Journal articles: 'Inborn and gained disability'

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van Karnebeek, Clara D. M., and Sylvia Stockler. "Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review." Molecular Genetics and Metabolism 105, no. 3 (March 2012): 368–81. http://dx.doi.org/10.1016/j.ymgme.2011.11.191.

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Ferdous, Md, Abu Syeed, and Md Gofranul Hoque. "Acute Intermittent Porphyria: A Rare Inborn Error of Haem Metabolism." Medicine Today 25, no. 2 (February 10, 2014): 93–95. http://dx.doi.org/10.3329/medtoday.v25i2.17929.

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A 22 year young boy presented with recurrent abdominal pain, generalized weakness & wasting with hypertension in Medicine ward CMCH. Subsequently he was diagnosed as a case of Acute Intermittent Porphyria (AIP). Though not common, any patient with unexplained abdominal crisis specially young with any peripheral or central nervous system dysfunction should raise the clinician's suspicion of being porphyric patient as prompt management can relieve the patient from progressive neurological damage and disability. DOI: http://dx.doi.org/10.3329/medtoday.v25i2.17929 Medicine Today 2013 Vol.25(2): 93-95

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De Las Heras, Javier, Ibai Diez, Antonio Jimenez-Marin, Alberto Cabrera, Daniela Ramos-Usuga, Marta Venecia Diaz-Fernandez, Leire Torices, et al. "Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder." Journal of Clinical Medicine 9, no. 4 (April 2, 2020): 990. http://dx.doi.org/10.3390/jcm9040990.

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Neuroimaging studies describing brain circuits’ alterations in cobalamin (vitamin B12)-deficient patients are limited and have not been carried out in patients with inborn errors of cobalamin metabolism. The objective of this study was to assess brain functionality and brain circuit alterations in a patient with an ultra-rare inborn error of cobalamin metabolism, methylmalonic aciduria, and homocystinuria due to cobalamin D disease, as compared with his twin sister as a healthy control (HC). We acquired magnetic resonance imaging (including structural, functional, and diffusion images) to calculate brain circuit abnormalities and combined these results with the scores after a comprehensive neuropsychological evaluation. As compared with HC, the patient had severe patterns of damage, such as a 254% increment of ventricular volume, pronounced subcortical and cortical atrophies (mainly at striatum, cingulate cortex, and precuneus), and connectivity alterations at fronto-striato-thalamic circuit, cerebellum, and corpus callosum. In agreement with brain circuit alterations, cognitive deficits existed in attention, executive function, inhibitory control, and mental flexibility. This is the first study that provides the clinical, genetic, neuroanatomical, neuropsychological, and psychosocial characterization of a patient with the cobalamin D disorder, showing functional alterations in central nervous system motor tracts, thalamus, cerebellum, and basal ganglia, that, as far as we know, have not been reported yet in vitamin B12-related disorders.

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Lejzerowicz, Magda. "Identity and its reconstruction and disabled people." International Journal on Disability and Human Development 16, no. 1 (February 1, 2017): 19–24. http://dx.doi.org/10.1515/ijdhd-2016-0036.

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Abstract A disabled person with acquired disability must manage to cope with social identity, reconstruct their identity and construct own biography from scratch. People with inborn disability create their identity of a disabled person from the beginning. They are educated to play a role of a person with disabilities in society. The stigma of disability remains with a disabled person forever. Disability becomes the central category determining the social identity of these individuals. The problems which were raised are connected with setting up the line between personal and social identity, between satisfying the need of being unique and the need to belong, between defining a person through the prism of stigma and perceiving them as representative of the specific type of personality. The mark of the person with disability that this disability imprints in their life is the best known only by the people who live with it. The article is an attempt to answer questions: Is it possible to manage the social identity or does the disabled person need to reconstruct their identity or construct their biography from scratch? What are the chances of dealing with disability stigma?

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Caldwell, Linda L., and Adrienne A. Gilbert. "Leisure, Health, and Disability: A Review and Discussion." Canadian Journal of Community Mental Health 9, no. 2 (September 1, 1990): 111–22. http://dx.doi.org/10.7870/cjcmh-1990-0022.

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There is growing evidence that leisure is an important aspect of people's lives. The satisfactions gained from leisure often outweigh those gained from employment or other work activities. Individuals with disabilities are no exception to this phenomenon. Opportunity to engage in leisure activities of one's choosing is paramount to a disabled person's health and well-being. The purposes of this article are to: (a) describe the potential benefits of participation in recreation and leisure to individuals with disabilities, (b) describe what is currently known about leisure and disability, and (c) suggest research directions. An enabling model of leisure and mental health is offered.

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Bennett, Holly, Andrew Kingston, Gemma Spiers, Louise Robinson, Clare Bambra, Carol Brayne, Fiona Matthews, and Carol Jagger. "Trends in Health Expectancies by Late-Life Disadvantage: The Cognitive Function and Ageing Studies." Innovation in Aging 4, Supplement_1 (December 1, 2020): 640. http://dx.doi.org/10.1093/geroni/igaa057.2197.

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Abstract To understand how and why disability-free life expectancy (DFLE) trends differ by socioeconomic position (SEP) we use longitudinal data from the Cognitive Function and Ageing Studies (CFAS I: 1991; CFAS II: 2011), with two year follow up. Disability was defined as difficulty in activities of daily living, and SEP as area-level deprivation. Between 1991 and 2011, men aged 65 gained more in life expectancy (LE) than DFLE, with the greatest gain in DFLE for the most advantaged and in disability years for the most disadvantaged. The most advantaged men experienced a 60% reduction in the risk of death when disability-free, 30% reduction in incident disability, and 80% increase in recovery. The most disadvantaged experienced a 30% reduction of death but from disability. Women overall, and in the most advantaged groups, gained similar years of LE and DFLE to men but due to a 30% reduction in incident disability only.

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van Karnebeek, Clara DM, and Sylvia Stockler-Ipsiroglu. "Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia." Paediatrics & Child Health 19, no. 9 (November 2014): 469–71. http://dx.doi.org/10.1093/pch/19.9.469.

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McRuer, Robert. "Disability and the NAMES Project." Public Historian 27, no. 2 (2005): 53–61. http://dx.doi.org/10.1525/tph.2005.27.2.53.

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This essay considers how the AIDS quilt can function within the public historical record as a disability artifact; it connects contestations over the quilt to contestations over the meaning of disability in American cultures. Although the AIDS quilt is a very different artifact from others constructed during the Disability Rights Movement, the movement that generated the AIDS quilt has likewise been propelled by a commitment to more democratic futures. This essay considers how interpretations of the past can contribute to such futures and asks what can be gained by broadening our still-fluctuating sense of what disability history might be.

