RESUMEN
Objectives: This meta-analysis aims to synthesize the available data on the effectiveness of hamstring stretching exercises in relieving pain intensity and improving function for patients with low back pain. Methods: Google Scholars, PubMed, Embase, Cochrane, MEDLINE, CNKI, Wanfang, and VIP were searched from inception to August 2023. We included randomized controlled trials that investigated the effectiveness of hamstring stretching exercises in patients with low back pain. The primary outcomes assessed were pain intensity, hamstring muscle flexibility, and function. Study selection, data extraction, and assessment of risk of bias were performed independently by two reviewers. Results: Our searches retrieved 344 trials, of which 14 met the inclusion criteria for this review (n = 735 participants). The combined meta-analysis showed hamstring stretching resulted in lower pain scores (standardized mean difference = -0.72, 95% confidence interval: -1.35 to -0.09; I 2 = 89%, p = 0.03) in different categories of low back pain. Subgroup analysis showed that hamstring stretching led to a larger range of motion for cases of back pain with radiating pain (standardized mean difference = 2.39, 95% confidence interval: 1.76 to 3.02; I 2 = 0%, p < 0.001). The combined meta-analysis revealed that hamstring stretching resulted in lower Oswestry Disability Index scores in comparison to regular treatment, particularly in individuals suffering from low back pain across all subtypes (mean difference = -6.97, 95% confidence interval: -13.34 to -0.60; I 2 = 95%, p = 0.03). Conclusions: This meta-analysis demonstrates the effectiveness of hamstring stretching exercises in reducing pain intensity in various categories of low back pain and improving the straight leg raise in patients experiencing back pain with radiating pain. Additionally, it highlights the improvement in function for patients with back pain across all subtypes.
RESUMEN
Introduction: We conducted a twenty-year bibliometric analysis of scientific literature, focusing on the trends of The International Classification of Functioning, Disability and Health (ICF) use in health research.Methods: We retrieved 3'467 documents published between 2002 and 2022, sourced from the Web of Science Core Collection database. We used the Bibliometrix and VoSviewer tools for descriptive analyses and data visualization.Results: Our findings indicate a significant increase in ICF application since 2011, with an average annual growth rate of 13.19%. Prominent contributions were observed globally, with notable outputs from the U.S., Canada, Germany, the Netherlands, and Switzerland. The Ludwig Maximilian University Munich, Swiss Paraplegic Research, and McMaster University authored a quarter of the documents (24.6%). Collaboration networks of countries and institutions revealed robust partnerships, particularly between Germany and Switzerland. "Rehabilitation" was the most frequently occurring keyword, although a thematic shift towards epidemiology, aging, and health-related quality of life was observed post-2020. While rehabilitation remained the primary thematic focus, literature post-2020 highlighted epidemiology as a growing area of interest.Conclusions: A steady increase in ICF-based research mirrors the rising interest in a biopsychosocial and person-centered approach to healthcare. However, the literature is primarily produced by high-resource countries, with underrepresentation from low and middle-resource countries, suggesting an area of future research to address this discrepancy.
The International Classification of Functioning, Disability and Health (ICF) serves as a universal framework for describing functioning and disability.The increasing application of the ICF in rehabilitation research underscores its value in developing comprehensive, person-centered care plans.By integrating the ICF, rehabilitation programs can better address the multifaceted needs of patients, facilitating improved outcomes in participation and quality of life.The observed thematic shift towards aging and health-related quality of life post-2020 indicates the growing relevance of the ICF in managing the complex health challenges of an aging population.The study also suggests that expanding the ICF implementation in low- and middle-income countries could bridge existing disparities in rehabilitation services, promoting global health equity.
