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Auswahl der wissenschaftlichen Literatur zum Thema „Inborn and gained disability“
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Zeitschriftenartikel zum Thema "Inborn and gained disability"
1
van Karnebeek, Clara D. M., und Sylvia Stockler. „Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review“. Molecular Genetics and Metabolism 105, Nr. 3 (März 2012): 368–81. http://dx.doi.org/10.1016/j.ymgme.2011.11.191.
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2
Ferdous, Md, Abu Syeed und Md Gofranul Hoque. „Acute Intermittent Porphyria: A Rare Inborn Error of Haem Metabolism“. Medicine Today 25, Nr. 2 (10.02.2014): 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
3
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, Nr. 4 (02.04.2020): 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.
4
Lejzerowicz, Magda. „Identity and its reconstruction and disabled people“. International Journal on Disability and Human Development 16, Nr. 1 (01.02.2017): 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., und Adrienne A. Gilbert. „Leisure, Health, and Disability: A Review and Discussion“. Canadian Journal of Community Mental Health 9, Nr. 2 (01.09.1990): 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 und Carol Jagger. „Trends in Health Expectancies by Late-Life Disadvantage: The Cognitive Function and Ageing Studies“. Innovation in Aging 4, Supplement_1 (01.12.2020): 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, und 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, Nr. 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, Nr. 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 und David Cohen. „Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid“. CNS Spectrums 15, Nr. 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 und L. A. Karamzina. „Neonatal Screening for Monogenic Inborn Pathology in Ukraine“. Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 5, Nr. 6 (12.12.2020): 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
Dissertationen zum Thema "Inborn and gained disability"
1
Benda, Aleš. „Rodina dítěte s postižením“. Master's thesis, 2021. http://www.nusl.cz/ntk/nusl-446053.
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This thesis deals with families of a child with inborn and gained disability. The core of the work lies in text analysis based upon a discussion with two mothers with a child with a disability. The analysis pays particular attention to the way of coping with such a difficult life situation. Further it focuses on inner and external factors that help to acquire back a life well- being of those mothers. Theoretical part contains a family theme, specifics of raising and education of a child with a disability and coping strategies. The aim of this work is to be utilised as a source of inspiration for those families that are going through similar life situation.
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„Inherited metabolic diseases in Hong Kong“. Chinese University of Hong Kong, 1995. http://library.cuhk.edu.hk/record=b5888258.
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Lai Ching Ha.Thesis (Ph.D.)--Chinese University of Hong Kong, 1995.
Includes bibliographical references (leaves 225-243).
Title --- p.1
Abstract --- p.2
Acknowledgments --- p.4
Contents --- p.5
Abbreviations --- p.10
List of Figures --- p.12
List of Tables --- p.15
Chapter Chapter 1 --- Review on Inherited Metabolic Diseases --- p.18
Chapter 1.1 --- Development of the concept of inherited metabolic diseases (IMD) --- p.18
Chapter 1.2 --- Frequency of inherited metabolic diseases --- p.20
Chapter 1.3 --- Molecular basis of mutations in inherited metabolic diseases --- p.22
Chapter 1.3.1 --- Point mutations --- p.22
Chapter 1.3.2 --- Small deletions and insertions --- p.25
Chapter 1.3.3 --- large deletions or duplications --- p.26
Chapter 1.4 --- Pathological consequences of protein defect resultingin IMD --- p.27
Chapter 1.4.1 --- End product --- p.28
Chapter 1.4.2 --- Precursor accumulation --- p.28
Chapter 1.4.3 --- Unusual metabolites --- p.29
Chapter 1.5 --- Heterogeneity of inherited metabolic diseases --- p.29
Chapter 1.5.1 --- Genetic heterogeneity --- p.29
Chapter 1.5.2 --- Variations of expression in different cells --- p.31
Chapter 1.6 --- Diagnosis of inherited metabolic diseases --- p.32
Chapter 1.6.1. --- Biochemical investigations --- p.32
Chapter 1.6.2 --- Identification of accumulated or missing metabolites --- p.33
Chapter 1.6.3 --- Direct analysis of enzymes and proteins --- p.34
Chapter 1.6.4 --- Molecular investigations --- p.34
Chapter 1.7 --- Treatment of inherited metabolic diseases --- p.40