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Bonnot, Olivier, Matthew J. Fraidakis, Raffaella Lucanto, Dominique Chauvin, Nathalie Kelley, Monique Plaza, Odile Dubourg, Olivier Lyon-Caen, Frédéric Sedel, and David Cohen. "Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid." CNS Spectrums 15, no. 4 (April 2010): 231–37. http://dx.doi.org/10.1017/s1092852900000067.

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ABSTRACTCerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairments. In both cases, treatment with chenodeoxycholic acid improved externalized symptoms and a partial recovery of cognitive impairments was observed. This suggests that CTX is potentially reversible, demonstrating the need for early diagnosis and treatment of this disorder before irreversible neurological lesions can occur.

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Omelchenko, E. M., O. O. Polka, and L. A. Karamzina. "Neonatal Screening for Monogenic Inborn Pathology in Ukraine." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, no. 6 (December 12, 2020): 292–98. http://dx.doi.org/10.26693/jmbs05.06.292.

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The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic screening, help to avoid such risks. Such testing with a stable detection result is carried out only for 3 diseases: phenylketonuria, hypothyroidism, cystic fibrosis today in Ukraine. The purpose of the study was to evaluate the results of screening for monogenic pathology among newborns in Ukraine. Material and methods. The results of screening for hereditary pathology of newborns in Ukraine were evaluated over a 10-year period: from 2010 to 2019. The information base was the data of official medical statistics. Out of 4,308,100 live births, 9,199,817 newborns were covered by neonatal genetic screening. The presence of genetic pathology was identified and confirmed at 1313 children. Results and discussion. According to a group of researchers from the Wadsworth Center (New York, USA), the development of the science of newborn screening, especially with new technologies, providing new types of information (genetic and physiological) for each new condition, is possible only with pilot programs. During 2010-2019 in Ukraine neonatal genetic screening covered phenylketonuria in 89.56% of newborns, hypothyroidism in 84.43% of newborns, and cystic fibrosis in 39.55% of newborns. It is necessary to create a state program of mass examination for hereditary diseases that can be treated. The main purpose of such a program is to predict the dynamics of genetic load among the population to develop the necessary medical and social measures. A decrease in the number of births of children with congenital malformations is possible in the context of government programs aimed at reducing risk factors causing congenital anomalies, as well as taking preventive measures. The main goal of such a program is to predict the dynamics of the genetic load among the population in order to develop the necessary medical and social measures. Conclusion. In Ukraine today there are no targeted programs for comprehensive prevention of congenital pathology. Improvement of the situation is possible through the involvement of high technologies, allowing to expand the panel of genetic screening to start early treatment and reduce negative results. Genetic screening has been shown to be an effective tool for detecting congenital metabolic disorders

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Kiely, Kim, Richard Tawiah, Carol Jagger, and Kaarin Anstey. "Socioeconomic Position Across the Life Course and Trends in Disability-Free Life Expectancy in Australia." Innovation in Aging 4, Supplement_1 (December 1, 2020): 641. http://dx.doi.org/10.1093/geroni/igaa057.2199.

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Abstract There has been little investigation of how life-course social mobility is linked to Disability-Free Life Expectancy (DFLE). We report novel analysis of the HILDA survey examining how DFLE trends differs by three markers of socio-economic position (SEP): early-life (educational attainment), midlife (occupational level), and late-life (area-disadvantage). All women, irrespective of their educational level, gained years with disability (Age 65: Low education=1.5 and High education=2.5 years). Similar results were obtained by level of occupation, but women with low occupation showed small declines in LE (-0.8 years), all being losses in DFLE. Only women in the most advantaged areas gained DFLE. For men, higher levels of any marker of SEP were associated with DFLE gains that were larger than, or comparable to, gains in years lived with disability, although lower education was associated only with gains in years lived with disability. DFLE trends differ by SEP marker more in women than men.

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McGrath, Colleen, and Debbie Laliberte Rudman. "Using Participant Observation to Enable Critical Understandings of Disability in Later Life: An Illustration Conducted With Older Adults With Low Vision." International Journal of Qualitative Methods 18 (January 1, 2019): 160940691989129. http://dx.doi.org/10.1177/1609406919891292.

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Research with older adults aging with vision loss has typically been informed by a biomedical theoretical framework. With a growing focus, however, on critical disability perspectives, which locates disability within the environment, new methods of data collection, such as participant observation, are needed. This article, which reports on the findings from a critical ethnographic study conducted with older adults with age-related vision loss (ARVL), aims to share those insights gained through participant observation and to demonstrate the utility of this method. Three insights were gained including the adaptive strategies tacitly employed to navigate the physical environment, a grounded understanding of social interactions that transpire in everyday contexts, and negating the presence of older adults with ARVL when accompanied by a perceived caregiver. The study findings unpack how participant observation can be used to understand social constructions of disability and gain a holistic understanding of environmental influences on the disability experience of older adults with ARVL.

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Goering, Sara. ""Mental Illness" and Justice as Recognition." Philosophy & Public Policy Quarterly 29, no. 1/2 (April 1, 2009): 14. http://dx.doi.org/10.13021/g8pppq.292009.111.

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Disability scholars have argued that the disadvantage of disability is caused primarily by social factors and calls out for social change as a matter of justice. But what about psychiatric disability? While noting several factors that make psychiatric disability a special casethe mentally ill individuals unreliability of judgment and instability of functioningSara Goering argues that much is gained by viewing mental illness through the lens of social oppression and workingtoward recognition of individuals with mental illness as equal members of the human community

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Lourenco, C. Marques, C. Funayama, J. M. Pina-Neto, and W. Marques. "P17.11 Genetic “metabolic” evaluation of intellectual disability: investigating inborn errors of metabolism as cause of mental retardation." European Journal of Paediatric Neurology 15 (May 2011): S102. http://dx.doi.org/10.1016/s1090-3798(11)70352-x.

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Spodenkiewicz, Marta, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, Vincent Cottin, Guillaume Jouret, Céline Poirsier, Martine Doco-Fenzy, and Anne-Sophie Lèbre. "Clinical Genetics of Prolidase Deficiency: An Updated Review." Biology 9, no. 5 (May 21, 2020): 108. http://dx.doi.org/10.3390/biology9050108.

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Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data and research studies over prolidase deficiency. The aim of this study is to summarize the actual state of the art from the descriptions of all the patients with a molecular diagnosis of prolidase deficiency reported to date regarding the clinical, biological, histopathological features, therapeutic options and functional studies.

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Denman, R., V. Chester, J. Watson, C. Nyakunuwa, and R. Alexander. "The prevalence of obesity among forensic intellectual disability inpatients." European Psychiatry 41, S1 (April 2017): S585. http://dx.doi.org/10.1016/j.eurpsy.2017.01.884.

