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Single-particle imaging and tracking can be combined with colocalization analysis to study the dynamic interactions between macromolecules in living cells. Indeed, single-particle tracking has been extensively used to study protein-DNA interactions and dynamics. Still, unbiased identification and quantification of binding events at specific genomic loci remains challenging. Herein, we describe CoPixie, a new software that identifies colocalization events between a theoretically unlimited number of imaging channels, including single-particle movies. CoPixie is an object-based colocalization algorithm that relies on both pixel and trajectory overlap to determine colocalization between molecules. We employed CoPixie with live-cell single-molecule imaging of telomerase and telomeres, to test the model that cancer-associated POT1 mutations facilitate telomere accessibility. We show that POT1 mutants Y223C, D224N or K90E increase telomere accessibility for telomerase interaction. However, unlike the POT1-D224N mutant, the POT1-Y223C and POT1-K90E mutations also increase the duration of long-lasting telomerase interactions at telomeres. Our data reveal that telomere elongation in cells expressing cancer-associated POT1 mutants arises from the dual impact of these mutations on telomere accessibility and telomerase retention at telomeres. CoPixie can be used to explore a variety of questions involving macromolecular interactions in living cells, including between proteins and nucleic acids, from multicolor single-particle tracks.
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Algoritmos , Mutação , Complexo Shelterina , Imagem Individual de Molécula , Software , Telomerase , Proteínas de Ligação a Telômeros , Telômero , Telomerase/metabolismo , Telomerase/genética , Telômero/metabolismo , Telômero/genética , Humanos , Proteínas de Ligação a Telômeros/metabolismo , Proteínas de Ligação a Telômeros/genética , Complexo Shelterina/metabolismo , Imagem Individual de Molécula/métodos , Ligação ProteicaRESUMO
PURPOSE: Evidence on co-occurring mental health problems in youth with physical disabilities is growing, however how services are provided remains unclear. This study examined current interprofessional rehabilitation practices for physical and mental health services. METHODS: Youth (aged 15-24) followed for a physical disability that had mental health problems were identified. Chart reviews were used to identify practices. Mental health-related diagnoses/symptoms, assessments, goals, interventions, and referrals were extracted for inductive content analysis. RESULTS: Sixty charts were reviewed. Mental health problems included anxiety (n = 53), depression (n = 25), neurodevelopmental (n = 19) and personality disorders (n = 8), often (n = 36) citing more than one. No mental health assessments were found, and in 43%, no goals or interventions were evident. Relevant goals (n = 98) targeted emotional management, autonomy/communication of needs, acceptance of physical condition, socialization, routines/energy levels, school/work supports, and leisure/calming environments. Interventions (n = 104) included emotional management, formal individual/group therapy, links with external supports, routines/activities, reflection/acceptance, and school/work support. Mental health services were received in-house (n = 24) and/or externally (n = 30), plus 18 referrals pending and 14 not referred. CONCLUSION: Many had more than one mental health problem, suggesting the complexity of their condition. While some mental health goals/interventions are documented, problems may often not be reported or addressed in this context.
Further attention can be directed to the needs of youth with physical disabilities and co-occurring mental health problems as they are not fully addressed by current interdisciplinary rehabilitation practices.Follow-up (services and referrals) should be adapted to the holistic needs of youth and their goals within the rehabilitation context.Rehabilitation professionals can be provided with training to build workforce capacity in mental health screening and have access to guidance when addressing situations related to mental health or referring to external services.
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Horyzons is a digital health intervention designed to support recovery in young people receiving specialized early intervention services for first-episode psychosis (FEP). Horyzons was developed in Australia and adapted for implementation in Canada based on input from clinicians and patients (Horyzons-Canada Phase 1) and subsequently pilot-tested with 20 young people with FEP (Horyzons-Canada Phase 2). OBJECTIVE: To understand the experiences of young adults with FEP who participated in the pilot study based on focus group data. METHODS: Among the twenty individuals that accessed the intervention, nine participated across four focus groups. Three team members were involved in data management and analysis, informed by a thematic analysis approach. A coding framework was created by adapting the Phase 1 framework to current study objectives, then revised iteratively by applying it to the current data. Once the coding framework was finalized, it was systematically applied to the entire dataset. RESULTS: Four themes were identified: (1) Perceiving Horyzons-Canada as helpful for recovery; (2) Appreciating core intervention components (i.e., peer networking; therapeutic content; moderation) and ease of use; (3) Being unaware of its features; and (4) Expressing concerns, suggestions, and future directions. CONCLUSIONS: Horyzons-Canada was well received, with participants wanting it to grow in scale, accessibility, and functionality.
