Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature research, there are no studies on transcription factor and cytokine expressions of helper T cell subsets in ICF syndrome. In the study; Th1 (TBET, STAT1, STAT4), Th2 (GATA3, STAT6), Th17 (RORgt, STAT3), Treg (FoxP3, STAT5) transcription factors and the major cytokines of these cells (Th1; IFNG, Th2; IL4, Th17; IL17A-21-22, Treg; IL10, TGFß) expressions were aimed to be evaluated by qRT-PCR. Patients (ICF3: three patients; ICF2: two patients), six heterozygous individual and five healthy controls were included in the study. All patients had hypogammaglobulinemia. Except for the CD19 cells of P2 from patients diagnosed with ICF3, the CD3, CD4, CD8, and CD19 cells in the other ICF3 patients were normal. However, the rates of these cells were low in patients with ICF2 syndrome. Factors belonging to patients' Th1, Th17 and Treg cells were significantly lower than the control. Additionally, novel mutation was detected in ZBTB24 gene (c.1121-2 A > T). Our study is the first molecular study on Th cell subsets in patients with ICF syndrome and a new mutation that causes ICF2 syndrome has been identified.

The ICF2 gene Zbtb24 specifically regulates the differentiation of B1 cells via promoting heme synthesis.

BACKGROUND: Loss-of-function mutations of ZBTB24 cause immunodeficiency, centromeric instability, and facial anomalies syndrome 2 (ICF2). ICF2 is a rare autosomal recessive disorder with immunological defects in serum antibodies and circulating memory B cells, resulting in recurrent and sometimes fatal respiratory and gastrointestinal infections. The genotype-phenotype correlation in patients with ICF2 indicates an essential role of ZBTB24 in the terminal differentiation of B cells. METHODS: We used the clustered regularly interspaced short palindromic repeats (CRISPER)/Cas9 technology to generate B cell specific Zbtb24-deficient mice and verified the deletion specificity and efficiency by quantitative polymerase chain reaction (Q-PCR) and western blotting analyses in fluorescence-activated cell sorting (FACS)-sorted cells. The development, phenotype of B cells and in vivo responses to T cell dependent or independent antigens post immunization were analyzed by flow cytometry and enzyme-linked immunosorbent assay (ELISA). Adoptive transfer experiment in combination with in vitro cultures of FACS-purified B cells and RNA-Seq analysis were utilized to specifically determine the impact of Zbtb24 on B cell biology as well as the underlying mechanisms. RESULTS: Zbtb24 is dispensable for B cell development and maintenance in naive mice. Surprisingly, B cell specific deletion of Zbtb24 does not evidently compromise germinal center reactions and the resulting primary and secondary antibody responses induced by T cell dependent antigens (TD-Ags), but significantly inhibits T cell independent antigen-elicited antibody productions in vivo. At the cellular level, Zbtb24-deficiency specifically impedes the plasma cell differentiation of B1 cells without impairing their survival, activation and proliferation in vitro. Mechanistically, Zbtb24-ablation attenuates heme biosynthesis partially through mTORC1 in B1 cells, and addition of exogenous hemin abrogates the differentiation defects of Zbtb24-null B1 cells. CONCLUSIONS: Zbtb24 seems to regulate antibody responses against TD-Ags B cell extrinsically, but it specifically promotes the plasma cell differentiation of B1 cells via heme synthesis in mice. Our study also suggests that defected B1 functions contribute to recurrent infections in patients with ICF2.

Examining the overlap between tinnitus and depression questionnaires-protocol for an ICF based content analysis.