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BackgroundInpatient mental health settings have been described as “obesogenic” environments, due to factors including psychotropic medication, high calorie food, restricted physical activity and sedentary lifestyles. No research has investigated obesity among forensic intellectual disability inpatients, despite this populations’ increased risk. Therefore, this paper aims to evaluate the prevalence and correlates of overweight and obesity on, and during admission.MethodThe weight and body mass index data of 46 inpatients (15 women and 31 men) within a specialist intellectual disability forensic service was examined for the study.ResultsOnly six patients (13%) were a normal weight at admission, whereas 40 (87%) were overweight or obese. During their admission, 28 (61%) gained weight (average 11.8 kg), and one (2%) maintained. However, 17 patients (37%) lost weight (average 6.2 kg), though 16 remained in overweight/obese categories. There was no correlation between length of stay and weight/BMI.ConclusionsThe majority of patients were overweight or obese on admission, and approximately 60% gained weight during their admission. Women appeared at greater risk of obesity. There was no relationship between length of stay and weight. This is potentially due to the high prevalence of obesity on admission and the impact of previous admissions on weight. The results highlight the need for effective weight management interventions with this population.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Amiruddin Mohd Kassim, Mohd, Nicholas Tze Ping Pang, Muhammad Haniff Abdullah, and Norharlina Bahar. "A Case of Potential Inborn Error of Metabolism as a Cause of Young Onset Psychosis." Archives of Psychiatry Research 57, no. 2 (June 1, 2021): 193–98. http://dx.doi.org/10.20471/dec.2021.57.02.08.

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Introduction: Young onset psychosis has poor prognosis, and inborn errors of metabolism (IEM) can be easily missed. There is scarce information regarding IEM and young onset psychosis in Malaysia. Case Report: A 15-year-old Malay girl presented at the age of 8 years with a history of intellectual disability and neuro-regression, subsequently developing psychotic and obsessive-compulsive symptoms several years later. Organic workup revealed elevated lactate levels. Urine organic acid chromatogram revealed a moderate peak of lactate however most other investigations were normal. As MRI brain is normal and there are no neurological signs it appears less likely there is an underlying IEM-related aetiology for psychosis. Discussion: Various IEMs can be related to psychosis however the incidence is very low and quality of evidence is poor. Thus, any psychiatric presentation, particularly with suggestive clinical signs, should warrant an organic (including IEM) workup since these causes are potentially reversible with supplementation.

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Hope, S., C. H. Johannessen, N. O. Aanonsen, and P. Strømme. "The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway." European Journal of Neurology 23 (November 13, 2015): 36–44. http://dx.doi.org/10.1111/ene.12884.

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Aghamohammadi, Asghar, Nima Rezaei, Reza Yazdani, Samaneh Delavari, Necil Kutukculer, Ezgi Topyildiz, Ahmet Ozen, et al. "Consensus Middle East and North Africa Registry on Inborn Errors of Immunity." Journal of Clinical Immunology 41, no. 6 (May 29, 2021): 1339–51. http://dx.doi.org/10.1007/s10875-021-01053-z.

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Abstract Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.

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Ishtiaq, Hina, Sonia Siddiqui, Rukhsana Nawaz, Khawar Saeed Jamali, and Abdul Ghani Khan. "Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene." CNS & Neurological Disorders - Drug Targets 19, no. 2 (June 17, 2020): 127–41. http://dx.doi.org/10.2174/1871527319666200213115747.

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Background: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK). Objective: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents. Methods: The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded. Results: Our data suggest that clinical symptoms and financial status play a significant role in conferring sialuria related Intellectual Disability (ID). SNP: rs121908623 showed G/A substitution (R263Q) in the GNE gene. Conclusion: We have identified one case study in Pakistan, so this makes our research a leap forward towards the identification of the 10th case study worldwide.

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Nakhaee Amroodi, Morteza, Abolfazl Bagherifard, Mahmoud Jabalameli, Mostafa Salehpour, and Shoeib Majdi. "Alkaptonuric Ochronosis Superimposed With Septic Arthritis in a Middle-aged Man." Journal of Research in Orthopedic Science 7, no. 1 (February 1, 2020): 41–46. http://dx.doi.org/10.32598/jrosj.7.1.41.

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Alkaptonuria is a rare inborn metabolic disease, in which an enzymatic deficiency accumulates alkapton in different tissues, causing darkness and injury, especially in spine and large cartilages, called ochronosis. The urine darkness can be a key to early diagnosis in childhood, but some cases are missed until adulthood and gradual damage to cartilages causes disability and impairs the patients’ quality of life. Here, a 49-year old male patient is presented with a 2 week history of left knee pain and swelling, who underwent arthrotomy, and the macro- and microscopic evaluation revealed ochronosis, superimposed by septic arthritis. Diagnosis of this rare disease should be considered in differential diagnoses of common joint disorders, like septic arthritis and osteoarthritis, so that appropriate management of the disease can prevent further damages.

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Lee, Jinkook, Samuel Lau, Erik Meijer, and Peifeng Hu. "Living Longer, With or Without Disability? A Global and Longitudinal Perspective." Journals of Gerontology: Series A 75, no. 1 (January 9, 2019): 162–67. http://dx.doi.org/10.1093/gerona/glz007.

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Abstract Background Significant gains in life expectancy have been achieved, but living longer does not necessarily mean the years gained are productive and healthy. Different theories predict different patterns of time trends in old-age disability prevalence. Methods Using the Gateway to Global Aging Data, which provides internationally harmonized longitudinal data from the Health and Retirement Study and its sister surveys, we compare time trends (from 2004 to 2014) in disability prevalence across countries. Results Disability prevalence varies greatly across countries, and divergent time trends are observed across countries. For countries such as Belgium, Czechia, and Mexico, we observe an increase of disability prevalence, whereas in countries such as Denmark, England, Greece, Korea, Poland, and Sweden, we observe a substantial decrease in disability prevalence. Looking further into the severity of disability, we often observe differential trends in prevalence, but there is no evidence supporting the dynamic equilibrium hypothesis that predicts increased prevalence of modest disability but a decrease in severe disability prevalence. Conclusions Significant gains in life expectancy have translated into different gains in healthy years of life across different countries. Diverse time trends in disability prevalence across countries reaffirm that the expansion of late-life disability is not inevitable.

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Tawiah, Richard, Kaarin Anstey, Carol Jagger, and Kim Kiely. "Area-Level Disadvantage and Changes in Disability-Free Life Expectancy for Older Australians." Innovation in Aging 4, Supplement_1 (December 1, 2020): 640–41. http://dx.doi.org/10.1093/geroni/igaa057.2198.