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Saúde Mental , Transtornos Psicóticos , Adulto Jovem , Humanos , Adolescente , Grupos Focais , Projetos Piloto , Transtornos Psicóticos/terapia , Transtornos Psicóticos/psicologia , AustráliaRESUMO
Introduction: Youth with childhood-onset physical disabilities receiving rehabilitation services often present with many complex needs. Emerging evidence confirms co-occurrence of mental health problems in this population is common, and mental health is often overlooked during rehabilitation for chronic physical conditions. For example, symptoms of depression and anxiety are frequently present in adolescents with physical disability such as spina bifida or Duchenne muscular dystrophy, and access to mental health services is often limited. Addressing mental health concerns for this age group is particularly critical as it encompasses a challenging transition to adulthood. Objectives: Building upon findings from a recent scoping review on the co-occurrence of physical disabilities and mental health problems, this paper synthesizes scientific literature related to the organization and delivery of services for youth with co-occurring childhood-onset physical disabilities (e.g., cerebral palsy, spina bifida) and mental health problems (e.g., depression, anxiety). Methods: A scoping review protocol stemming from Arksey & O'Malley's framework and updated guidelines from the Joanna Briggs Institute was developed. Four databases (Medline, PsycINFO, CINAHL, Embase) were searched. The search was limited to French or English peer-reviewed articles published between 2000 and 2021. Articles included were primary papers addressing: 1) youth aged 15 to 24 with a childhood-onset physical disability, 2) mental health problems, and 3) healthcare service organization or delivery. They were screened by two reviewers and discussed with a third to establish consensus on the inclusion criteria and resolve disagreements. Results: Sixteen articles were retained from the 1,010 screened. Many (9/16) were from the United States. Two models were found: the Biopsychosocial, Collaborative, Agency-Based Service Integration Approach (including psychiatry in a pediatric rehabilitation hospital) and the Client Network Consultation (an interagency collaboration in mental health care for children with complex healthcare needs). Twelve key principles for service organization and delivery were identified and categorized into: collaboration and coordination, training and support, and delivery of care. Conclusion: Identified principles can guide improved service delivery for this population. Highlighted research gaps include the need for developing models of collaborative healthcare delivery and subsequently evaluating their effectiveness.
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Aim: This scoping review aims to better understand the extent and nature of research activity on the topic of mental health problems in young people with childhood-onset physical disabilities. Specifically, we document what has been investigated in terms of the occurrence and experience of mental health problems among young people with childhood-onset physical disabilities, and their access to mental health services. Methods: We searched four databases (Medline, PsycINFO, CINAHL, Embase) for articles published between 2007 and 2019. Studies were included if they addressed: (1) young people between the ages of 13 and 24 with a childhood-onset physical disability, and (2) mental health assessment, treatment, or service access and use. Results: We identified 33 peer-reviewed studies that focused mainly on young people with cerebral palsy, juvenile arthritis, and spina bifida. The most common mental health problems investigated were depression and mood related difficulties (73%), anxiety (39%), and social/behavioural issues (33%) and the most common age range was 13 to 17. Ten studies explored access, use, and experiences of mental health services; stigma; caregiver mental health; and value for comprehensive care, using qualitative, quantitative, or mixed methods. Conclusions: Findings suggest the importance of developing integrated models of service delivery to identify and address the mental health needs of this population, and consensus on best practices for assessment and reporting rates of subclinical symptoms and psychiatric conditions.
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Objectives: To evaluate the effectiveness of a high-dose (HD) oral cephalexin treatment guideline for children with moderate cellulitis treated as outpatients. Methods: In this retrospective cohort study, we included children who presented to the emergency department (ED) with moderate cellulitis and treated according to the institution's HD oral cephalexin guideline over a 2-year period. All children had standardized follow-up at a medical day hospital (MDH). Treatment was considered effective in the absence of treatment failure, defined as admission, switch to IV treatment or ED visit within 2 weeks of discharge from the MDH. Safety was ascertained by recording adverse events and severe complications at follow-up. Results: A total of 123 children were treated as outlined in the guideline, including 117 treated with HD oral cephalexin. The success rate was 89.7% (105/117). Among 12 (10.3%) children who had treatment failure, 10 (8.5%) required admission, 1 (0.9%) received IV antibiotics at the MDH and 1 (0.9%) had a return visit to the ED without admission. No severe complications were reported; four abscesses required drainage and one patient had a rash. The mean number of visits per child at the MDH was 1.6 (SD 1.0). Conclusions: With a success rate of 89.7%, HD oral cephalexin seems effective and safe for the treatment of children with moderate cellulitis. Its use potentially reduces hospitalization rates for this condition and decreases the need for IV insertion.