Introduction: Tinnitus is a common phenomenon with an estimated prevalence of 14.4% in the adult population. The experienced severity of tinnitus varies significantly among this population. Psychological factors have been identified as major contributors to this perceived severity, and numerous studies have demonstrated a correlation between symptoms of depression and tinnitus severity. However, the assessment of tinnitus severity and depressive symptoms often relies on self-report questionnaires, which show content overlap. This can pose challenges in distinguishing both conditions and interpreting their relationship. To address these challenges, the proposed study aims to examine the overlap between tinnitus and depressive symptom questionnaires by analyzing their content based on the International Classification of Functioning, Disability and Health (ICF) framework. Methods and analysis: Six validated, multi-item, self-report questionnaires measuring perceived tinnitus severity (THI, TQ, mTQ, THQ, TRQ, TFI) and seven validated, multi-item, self-report, depressive symptom questionnaires (BDI-II, HADS-D, SDS, PHQ-9, CES-D, SCL-90-R depression subscale, DASS-42 depression subscale) will be included in the content analysis. The content of all items of these questionnaires will be linked to ICF categories and item overlap between the tinnitus and depressive symptom questionnaires will be analyzed. Discussion: By exploring the overlap between depression and tinnitus questionnaires, this study seeks to gain a better understanding of the relationship between tinnitus and depression, by distinguishing between shared content and independent constructs of symptom scores and shedding light on the factors influencing their measured severity. Ethics and dissemination: Ethical approval is not required for this study, due to the characteristics of the study design. Findings will be disseminated through peer-reviewed open access publication and scientific conferences.

ICF-based hearing and functioning assessment: validation and research outcomes of utilizing the HEAR-COMMAND tool for patients with mild to moderately severe hearing loss and individuals with normal hearing.

Objective: Current clinical assessments for Hearing Loss (HL) are often limited to controlled laboratory settings in which a narrow spectrum of hearing difficulties can be assessed. A majority of the daily life challenges caused by HL cannot be measured in clinical methodologies. To screen the individuals' needs and limitations, a questionnaire named the HEAR-COMMAND tool was developed and qualitatively validated through an international collaboration, aligning with the World Health Organization's International Classification of Functioning, Disability, and Health Framework (ICF) Core Sets for Hearing Loss. The tool empowers healthcare professionals (HCPs) to integrate the ICF framework into patient assessments and patient-reported outcomes (PRO) in clinical and non-clinical settings. The aim is to provide a general foundation and starting point for future applications in various areas including ENT and hearing acoustics. The outcome can be employed to define and support rehabilitation in an evidence-based manner. This article presents the validation and research outcomes of using the tool for individuals with mild to moderately severe HL in contrast to normal-hearing individuals. Design: Using a cross-sectional multicenter study, the tool was distributed among 215 participants in Germany, the USA, and Egypt, filled in German, English, or Arabic. Three outcome scores and the corresponding disability degree were defined: hearing-related, non-hearing-related, and speech-perception scores. The content and construct validation were conducted, and the tool's internal consistency was assessed. Results: The extracted constructs included "Auditory processing functionality", "Sound quality compatibility", "Listening and communication functionality", "Interpersonal interaction functionality and infrastructure accessibility", "Social determinants and infrastructure compatibility", "Other sensory integration functionality", and "Cognitive functionality". Regarding content validity, it was demonstrated that normal-hearing participants differed significantly from individuals with HL in the hearing-related and speech-perception scores. The reliability assessment showed a high internal consistency (Cronbach's alpha = 0.9). Conclusion: The outcome demonstrated the HEAR-COMMAND tool's high content and construct validity. The tool can effectively represent the patient's perspective of HL and hearing-related functioning and enhance the effectiveness of the treatment plans and rehabilitation. The broad range of targeted concepts provides a unique overview of daily life hearing difficulties and their impact on the patient's functioning and quality of life.

Understanding the implications of hand impairments in light of the International Classification of Function model.

