Treatable Movement Disorders of Infancy and Early Childhood

Dystonia in cerebral palsy (DCP) is a common, debilitating, but under-studied 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. CP community members, researchers, and clinicians were recruited via multiple advocacy, research, and professional organizations. To ensure shared baseline knowledge, participants watched webinars outlining our current knowledge on DCP prepared by a Steering Group of field experts ( cprn.org/research-cp-dystonia-edition). Participants next submitted their remaining uncertainties about DCP. These were vetted by the Steering Group and consolidated to eliminate redundancy to generate a list of unique uncertainties which were then prioritized by the participants. The top prioritized uncertainties were aggregated into themes via iterative consensus-building discussions within the Steering Group. 166 webinar viewers generated 67 unique uncertainties. 29 uncertainties (17 generated by community members) were prioritized higher than their randomly matched pairs. These were coalesced into the following Top 10 DCP Research Themes:1) Develop new treatments;2) Assess rehabilitation, psychological, and environmental management approaches;3) Compare effectiveness of current treatments;4) Improve diagnosis and severity assessments;5) Assess the impact of mixed tone (spasticity and dystonia) in outcomes and approaches;6) Assess predictors of treatment responsiveness;7) Determine pathophysiologic mechanisms;8) Describe the natural history;9) Develop dystonia pain treatments;10) Increase family awareness.This community-driven research agenda reflects the concerns most important to the community, both in perception and in practice. We therefore encourage future DCP research to center around these themes. Furthermore, noting that community members (not clinicians or researchers) generated the majority of top-prioritized uncertainties, our results highlight the important contributions community members can make to research agendas, even beyond DCP.

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“…33 The etiology of dystonia may also be important in determining how an individual with DCP responds to treatment. 34…”

Section: Discussionmentioning

confidence: 99%

Top 10 Research Themes for Dystonia in Cerebral Palsy

et al. 2022

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“…10 Many of these cerebral palsy mimic diagnoses may be treatable, with many of these treatments requiring early institution to prevent permanent brain injury. 17 Early differentiation between spasticity and dystonia is critical to guiding this diagnostic workup.…”

Section: Discussionmentioning

confidence: 99%

“…Even though early identification of spasticity and dystonia is critical, we hypothesized that spasticity and dystonia are likely underidentified in young children at risk for cerebral palsy. Because all children with cerebral palsy identified as having hypertonia should have spasticity and/or dystonia, 3,17 we determined how often a hypertonia diagnosis was provided without specification of the type of tone in young children at risk for cerebral palsy. We then determined which patient factors made a practitioner more likely to identify spasticity or dystonia (as opposed to just unspecified hypertonia) in a child at risk for cerebral palsy.…”

Section: Introductionmentioning

confidence: 99%

Spasticity and Dystonia are Underidentified in Young Children at High Risk for Cerebral Palsy

2021

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Background Early spasticity and dystonia identification in cerebral palsy is critical for guiding diagnostic workup and prompting targeted treatment early when it is most efficacious. However, differentiating spasticity from dystonia is difficult in young children with cerebral palsy. Methods We sought to determine spasticity and dystonia underidentification rates in children at high risk for cerebral palsy (following neonatal hypoxic-ischemic encephalopathy) by assessing how often child neurologists identified hypertonia alone versus specifying the hypertonia type as spasticity and/or dystonia by age 5 years. Results Of 168 children, 63 developed cerebral palsy and hypertonia but only 19 (30%) had their hypertonia type specified as spasticity and/or dystonia by age 5 years. Conclusions Child neurologists did not specify the type of hypertonia in a majority of children at high risk of cerebral palsy. Because early tone identification critically guides diagnostic workup and treatment of cerebral palsy, these results highlight an important gap in current cerebral palsy care.

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Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy

et al. 2020

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ObjectiveTo contextualize the role of child neurologists and neurodevelopmentalists (CN/NDDs) in cerebral palsy (CP) care, we review the changing landscape of CP diagnosis and survey stakeholder CN/NDDs regarding their roles in CP care.MethodsThe optimal roles of the multiple specialties involved in CP care are currently unclear, particularly regarding CP diagnosis. We developed recommendations regarding the role of CN/NDDs noting: (1) increasing complexity of CP diagnosis given a growing number of genetic etiologies and treatable motor disorders that can be misdiagnosed as CP, and (2) the views of a group of physician stakeholders (CN/NDDs from the Child Neurology Society Cerebral Palsy Special Interest Group).ResultsCN/NDDs felt that they were optimally suited to diagnose CP. Many (76%) felt CN/NDDs should always be involved in CP diagnosis. However, 42% said their CP patients were typically not diagnosed by CN/NDDs and 18% did not receive referrals to establish the diagnosis of CP at all. CN/NDDs identified areas of their expertise critical for CP diagnosis including knowledge of the neurologic exam across development and early identification of features atypical for CP. This contrasts with their views on CP management, where CN/NDDs felt they could contribute to the medical team, but were necessary primarily when neurologic co-existing conditions were present.DiscussionGiven its increasing complexity, we recommend early referral for CP diagnosis to a CN/NDD or specialist with comparable expertise. This contrasts with current consensus guidelines which either do not address or do not recommend specific specialist referral for CP diagnosis.

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Treatable Movement Disorders of Infancy and Early Childhood

Cited by 3 publications

References 129 publications

Top 10 Research Themes for Dystonia in Cerebral Palsy

Top 10 Research Themes for Dystonia in Cerebral Palsy

Spasticity and Dystonia are Underidentified in Young Children at High Risk for Cerebral Palsy

Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy

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