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Abstract We report the first analysis of inequalities in Disability-Free Life Expectancy (DFLE) trends for Australia, based on two cohorts of the nationally representative Household Income and Labour Dynamics in Australia survey. Each cohort was aged 45+ at baseline with 7-years of annual follow-up (Older cohort: 2001-2007, n=6363; Younger cohort: 2011-2017, n=8197). Disability was defined by a Global Activity Limitation Indicator, and socioeconomic position (SEP) by an area-level index of disadvantage. Compared to men in high advantage areas, men residing in low advantage areas experienced smaller gains in life expectancy (3.0 vs 4.6 years at age 65), DFLE (0.6 vs 1.8 years) and years with disability (2.4 vs 2.8 years). In contrast, for women in low advantage areas all years gained in life expectancy (2.6 years) were years with disability, whereas women in high advantage areas experienced gains in DFLE (1.7 years) and even more years with disability (2.7 years).

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Adogwa, Owoicho, Scott L. Parker, Brandon J. Davis, Oran Aaronson, Clinton Devin, Joseph S. Cheng, and Matthew J. McGirt. "Cost-effectiveness of transforaminal lumbar interbody fusion for Grade I degenerative spondylolisthesis." Journal of Neurosurgery: Spine 15, no. 2 (August 2011): 138–43. http://dx.doi.org/10.3171/2011.3.spine10562.

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Object Transforaminal lumbar interbody fusion (TLIF) for spondylolisthesis-associated back and leg pain is associated with improvement in pain, disability, and quality of life. However, given the rising health care costs associated with spinal fusion procedures and varying results of recent cost-utility studies, the cost-effectiveness of TLIF remains unclear. The authors set out to assess the comprehensive costs of TLIF at their institution and to determine its cost-effectiveness in the treatment of degenerative spondylolisthesis. Methods Forty-five patients undergoing TLIF for Grade I degenerative spondylolisthesis–associated back and leg pain after 6–12 months of conservative therapy were included. The authors assessed the 2-year back pain visual analog scale (VAS) score, leg pain VAS score, Oswestry Disability Index, and total back-related medical resource utilization, missed work, and health-state values (quality-adjusted life years [QALYs], calculated from EQ-5D with US valuation). Two-year resource use was multiplied by unit costs based on Medicare national allowable payment amounts (direct cost), and patient and caregiver workday losses were multiplied by the self-reported gross-of-tax wage rate (indirect cost). The mean total 2-year cost per QALY gained after TLIF was assessed. Results Compared with preoperative health states reported after at least 6 months of medical management, a significant improvement in back pain VAS score, leg pain VAS score, and Oswestry Disability Index was observed 2 years after TLIF, with a mean 2-year gain of 0.86 QALYs. The mean ± SD total 2-year cost of TLIF was $36,836 ± $11,800 (surgery cost, $21,311 ± $2800; outpatient resource utilization cost, $3940 ± $2720; indirect cost, $11,584 ± $11,363). Transforaminal lumbar interbody fusion was associated with a mean 2-year cost per QALY gained of $42,854. Conclusions Transforaminal lumbar interbody fusion improved pain, disability, and quality of life in patients with degenerative spondylolisthesis–associated back and leg pain. The total cost per QALY gained for TLIF was $42,854 when evaluated 2 years after surgery with Medicare fees, suggesting that TLIF is a cost-effective treatment of lumbar spondylolisthesis.

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Santos, Sofia, Pedro Morato, and Ruth Luckasson. "Psychometric Properties of the Portuguese Version of the Adaptive Behavior Scale." Intellectual and Developmental Disabilities 52, no. 5 (October 1, 2014): 379–87. http://dx.doi.org/10.1352/1934-9556-52.5.379.

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Abstract The adaptive behavior construct has gained prominent attention in human services over the last several years in Portugal, and its measurement has become an integral part of the assessment of populations with intellectual disability. In Portugal, diagnosis remains exclusively based on IQ measures, although some attention recently has been given to the adaptive behavior concept. In this article, we explain the adaptation and validation process of the Portuguese version of the Adaptive Behavior Scale (PABS) on a sample of 1,875 people with and without intellectual disability. Results of the study are discussed in terms of the reliability and validity of PABS on the sample. The PABS appears to be a valid and reliable assessment of adaptive behavior in individuals in Portugal with intellectual disability.

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Edwards, Katherine, and Lawrence Impey. "Extreme preterm birth in the right place: a quality improvement project." Archives of Disease in Childhood - Fetal and Neonatal Edition 105, no. 4 (November 12, 2019): 445–48. http://dx.doi.org/10.1136/archdischild-2019-317741.

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Extreme preterm birth is a major precursor to mortality and disability. Survival is improved in babies born in specialist centres but for multiple reasons this frequently does not occur. In the Thames Valley region of the UK in 2012–2014, covering 27 000 births per annum, about 50% of extremely premature babies were born in a specialist centre. Audit showed a number of potential areas for improvement. We used regional place of birth data and compared the place of birth of extremely premature babies for 2 years before our intervention and for 4 years (2014–2018) after we started. We aimed to improve the proportion of neonates born in a specialist centre with three interventions: increasing awareness and education across the region, by improving and simplifying the referral pathway to the local specialised centre, and by developing region-wide guidelines on the principal precursors to preterm birth: preterm labour and expedited delivery for fetal growth restriction. There were 147 eligible neonates born within the network in the 2 years before the intervention and 80 (54.4%) were inborn in a specialised centre. In the 4 years of and following the intervention, there were 334 neonates of whom 255 were inborn (76.3%) (relative risk of non-transfer 0.50 (95% CI 0.39 to 0.65), p<0.001). Rates showed a sustained improvement. The proportion of extremely premature babies born in specialist centres can be significantly improved by a region-wide quality improvement programme. The interventions and lessons could be used for other areas and specialties.

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Parker, Scott L., and Matthew J. McGirt. "Determination of the Minimum Improvement in Pain, Disability, and Health State Associated With Cost-Effectiveness." Neurosurgery 71, no. 6 (September 14, 2012): 1149–55. http://dx.doi.org/10.1227/neu.0b013e318271ebde.