RESUMEN
PURPOSE: Previous studies exhibited differences in sensory processing, motor coordination, metacognitive executive functions (EF-MI), and sleep quality among adults with neurodevelopmental disorders (NDD). This study aims to find relationships between those abilities and organization-in-time, focusing on emotional responses after decreased organization abilities. MATERIALS AND METHODS: This is a secondary data analysis of a larger sample from three previous studies conducted in one laboratory. Data were collected from 290 adults; 149 with NDD and 141 sex- and age- (20-50 years) matched controls completed the Adolescent/Adult Sensory Profile, Adult Developmental Coordination Disorder, Adults Behavioral Rating Inventory of Executive Functions, Mini Sleep, and Time Organization and Participation questionnaires. Structural equation model (SEM) analysed relationships and variable prediction. RESULTS: Significant between-group differences were found for all variables; SEM indicated similar paths in both groups. Sensory processing affected EF-MI and sleep quality and significantly correlated with motor coordination, affecting EF-MI; EF-MI affected organization-in-time. Sleep quality significantly affected organization-in-time, affecting emotional responses. CONCLUSIONS: Sensory, motor, EF, and sleep differences were associated with decreased organization-in-time abilities of adults with NDD, adversely affecting their emotional well-being. Early detection of such differences and targeted interventions may improve daily functioning and life quality and prevent negative emotional implications.
Neurodevelopmental disorders (NDD) emerging early in development affect lifelong well-being, and personal, social, academic, and occupational function.Adults with NDD may experience reduced quality of life due to ineffective time organization and life management.Ineffective time organization and consequence negative emotional responses are tied with deficient sensory processing, motor coordination, metacognitive executive function abilities, and sleep quality.Early diagnosis of such deficiencies following by targeted intervention may enhance daily functioning, reduce emotional challenges, and improve overall life outcomes.
RESUMEN
BACKGROUND: Botulinum toxin (BTX) is an effective management method for spasticity in children with cerebral palsy (CP), but the short- medium- and long-term effects remain unclear. OBJECTIVE: The primary objective was to quantify the effects of BTX injections on upper limb spasticity over time in children with CP. The secondary objective was to evaluate efficacy according to the International Classification of Functioning, Disability, and Health-Children & Youth version framework. METHODS: We conducted a systematic review and meta-analysis of randomized controlled trials that included control/comparison groups treated with a placebo or other treatments. We searched CINAHL, Embase, PubMed, Scopus, Web of Science, and PsycINFO from their inception to April 2024. The pooled mean difference (MD) or standard mean difference (SMD) with 95 % CI was calculated using a random effects model at the short-term (up to 3 months), medium-term (3 to 6 months), and long-term (over 6 months). RESULTS: A total of 658 children with CP aged 1.8 to 19 years old in 12 eligible trials were involved. The primary outcome of the Melbourne Assessment percentile showed a significant increase in the medium- (MD = 2.63, 95 % CI 0.22 to 5.04, I² = 0 %) and long-term (MD = 4.72, 95 % CI 0.93 to 8.51, I² = 0 %) in favor of BTX. Pooled effects also showed that BTX significantly improved Modified Ashworth Scale scores in the short- (MD = -0.44, 95 % CI -0.88 to -0.01, I² = 88 %) and medium-term (MD = -0.20, 95 % CI -0.28 to -0.13, I² = 0 %), and individual goals and bimanual performance up to 6-months. No significantly higher risk of adverse events was observed with BTX. CONCLUSIONS AND IMPLICATIONS: BTX injections sustainably improved the quality of affected upper limb function and temporarily improved individual goals and bimanual performance in children with CP. Our findings cautiously support a time interval of 3 to 6 months between BTX injections in the upper limbs of children with CP. TRIAL REGISTRATION: This study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) (Registration ID: CRD42022323672).
RESUMEN
PURPOSE: A powerful aphorism states: "If I hadn't believed it, I wouldn't have seen it!" This challenging notion reminds us how strongly we are influenced by prevailing ideas, and how we interpret things according to current fashions and teachings. MATERIALS AND METHODS: In this paper we present and discuss contemporary perspectives concerning childhood-onset disability and the evolving nature of how people are thinking and acting. We illustrate these ideas by reminding readers of how we have all traditionally been trained and acculturated to think about many dimensions of neurodevelopmental disability ("What?"); reflect on the impact of these ways of thinking in terms of what we have conventionally "seen" and done ("So What?"); and contrast those traditions with contemporary concepts that we believe or know impact the field ("Now What?"). RESULTS: Many of the concepts discussed here will be familiar to readers. In taking this analytically critical perspective we aim to illustrate that by weaving these individual threads together we are able to create a coherent fabric that can serve children with childhood-onset NDD, their families, service providers, the community, and policy-makers. We do not purport to offer a comprehensive view of the whole field. CONCLUSIONS: We encourage readers to consider the integration of these new ways of thinking and acting in our still-evolving field of "childhood-onset disability".
