonic features and reduced cortical parvalbumin immunoreactivity in mice.

Background: Preterm birth is a common cause of dystonia. Though dystonia is often associated with striatal dysfunction after neonatal brain injury, cortical dysfunction may best predict dystonia following preterm birth. Furthermore, abnormal sensorimotor cortex inhibition is associated with genetic and idiopathic dystonias.

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.

Standardized clinical data capture to describe cerebral palsy.

Objective: To describe a standardized methodology for capturing clinically valuable information on young people with cerebral palsy (CP) from caregivers and clinicians during routine clinical care.

Methods: We developed a caregiver-facing intake form and clinician-facing standardized note template and integrated both into routine clinical care at a tertiary care CP center ( https://bit.ly/CP-Intake-Methodology ).

Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.

Increasingly long and complex informed consents have yielded studies demonstrating comparatively low participant and with traditional face-to-face approaches. In parallel, interest in electronic consents for clinical and research genomics has steadily increased, yet limited data are available for trio-based genomic discovery studies. We describe the design, development, implementation, and validation of an electronic iConsent application for trio-based genomic research deployed to support genomic studies of cerebral palsy.

Sensory Symptoms Across the Lifespan in People With Cerebral Palsy.

Background: To estimate the prevalence of sensory symptoms in people with cerebral palsy (CP) across the lifespan.

Methods: In this cross-sectional study, the self-reported Sensory Processing Scale Inventory (SPS-I) was administered via Research Electronic Data Capture (REDCap) between February 1, 2022, and August 15, 2022, to people with CP or their caregivers enrolled in the online MyCP Community Registry. We determined the association between SPS-I scores and age (Pearson correlation) and functional status as assessed using five validated functional classification systems for CP (analysis of variance [ANOVA]).

Human chorionic gonadotropin decreases cerebral cystic encephalomalacia and parvalbumin interneuron degeneration in a pro-inflammatory model of mouse neonatal hypoxia-ischemia.

The pregnancy hormone, human chorionic gonadotropin (hCG) is an immunoregulatory and neurotrophic glycoprotein of potential clinical utility in the neonate at risk for cerebral injury. Despite its well-known role in its ability to modulate the innate immune response during pregnancy, hCG has not been demonstrated to affect the pro-degenerative actions of inflammation in neonatal hypoxia-ischemia (HI). Here we utilize a neonatal mouse model of mild HI combined with intraperitoneal administration of lipopolysaccharide (LPS) to evaluate the neuroprotective actions of hCG in the setting of endotoxin-mediated systemic inflammation.

Under-recognition of leg dystonia in people with cerebral palsy.

Objective: To determine the rates of clinical under-documentation of leg dystonia in people with cerebral palsy (CP).

Methods: In this prospective cohort study, we identified independently ambulatory people age 10-20yo with CP-associated spasticity seen in a tertiary care CP center between 1/1/20 to 11/4/21. Three pediatric movement disorders specialists assessed gait videos from these visits for leg dystonia using the Global Dystonia Rating Scale.

Mice born preterm develop gait dystonia and reduced cortical parvalbumin immunoreactivity.

Preterm birth leading to cerebral palsy (CP) is the most common cause of childhood dystonia, a movement disorder that is debilitating and often treatment refractory. Dystonia has been typically associated with dysfunction of striatal cholinergic interneurons, but clinical imaging data suggests that cortical injury may best predict dystonia following preterm birth. Furthermore, abnormal sensorimotor cortex inhibition has been found in many studies of non-CP dystonias.

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.

Caregiver descriptions of dystonia in cerebral palsy.

Objective: To determine how caregivers describe dystonia in people with cerebral palsy (CP).

Methods: In this prospective cohort study, paper surveys were administered to caregivers between September 7, 2021 and October 28, 2021 during CP Center visits at a large tertiary care center. Caregivers were asked to describe involuntary movements triggered by voluntary movement or triggered by tactile stimulation in the people with CP they cared for.

Current Practices in the Evaluation of Global Developmental Delay/Intellectual Disability: A Nationwide Survey of Child Neurologists.

Background And Objectives: Global developmental delay/intellectual disability (GDD/ID) are among the most common neurologic conditions evaluated by child neurologists in the United States. No recent neurology-specific guidelines for GDD/ID diagnostic evaluation exist, which could lead to practice variability. We assessed current practices in GDD/ID diagnostic evaluation among US child neurologists, including drivers of exome sequencing (ES).

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.

Upper Extremity Dystonia Features in People With Spastic Cerebral Palsy.

Background And Objectives: Dystonia in cerebral palsy (CP) is debilitating and common, but underdiagnosed, especially when coexistent with spasticity. With dedicated research-based assessment, dystonia is found in most people with spastic CP but is only clinically diagnosed in the minority. To begin addressing the high rates of dystonia underdiagnosis in this population, we determined the key feature experts use to assess upper extremity dystonia in people with spastic CP.

Clinical actionability of genetic findings in cerebral palsy.

Background And Objectives: Single gene mutations are increasingly recognized as causes of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for measuring their clinical impact. We evaluated Pathogenic/Likely Pathogenic (P/LP) variants identified in individuals with CP to determine how frequently genetic testing results would prompt changes in care.

Methods: We analyzed published P/LP variants in OMIM genes identified in clinical (n = 1,345 individuals) or research (n = 496) cohorts using exome sequencing of CP patients.

Brain Region Size Differences Associated With Dystonia in People With Cerebral Palsy Born Premature.

Background: Dystonia in cerebral palsy (CP) is classically associated with deep gray matter injury at term gestation, but the patterns of injury associated with dystonia following premature birth are unclear. We examined whether there were brain regional size differences associated with dystonia in people with CP born premature.

Methods: In this retrospective cohort study, we identified subjects with CP born premature (<37 weeks gestational age) seen at a tertiary care CP center between February 1, 2017, to February 1, 2021, who had T1-weighted brain magnetic resonance imaging (MRI) done between ages one and five years available in the clinical record.

Uncertainties regarding cerebral palsy diagnosis: opportunities to operationalize the consensus definition.

Background And Objectives: Cerebral palsy (CP), the most common motor disability of childhood, is variably diagnosed. We hypothesized that child neurologists and neurodevelopmentalists, often on the frontlines of CP diagnosis in North America, harbor uncertainties regarding the practical application of the most recent CP consensus definition from 2006.

Methods: We conducted a cross-sectional survey of child neurologists and neurodevelopmentalists at the 2022 Child Neurology Society Annual Meeting.

Spared nerve injury causes motor phenotypes unrelated to pain in mice.

Most animal models of neuropathic pain use targeted nerve injuries quantified with motor reflexive measures in response to an applied noxious stimulus. These motor reflexive measures can only accurately represent a pain response if motor function in also intact. The commonly used spared nerve injury (SNI) model, however, damages the tibial and common peroneal nerves that should result in motor phenotypes (i.

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.