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1.
Healthcare (Basel) ; 12(2)2024 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-38255066

RESUMO

Ambulance services around the world are increasingly attending to calls for non-emergency conditions. These lower-acuity conditions do not always require patients to be transported to the emergency department. Consequently, over the past two decades, ambulance services have implemented strategies to support paramedics in diverting non-urgent patients to alternative care pathways. However, assessing and managing low-acuity conditions can be challenging for paramedics, especially when education and training has traditionally focussed on emergency care. This scoping review explores the education and training provided to paramedics on low-acuity clinical conditions and the use of alternative care pathways. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews was applied. The databases searched included Scopus, CINAHL, Embase, Emcare, and MEDLINE (PubMed). The search identified one-hundred sixty-six records, with a total of nine articles reviewed after the removal of duplicates and the screening process. The articles were diverse, with education and training ranging from university degrees for extended care practitioners to short in-service-based training for a suite of protocols or assessment tools. However, the literature addressing education and training on low-acuity conditions and alternative care pathways is limited, with the type and length of education programs appearing to influence practice. There is a need for further research to establish a low acuity education model.

2.
Nurs Rep ; 13(1): 265-272, 2023 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-36810276

RESUMO

Ambulance services worldwide have transformed over time into health care services that not only attend to life-threatening emergencies, but are also increasingly being utilised for patients with low-acuity or non-urgent illness and injury. As a result, there has been a need to adapt and include mechanisms to assist paramedics in the assessment and management of such patients, including alternative pathways of care. However, it has been identified that education and training for paramedics in the care of low-acuity patients is limited. This study aims to identify potential gaps in the literature and inform further research, paramedic education and training, patient care guidelines, and policy. A scoping review will be conducted utilising the Joanna Briggs Institutes methodology. A range of relevant electronic databases will be searched along with the grey literature, using search terms related to paramedic education for low-acuity patient care pathways. The search results will be screened by two authors and presented in the PRISMA-ScR format, with articles presented in tabular format and analysed thematically. The results of this scoping review will inform further research exploring paramedic education, clinical guidelines, policy and experiences in the management of low-acuity patients.

3.
Sleep Med Rev ; 58: 101461, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33838561

RESUMO

This systematic review and meta-analysis evaluated the diagnostic accuracy of screening instruments for restless legs syndrome (RLS) and reports sensitivity, specificity, positive (PPV) and negative predictive values (NPV). Searches for primary studies were conducted in electronic databases. Of the 1541 citations identified, 52 were included in the meta-analysis. The methodological quality of each study was evaluated using QUADAS-2. Only 14 studies assessed the reference standard in all participants or in all screen-positives and a selection of screen-negatives. Bivariate meta-analysis of these 14 studies estimated median sensitivity to be 0.88 (0.72-0.96) and specificity 0.90 (0.84-0.93); based on a population prevalence of 5%, the calculated PPV was 0.31 (0.27-0.34). For all 52 studies, with either full or partial verification of RLS status, we constructed best-case scenario sensitivities and specificities at pre-defined levels of prevalence: across all samples, when prevalence is 5%, the median best-case scenario PPV is 0.48 with significant between-study heterogeneity. No RLS screening instruments can currently be recommended for use without an expert clinical interview in epidemiological studies. For conditions with statistically low prevalence such as RLS, the specificity, not the sensitivity, of a screening instrument determines true prevalence. Therefore, future instruments should maximize specificity. We provide guidelines on RLS ascertainment in epidemiological studies that requires a two-step process with clinical interview following a screening test, and given the poor reporting quality of many RLS epidemiological studies, we include an RLS reporting checklist.


Assuntos
Síndrome das Pernas Inquietas , Testes Diagnósticos de Rotina , Humanos , Prevalência , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/epidemiologia , Sensibilidade e Especificidade
4.
Int Emerg Nurs ; 56: 101007, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33872941

RESUMO

INTRODUCTION: Frailty rates are increasing with population ageing. In paramedicine, Clinical Practice Guidelines (CPGs) are essential documents that support decision making, yet little evidence exists regarding the support CPGs provide paramedics in the care of frail and older adults. AIM: To investigate how CPGs support paramedics' care of frail and older adults. METHODS: CPGs from nine Australasian paramedic services were collected in 2019. Content analysis was used to explore two hundred and thirty-seven individual CPGs for decision support information regarding frail and older adults. RESULTS: Evidence-based content relating to older adults was sparse compared to paediatric content. Two overarching decision support domains were identified, patient assessment and management. Inconsistent age descriptors were widespread, particularly in pharmacological guidelines. Five service providers' CPGs contained validated assessment instruments for use with older adults. CONCLUSION: Decision support documentation regarding frail and older adults varies across Australasian paramedic services. Frailty and older adult specific CPGs, and validated assessment instruments suitable to the paramedicine environment could improve paramedic decision making and minimise patient risk. A collaborative approach encompassing service providers and educational institutions is crucial to develop consistent, evidence-based CPGs relevant to older adults.