21st-century thinking about childhood-onset neurodisability builds on WHO's ICF framework for health, expanding well beyond traditional primary biomedical foci on diagnosis and management and toward a focus on functioning and belonging.New emphases put family at the centre, attending to family voices and prioritizing family wellbeing as targets for intervention equal to a focus on the child.There is strong emerging evidence to support the value and impact of these broader approaches on overall family functioning and wellbeing.These developments are primarily conceptual rather than technical: they emphasize child and family development, parenting, promotion of functioning, and a life-course approach from the start of intervention.
RESUMEN
Neurodivergent individuals, including a range of conditions impacting neurological function, are at an increased likelihood of poor life outcomes, such as in functional adaptation, mental health, and well-being. Yet, many live meaningful and fulfilling lives. Resilience may provide some explanation for the heterogeneity in outcomes observed in neurodivergent populations. We conducted a scoping review embedded in a neurodiversity-affirmative approach to provide an understanding of resilience in neurodivergent populations. A total of 176 articles were included in this review and were synthesized using a two-phased process. First, findings were synthesized narratively to examine how resilience has been conceptualized and explored in neurodivergent populations. Second, to identify the bio-psycho-social factors important for resilience in neurodivergent individuals, we converted concepts identified in articles to the nomenclature of the World Health Organizations' International Classification of Functioning, Disability and Health (ICF) using a standardized linking process. We find considerable variability in how resilience is conceptualized and measured in neurodivergent populations. We identified 83 unique ICF categories representing resilience factors, of which only 20 appeared in more than 5% of the articles. Identified ICF categories highlight the importance of support systems such as families and friends, community participation and acceptance, and individual capabilities for resilience.
RESUMEN
The World Health Organization's International Classification of Functioning, Disability and Health (ICF), the international standard for the description of functioning and disability, completely ignores a specific form of accessible communication despite its potential to improve functioning and reduce disability: Easy Language, a form of standard language with substantially reduced linguistic complexity. Starting with a proposal for how and where Easy Language could be appropriately integrated into the ICF, the commentary then outlines the various benefits and opportunities for social policy that could be associated with doing so. It also notes several potential challenges involved in this process. If used correctly, the integration of Easy Language into the ICF could prove useful for both professional users of the ICF and Easy Language target groups.
RESUMEN
The International Classification of Function, Disability, and Health (ICF) is known to be a valuable classification model in interprofessional neurorehabilitation, as it can lead to more patient-centered and self-determined treatment. To acquire the competencies implementing the ICF in the field of neurorehabilitation, it is important to anchor essential skills in the basic training of healthcare professionals. The Institute of Physiotherapy at FH JOANNEUM in Graz/Austria developed a concept to help students learn the necessary skills for implementing the ICF in a structured way. In the area of neurorehabilitation, we linked the ICF model with the Clinical Reasoning Model (CR). Competences are acquired over six semesters. Besides the general topics relating to the ICF (such as history, intention, and language) and CR that are taught in the first year, we focus in the later semesters explicitly on transferring these skills to neurorehabilitation. Therefore, we use interprofessional group work and problem-based courses as essential didactic elements for this transfer of skills. This article aims to show how the ICF could be implemented in Bachelor's degree programs for physiotherapy as well as in other healthcare programs. The authors' experiences are described and some best practice examples when working with the ICF in this field are given.