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ABSTRACT BACKGROUND: Minimum clinical important difference (MCID) has been adopted as the smallest improvement in patient-reported outcome needed to achieve a level of improvement thought to be meaningful to patients. OBJECTIVE: To use a common MCID calculation method with a cost-utility threshold anchor to introduce the concept of minimum cost-effective difference (MCED). METHODS: Forty-five patients undergoing transforaminal lumbar interbody fusion for degenerative spondylolisthesis were included. Outcome questionnaires were administered before and 2 years after surgery. Total cost per quality-adjusted life-year (QALY) gained was calculated for each patient. MCED was determined from receiver-operating characteristic curve analysis with a cost-effective anchor of < $50 000/QALY and < $75 000/QALY. MCID was determined with the health transition item as the anchor. RESULTS: Significant improvement was observed 2 years after transforaminal lumbar interbody fusion for all outcome measures. Mean total cost per QALY gained at 2 years was $42 854. MCED was greater than MCID for each outcome measure, meaning that a greater improvement was required to represent cost-effectiveness than a clinically meaningful improvement to patients. The area under the receiver-operating characteristic curve was consistently ≥ 0.70 with both cost-effective anchors, suggesting that outcome change scores were accurate predictors of cost-effectiveness. Mean cost per QALY gained was significantly lower for patients achieving compared with those not achieving an MCED in visual analog scale for leg pain ($43 560 vs $112 087), visual analog scale for back pain ($41 280 vs $129 440), Oswestry Disability Index ($30 954 vs $121 750), and EuroQol 5D ($35 800 vs $189 412). CONCLUSION: MCED serves as the smallest improvement in an outcome instrument that is associated with a cost-effective response to surgery. With the use of cost-effective anchor of < $50 000/QALY, MCED after transforaminal lumbar interbody fusion was 4 points for visual analog scale for low back pain, 3 points for visual analog scale for leg pain, 22 points for Oswestry Disability Index, and 0.31 QALYs for EuroQol 5D.

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Meretoja, Atte, Mahsa Keshtkaran, Turgut Tatlisumak, Geoffrey A. Donnan, and Leonid Churilov. "Endovascular therapy for ischemic stroke." Neurology 88, no. 22 (April 28, 2017): 2123–27. http://dx.doi.org/10.1212/wnl.0000000000003981.

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Objective:To quantify the patient lifetime benefits gained from reduced delays in endovascular therapy for acute ischemic stroke.Methods:We used observational prospective data of consecutive stroke patients treated with IV thrombolysis in Helsinki (1998–2014; n = 2,474) to describe distributions of age, sex, stroke severity, onset-to-treatment times, and 3-month modified Rankin Scale (mRS) in routine clinical practice. We used treatment effects by time of endovascular therapy in large vessel occlusion over and above thrombolysis as reported by the Multicenter Randomized Clinical Trial of Endovascular Treatment for Acute Ischemic Stroke in the Netherlands (MR CLEAN) study to model the shift in 3-month mRS distributions with reducing treatment delays. From the 3-month outcomes we derived patient-expected lifetimes and cumulative long-term disability with incremental treatment delay reductions.Results:Each minute saved in onset-to-treatment time granted on average 4.2 days of extra healthy life, with a 95% prediction interval 2.3–5.4. Women gained slightly more than men due to their longer life expectancies. Patients younger than 55 years with severe strokes of NIH Stroke Scale score above 10 gained more than a week per each minute saved. In the whole cohort, every 20 minutes decrease in treatment delays led to a gain of average equivalent of 3 months of disability-free life.Conclusions:Small reductions in endovascular delays lead to marked health benefits over patients' lifetimes. Services need to be optimized to reduce delays to endovascular therapy.

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Thompson, Vanessa E. "Policing in Europe: disability justice and abolitionist intersectional care." Race & Class 62, no. 3 (January 2021): 61–76. http://dx.doi.org/10.1177/0306396820966463.

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Over the last few years, the intersections between mental health and punitive violence have gained more attention within scholarship and activism around race and policing. Disability justice and intersectional approaches have argued that the discourses around and categorisations of various forms of disability are deeply rooted in projects of colonialism and enslavement, and their legacies. These discourses are strongly enacted in contemporary logics and practices of policing, as racialised people who identify or are categorised as mad, neurodiverse, mentally ill, psychiatric survivors and disabled are particularly vulnerable to police harassment and violence. This article discusses how policing is deeply intertwined with discourses around saneism – institutional and systemic oppression of people who identify, have been diagnosed as, or are perceived to be, mentally ill, which has implications for abolitionist intersectional thought and practice. Foregrounding a black feminist abolitionist analysis, in dialogue with intersectional disability justice and mad studies, the author argues that an accountable engagement with the mad analytics of policing of black lives has important implications for intersectional and abolitionist thought and activism as forms of care/ing for black lives.

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Znamenska, Tetiana K., Olga V. Vorobiova, Тetiana V. Holota, Vera V. Kryvosheieva, and Valeriy I. Pokhylko. "DIFFERENTIAL DIAGNOSTICS OF INHERITED METABOLIC DISORDERS IN NEWBORNS." Wiadomości Lekarskie 73, no. 6 (2020): 1211–16. http://dx.doi.org/10.36740/wlek202006125.

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The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories. Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up. Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy. Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.

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Lindsay, Sally. "Exploring Skills Gained Through a Robotics Program for Youth With Disabilities." OTJR: Occupation, Participation and Health 40, no. 1 (August 13, 2019): 57–63. http://dx.doi.org/10.1177/1539449219868276.

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Children with disabilities often have fewer opportunities to engage in science, technology, engineering, and math programs that can enhance their educational and career opportunities. This study explored the quality, experience, and skills learned in a group-based robotics program for youth with disabilities. Survey responses of 23 youth (16 males, 7 females), aged 9 to 14 with a disability, were analyzed using descriptive statistics and thematic analysis. Our results showed that youth with disabilities who participated in a robotics program rated the quality of their experience, perceived impact of the program, and skills gained highly across most items. Children enjoyed participating in the program and especially building the robots and making friends. Clinicians should consider engaging children with disabilities in robotics programs to enhance their participation and skill development.

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Namiki, Hirofumi. "Antipsychotic pitfalls: idiopathic intracranial hypertension and antipsychotic-induced weight gain." BMJ Case Reports 13, no. 6 (June 2020): e236161. http://dx.doi.org/10.1136/bcr-2020-236161.

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Idiopathic intracranial hypertension (IIH) is a condition associated with poor vision and headaches that can cause disability and reduced quality of life. The onset of IIH is typically associated with sudden weight gain and obesity, which may be due to first-generation or second-generation antipsychotics. This case involved the use of quetiapine in an obese, 28-year-old woman; she gained significant weight after starting the antipsychotic and later developed headaches and blurred vision. Reducing quetiapine and administering acetazolamide significantly improved her symptoms within 4 weeks. This case reminds physicians to consider IIH as a cause of headache and vision loss in patients who have gained weight after starting or increasing quetiapine.

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Wali, Arvin R., David R. Santiago-Dieppa, Justin M. Brown, and Ross Mandeville. "Nerve transfer versus muscle transfer to restore elbow flexion after pan–brachial plexus injury: a cost-effectiveness analysis." Neurosurgical Focus 43, no. 1 (July 2017): E4. http://dx.doi.org/10.3171/2017.4.focus17112.