BACKGROUND: Incorporating an occupation-based assessment along with or in place of an assessment of body functions and structures is not performed routinely in hand therapy practice. PURPOSE: (a) Explore correlations between body functions, activities and participation (A&P), and quality of life (QOL); (b) assess the extent to which personal factors and body functions contribute to variations in A&P and QOL; (c) compare the QOL of individuals with and without hand impairment (HI). STUDY DESIGN: Cross-sectional. METHODS: Seventy-seven patients (Mean age=43.70 SD=17.56; 47 males and 30 females) with chronic and acute hand impairment were recruited from two hand clinics and matched with healthy participants. Assessments were administered to participants in their first visit to the hand clinic. QOL was measured with the World Health Organization QOL questionnaire; A&P with the Disabilities of the Arm Shoulder and Hand (DASH) questionnaire; pain with the Patient-Rated Wrist/Hand Evaluation; hand function with The Functional Dexterity Test, Jamar Dynamometer and Pinch Gauge. RESULTS: Significant correlations were found between QOL and A&P, dexterity, and pain, as well as between A&P and hand strength and pain. Personal factors, hand function, and pain collectively explained 28.9% of QOL variance and 61.4% of A&P variance. Pain emerged as the sole significant contributor to QOL variance, while both hand function and pain significantly influenced A&P variance. Comparisons between the study group and controls highlighted significant differences in QOL domains, with the HI group reporting lower perceived QOL in physical, social, and environmental domains. CONCLUSION: The significance of adopting a comprehensive approach in HI intervention was highlighted. A complex interplay of factors across different levels of the International Classification of Functioning, Disability and Health (ICF) framework imply that clinicians should avoid fixating exclusively on isolated factors or specific domains.

Overview of Available Functioning Data in Switzerland: Supporting the Use of Functioning as a Health Indicator Alongside Mortality and Morbidity.

Objectives: To identify official sources that routinely collect data on functioning in Switzerland, to provide an overview of the existing data and its comparability, and to assess the extent to which the data is suitable for developing a functioning metric and indicator. Methods: Data sources were identified through an iterative search. Standardized rules were applied to map the functioning information assessed by the sources using a current WHO functioning and disability survey as a reference framework for the content comparison. Results: Four sources were identified: the Swiss Survey of Health, Ageing and Retirement in Europe (SHARE), the Swiss Health Survey (SHS), the Lausanne cohort 65+ (Lc65+), and the Swiss Household Panel (SHP). All tools addressed sleep functions, energy level, emotional functions, and sensation of pain. Additionally, nine functioning categories were common across three sources. Conclusion: Population data sources in Switzerland routinely collect comparable functioning data, which can serve as the basis for creating a functioning indicator. Among others, this indicator is relevant to complement mortality and morbidity data and to support both the estimation of rehabilitation and long-term care needs.

ICF in Bachelor degree programs-the implementation of the ICF in the clinical reasoning process of physical therapists for neurological patients-optimizing the health curriculum for comprehensive patient care.

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.

Beyond the smile: a systematic review of diagnostic tools for peripheral facial paralysis.

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.

Resilience in the face of neurodivergence: A scoping review of resilience and factors promoting positive outcomes.

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.

Linking Health Terminologies: A Unified Approach to the WHO Family of International Classifications.

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.

Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.

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.

Self-perceived functioning, goals and action plans: an evaluation of an ICF-based E-health application in an intervention for people with a combination of mental and physical health conditions.

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.

Two decades of the International Classification of Functioning, Disability and Health (ICF) in health research: a bibliometric analysis.

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.

The effects of hamstring stretching exercises on pain intensity and function in low back pain patients: A systematic review with meta-analysis of randomized controlled trials.

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.

Predicting emotional consequences of disorganization among adults with neurodevelopmental disorders: a structural equation model.

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.

Short- medium- and long-term effects of botulinum toxin on upper limb spasticity in children with cerebral palsy: A meta-analysis of randomized controlled trials.

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).

Perspectives in childhood-onset disabilities: integrating 21st-Century concepts to expand our horizons.

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.

Effect of robotic exoskeleton training on lower limb function, activity and participation in stroke patients: a systematic review and meta-analysis of randomized controlled trials.

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.

Incorporating Easy Language in the ICF: Benefits, opportunities, and challenges.

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.

Examining the content validity of the Comprehensive Assessment of Functioning for Mental Illness-Subjective Version (CAMI-S) with reference to the framework of the International Classification of Functioning, Disability, and Health (ICF).

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.