RESUMEN
Aim: To support the achievement of life goals and social participation of persons with mental illness, based on the World Health Organization's International Classification of Functioning, Disability, and Health (ICF), we generated items, identified domains, and examined the content validity of the Comprehensive Assessment of Functioning for Mental Illness-Subjective Version (CAMI-S). The purpose was to assess patients' strengths and weaknesses by incorporating the patient and public involvement perspective. Methods: Focus group interviews on the items to be included were conducted with Group A. A draft scale was constructed by extracting articles mentioning factors for social participation and recovery for each ICF component from PubMed. Group B participants rated themselves using the draft and highlighted items they considered inappropriate. Experts then rated the importance of the items through the Delphi method. Lastly, Group C participants evaluated whether the draft scale would help in understanding their strengths and weaknesses. Results: The interviews revealed subjective experience items. The draft scale had 81 items (physical and mental functions, 10; activities, 23; participation, 24; environment, 12; individuals, six; and subjective experience, six). Through the Delphi method, the number of items was reduced to 34 in six domains. Most participants (N = 50) indicated that it helped them ascertain patients' strengths and weaknesses (mean = 2.11 ± .714). Completion time for the scale was 56 min, including the 60-item face sheet (20-110 min). Conclusion: The CAMI-S helped participants ascertain patients' strengths and weaknesses. Its reliability and validity will be verified through a large-scale survey in the future.
RESUMEN
PURPOSE: In the BigMove intervention, people with physical and mental health conditions assess their functioning, set goals, and define action plans to achieve their goals recorded in an e-health application using all categories of the International Classification of Functioning, Disability, and Health (ICF). This study investigates whether data from this application can provide insight into participants' self-perceived functioning, goals and action plans and observe changes over time. METHODS: Data from 446 participants were analysed with descriptive statistics to describe self-perceived functioning and the ICF categories related to the 15 most frequently chosen goals. Action plans were analysed using inductive analysis. Changes over time were investigated by comparing assessments before and after at least 4 months in the intervention. RESULTS: The data provided insight into the self-perceived functioning, goals and action plans. Also, changes over time were observed. Self-perceived functioning changed from being mainly negative before, to mainly positive after the intervention. While goals were mostly related to the same ICF categories, the action plans changed from more specific short-term to more general long-term plans. CONCLUSIONS: Our study demonstrates that all categories of the ICF can be used to record self-perceived functioning, goals and action plans and monitor changes over time.
The complete International Classification of Functioning, Disability, and Health (ICF) can provide a useful tool to record self-perceived functioning, goals, and action plans.Setting goals by using all ICF categories shows what is relevant to people themselves and can stimulate activities that foster functioning according to what people value.Assessments of self-perceived functioning, related goals, and action plans offer a novel approach to assessing health and comparing healthcare outcomes.
RESUMEN
Immunodeficiency-Centromeric instability-Facial dysmorphism (ICF) syndrome is an inborn error of immunity characterized by progressive immune dysfunction and multi-organ disease usually treated with antimicrobial prophylaxis and immunoglobulin substitution. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment, but data on outcome are scarce. We provide a detailed description of disease characteristics and HSCT outcome in an international cohort of ICF syndrome patients. Eighteen patients (including all four genotypes) were enrolled. Main HSCT indications were infections (83%), enteropathy/failure to thrive (56%), immune dysregulation (22%) and myelodysplasia/haematological malignancy (17%). Two patients underwent pre-emptive HSCT after early diagnosis. Patients were transplanted between 2003-2021, at median age 4.3 years (range 0.5-19), after myeloablative or reduced-intensity conditioning, from matched sibling or matched family donors, matched unrelated or mismatched donors in 39%, 50% and 12% of cases respectively. Overall survival was 83% (all deaths occurred within the first 5 months post-HSCT; mean follow-up 54 months (range 1-185)). Acute GvHD occurred in 35% of patients, severe (grade III) in two (12%), while none developed chronic GvHD. At latest follow-up (median 2.2 years (range 0.1-14)), complete donor chimerism was achieved in 15/17 surviving patients. All survivors demonstrated normalized T and B cell numbers. Immunoglobulin substitution independence was achieved in all but two patients. All survivors recovered from pre-transplant infections, enteropathy/failure to thrive and immune dysregulation. All three patients transplanted at young age (≤ 3 years), after early diagnosis, survived. The favourable clinical and immunological HSCT outcome in this cohort of patients supports the timely use of this curative treatment in ICF syndrome.
Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Trasplante Homólogo , Humanos , Trasplante de Células Madre Hematopoyéticas/métodos , Preescolar , Niño , Masculino , Femenino , Lactante , Adolescente , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/diagnóstico , Adulto Joven , Síndromes de Inmunodeficiencia/terapia , Síndromes de Inmunodeficiencia/diagnóstico , Acondicionamiento Pretrasplante/métodos , Resultado del Tratamiento , Enfermedades de Inmunodeficiencia Primaria/terapia , Enfermedades de Inmunodeficiencia Primaria/diagnósticoRESUMEN
BACKGROUND: Effective rehabilitation of peripheral facial paralysis (PFP) requires reliable assessment tools. This systematic review aimed to identify and validate instruments used in PFP rehabilitation, categorizing them according to the ICF framework. METHODS: A comprehensive search was conducted across PubMed, Cinahl, Web of Science, and Scopus up to April 2024. Observational analytical studies and one non-randomized controlled trial that validated tools for assessing PFP were included. RESULTS: Thirty-three studies were included, covering twenty different tools. Seventeen tools were related to the "Structure and Function" domain, while three addressed "Activity and Participation." The Sunnybrook and House-Brackmann scales were the most extensively studied. The Sunnybrook scale exhibited excellent intra- and inter-rater reproducibility and internal validity, making it suitable for clinical use. The House-Brackmann scale was user-friendly but had limitations in reproducibility and sensitivity to subtle differences, which newer versions like the FNGS 2.0 aimed to address. The FAME scale showed promise by reducing subjective scoring. Computerized tools, such as eFACE and A-FPG, and instruments for lip asymmetry and ocular involvement demonstrated potential but require further validation. The Facial Disability Index and the FaCE Scale were validated for assessing disability and participation restrictions. CONCLUSION: This review identified several validated tools for PFP assessment, with the Sunnybrook and House-Brackmann scales being the most reliable. While emerging tools and computerized programs show promise, they need further validation for routine clinical use. Integrating validated tools into clinical practice is essential for comprehensive assessment and effective rehabilitation of PFP.
RESUMEN
Background: The current lower limb robotic exoskeleton training (LRET) for treating and managing stroke patients remains a huge challenge. Comprehensive ICF analysis and informative treatment options are needed. This review aims to analyze LRET' s efficacy for stroke patients, based on ICF, and explore the impact of intervention intensities, devices, and stroke phases. Methods: We searched Web of Science, PubMed, and The Cochrane Library for RCTs on LRET for stroke patients. Two authors reviewed studies, extracted data, and assessed quality and bias. Standardized protocols were used. PEDro and ROB2 were employed for quality assessment. All analyses were done with RevMan 5.4. Results: Thirty-four randomized controlled trials (1,166 participants) were included. For function, LRET significantly improved motor control (MD = 1.15, 95%CI = 0.29-2.01, p = 0.009, FMA-LE), and gait parameters (MD = 0.09, 95%CI = 0.03-0.16, p = 0.004, Instrumented Gait Velocity; MD = 0.06, 95%CI = 0.02-0.09, p = 0.002, Step length; MD = 4.48, 95%CI = 0.32-8.65, p = 0.04, Cadence) compared with conventional rehabilitation. For activity, LRET significantly improved walking independence (MD = 0.25, 95%CI = 0.02-0.48, p = 0.03, FAC), Gait Velocity (MD = 0.07, 95%CI = 0.03-0.11, p = 0.001) and balance (MD = 2.34, 95%CI = 0.21-4.47, p = 0.03, BBS). For participation, social participation (MD = 0.12, 95%CI = 0.03-0.21, p = 0.01, EQ-5D) was superior to conventional rehabilitation. Based on subgroup analyses, LRET improved motor control (MD = 1.37, 95%CI = 0.47-2.27, p = 0.003, FMA-LE), gait parameters (MD = 0.08, 95%CI = 0.02-0.14, p = 0.006, Step length), Gait Velocity (MD = 0.11, 95%CI = 0.03-0.19, p = 0.005) and activities of