The United Nations' Sustainable Development Goals (SDGs) require population-based data on children with disabilities to inform global policies and intervention programs. We set out to compare the ...prevalence estimates of disabilities among children and adolescents younger than 20 years as reported by the world's leading organizations for global health statistics.
We purposively searched the disability reports and databases of the United Nations Children's Fund (UNICEF), the World Health Organization (WHO), the World Bank and the Global Burden of Diseases (GBD) Study. We analyzed the latest disability data reported by these organizations since 2015. We examined the methodologies adopted in generating the reported prevalence estimates and evaluated the degree of agreement among the data sources using Welch's test of statistical difference, and the two one-sided
test (TOST) for statistical equivalence.
Only UNICEF and GBD provided the most comprehensive prevalence estimates of disabilities in children and adolescents. Globally, UNICEF estimated that 28.9 million (4.3%) children aged 0-4 years, 207.4 million (12.5%) children aged 5-17 years and 236.4 million (10.1%) children aged 0-17 years have moderate-to-severe disabilities based on household surveys of child functional status. Using the UNICEF estimated prevalence of 10.1%, approximately 266 million children aged 0-19 years are expected to have moderate-to-severe disabilities. In contrast, GBD 2019 estimated that 49.8 million (7.5%) children aged under 5 years, 241.5 million (12.6%) children aged 5-19 years and 291.3 million (11.3%) children younger than 20 years have mild-to-severe disabilities. In both databases, Sub-Saharan Africa and South Asia accounted for more than half of children with disabilities. A comparison of the UNICEF and GBD estimates showed that the overall mean prevalence estimates for children under 5 years were statistically different and not statistically equivalent based on ±3 percentage-point margin. However, the prevalence estimates for children 5-19 years and < 20 years were not statistically different and were statistically equivalent.
Prevalence estimates of disabilities among children and adolescents generated using either functional approach or statistical modeling appear to be comparable and complementary. Improved alignment of the age-groups, thresholds of disability and the estimation process across databases, particularly among children under 5 years should be considered. Children and adolescents with disabilities will be well-served by a variety of complementary data sources to optimize their health and well-being as envisioned in the SDGs.
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome, a rare autosomal recessive disorder, manifests with hypoglobulinemia and chromosomal instability accompanied by DNA ...hypomethylation. Pathological variants in the
,
,
, or
genes underlie its etiology. Activated lymphocytes from patients often display distinctive multiradial chromosomes fused via pericentromeric regions. Recent studies have provided deeper insights into how pathological variants in ICF-related proteins cause DNA hypomethylation and chromosome instability. However, the understanding of the molecular pathogenesis underlying immunodeficiency is still in its nascent stages. In the past half-decade, the roles of CDCA7, HELLS, and ZBTB24 in classical non-homologous end joining during double-strand DNA break repair and immunoglobulin class-switch recombination (CSR) have been unveiled. Nevertheless, given the decreased all classes of immunoglobulins in most patients, CSR deficiency alone cannot fully account for the immunodeficiency. The latest finding showing dysregulation of immunoglobulin signaling may provide a clue to understanding the immunodeficiency mechanism. While less common, a subgroup of patients exhibits T-cell abnormalities alongside B-cell anomalies, including reduced regulatory T-cells and increased effector memory T- and follicular helper T-cells. The dysregulation of immunoglobulin signaling in B-cells, the imbalance in T-cell subsets, and/or satellite RNA-mediated activation of innate immune response potentially explain autoimmune manifestations in a subset of patients. These findings emphasize the pivotal roles of ICF-related proteins in both B- and T-cell functions. ICF syndrome studies have illuminated many fundamental mechanisms. Further investigations will certainly continue to unveil additional mechanisms and their interplay.
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by ...mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening hypogammaglobulinemia phenotype. Here, we show that mice deficient in Zbtb24 in the hematopoietic lineage recapitulate the major clinical features of patients with ICF syndrome. Specifically, Vav-Cre-mediated ablation of Zbtb24 does not affect lymphocyte development but results in reduced plasma cells and low levels of IgM, IgG1, and IgA. Zbtb24-deficient mice are hyper and hypo-responsive to T-dependent and T-independent type 2 antigens, respectively, and marginal zone B-cell activation is impaired. Mechanistically, Zbtb24-deficient B cells show severe loss of DNA methylation in the promoter region of Il5ra (interleukin-5 receptor subunit alpha), and Il5ra derepression leads to elevated CD19 phosphorylation. Heterozygous disruption of Cd19 can revert the hypogammaglobulinemia phenotype of Zbtb24-deficient mice. Our results suggest the potential role of enhanced CD19 activity in immunodeficiency in ICF syndrome.
The World Health Organization's (WHO) paradigm shift, implied by the launch of the International Classification of Functioning, Disability and Health (ICF), is inextricably entwined with the ...emergence of rehabilitation as a key health strategy of the 21st century. To enable health systems to scale up rehabilitation we must spearhead the implementation of the ICF in rehabilitation towards its system-wide implementation in the healthcare system at large. In this essay, based on the Olle Höök lecture 20151, it is argued that the launch of the ICF in 2001 represents a paradigm shift, as it has enabled the WHO to more comprehensively act on its mandate and has guided WHO policies to shape the health system in response to population functioning needs. It is shown that this paradigm shift has important implications for rehabilitation, including its conceptualization and scientific methods. A prerequisite for the system-wide implementation of the ICF in clinical practice, policy, and research, is the availability of practical tools that allow for the universal and standardized description of functioning. Finally, some reflections are presented on how we may foster the system-wide implementation of the ICF by applying approaches from the implementation sciences.
Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, ...psychological, and social functioning in the daily lives of adult persons with congenital muscle disorders, we designed a survey using items primarily from the Patient Reported Outcomes Measurement Information System, PROMISR, and conducted a pilot study in patients with NM and NMr in Finland. The items were linked to International Classification of Functioning, Disability and Health (ICF) categories. In total, 20 (62.5%) out of 32 invited persons resident in Finland participated in the study; 12 had NM and 8 NMr, 15 were women and 5 men aged 19-75 years. Sixteen (80%) were ambulatory and 4 (20%) NM patients used wheelchairs. The results from the PROMIS measuring system and ICF categories both indicated that non-ambulatory patients of this study faced more challenges in all areas of functioning than ambulatory ones, but the differences were smaller in the domains measuring psychological and social functioning than in physical functioning. In addition, the COVID-19 pandemic adversely affected the functioning of non-ambulatory patients more than that of ambulatory patients. The interindividual differences were, however, noticeable. To our knowledge, this pilot study is the first comprehensive survey-based study of the physical, psychological, and social functioning of adult persons with nemaline myopathy or related disorders. The results indicate vulnerability of non-ambulatory patients being at higher risk to a decrease in general functioning during global or national exceptional periods. The responses also gave directions for modifying and improving the survey for future studies.
In this review, we aimed to determine the environmental factors that are influencing the participation of stroke survivors in Africa.
Four electronic databases were systematically searched from ...inception to August 2021, and identified articles were screened by the two authors of this review based on predetermined criteria. No date restrictions were imposed, and we included any type of paper, including gray literature. We followed the scoping review framework by Arksey and O'Malley, which was later revised by Levac et al. The whole finding is reported using the preferred reporting items for systematic reviews and meta-analyses extension for scoping reviews (PRISMA-ScR).
A total of 584 articles were generated by the systematic search, and one article was added manually. After eliminating the duplicates, the titles and abstracts of 498 articles were screened. From the screening, 51 articles were selected for full article review, of which 13 met the criteria to be included. In total, 13 articles were reviewed and analyzed based on the international classification of functioning, disability, and health (ICF) framework of the environmental determinants. Products and technology; natural environment and human-made changes to environment; and services, systems, and policies were found to be barriers for stroke survivors to participate in their community. Conversely, stroke survivors are getting good support from their immediate family and health professionals.
This scoping review sought to identify the environmental barriers and the facilitators that are determining the participation of stroke survivors in Africa. The results of this study can serve as a valuable resource for policymakers, urban planners, health professionals, and other stakeholders involved in disability and rehabilitation. Nonetheless, additional research is necessary to validate the identified facilitators and barriers.
Objective
The Child and Adolescent Scale of Participation (CASP) parent report is a brief and valid measure for use with children and youth with chronic conditions/disabilities that has been shown to ...have good coverage at the chapter level of the ‘Activities and Participation’ component of the International Classification of Functioning, Disability and Health. The purpose of this research was to assess the psychometric properties of a CASP youth self‐report version, to further validate the parent report, and to compare parent and youth reports of youths' activity and participation.
Methods
Baseline data from a longitudinal study examining predictors of changes in quality of life for youth with chronic conditions/disabilities were used. CASP data were collected on 409 youth aged 11–17 with various conditions/disabilities using youth and parent reports. Internal consistency and factor structure were examined for both versions using Cronbach's alpha and exploratory factor analyses. Inter‐rater agreement and magnitude of differences between youth and parent report were evaluated using intraclass correlation coefficients and paired t‐tests respectively. Gender, age and condition/disability group differences in youth report CASP scores were examined using independent t‐tests or analyses of variance.
Results
Strong internal consistency and internal structure validity was demonstrated for the CASP youth and parent report. The youth report factor structure was similar to the parent report in this and other studies. Youth reported their activity/participation to be significantly higher than did their parents. Significant differences in CASP scores were found among condition/disability groups.
Conclusions
Findings show that, from a psychometric standpoint, the youth version of the CASP is a promising new self‐report measure of activity and participation. As youth perceive their activity and participation levels differently than their parents, it is important to collect data from both sources to obtain a more comprehensive understanding of this aspect of youths' lives.
Purpose: To explore parents' views of the activities and participation of children with cerebral palsy (CP) with a range of communicative abilities and the factors (personal and environmental) that ...influenced these. Methods: Thirteen parents of children with CP aged 4-9 years participated in semi-structured individual interviews. Interviews were recorded, transcribed and analysed thematically. Identified codes and themes were mapped to the domains of the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY). Results: Parents' responses reflected all ICF-CY domains comprising activity, participation and environmental factors. Codes were primarily mapped to the domains learning and applying knowledge, communication, mobility and interpersonal interactions and relationships. Key barriers identified included aspects of parents' own interactions with their child (e.g. not offering choices), unfamiliar people and settings, negative attitudes of others and children's frustration. Facilitators included support received from the child's family and school, being amongst children, having a familiar routine and the child's positive disposition. Conclusions: Despite the barriers experienced, children participated in a range of activities. Parents placed importance on communication and its influence on children's independence, behaviour and relationships. Barriers and facilitators identified highlight aspects of the environment that could be modified through intervention to enhance communication and participation.
Implications for Rehabilitation
Children's activities and participation were largely related to early learning tasks (e.g. literacy), communication, mobility and interactions.
Intervention aimed at improving activities and participation may address the various child, impairment, social and environment factors identified here as impacting on activities and participation (e.g. the child's personal characteristics, communication and physical impairments, the support and attitudes of others and the familiarity of the environment).
Therapists will need to consider (and manage) the potential negative impact communication deficits may have on children's behaviour, independence and social skills which may in turn detrimentally impact on activity and participation.
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