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OBJECTIVEPan–brachial plexus injury (PBPI), involving C5–T1, disproportionately affects young males, causing lifelong disability and decreased quality of life. The restoration of elbow flexion remains a surgical priority for these patients. Within the first 6 months of injury, transfer of spinal accessory nerve (SAN) fascicles via a sural nerve graft or intercostal nerve (ICN) fascicles to the musculocutaneous nerve can restore elbow flexion. Beyond 1 year, free-functioning muscle transplantation (FFMT) of the gracilis muscle can be used to restore elbow flexion. The authors present the first cost-effectiveness model to directly compare the different treatment strategies available to a patient with PBPI. This model assesses the quality of life impact, surgical costs, and possible income recovered through restoration of elbow flexion.METHODSA Markov model was constructed to simulate a 25-year-old man with PBPI without signs of recovery 4.5 months after injury. The management options available to the patient were SAN transfer, ICN transfer, delayed FFMT, or no treatment. Probabilities of surgical success rates, quality of life measurements, and disability were derived from the published literature. Cost-effectiveness was defined using incremental cost-effectiveness ratios (ICERs) defined by the ratio between costs of a treatment strategy and quality-adjusted life years (QALYs) gained. A strategy was considered cost-effective if it yielded an ICER less than a willingness-to-pay of $50,000/QALY gained. Probabilistic sensitivity analysis (PSA) was performed to address parameter uncertainty.RESULTSThe base case model demonstrated a lifetime QALYs of 22.45 in the SAN group, 22.0 in the ICN group, 22.3 in the FFMT group, and 21.3 in the no-treatment group. The lifetime costs of income lost through disability and interventional/rehabilitation costs were $683,400 in the SAN group, $727,400 in the ICN group, $704,900 in the FFMT group, and $783,700 in the no-treatment group. Each of the interventional modalities was able to dramatically improve quality of life and decrease lifelong costs. A Monte Carlo PSA demonstrated that at a willingness-to-pay of $50,000/QALY gained, SAN transfer dominated in 88.5% of iterations, FFMT dominated in 7.5% of iterations, ICN dominated in 3.5% of iterations, and no treatment dominated in 0.5% of iterations.CONCLUSIONSThis model demonstrates that nerve transfer surgery and muscle transplantation are cost-effective strategies in the management of PBPI. These reconstructive neurosurgical modalities can improve quality of life and lifelong earnings through decreasing disability.

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Hong, Keun-Sik, and Jeffrey L. Saver. "Years of Disability-Adjusted Life Gained as a Result of Thrombolytic Therapy for Acute Ischemic Stroke." Stroke 41, no. 3 (March 2010): 471–77. http://dx.doi.org/10.1161/strokeaha.109.571083.

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Watkins, David, and Melanie Bertram. "PT322 Potential disability-adjusted life years gained from a comprehensive salt reduction policy in South Africa." Global Heart 9, no. 1 (March 2014): e229. http://dx.doi.org/10.1016/j.gheart.2014.03.2054.

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Al-Imam, Ahmed. "The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends." Asian Journal of Medical Sciences 9, no. 6 (October 29, 2018): 93–99. http://dx.doi.org/10.3126/ajms.v9i6.20497.

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Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous system and resulting in debilitating intellectual disability and other neuropsychiatric disorders. Phenylalanine is a building block of several critical proteins within the biological systems.Aims and Objective: To assess the digital epidemiology and geographic mapping of Phenylketonuria.Materials and Methods: This study is a retrospective analytic (2013‑2017) of a very large database existing on the surface web known as Google Trends. it aims to extrapolate a statistical inference concerning the digital epidemiology and the geographic mapping of phenylketonuria. The trends database will be explored via thematic keywords specific to the condition of phenylketonuria including “Phenylketonuria [PKU]”, “Phenylalanine”, “Inborn errors of metabolism”, “Tetrahydrobiopterin”, and “Chromosome 12 (human)”.Results: The digital epidemiology is densely clustered in countries from the developed world, eastern Europe, and Latin America. Surface web users from China appears to possess the highest interest in phenylketonuria. The contribution of the Middle Eastern and Arabic countries to the geographic mapping did not exceed 10.51% at its best. Significant changes existed for year-to-year variations of trends. Statistical outliers were also found, the strongest of which was observed during April 2016 for which there’s no plausible explanation.Conclusion: Trends databases operating on the surface web represent potent tools of big data that can be exploited to assess the digital epidemiology and geographic mapping of countless phenomenon including rare genetic diseases and inborn errors of metabolism. There are also enormous potentials for real-time and predictive analytics of these databases when investing the application of automation in data collection and principles of machine learning.Asian Journal of Medical Sciences Vol.9(6) 2018 93-99

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Douglas, Scott, William R. Falcão, and Gordon A. Bloom. "Career Development and Learning Pathways of Paralympic Coaches With a Disability." Adapted Physical Activity Quarterly 35, no. 1 (January 1, 2018): 93–110. http://dx.doi.org/10.1123/apaq.2017-0010.

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The purpose of this study was to gain an understanding of the career development and learning pathways of Paralympic head coaches who previously competed as Paralympic athletes. Each coach participated in a semistructured interview. A thematic analysis of the data revealed three higher order themes, which were called becoming a coach, learning to coach, and lifelong learning and teaching. Across these themes, participants discussed interactions with other coaches and athletes with a disability, learning from mentors and coaching clinics, as well as limited formal educational opportunities they experienced transitioning from athlete to head coach. The findings revealed that they acquired most of their knowledge from a combination of knowledge gained as athletes and informal sources, including trial and error. They also stressed the need for enhanced recruiting of parasport coaches and parasport coach education opportunities that would enhance programs for athletes with physical disabilities, from grassroots to Paralympic levels.

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Reynhout, Georgina, and Mark Carter. "A Pilot Study to Determine the Efficacy of a Social StoryTM Intervention for a Child with Autistic Disorder, Intellectual Disability and Limited Language Skills." Australasian Journal of Special Education 32, no. 2 (September 2008): 161–75. http://dx.doi.org/10.1017/s1030011200025823.

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Social StoriesTM have gained wide acceptance as an intervention for children with autism spectrum disorders (ASD) yet extant research provides only circumscribed empirical evidence in support of their efficacy. While it is claimed that Social Stories may be appropriate to children with significant levels of intellectual disability and basic language skills, limited research has been conducted with this group. This pilot study employed an ABC design using a Social Story intervention to target looking at a book during group reading time. The participant was a child with autistic disorder who had intellectual disability and limited language skills. The intervention was unsuccessful, highlighting the need to further investigate the role that both language skills and intellectual ability play in moderating response to the intervention.