daily living (MD = 2.77, 95%CI = 1.37-4.16, p = 0.0001, BI) for the subacute patients, while no significant improvement for the chronic patients. For exoskeleton devices, treadmill-based exoskeletons showed significant superiority for balance (MD = 4.81, 95%CI = 3.10-6.52, p < 0.00001, BBS) and activities of daily living (MD = 2.67, 95%CI = 1.25-4.09, p = 0.00002, BI), while Over-ground exoskeletons was more effective for gait parameters (MD = 0.05, 95%CI = 0.02-0.08, p = 0.0009, Step length; MD = 6.60, 95%CI = 2.06-11.15, p = 0.004, Cadence) and walking independence (MD = 0.29, 95%CI = 0.14-0.44, p = 0.0002, FAC). Depending on the training regimen, better results may be achieved with daily training intensities of 45-60 min and weekly training intensities of 3 h or more. Conclusion: These findings offer insights for healthcare professionals to make effective LRET choices based on stroke patient needs though uncertainties remain. Particularly, the assessment of ICF participation levels and the design of time-intensive training deserve further study. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO, Unique Identifier: CRD42024501750.
RESUMEN
PURPOSE: To describe and analyze the methodological characteristics and quality of cross-sectional studies that have validated an ICF-CS. MATERIALS AND METHODS: A systematic review was conducted to identify empirical studies published in English that validated any ICF-CS using a cross-sectional design. Databases searched included Web of Science, Scopus, CINAHL, PubMed, Embase, and PsycINFO. The search was conducted in November 2022 with an update in October 2023. Two independent reviewers coded studies that met the inclusion criteria and assessed their methodological quality and risk of bias using the AXIS tool. Synthesis was performed by calculating frequencies and percentages. RESULTS: 87 articles validating 24 ICF-CSs were analyzed. Most articles showed strengths in consistency between study objectives and the outcome variables measured. However, a large majority did not report sample size calculation (up to 94.2% in Delphi studies), and few validation studies were conducted in the WHO regions of Africa and the Eastern Mediterranean. CONCLUSIONS: The quality of cross-sectional studies validating ICF-CSs was satisfactory, although several articles did not describe aspects such as sample size calculation. Validity evidence for ICF-CS studies could be improved by conducting more multicenter studies, replicating ICF-CS validation studies in different WHO regions, and through synthesis of existing research.
Cross-sectional validation studies of ICF-CSs have satisfactory quality, supporting the use of the CSs in clinical rehabilitation settings similar to those evaluated here.Additional validation studies are required for ICF-CSs that have not yet been validated or for which validity evidence is limited.The methodological findings of this review constitute a roadmap that could guide the development and improve the quality of future ICF-CS validation studies.Knowing which ICF-CSs are validated through cross-sectional designs is useful for planning and designing interventions and instrument development.
RESUMEN
This paper presents an effort by the World Health Organization (WHO) to integrate the reference classifications of the Family of International Classifications (ICD, ICF, and ICHI) into a unified digital framework. The integration was accomplished via an expanded Content Model and a single Foundation that hosts all entities from these classifications, allowing the traditional use cases of individual classifications to be retained while enhancing their combined use. The harmonized WHO-FIC Content Model and the unified Foundation has streamlined the content management, enhanced the web-based tool functionalities, and provided opportunities for linkage with external terminologies and ontologies. This integration promises reduced maintenance cost, seamless joint application, complete representation of health-related concepts while enabling better interoperability with other informatics infrastructures.