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OBJECTIVE: To describe the problems faced by young patients and their parents when obtaining and using compounded drugs. METHODS: This prospective observational descriptive study included patients 0 to 21 years of age who were discharged from a mother-child tertiary hospital with a prescription containing at least one compounded drug between February 2016 and July 2016. Families were called 7 to 10 business days after discharge to complete a telephone follow-up questionnaire. Retail pharmacies were contacted to obtain additional information in order to compare the dispensed compounded drug with the prescription and published master formulas. RESULTS: The parents of 71 patients with a median age of 6.9 months were surveyed regarding 99 compounded drugs corresponding to 34 different oral formulations. Out of 314 issues identified, 252 were considered as problems: 9 involved major and 243 minor problems with real or potential consequences. CONCLUSION: This study identified a significant number of compounding-related problems. It suggests that current practice standards are insufficient and action should be taken to improve the use and the dispensation of compounded drugs to ensure patients' safety.
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BACKGROUND: Inclusive educational environments can have a positive effect on the general health and well-being of children with disabilities. However, their level of academic success and participation remains limited. Considering scarce resources and high needs, identifying efficient methods for providing interdisciplinary services is critical. This scoping review, therefore, aims to (a) synthesize current evidence about principles for organizing and delivering interdisciplinary school-based support services for students with disabilities and (b) ascertain useful strategies for implementation of principles in the school setting. METHODS: Scholarly and grey literature in rehabilitation and education were reviewed collaboratively with school-based stakeholders. A search of five databases identified 13,141 references and resulted in 56 relevant articles published from 1998 to 2017. Information (e.g., principles to organize services and strategies for implementation) was extracted, and thematic analysis was used to summarize findings. RESULTS: Within the documents retained, 65% were scientific and 35% were grey. Services primarily targeted students with behavioral issues, followed by those with cognitive and learning disabilities with a focus on improving social-emotional functioning and academic performance. Thematic analysis revealed 10 common principles to guide service organization (e.g., collaborative interventions and support for teachers) and seven implementation strategies (e.g., training and coordination) for employing these principles. CONCLUSIONS: Findings can guide rehabilitation professionals, educators, and policy makers in restructuring well-coordinated collaborative services involving training and capacity-building of school-based service providers. Such knowledge can contribute to the improved provision of care and, consequently, promote children's school participation and inclusion.
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Serviços de Saúde da Criança/organização & administração , Crianças com Deficiência , Serviços de Saúde Escolar/organização & administração , Meio Social , Fortalecimento Institucional , Criança , Guias como Assunto , Humanos , Comportamento Social , Apoio SocialRESUMO
BACKGROUND: While participation is essential to a child's health and well-being, little is known about participation patterns of young children with disabilities. OBJECTIVE: This study described the participation of children with disabilities under age 6, and examined the extent to which the child's factors (i.e., age, complexity of child's condition), family factors (i.e., general family functioning, income) and environmental factors (i.e., environmental helpfulness) affect participation dimensions (frequency, involvement, desire for change) in three different settings: home, daycare/preschool and community. METHODS: Cross-sectional design was employed. Parents (n = 90) of children aged 1.4-6 years old (mean = 4.15, SD = 1.03) with disabilities completed the French Young Children's Participation and Environment Measure (YC-PEM) and Family Assessment Device. Descriptive statistics and multiple linear regressions were performed to describe participation patterns and identify the significant explanatory factors in each setting. RESULTS: Participation restriction, based on frequency of activities, was primarily observed in the community setting. Environmental helpfulness (resources, supports) consistently explained participation levels for at least one of the dimensions across all settings, whereas contribution of the child's factors was less evident. Family functioning had a significant effect when examining participation involvement in the community and desire for change in the home setting and, in combination with environmental helpfulness, explained 18% and 21% of the variance respectively. CONCLUSION: This study emphasizes the role of the environment in supporting participation of young children with disabilities. Findings can re-direct practitioners' attention towards modifying the environment as a primary target of intervention aimed at promoting health through participation.