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McKenney, EdD, CTRS, Alexis. "“Vorrei Prendere Il Treno!” (I Want to Take the Train): A narrative about how one Inclusive Recreation Services study abroad course helped students to understand challenges people with disabilities confront while traveling abroad." American Journal of Recreation Therapy 14, no. 1 (February 12, 2017): 13. http://dx.doi.org/10.5055/ajrt.2015.0088.

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It was Florida International University's most unusual study abroad course this year. Compared to most study abroad programs that focus on art and culture, the Inclusive Recreation Services course, taught in Miami, FL; Florence, Italy; and Paris, France, focused on challenges people with disabilities confront while traveling. In addition to learning about disability groups, attitudes about disabilities, accessibility and recreation programming, and the Americans with Disabilities Act, this class included a review of, and comparison to, Italian and French disability laws, as well as hands on experiences designed to give students a perspective gained from experiencing challenges associated with accessing buildings, roads, and public transportation in cities with extensive histories. This article provides a description of select learning activities and information learned presented in a narrative format.

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Drumond Andrade, Flávia Cristina, Ahmad Iqmer Nashriq Mohd Nazan, Maria Lúcia Lebrão, and Yeda Aparecida de Oliveira Duarte. "The Impact of Body Mass Index and Weight Changes on Disability Transitions and Mortality in Brazilian Older Adults." Journal of Aging Research 2013 (2013): 1–11. http://dx.doi.org/10.1155/2013/905094.

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The aim of this study was to examine the association between body mass index and weight changes on disability transitions and mortality among Brazilian older adults. Longitudinal data from the Health, Well-Being, and Aging in Latin America and the Caribbean Study conducted in São Paulo, Brazil (2000 and 2006), were used to examine the impact of obesity on disability and mortality and of weight changes on health transitions related to disability. Logistic and multinomial regression models were used in the analyses. Individuals who were obese were more likely than those of normal weight to have limitations on activities of daily living (ADL), instrumental activity of daily living (IADL), and Nagi's limitations. Obesity was associated with higher incidence of ADL and IADL limitations and with lower recovery from Nagi's limitations. Compared to those who maintained their weight, those who gained weight experienced higher incidence of ADL and Nagi's limitations, even after controlling for initial body mass index. Higher mortality among overweight individuals was only found when the reference category was “remaining free of Nagi limitations.” The findings of the study underline the importance of maintaining normal weight for preventing disability at older ages.

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Castell, L. "Adapting Building Design to Access by Individuals with Intellectual Disability." Construction Economics and Building 8, no. 1 (November 23, 2012): 11–22. http://dx.doi.org/10.5130/ajceb.v8i1.2994.

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Over the last 15 years, since introductionof the Disability Discrimination Act (DDA)(Commonwealth Government of Australia,1992), there has been much discussionabout the extent and nature of buildingaccess for the disabled, particularly inresponse to proposed revisions to theBuilding Code of Australia (BCA) and theintroduction of a Premises Standardcovering building access. Much of theargument which contributed to the twoyear delay in submitting a final version ofthese documents for government approvalrelated to the extent of access provisionsand the burden of cost. The final versionsubmitted to government by the AustralianBuilding Codes Board (ABCB) (notreleased publicly) appears to still containinconsistencies between the DDA and theBCA in several areas such as wayfindingand egress.In the debate preceding submission of thefinal version there appears to have beenlittle reference to access requirements forindividuals with intellectual disability (ID).This may be due to a general lack ofresearch on the topic. Consequently, thispaper uses a combination of theknowledge gained from a limited numberof previous wayfinding studies, literaturedescribing general problems faced bythose with ID and the author’s personalexperience observing others with ID tocreate a list of probable difficulties andsuggested solutions. The paperconcludes with a discussion about theassociated cost implications and benefitsin providing the required access.

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Frank, A. O. "The Family and Disability - Some Reflections on Culture: Discussion Paper." Journal of the Royal Society of Medicine 82, no. 11 (November 1989): 666–68. http://dx.doi.org/10.1177/014107688908201111.

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Severe congenital impairments in one child will affect the whole family, possibly for a generation if the child remains at home as an adult. Disability acquired in adult life will affect both partners as roles are gained or relinquished. For children this may result in a loss of parenting. The adjustment process to any psychological or personality changes may be very painful, particularly if children have no one outside the family to provide informed support. Acquired illness or disability in children may have enormous consequences for siblings, the health of the parents and the whole fabric of family life, often resulting in family isolation. In some Asian families, the feeling that the extended family unit is self sufficient and able to provide care may conflict with the ideal of increasing independence fostered by the professionals, and limit the possibility of support from social workers or psychologists. The extended family may reduce the need for statutory support. The expectation that care will be provided to old people by their daughters or daughters-in-law may be frustrated if the younger generation of women are disabled or otherwise engaged, resulting in possible family strife or rejection.

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Kundu, GK. "Neurologic Wilsons Disease and its Management - An Update." Bangladesh Journal of Child Health 37, no. 3 (April 18, 2014): 158–69. http://dx.doi.org/10.3329/bjch.v37i3.18620.

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Wilsons disease is an inborn error of copper metabolism caused by mutations in the ATP7B gene. The disease has an autosomal recessive mode of inheritance and is characterized by excessive copper deposition, predominantly in the liver and brain. Clinical manifestations of neurologic Wilsons disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosis. Among neurodegenerative disorders. WD is preventable and treatable if they are diagnosed treated early. Untreated case of Wilsons disease progresses to severe neurologic disability and death, while those adequately treated have normal life spans. The traditional treatment for WD is based on copper chelation with agents such as D-penicillamine, but use of this drug has been questioned because of reported side effects. The use of agents such as Zinec, trientine and ammonium tetrathiomolybdate has been advocated, although results of long-term trials are awaited. This review focuses on the neurologic features of Wilsons disease and treatment options. DOI: http://dx.doi.org/10.3329/bjch.v37i3.18620 Bangladesh J Child Health 2013; Vol.37(3): 158-169

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George, Jithin, Pushpagiri Sandhya, Kizhakethil Velliyatil Sajitha, and Soumya Sundaram. "Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria." BMJ Case Reports 14, no. 7 (July 2021): e244038. http://dx.doi.org/10.1136/bcr-2021-244038.