Assuntos
Serviços Médicos de Emergência , Auxiliares de Emergência , Serviços de Saúde para Idosos , Idoso , Pessoal Técnico de Saúde , Criança , Idoso Fragilizado , Humanos , Guias de Prática Clínica como Assunto
6.
BMC Med Educ ; 21(1): 45, 2021 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-33435971

RESUMO

BACKGROUND: Evidence-based practice is an important component of pre-service professional learning in medicine and allied health degrees, including new programmes in paramedicine. Despite substantial interest in this area, there is still a lack of clear understanding of how the skills and understandings needed to develop the capacity to apply evidence-based practice can best be learned. Evidence-based practice is often described as consisting of five steps: ask, acquire, appraise, apply and assess. This study focuses on paramedicine students' learning about the first three steps in a final year unit which explicitly aims to develop their skills in relation to these. METHODS: We conducted a qualitative study of learning journals recorded by 101 of 121 students in a final year unit of a paramedicine degree (20 students either withheld consent for their journals to be used in the research or did not complete their journal entries). We used phenomenographic approaches to the data analysis in order to identify both variation in students' learning and the factors affecting this variation. RESULTS: We observed variation in students' understanding of the purpose of literature analysis, the nature of medical research and its relationship to practice. In all three, we identify two main factors contributing to the variation in student learning outcomes: epistemological stance, and opportunities for metacognitive learning generated through peer interactions and self-reflection. We also found that as students begin to grapple with the complexity of medical research, this sometimes produced negative attitudes towards its value; such unintended outcomes need to be recognised and addressed. CONCLUSIONS: We suggest key factors that should be considered in developing coursework intended to enhance students' understandings about the processes and application of evidence-based practice. Providing collaborative learning opportunities that address the architecture of variation we observed may be useful in overcoming epistemological and metacognitive barriers experienced by students.


Assuntos
Aprendizagem , Estudantes de Medicina , Prática Clínica Baseada em Evidências , Humanos , Conhecimento , Pesquisa Qualitativa , Estudantes
7.
Med Teach ; 42(1): 58-65, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31437065

RESUMO

Introduction: Various pressures exist for curricular change, including economic forces, burgeoning knowledge, broadening learning outcomes, and improving quality and outcomes of learning experiences. In an Australian 5-year undergraduate medical course, staff were asked to reduce teaching hours by 20% to alleviate perceived overcrowded preclinical curriculum, achieve operating efficiencies and liberate time for students' self-directed learning.Methods: A case study design with mixed methods was used to evaluate outcomes.Results: Teaching hours were reduced by 198 hours (14%) overall, lectures by 153 hours (19%) and other learning activities by 45 hours (7%). Summative assessment scores did not change significantly after the reductions: 0.4% increase, 1.5% decrease and 1.7% increase in Years 1, 2 and 3, respectively. The percentage of students successfully completing their academic year did not change significantly: 94.4% before and 93.3% after the reductions. Student evaluations from eVALUate surveys changed little, except workload was perceived to be more reasonable.Conclusions: Teaching hours, particularly lectures, can be moderately reduced with little impact on student learning outcomes or satisfaction with an undergraduate medical course.


Assuntos
Educação de Graduação em Medicina/métodos , Docentes de Medicina/estatística & dados numéricos , Aprendizagem , Admissão e Escalonamento de Pessoal/estatística & dados numéricos , Atitude do Pessoal de Saúde , Austrália , Humanos , Estudos de Casos Organizacionais , Estudantes de Medicina/psicologia , Inquéritos e Questionários , Carga de Trabalho
8.
Aust N Z J Public Health ; 41(4): 377-380, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28712151