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Creches , Crianças com Deficiência , Família , Características de Residência , Participação Social , Apoio Social , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pais , Meio Social , Inquéritos e QuestionáriosRESUMO
Pathways and Resources for Engagement and Participation (PREP), an innovative intervention aimed at modifying the environment and coaching youth/parents, was found to be effective in improving youth participation in chosen community activities. In order to complement existing quantitative evidence, this study examined parents' perspectives on the PREP approach. Twelve parents of youth with physical disabilities (12 to 18 years old) who received the PREP approach participated in individual semi-structured interviews following the 12-week intervention delivered by an occupational therapist. Thematic analysis revealed three inter-linked themes, the first of which was informative, describing the "nature of intervention", and led to two reflective themes: "multi-faceted effects of care" and "process of care". Parents highlighted the effect of the PREP intervention in a broad sense, extending beyond the accomplishment of the selected activities. This involved improvements on the physical, emotional, and social levels as well as in autonomy. Parents also discussed how their own needs were acknowledged through the intervention and recognized the unique role of the occupational therapist in supporting this process. The findings provide additional information about the usefulness of the PREP approach and describe the various benefits generated by a single intervention. Such knowledge can expand the therapeutic options for positive, health-promoting participation.
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Participação da Comunidade , Crianças com Deficiência , Pais/psicologia , Adolescente , Feminino , Promoção da Saúde , Humanos , Masculino , QuebequeRESUMO
AIMS: To describe the focus of therapy practices in occupational and physical therapy for school-aged children with cerebral palsy, and better understand whether it is congruent with recommended practices. METHODS: A Canada-wide Web-based survey was completed by 62 occupational and 61 physical therapists to identify problems, assessments, and treatment interventions for two case-based scenarios. Data were coded using the International Classification of Functioning, Disability and Health (ICF) definitions for "body functions and structure," "activity and participation," and "environment." RESULTS: Physical therapists, in comparison to occupational therapists, were more likely to select interventions classed in the "body functions and structure" category (34-42% and 18-20%, respectively). Both professions focused on "activity and participation" (34-61%) when identifying problems, assessing, and intervening; attention, however, was mainly directed towards task-oriented activities such as activities of daily living and mobility. Participation in leisure or community-based activities received less attention (2-15%). The environment received limited attention for problems and assessments (4-25%), though it was an important focus of intervention (19-37%). CONCLUSIONS: While body functions and structure are well-addressed, other ICF elements, specifically participation, are poorly integrated into practice. The emerging focus on the environment in therapy intervention, by modifying the context rather than changing aspects of the child, is consistent with current approaches and evidence. Knowledge translation implementation initiatives are recommended to bridge identified gaps.
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Paralisia Cerebral/reabilitação , Terapia Ocupacional/métodos , Modalidades de Fisioterapia , Atividades Cotidianas , Acessibilidade Arquitetônica , Canadá , Paralisia Cerebral/fisiopatologia , Criança , Estudos Transversais , Feminino , Humanos , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Atividades de Lazer , Masculino , Destreza Motora/fisiologia , Movimento/fisiologia , Amplitude de Movimento Articular , Tecnologia Assistiva , Participação Social , Inquéritos e QuestionáriosRESUMO
PURPOSE: A power wheelchair simulator can allow users to safely experience various driving tasks. For such training to be efficient, it is important that driving performance be equivalent to that in a real wheelchair. This study aimed at comparing driving performance in a real and in a simulated environment. METHOD: Two groups of healthy young adults performed different driving tasks, either in a real power wheelchair or in a simulator. Smoothness of joystick control as well as the time necessary to complete each task were recorded and compared between the two groups. Driving strategies were analysed from video recordings. The sense of presence, of really being in the virtual environment, was assessed through a questionnaire. RESULTS: Smoothness of joystick control was the same in the real and virtual groups. Task completion time was higher in the simulator for the more difficult tasks. Both groups showed similar strategies and difficulties. The simulator generated a good sense of presence, which is important for motivation. CONCLUSIONS: Performance was very similar for power wheelchair driving in the simulator or in real life. Thus, the simulator could potentially be used to complement training of individuals who require a power wheelchair and use a regular joystick. [Box: see text].
