Search results for "disabilities"
showing 10 items of 230 documents
Follow-Up to Ensure Continuity of Care and Support Preventive Care
2023
Over the last decades, the prevalence of chronic health conditions and disabilities among children rose steadily, thanks to medical advances in both treating the primary condition and managing its complications. The improved long-term survival rates led to persistently high rates of pediatric chronic health conditions, which are often burdened with limitation in daily activity and dependence on medication, special diets, medical technology, assistive devices, and specialized staff. Therefore, children with complex chronic conditions are a frail population who generally need healthcare services beyond what is usual for healthy children. Indeed, their health issues often require specialized a…
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skel…
2007
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory …
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
2014
Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…
Definitions, measurement and prevalence of sedentary behaviour in adults with intellectual disabilities – a systematic review
2017
Supporting positive change in lifestyle behaviours is a priority in tackling the health inequalities experienced by adults with intellectual disabilities. In this systematic review, we examine the evidence on the definition, measurement and epidemiology of sedentary behaviour of adults with intellectual disabilities. A systematic literature search of PUBMED, EMBASE, MEDLINE and Google Scholar was performed to identify studies published from 1990 up to October 2015. Nineteen papers met the criteria for inclusion in the systematic review. Many researchers do not distinguish between insufficient physical activity and sedentary behaviour. None of the studies reported the reliability and validit…
Application of the International classification of functioning, disability and health in Taiwan : victory of the medical model
2017
AbstractSince July 2012, eligibility for disability benefits and services in Taiwan has been assessed based on the International Classification of Functioning, Disability and Health. This study examines disabled people’s experiences of this new assessment system: does it incorporate the social model or a multidimensional understanding of disability and assess the needs of disabled people adequately? In-depth interviews were employed with 24 disabled persons to answer these questions from the perspective of disabled people. The findings show that the new assessment model is still medicalised: social roles and social participation are not considered, the assessment process is dominated by pro…
Association of poverty and social exclusion with body mass index among Special Olympics athletes in Europe.
2016
Objectives To examine the association of a risk of poverty and social exclusion (AROPE), age, and gender with the body mass index (BMI) status of European Special Olympics athletes. Methods BMI records were available for 1905 children and youth and 5517 adults from the Special Olympics International (SOI) Health Promotion database. AROPE was extracted from EU Eurostat statistics. Logistic regression analyses were used to predict BMI status. Results For children/youth and adults, respectively, 9.4 and 6.3% were underweight and 25.3 and 44.6% were overweight/obese. Being underweight was significantly associated with higher AROPE rates. Being female and lower AROPE rates were significantly ass…
Predictors of completion of upper secondary education of young adults with severe physical and multiple disabilities in Finland
2019
ABSTRACTPrior studies have shown that young adults with severe physical and multiple disabilities are less likely to complete upper secondary education. This study aimed to identify whether these s...
Correlates of Sedentary Behaviour in Adults with Intellectual Disabilities—A Systematic Review
2018
Individuals with intellectual disabilities (ID) are at high risk for high levels of sedentary behaviour. To inform the development of programmes to reduce sedentary behaviour, insight into the correlates is needed. Therefore, the aim of this study is to review the evidence on correlates of sedentary behaviour in adults with ID. We performed a systematic literature search in Ovid Medline, Ovid Embase, Web of Science and Google Scholar up to 19 January 2018, resulting in nine included studies that were published from 2011 to 2018. Correlates were categorized according to the ecological model. Studies predominantly focused on individual level correlates. Of those correlates studied in more tha…
Cohen syndrome is associated with major glycosylation defects
2014
International audience; Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synthesized proteins occurs, we hypothesized that VPS13B deficiency, responsible of Golgi apparatus disturbance, could lead to glycosylation defects and/or mysfunction of this organelle, and thus be a cause of the main clinical manifestations of CS. The glycosylation status of CS serum proteins showed a very unusual pattern of glycosylation characterized by a significant accum…
Questioning Human Rights: The Case of Education for Children and Youth with Disabilities in Ethiopia
2016
This chapter focuses on the politics of education as a basic human right. We analyze the challenges and opportunities implied in realizing the Convention on the Rights of Persons with Disabilities and operationalizing the human rightsbased approach to disability (HRBAD) with a case study on the inclusion of children and youth with disabilities in the regular education system of Ethiopia. The existing situation is highlighted with lived experiences of persons with disabilities and comments by organisations of persons with disabilities, education professionals, and government officials who were interviewed between August and October 2013 in Ethiopia. When successful, the HRBAD and its critica…