RESUMO

OBJECTIVE: To estimate the incidence of dog bite-related injuries requiring public sector hospitalisation in Australia during the period 2001-13. METHODS: Summary data on public sector hospitalisations due to dog bite-related injuries with an ICD 10-AM W54.0 coding were sourced from the Australian Institute of Health and Welfare for the study period 2001-2013. RESULTS: In Australia, on average, 2,061 persons were hospitalised each year for treatment for dog bite injuries at an annual rate of 12.39 (95%CI 12.25-12.53) per 100,000 during 2001-13. The highest annual rates of 25.95 (95%CI 25.16-26.72) and 18.42 (95%CI 17.75-19.07) per 100,000 were for age groups 0-4 and 5-9 years respectively. Rates of recorded events increased over the study period and reached 16.15 (95%CI 15.78-16.52) per 100,000 during 2011-13. CONCLUSION: Dog bites are a largely unrecognised and growing public health problem in Australia. Implications for public health: There is an increasing public sector burden of hospitalisations for injuries from dog bites in Australia.


Assuntos
Mordeduras e Picadas/epidemiologia , Hospitalização/tendências , Setor Público , Adolescente , Adulto , Idoso , Animais , Austrália/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Cães , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem
9.
Forensic Sci Int ; 278: 198-204, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28738248

RESUMO

AIM: Intra-oral 3D scanning of dentitions has the potential to provide a fast, accurate and non-invasive method of recording dental information. The aim of this study was to assess the reliability of measurements of human dental casts made using a portable intra-oral 3D scanner appropriate for field use. METHOD: Two examiners each measured 84 tooth and 26 arch features of 50 sets of upper and lower human dental casts using digital hand-held callipers, and secondly using the measuring tool provided with the Zfx IntraScan intraoral 3D scanner applied to the virtual dental casts. The measurements were repeated at least one week later. Reliability and validity were quantified concurrently by calculation of intra-class correlation coefficients (ICC) and standard errors of measurement (SEM). RESULTS: The measurements of the 110 landmark features of human dental casts made using the intra-oral 3D scanner were virtually indistinguishable from measurements of the same features made using conventional hand-held callipers. The difference of means as a percentage of the average of the measurements by each method ranged between 0.030% and 1.134%. The intermethod SEMs ranged between 0.037% and 0.535%, and the inter-method ICCs ranged between 0.904 and 0.999, for both the upper and the lower arches. The inter-rater SEMs were one-half and the intra-method/rater SEMs were one-third of the inter-method values. CONCLUSION: This study demonstrates that the Zfx IntraScan intra-oral 3D scanner with its virtual on-screen measuring tool is a reliable and valid method for measuring the key features of dental casts.


Assuntos
Instrumentos Odontológicos , Imageamento Tridimensional , Modelos Dentários , Odontometria/instrumentação , Odontometria/métodos , Arco Dental/anatomia & histologia , Humanos , Processamento de Imagem Assistida por Computador/métodos , Reprodutibilidade dos Testes , Dente/anatomia & histologia
10.
Anat Sci Educ ; 10(6): 514-527, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28423232

RESUMO

The Anatomy Learning Experiences Questionnaire (ALEQ) was designed by Smith and Mathias to explore students' perceptions and experiences of learning anatomy. In this study, the psychometric properties of a slightly altered 34-item ALEQ (ALEQ-34) were evaluated, and correlations with learning outcomes investigated, by surveying first- and second-year undergraduate medical students; 181 usable responses were obtained (75% response rate). Psychometric analysis demonstrated overall good reliability (Cronbach's alpha of 0.85). Exploratory factor analysis yielded a 27-item, three-factor solution (ALEQ-27, Cronbach's alpha of 0.86), described as: (Factor 1) (Reversed) challenges in learning anatomy, (Factor 2) Applications and importance of anatomy, and (Factor 3) Learning in the dissection laboratory. Second-year students had somewhat greater challenges and less positive attitudes in learning anatomy than first-year students. Females reported slightly greater challenges and less confidence in learning anatomy than males. Total scores on summative gross anatomy examination questions correlated with ALEQ-27, Pearson's r = 0.222 and 0.271, in years 1 and 2, respectively, and with Factor 1, r = 0.479 and 0.317 (all statistically significant). Factor 1 also had similar correlations across different question types (multiple choice; short answer or essay; cadaveric; and anatomical models, bones, or radiological images). In a retrospective analysis, Factor 1 predicted poor end-of-semester anatomy examination results in year 1 with a sensitivity of 88% and positive predictive value of 33%. Further development of ALEQ-27 may enable deeper understanding of students' learning of anatomy, and its ten-item Factor 1 may be a useful screening tool to identify at-risk students. Anat Sci Educ 10: 514-527. © 2017 American Association of Anatomists.