Asunto(s)
Clasificación Internacional de Enfermedades , Organización Mundial de la Salud , Vocabulario Controlado , Humanos , Terminología como Asunto , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la SaludRESUMEN
Introduction: The World Health Organization (WHO) adopted the International Classification of Functioning, Disability and Health (ICF) in 2001. The classification provides a framework for the standardised description of functioning and disability using health and health-related domains. The implementation of the ICF is diverse and has a wide range of applications. A thorough understanding of the ICF classification is essential for successful implementation. We developed and delivered an in-person interactive ICF training to facilitate the implementation of the ICF in Germany. The aim of this paper is to present the evaluation of this in-person interactive ICF training. Methods: The evaluation was conducted with questionnaires assessing the organisation of the workshops and the knowledge gained during the training using Likert scaled questions. Open-ended questions were used to gather feedback on the further development of the ICF training. Data were analysed descriptively using absolute and relative frequencies. Open-ended questions were analysed qualitatively. Results: Between 2017 and mid-2020, a team of trainers at the Chair of Public Health and Health Services Research (IBE) at LMU Munich organised 12 in-person interactive ICF trainings with a total of 191 participants. In total 151 participants filled in the questionnaires (response rate: 79.1%). The participants` professional backgrounds were primarily in the social sector (n = 76; 50.3%), clinical sector (n = 36; 23.8%), and administrative sector (n = 31; 20.5%). 42.4% of the participants strongly agreed that the content was relevant to their work, while an additional 51.0% almost agreed. According to this evaluation, 82.1% of the participants would recommend the training to others. Discussion: A number of constructive suggestions and proposals were made for the further development of the training programme. These mainly related to the content of the training, such as the themes of children and youth and integration assistance.
RESUMEN
The Dysphagia Outcome and Severity Scale is used both clinically and within dysphagia research, internationally. Although it was developed using videofluoroscopic swallowing studies, it is frequently used to rate Flexible Endoscopic Evaluations of Swallowing. The validity and reliability of DOSS-use with FEES, however, has not previously been evaluated. This study investigated the validity and rater reliability of clinicians using DOSS to rate FEES. Eleven Speech-Language Pathologists (SLPs) with varied dysphagia experience were recruited to review and DOSS-rate 17 soundless FEES (198 bolus swallows) recorded from 11 heterogenic dysphagic patients (2 cases with repeat FEES) and 4 healthy adults. The SLPs DOSS-ratings were compared against the initial comprehensive dysphagia evaluation (including patient diagnosis, interview, cranial nerve and complete FEES assessment) with Functional Oral Intake Scale (FOIS) and DOSS outcome measures. The SLPs were blinded to patient details and comprehensive dysphagia examination. Re-randomised rating of FEES cases occurred two weeks later (intra rater reliability). Criterion validity for DOSS-ratings (compared against comprehensive dysphagia evaluation with FOIS and DOSS) were strong-very strong (rs = 0.858 and 0.936 respectively; p < 0.001). Inter rater reliability demonstrated high agreement (α = 0.891), also intra rater reliability demonstrated almost perfect agreement (Kw = 0.945). This study's results, with strong-very strong criterion validity and high rater reliability by SLPs, adds to the evidence for DOSS-use with FEES. Future validity research comparing DOSS with both FEES and VFSS simultaneously is recommended.
RESUMEN
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a rare genetic disorder characterized by variable immunodeficiency. More than half of the affected individuals show mild to severe intellectual disability at early onset. This disorder is genetically heterogeneous and ZBTB24 is the causative gene of the subtype 2, accounting for about 30% of the ICF cases. ZBTB24 is a multifaceted transcription factor belonging to the Zinc-finger and BTB domain-containing protein family, which are key regulators of developmental processes. Aberrant DNA methylation is the main molecular hallmark of ICF syndrome. The functional link between ZBTB24 deficiency and DNA methylation errors is still elusive. Here, we generated a novel ICF2 disease model by deriving induced pluripotent stem cells (iPSCs) from peripheral CD34+-blood cells of a patient homozygous for the p.Cys408Gly mutation, the most frequent missense mutation in ICF2 patients and which is associated with a broad clinical spectrum. The mutation affects a conserved cysteine of the ZBTB24 zinc-finger domain, perturbing its function as transcriptional activator. ICF2-iPSCs recapitulate the methylation defects associated with ZBTB24 deficiency, including centromeric hypomethylation. We validated that the mutated ZBTB24 protein loses its ability to directly activate expression of CDCA7 and other target genes in the patient-derived iPSCs. Upon hematopoietic differentiation, ICF2-iPSCs showed decreased vitality and a lower percentage of CD34+/CD43+/CD45+ progenitors. Overall, the ICF2-iPSC model is highly relevant to explore the role of ZBTB24 in DNA methylation homeostasis and provides a tool to investigate the early molecular events linking ZBTB24 deficiency to the ICF2 clinical phenotype.