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Condução de Veículo/psicologia , Simulação por Computador , Análise e Desempenho de Tarefas , Interface Usuário-Computador , Cadeiras de Rodas , Adulto , Análise de Variância , Distribuição de Qui-Quadrado , Feminino , Humanos , Masculino , Estatística como Assunto , Inquéritos e Questionários , Gravação de VideoteipeRESUMO
OBJECTIVE: To report a case of Cushing's syndrome caused by continuous use of moderate- to high-potency topical corticosteroids over several months. CASE SUMMARY: An 11-month-old patient with atopic dermatitis received uninterrupted treatment with moderate- to high-potency topical corticosteroids. He presented with several food allergies and was admitted to the hospital after atopic dermatitis worsened. Signs of growth retardation, which had begun at 6 months of age, were also noted during the child's hospital stay. An endocrinologist concluded that a lower-than-normal bone density scan and growth retardation on both weight and growth curves were due to suppression of the hypothalamicpituitary-adrenal (HPA) axis and a multifactorial failure to thrive. DISCUSSION: This is a case of an infant overexposed to topical corticosteroid treatment who developed Cushing's syndrome within a few months. Local treatment of atopic dermatitis is classically based on the use of topical corticosteroids in combination with an emollient or other drugs. To limit local and general damaging effects, the choice of topical corticosteroid must be made in terms of patient age, severity and site of the rash, and the extent of skin involvement. Several factors influence the systemic absorption of topical corticosteroids. While our literature review indicated the possibility of a multifactorial origin of the child's growth retardation, the use of topical corticosteroids was shown to have contributed to suppression of the HPA axis. Application of the Naranjo probability scale indicated a probable relationship between the continuous and sustained administration of topical corticosteroids over several months and suppression of the HPA axis. Although topical corticosteroids are widely used and can be perceived by parents and patients to be safe, daily documentation of agents used and body surfaces exposed should be done during long-term treatment. CONCLUSIONS: Continuous use of moderate- to high-potency topical corticosteroids over several months can contribute to Cushing's syndrome. Growth and development as well as cortisol levels should be monitored in children on long-term topical corticosteroid treatment.
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Síndrome de Cushing/induzido quimicamente , Dermatite Atópica/tratamento farmacológico , Glucocorticoides/efeitos adversos , Administração Cutânea , Densidade Óssea/efeitos dos fármacos , Síndrome de Cushing/fisiopatologia , Monitoramento de Medicamentos , Insuficiência de Crescimento/induzido quimicamente , Glucocorticoides/administração & dosagem , Humanos , Sistema Hipotálamo-Hipofisário/efeitos dos fármacos , Lactente , Masculino , Sistema Hipófise-Suprarrenal/efeitos dos fármacos , Índice de Gravidade de Doença , Fatores de TempoRESUMO
The idea that the brain controls movement using a neural representation of limb dynamics has been a dominant hypothesis in motor control research for well over a decade. Speech movements offer an unusual opportunity to test this proposal by means of an examination of transfer of learning between utterances that are to varying degrees matched on kinematics. If speech learning results in a generalizable dynamics representation, then, at the least, learning should transfer when similar movements are embedded in phonetically distinct utterances. We tested this idea using three different pairs of training and transfer utterances that substantially overlap kinematically. We find that, with these stimuli, speech learning is highly contextually sensitive and fails to transfer even to utterances that involve very similar movements. Speech learning appears to be extremely local, and the specificity of learning is incompatible with the idea that speech control involves a generalized dynamics representation.
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Aprendizagem/fisiologia , Desempenho Psicomotor/fisiologia , Fala/fisiologia , Humanos , Arcada Osseodentária/fisiologia , Movimento/fisiologia , Língua/fisiologiaRESUMO
The hypothesis that speech goals are defined acoustically and maintained by auditory feedback is a central idea in speech production research. An alternative proposal is that speech production is organized in terms of control signals that subserve movements and associated vocal-tract configurations. Indeed, the capacity for intelligible speech by deaf speakers suggests that somatosensory inputs related to movement play a role in speech production-but studies that might have documented a somatosensory component have been equivocal. For example, mechanical perturbations that have altered somatosensory feedback have simultaneously altered acoustics. Hence, any adaptation observed under these conditions may have been a consequence of acoustic change. Here we show that somatosensory information on its own is fundamental to the achievement of speech movements. This demonstration involves a dissociation of somatosensory and auditory feedback during speech production. Over time, subjects correct for the effects of a complex mechanical load that alters jaw movements (and hence somatosensory feedback), but which has no measurable or perceptible effect on acoustic output. The findings indicate that the positions of speech articulators and associated somatosensory inputs constitute a goal of speech movements that is wholly separate from the sounds produced.