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L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase (L2HGDH) enzyme. Dystonia, ataxia, pyramidal involvement and seizures are the common clinical manifestations. Coexisting behavioural problems and intellectual disability are also seen, however attention deficit hyperactivity disorder (ADHD) as the presenting clinical feature in L2HGA is rarely described. Here, we report a 5-year-old boy with behavioural problems and mild language delay. On clinical assessment, he fulfilled the diagnostic criteria for ADHD. His MR brain sequences showed classical finding of L2HGA—bilateral symmetrical T2-weighted hyperintensity involving subcortical white matter, basal ganglia and dentate nucleus. Urine analysis showed increased levels of 2-hydroxyglutaric acid and exome sequencing (targeted leukodystrophy panel) revealed homozygous likely pathogenic mutation in L2HGDH. He was started on high dose of riboflavin and levocarnitine and rehabilitative measures with which he had improvement in behavioural symptoms. This case illustrates the pivotol role of MR brain imaging in the diagnosis of inborn errors of metabolism.

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McAnaney, Donal, and Blake Williams. "Internalising Disability Management: Using Action Research to Explore Organisational Change Processes." International Journal of Disability Management 5, no. 2 (December 1, 2010): 32–39. http://dx.doi.org/10.1375/jdmr.5.2.32.

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AbstractInternalising disability management (DM) processes into an organisation needs careful planning and preparation particularly where the existing practice is to outsource DM services and supports to third-party providers. By using an action research methodology, the implementation process of an early intervention and rehabilitation pilot project in a large North American multisite health provider was tracked and monitored. An action researcher, who was the staff member responsible for line managing the DM pilot, kept an action research journal in which the actions taken, outcomes achieved, issues arising, insight gained and successful responses were regularly recorded over the initial phase of the pilot project. Organisational impact indicators for the pilot project were very positive. A content analysis of the action research journal revealed key components in a successful company DM program, the challenges faced when introducing a new program where pre-existing programs and policies exist, challenges arising from project implementation and mechanisms and strategies that worked well. The action research approach provided a useful insight into the day-to-day issues to be addressed when internalising DM into a large multisite organisation.

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Fanelli, Fabrizio, Emanuele Boatta, Pierleone Lucatelli, and Roberto Passariello. "Limiting Complications During Carotid Artery Stenting in Complex Lesions." Interventional Cardiology Review 5, no. 1 (2010): 66. http://dx.doi.org/10.15420/icr.2010.5.1.66.

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Stroke is the third leading cause of death and permanent disability in the US and Europe. During the last decade, carotid artery stenting (CAS) has gained a role as an alternative option to carotid endoarterectomy (CEA). Both patient selection and plaque morphology are crucial to reduce the risk of complications. Technical aspects such as the employment and selection of different types of cerebral protection devices, distal occlusion balloons, filters, proximal protection systems and stent selection will be widely discussed.

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Robine, Jean-Marie, Isabelle Romieu, and Emmanuelle Cambois. "Health expectancies and current research." Reviews in Clinical Gerontology 7, no. 1 (January 1997): 73–81. http://dx.doi.org/10.1017/s0959259897000087.

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In many developed and developing countries, life expectancy has greatly increased over the last two decades. However, this seemingly favourable change raises new questions concerning the quality of the years of life gained, particularly in the elderly. Do the individuals who escape death accumulate disabilities, sequelae of accidents or consequences of chronic diseases? The concept of disability-free life expectancy, and more widely that of health expectancy, has been developed in order to answer this question.

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Mann, Alison, Philip Sugarman, Carol Rooney, Mary Goodman, and Jim Lynch. "Service innovation: policing mental health – the St Andrew's scheme." Psychiatric Bulletin 31, no. 3 (March 2007): 97–98. http://dx.doi.org/10.1192/pb.bp.106.011007.

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Assaults against healthcare staff have gained increasing attention, prompting the Zero Tolerance Zone campaign in the National Health Service (NHS) (Department of Health, 1999). This advised that treatment could be withheld as a sanction, although not from ‘anyone who is mentally ill or under the influence of drugs'. More recently the NHS Security Management Service (Department of Health, 2005) found that the greatest number of assaults (over 43 000) were found in mental health and learning disability environments.

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Gaskin, Cadeyrn J., Davina Taylor, Susan Kinnear, Julie Mann, Wendy Hillman, and Monica Moran. "Factors Associated with the Climate Change Vulnerability and the Adaptive Capacity of People with Disability: A Systematic Review." Weather, Climate, and Society 9, no. 4 (October 1, 2017): 801–14. http://dx.doi.org/10.1175/wcas-d-16-0126.1.

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Abstract People with disability experience multidimensional inequalities, which heighten their vulnerability to climate change. An understanding of the vulnerability and adaptive capacity of people with disability can be gained through considering how they have fared during the types of events associated with climate change, such as droughts, floods, heat waves, hurricanes, and wildfires. A systematic review was conducted to identify factors associated with climate change vulnerability and adaptive capacity of people with disability. Papers were sourced from 12 electronic databases, the Google search engine, the websites of 21 organizations, and the reference lists of included papers; 34 papers (relating to 28 studies) met the selection criteria. Most studies were located in the United States, and almost half were focused on hurricane events. Factors contributing to vulnerability included personal factors (e.g., female gender, uncoupled or living alone, nonwhite ethnicity, and low income), environmental factors (commonly, limited practical support from government agencies and disability organizations), bodily impairments (cognitive impairments, hearing impairments, progression of impairments, relapse/exacerbation of symptoms, and thermoregulation difficulties), and activity limitations and participation restrictions (limited preparedness, difficulties with evacuation, and difficulties reassembling individual accommodations and repairing or replacing adaptive equipment). Factors relating to their adaptive capacity included personal factors (e.g., formal education), environmental factors (practical support from mainstream organizations, disability organizations, family, and friends), and activities and participation (emergency planning, keeping an emergency pack, and seeking information). People with disability are vulnerable to climate change largely due to inequalities and their exclusion from adaptation and mitigation efforts.

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Hidayah, Nurul, Baiq Fitria Rahmiati, Junendri Ardian, M. Thonthowi Jauhari, Qurratu Aini, M. Zulfikar Al-fariqi, Regina Pricilia Yunika, and M. Kevin Saputra. "The Important of Improving a Nutritional Status for Children with Disabilities." ADMA : Jurnal Pengabdian dan Pemberdayaan Masyarakat 1, no. 1 (July 10, 2020): 11–18. http://dx.doi.org/10.30812/adma.v1i1.815.

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Disability is a special condition faced by some people. West Nusa Tenggara is at the top ten highest percentages for this special issue. This voluntary program was carried out to educate people how to maintain the diets of children in a special condition. The sharing programme was done by conducted a presentation, discussion, checking a height and weight and consultation. It was obtained that almost all parents having a kids with disability did not understand and were not aware how to prepare and choose food for their children. Approximately all children with a special issue at LombokCare community did not meet the standard height-for-age of World Health Organization (WHO), meaning that they were stunted. Therefore, a new insight and better care practices were gained by the parents in order to control and prepare the balanced diets of their special children.

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Journal articles on the topic 'Inborn and gained disability'

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