Asunto(s)
Células Madre Pluripotentes Inducidas , Fenotipo , Enfermedades de Inmunodeficiencia Primaria , Proteínas Represoras , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Enfermedades de Inmunodeficiencia Primaria/genética , Proteínas Represoras/genética , Proteínas Represoras/deficiencia , Metilación de ADN , Síndromes de Inmunodeficiencia/genética , Masculino , Mutación , Femenino , Cara/anomalías , Proteínas NuclearesRESUMEN
The use of a common language in interprofessional collaboration is essential. The World Health Organization's International Classification of Functioning, Disability and Health (ICF) has been identified as a unifying framework for interprofessional collaboration and the identification of client needs. Higher education institutions (HEIs) offer ICF framework education to students but is it enough to enable graduated professionals to implement the ICF in clinical work? In our experience, the ICF education provided by HEIs does not meet the requirements of clinical practice, which might be due to gaps in teaching ICF to students (education) and specific requirements for teaching ICF to professionals already working in rehabilitation (training). This paper discusses the need for the ICF training in practice and ways to address it. Although many rehabilitation center professionals had previously received ICF education provided by the HEIs, the rehabilitation centers felt the need to develop their own practical training materials that could be applied to their own environment. Overall, 18 different ICF-based materials were developed during the Erasmus+ project called INPRO to promote person-centered and interprofessional practice in the rehabilitation centers. The practical training using real cases was considered valuable. It could be further developed in cooperation with HEIs and vice versa. It could also be used to teach students, i.e., future colleagues. To deepen and broaden the integration of the different materials based on the ICF, it is important to continue the interactive discussion between HEIs and clinical practice, and between management and its staff.
RESUMEN
INTRODUCTION: The COVID-19 pandemic has led to approximately 3.5 million cases in Romania, causing systemic inflammation and over 200 symptoms affecting various body systems. This complexity has challenged rehabilitation systems, necessitating personalized plans tailored to each patient's illness stage and impairment level. The ISPRM-developed ClinFIT COVID-19 instrument, aligned with the ICF categories, assists in assessing patients during acute, post-acute, and long-term phases. OBJECTIVE: This study aimed to evaluate and assess functional impairments in post-COVID-19 patients in Romania, with a secondary goal of generating rehabilitation directions. METHODS: Data were collected from patients at two Bucharest medical centers, including those with persistent symptoms post-acute phase. Participants were assessed using the adapted ClinFIT COVID-19 instrument, and descriptive statistics were applied. CONCLUSIONS: Findings revealed diverse functional impairments in physical, psychological, and social domains among post-COVID-19 patients, with severe impairments more common in those with long-term COVID-19. Complete impairment in complex movement and paid work was noted, affecting one-third of salaried employees and forcing some to retire. In the acute phase, the most frequent functional impairments were sleep, attention, pain sensation, and exercise tolerance functions. In contrast, the most severely affected functions were exercise tolerance and mobility joint functions. Age did not positively correlate with any of the analyzed functions. In the post-acute phase, sleep, energy, and drive functions remained the most frequently affected functions, while the most severely affected was, by far, the moving around function. In the post-acute period, respiratory and respiratory muscle functions strongly correlated with all tasks related to physical activity. In the long COVID-19 phase, remunerative employment was the most severely affected function, while attention functions remained the most frequently affected, similar to the acute phase. The ClinFIT COVID-19 instrument effectively captured these impairments, underscoring the need for comprehensive rehabilitation strategies.