Assuntos
Anatomia/educação , Educação de Graduação em Medicina/organização & administração , Avaliação Educacional/métodos , Psicometria/métodos , Inquéritos e Questionários , Compreensão , Currículo , Educação de Graduação em Medicina/métodos , Feminino , Humanos , Aprendizagem , Masculino , Percepção , Reprodutibilidade dos Testes , Estudos Retrospectivos , Estudantes de Medicina/psicologia , Estudantes de Medicina/estatística & dados numéricos
11.
Anat Sci Educ ; 9(6): 545-554, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27802370

RESUMO

In an attempt to improve undergraduate medical student preparation for and learning from dissection sessions, dissection audio-visual resources (DAVR) were developed. Data from e-learning management systems indicated DAVR were accessed by 28% ± 10 (mean ± SD for nine DAVR across three years) of students prior to the corresponding dissection sessions, representing at most 58% ± 20 of assigned dissectors. Approximately 50% of students accessed all available DAVR by the end of semester, while 10% accessed none. Ninety percent of survey respondents (response rate 58%) generally agreed that DAVR improved their preparation for and learning from dissection when used. Of several learning resources, only DAVR usage had a significant positive correlation (P = 0.002) with feeling prepared for dissection. Results on cadaveric anatomy practical examination questions in year 2 (Y2) and year 3 (Y3) cohorts were 3.9% (P < 0.001, effect size d = -0.32) and 0.3% lower, respectively, with DAVR available compared to previous years. However, there were positive correlations between students' cadaveric anatomy question scores with the number and total time of DAVR viewed (Y2, r = 0.171, 0.090, P = 0.002, n.s., respectively; and Y3, r = 0.257, 0.253, both P < 0.001). Students accessing all DAVR scored 7.2% and 11.8% higher than those accessing none (Y2, P = 0.015, d = 0.48; and Y3, P = 0.005, d = 0.77, respectively). Further development and promotion of DAVR are needed to improve engagement and learning outcomes of more students. Anat Sci Educ 9: 545-554. © 2016 American Association of Anatomists.


Assuntos
Anatomia/educação , Recursos Audiovisuais/estatística & dados numéricos , Instrução por Computador/estatística & dados numéricos , Dissecação/educação , Educação de Graduação em Medicina/métodos , Internet/estatística & dados numéricos , Aprendizagem , Estudantes de Medicina/psicologia , Atitude Frente aos Computadores , Cadáver , Compreensão , Currículo , Avaliação Educacional , Escolaridade , Humanos , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários
12.
Int J Gynaecol Obstet ; 134(1): 83-6, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27085981

RESUMO

OBJECTIVE: To understand healthcare providers' experience of incorporating uterine balloon tamponade (UBT) into the national postpartum hemorrhage (PPH) clinical pathway after UBT training. METHODS: In a qualitative study, semi-structured interviews were undertaken with healthcare providers from 50 centers in Freetown, Sierra Leone, between May and June 2014. All eligible healthcare providers (undergone UBT training, actively conducted deliveries, and treated cases of PPH since UBT training) on duty at the time of center visit were interviewed. RESULTS: Sixty-one providers at 47 facilities were interviewed. Bleeding was controlled in 28 (93%) of 30 cases of UBT device placement. Participants reported that UBT devices were easy to insert with only minor challenges, and enabled providers to manage most cases of uncontrolled PPH at their own facility and to refer others in a stable condition. Reported barriers to optimal UBT use included insufficient training and practical experience, and a scarcity of preassembled UBT devices. Facilitators of UBT use included widespread acceptance of UBT, comprehensive and enthusiastic training, and ready availability of UBT devices. CONCLUSION: UBT-used either as a primary endpoint or en route to obtaining advanced care-has been well accepted and integrated into the national PPH pathway by providers in health facilities in Freetown.


Assuntos
Procedimentos Clínicos , Gerenciamento Clínico , Pessoal de Saúde/educação , Hemorragia Pós-Parto/terapia , Tamponamento com Balão Uterino/estatística & dados numéricos , Adolescente , Adulto , Feminino , Humanos , Entrevistas como Assunto , Mortalidade Materna , Gravidez , Pesquisa Qualitativa , Serra Leoa , Adulto Jovem
13.
Curr Opin Neurol ; 27(4): 493-501, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24978636

