ABSTRACT
BACKGROUND: Angelman syndrome (AS) is a genetic disorder, characterized by a cheerful disposition with bouts of laughter, developmental delay, speech impairment, ataxia, and seizures. Previous AS surveys have focused on the natural history, describing seizure types and response to anti-seizure medications. METHODS: A web-based survey was distributed to caregivers of individuals with AS to characterize motor function, cannabidiol (CBD) use, and factors affecting quality of life (QOL). RESULTS: Of a total of 183 individuals with AS (mean age 19.4 ± 13.4 years; 48.1% female), 72% had sleep problems, 80% had seizures, and 32% had one or more emergency department visits in the previous year. Eighty-eight percent were ambulatory (with or without assistance), and half experienced falls, 10.4% resulting in serious injury. Caregivers reported physical therapy, antiseizure medication, CBD, and clonidine as helpful. Inability to walk, falls/drops, sleep problems, and seizures significantly affected QOL (P < 0.002, <0.001, <0.001, P = 0.001, respectively). QOL was not influenced by gender, distance to the hospital, or genetic abnormality. CONCLUSIONS: These findings suggest that seizures are the tip of the iceberg. Use of a brief, valid screening tool can assist providers with identifying and addressing issues of primary concern to caregivers of individuals with AS.
Subject(s)
Angelman Syndrome , Cannabidiol , Sleep Wake Disorders , Humans , Female , Child , Adolescent , Young Adult , Adult , Male , Quality of Life , Caregivers , Ataxia , Sleep Wake Disorders/etiologyABSTRACT
STUDY DESIGN: Clinical practice guidelines. OBJECTIVES: The objective was to update the 2016 version of the Canadian clinical practice guidelines for the management of neuropathic pain in people with spinal cord injury (SCI). SETTING: The guidelines are relevant for inpatient, outpatient and community SCI rehabilitation settings in Canada. METHODS: The guidelines were updated in accordance with the Appraisal of Guidelines for Research and Evaluation II tool. A Steering Committee and Working Group reviewed the relevant evidence on neuropathic pain management (encompassing screening and diagnosis, treatment and models of care) after SCI. The quality of evidence was scored using Grading of Recommendations Assessment, Development and Evaluation (GRADE). A consensus process was followed to achieve agreement on recommendations and clinical considerations. RESULTS: The working group identified and reviewed 46 additional relevant articles published since the last version of the guidelines. The panel agreed on 3 new screening and diagnosis recommendations and 8 new treatment recommendations. Two key changes to these treatment recommendations included the introduction of general treatment principles and a new treatment recommendation classification system. No new recommendations to model of care were made. CONCLUSIONS: The CanPainSCI recommendations for the management of neuropathic pain after SCI should be used to inform practice.
Subject(s)
Neuralgia , Spinal Cord Injuries , Canada , Consensus , Humans , Neuralgia/diagnosis , Neuralgia/etiology , Neuralgia/therapy , Spinal Cord Injuries/complications , Spinal Cord Injuries/rehabilitationABSTRACT
Background: Optimal management of neuropathic pain (NP) is essential to enhancing health-related quality of life for individuals living with spinal cord injury (SCI). A key strategic priority for the Ontario Neurotrauma Foundation (ONF) and Rick Hansen Institute (RHI) is optimizing NP management after SCI. Aims: A National Canadian Summit, sponsored by ONF and RHI, was held to develop a strategic plan to improve NP management after SCI. Methods: In a one-day meeting held in Toronto, Ontario, a multidisciplinary panel of 18 Canadian stakeholders utilized a consensus workshop methodology to (1) describe the current state of the field, (2) create a long-term vision, and (3) identify steps for moving into action. Results: A review of the current state of the field identified strengths including rigourously developed evidence syntheses and practice landscape documentation. Identified gaps included limited evidence on NP hindering recommendation development in evidence syntheses, absence of a national strategy, care silos with limited cross-continuum connections, limited consumer involvement, and limited practice standard implementation. The panel identified key themes for a long-term vision to improve the management of SCI NP in Canada, including establishing an integrated collaborative network; standardized care and outcome evaluation; education; advocacy; and directing resources to innovative solutions. The panel identified the next step as prioritization of areas that will have the greatest impact in a 5-year time frame. Conclusion: A strategic plan outlining a long-term vision to improve management of NP after SCI in Canada was developed and will inform future activities of the sponsors.
Contexte: La gestion optimale de la douleur neuropathique est essentielle à l'amélioration de la qualité de vie liée à la santé des personnes vivant avec une lésion de la moelle épinière. L'une des priorités stratégiques de la Fondation ontarienne de neurotraumatologie et de l'Institut Rick Hansen est l'optimisation de la prise en charge de la douleur neuropathique après une lésion de la moelle épinière.Buts: Un sommet national canadien parrainé par la Fondation ontarienne de neurotraumatologie et l'Institut Rick Hansen a été tenu afin d'élaborer un plan stratégique pour l'amélioration de la gestion de la douleur neuropathique après une lésion de la moelle épinière.Méthodes: Dans le cadre d'une rencontre d'une journée tenue à Toronto, Ontario, un panel multidisciplinaire composé de 18 parties prenantes canadiennes a eu recours à la méthodologie de l'atelier consensuel pour (1) décrire la situation actuelle dans le domaine, (2) définir une vision à long terme et (3) déterminer les étapes à suivre pour passer à l'action.Résultats: Une revue de la situation actuelle dans le domaine a permis d'en répertorier les forces, parmi lesquelles on compte des synthèses de données probantes élaborées avec rigueur et la documentation des pratiques. Les lacunes suivantes ont été répertoriées: des données probantes limitées en ce qui concerne la formulation de recommandations pour empêcher la douleur neuropathique dans les synthèses de données probantes; l'absence de stratégie nationale; un mode de prestation des soins en silos, où les liens entre les continuums sont limités; une participation du consommateur limitée et une mise en Åuvre limitée des normes de pratique. Le panel a répertorié les grands thèmes pour élaborer une vision à long terme afin d'améliorer la prise en charge de la douleur neuropathique occasionnée par une lésion de la moelle épinière au Canada, parmi lesquels on compte: l'établissement d'un réseau de collaboration intégré; la normalisation des soins et l'évaluation des résultats; l'éducation; le plaidoyer; et l'attribution de ressources aux solutions novatrices. Le panel a déterminé que la prochaine étape consisterait à prioriser les domaines qui auront le plus de répercussions au cours des cinq prochaines années.Conclusion: Un plan stratégique définissant une vision à long terme pour améliorer la prise en charge de la douleur neuropathique après une lésion de la moelle épinière a été élaboré. Ce plan servira de base aux prochaines activités des promoteurs.