RESUMO

PURPOSE OF REVIEW: In recent years, there have been a number of advances in the field of restless legs syndrome (RLS) or Willis-Ekbom disease (WED). Here, we review recent studies pertaining to the diagnosis and clinical features, pathogenesis, and treatment of RLS/WED. RECENT FINDINGS: Recent studies have added a temporal dimension to RLS/WED epidemiology by examining both the incidence and persistence rates in different populations. Diagnostic criteria have been modified to increase sensitivity, and new guidelines take into account recently published studies of different drug classes. SUMMARY: Recent epidemiological findings have shown that RLS/WED is a common neurological disorder that affects up to 5% of the adult population in Western countries. In moderate and severe cases, RLS/WED has a strong impact on sleep and quality of life and can involve an increased cardiovascular risk. Diagnosis is made clinically by confirming the presence of the five essential criteria. However, in difficult cases objective tests such as the multiple suggested immobilization test (m-SIT) can be used. The pathophysiology is partially known, with several risk polymorphisms (BTBD-9 (BTB (POZ) domain containing 9), MEIS-1 (Meis homeobox 1), protein tyrosine phosphatase, receptor type, D, and others) playing an important role, along with dopaminergic and iron dysfunctions. The disorder frequently requires long-term treatment with low-dose dopamine agonists or α2δ ligands. Dopamine agonists are usually effective but the main complication, RLS/WED augmentation, can arise.


Assuntos
Síndrome das Pernas Inquietas/genética , Síndrome das Pernas Inquietas/terapia , Agonistas de Dopamina/uso terapêutico , Proteínas de Homeodomínio/genética , Humanos , Proteína Meis1 , Proteínas de Neoplasias/genética , Proteínas do Tecido Nervoso , Polimorfismo de Nucleotídeo Único/genética , Proteínas Tirosina Fosfatases/genética , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/epidemiologia , Fatores de Transcrição/genética
14.
Eur J Neurol ; 19(11): 1385-96, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22937989

RESUMO

BACKGROUND: Since the publication of the first European Federation of Neurological Societies (EFNS) guidelines in 2005 on the management of restless legs syndrome (RLS; also known as Willis-Ekbom disease), there have been major therapeutic advances in the field. Furthermore, the management of RLS is now a part of routine neurological practice in Europe. New drugs have also become available, and further randomized controlled trials have been undertaken. These guidelines were undertaken by the EFNS in collaboration with the European Neurological Society and the European Sleep Research Society. OBJECTIVES: To provide an evidence-based update of new treatments published since 2005 for the management of RLS. METHODS: First, we determined what the objectives of management of primary and secondary RLS should be. We developed the search strategy and conducted a review of the scientific literature up to 31 December 2011 (print and electronic publications) for the drug classes and interventions employed in RLS treatment. Previous guidelines were consulted. All trials were analysed according to class of evidence, and recommendations made according to the 2004 EFNS criteria for rating. RECOMMENDATIONS: Level A recommendations can be made for rotigotine, ropinirole, pramipexole, gabapentin enacarbil, gabapentin and pregabalin, which are all considered effective for the short-term treatment for RLS. However, for the long-term treatment for RLS, rotigotine is considered effective, gabapentin enacarbil is probably effective, and ropinirole, pramipexole and gabapentin are considered possibly effective. Cabergoline has according to our criteria a level A recommendation, but the taskforce cannot recommend this drug because of its serious adverse events.


Assuntos
Síndrome das Pernas Inquietas/terapia , Medicina Baseada em Evidências , Humanos
16.
BMC Neurol ; 11: 28, 2011 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-21352569

RESUMO

BACKGROUND: Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. METHODS: The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored task force consisting of experts and primary care practitioners. The task force sought to develop a better understanding of barriers to diagnosis in primary care practice and overcome these barriers with diagnostic and treatment algorithms. RESULTS: The barriers to diagnosis identified by the task force include the presentation of symptoms, the language used to describe them, the actual term "restless legs syndrome" and difficulties in the differential diagnosis of RLS. CONCLUSION: The EURLSSG task force reached a consensus and agreed on the diagnostic and treatment algorithms published here.


Assuntos
Algoritmos , Conferências de Consenso como Assunto , Atenção Primária à Saúde/métodos , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/tratamento farmacológico , Comitês Consultivos , Diagnóstico Diferencial , Tratamento Farmacológico , Europa (Continente) , Humanos , Inquéritos e Questionários
17.
Mov Disord ; 25(13): 2006-9, 2010 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-20669297

RESUMO

Thomas de Quincey, a British writer of 19th century, suffered insomnia from the age of 17 years. In his famous "Confessions of an English-Opium Eater" (1822), he described a symptomatology that could concord with restless legs syndrome long before he became addicted to opium. In this report, we analyze his clinical description and the circumstances leading to his opium addiction.


Assuntos
Pessoas Famosas , Transtornos Relacionados ao Uso de Opioides/história , Ópio , Síndrome das Pernas Inquietas/história , Inglaterra , História do Século XIX , Humanos , Masculino , Transtornos Relacionados ao Uso de Opioides/complicações , Publicações/história , Síndrome das Pernas Inquietas/etiologia , Autorrevelação
18.
Dev Med Child Neurol ; 52(9): 817-23, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20345957

RESUMO

AIM: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. METHOD: Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7 y 10 mo; range 2 y-31 y 10 mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. RESULTS: Approximately two-thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C-terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04-0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14-0.92). Factors that were associated with better hand function were lower Kerr scores for a 1-point increase in score (OR 0.77; 95% CI 0.69-0.86), higher WeeFIM scores for a 1-point increase in score (OR 1.08; 95% CI 1.04-1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02-73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. INTERPRETATION: Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.


Assuntos
Mãos , Atividade Motora , Síndrome de Rett/diagnóstico , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Estudos Transversais , Bases de Dados como Assunto , Feminino , Genótipo , Mãos/fisiologia , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Atividade Motora/fisiologia , Mutação , Fenótipo , Sistema de Registros , Síndrome de Rett/genética , Síndrome de Rett/fisiopatologia , Índice de Gravidade de Doença , Gravação em Vídeo , Caminhada , Adulto Jovem
19.
Sleep Med Rev ; 14(5): 339-46, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20219397

RESUMO

Dopaminergic agents are the first-line treatment of restless legs syndrome (RLS), and have been used for the treatment of this disorder since the 1980s. The major issue with this class of drugs is augmentation of RLS symptoms during treatment. The first report of augmentation found an occurrence among 73% of patients treated with levodopa. Subsequent studies have reported somewhat lower incidences, but augmentation remains a clinically significant issue with all dopaminergic agents. It was not until 2007 that an operational, empirical definition of augmentation (Max Planck Institute Criteria) was made. This late development and the fact that studies have not been specifically designed to assess augmentation, have made it particularly difficult to compare the incidence rates for the different RLS treatments. As the primary neural and molecular substrates underlying idiopathic RLS are not known, the pathophysiology of augmentation remains unclear, however there are several hypotheses that concern the role of dopaminergic hyperstimulation, of iron deficiency, the genetic component, the effect of a reduction in responsiveness of tubero-infundibular dopamine receptors, and the role of chronobiotic mechanisms. RLS is treated by maintaining low doses of dopaminergic agents and ensuring iron sufficiency. Non-dopaminergics and opiates can be used when patients experience augmentation with more than one dopaminergic agent.


Assuntos
Dopaminérgicos/uso terapêutico , Síndrome das Pernas Inquietas/tratamento farmacológico , Diagnóstico Diferencial , Dopaminérgicos/efeitos adversos , Humanos , Levodopa/efeitos adversos , Levodopa/uso terapêutico , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/fisiopatologia , Resultado do Tratamento
20.
Curr Treat Options Neurol ; 11(5): 327-32, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19744398

RESUMO

Augmentation is the main complication of long-term dopaminergic treatment of restless legs syndrome (RLS). Although augmentation was first described in 1996 and is characterized by an overall increase in severity of RLS symptoms (earlier onset of symptoms during the day, faster onset of symptoms when at rest, spreading of symptoms to the upper limbs and trunk, and shorter duration of the treatment effect), precise diagnostic criteria were not established until 2003. These criteria were updated in 2007 to form a new definition of augmentation based on multicenter studies. Augmentation should be differentiated from early morning rebound, natural progression of the disease, tolerance, and neuroleptic-induced akathisia. Treatment strategies will depend on the degree of clinical significance but will be based on the use of longer-acting drugs and a reduction or substitution of the dopaminergic agents. The most effective preventive measure is to keep the dose of the dopaminergic medication as low as possible, ensuring that it does not exceed the dose recommended by regulatory authorities. RLS augmentation needs to be treated only if it is clinically relevant-that is, if it has a significant impact on the patient's daily activities. Mild cases should be followed closely, however. In severe cases, a change of treatment (sometimes even within the same class of drugs) can be effective, although before taking this step, it should be verified that all factors that may affect augmentation (changes in lifestyle, iron deficiency, serotonin reuptake inhibitors) have been excluded.

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