Chapter 1.7.1 --- Treatment at the clinical phenotype level --- p.41
Chapter 1.7.2 --- Treatment at the metabolite level --- p.41
Chapter 1.7.3 --- Treatment at the dysfunctional protein level --- p.43
Chapter 1.7.4 --- Transplantation --- p.44
Chapter 1.7.5 --- Gene therapy --- p.45
Chapter 1.8 --- Inherited metabolic diseases in Hong Kong --- p.47
Chapter 1.9 --- General Aim --- p.48
Chapter Chapter 2 --- Study of Inherited Metabolic Diseases in Mentally Retarded Patients --- p.49
Chapter 2.1 --- Introduction --- p.49
Chapter 2.2 --- Aim --- p.52
Chapter 2.3 --- Materials --- p.53
Chapter 2.3.1 --- Standards --- p.53
Chapter 2.3.2 --- Chemical reagents --- p.53
Chapter 2.3.3 --- Derivatization reagents --- p.54
Chapter 2.3.4 --- Major equipment --- p.54
Chapter 2.4 --- Clinical materials --- p.56
Chapter 2.4.1 --- Subjects --- p.55
Chapter 2.4.2 --- Blood and urine samples --- p.56
Chapter 2.5 --- Methods --- p.57
Chapter 2.5.1 --- General biochemistry tests --- p.57
Chapter 2.5.2 --- Metabolic screening tests --- p.57
Chapter 2.5.3 --- Two-dimensional thin layer chromatography --- p.53
Chapter 2.5.4 --- Identification of urinary organic acids by gas chromatography mass spectroscopy --- p.59
Chapter 2.5.5 --- Amino acid analysis by high performance liquid chromatography --- p.66
Chapter 2.6 --- Results --- p.71
Chapter (A) --- Methodological Aspects
Chapter 2.6.1 --- Identification of urinary organic acids by gas chromatography-mass spectroscopy (GC-MS) --- p.71
Chapter 2.6.2 --- Amino acid analysis by high performance liquid chromatography (HPLC) --- p.86
Chapter (B) --- Patient Investigations
Chapter 2.6.3 --- General biochemistry tests --- p.107
Chapter 2.6.4 --- Serum amino acid profiles --- p.113
Chapter 2.6.5 --- Urinary organic acid analysis --- p.115
Chapter 2.6.6 --- Case reports --- p.119
Chapter 2.7 --- Discussion --- p.123
Chapter 2.7.1 --- Identification of urinary organic acids by gas chromatography-mass spectroscopy (GC-MS) --- p.123
Chapter 2.7.2. --- Amino acid analysis by high performance liquid chromatography (HPLC) --- p.130
Chapter 2.7.3 --- Identification of inherited metabolic diseases (IMD)in an institutionalized mentally retarded patients --- p.136
Chapter Chapter 3 --- Molecular Investigation of Maple Syrup Urine Disease --- p.140
Chapter 3.1 --- Introduction --- p.140
Chapter 3.1.1 --- Branched chain amino acids (BCAA) --- p.140
Chapter 3.1.2 --- Metabolism of branched chain amino acids --- p.142
Chapter 3.1.3 --- Maple syrup urine disease (MSUD) --- p.144
Chapter 3.1.4 --- Classification of maple syrup urine disease --- p.146
Chapter 3.1.5 --- Screening and diagnosis of maple syrup urine disease --- p.148
Chapter 3.1.6 --- Treatment of maple syrup urine disease --- p.150
Chapter 3.1.7. --- Branched chain a-ketoacid dehydrogenase complex (BCKDH) --- p.151
Chapter 3.1.8 --- "Gene features of human E1α,E1β and E2 subunitsin branched chain α-ketoacid dehydrogenase complex" --- p.153
Chapter 3.1.9 --- Molecular defects of the BCKDH gene complex --- p.156
Chapter 3.1.10 --- MSUD in Hong Kong --- p.161
Chapter 3.2 --- Aim --- p.163
Chapter 3.3 --- Materials --- p.164
Chapter 3.3.1 --- Source of skin fibroblasts --- p.164
Chapter 3.3.2 --- Enzymes --- p.164
Chapter 3.3.3 --- DNA markers --- p.164
Chapter 3.3.4 --- Reagent Kits --- p.165
Chapter 3.3.5 --- Primers --- p.165
Chapter 3.3.6 --- Chemical reagents --- p.165
Chapter 3.3.7 --- Nitrocellulose membrane --- p.166
Chapter 3.3.8 --- Antiserum for Western blotting --- p.166
Chapter 3.3.9 --- Radioisotopes --- p.166
Chapter 3.4 --- Methods --- p.168
Chapter 3.4.1 --- Preparation of buffers and solutions --- p.168
Chapter 3.4.2 --- Agarose gel electrophoresis --- p.170
Chapter 3.4.3 --- Preparation of native polyacrylamide gel --- p.171
Chapter 3.4.4 --- Preparation of sodium dodecyl sulfate (SDS) polyacrylamide gel --- p.172
Chapter 3.4.5 --- Preparation of denaturing polyacrylamide gel --- p.173
Chapter 3.4.6 --- Branched chain α-ketoacid dehydrogenase complex enzyme assay --- p.173
Chapter 3.4.7. --- Identification of the affected subunits in BCKDH complex of MSUD patient and her family members --- p.176
Chapter 3.4.8 --- Screening of mutation in the BCKDH subunits by RT-PCR-SSCP --- p.178
Chapter 3.4.9 --- Mutation analysis of whole cDNA fragments of Elα， Elβ and E2 subunits by ds DNA cycle sequencing --- p.184
Chapter 3.5 --- Results --- p.188
Chapter 3.5.1 --- Branched chain α-ketoacid dehydrogenase complex enzyme assay --- p.188
Chapter 3.5.2 --- Identification of the affected subunits in BCKDH complex ofMSUD patient and her family members --- p.188
Chapter 3.5.3 --- Screening of mutation in the BCKDH subunits by RT-PCR-SSCP --- p.192
Chapter 3.5.4 --- "Mutation analysis of whole cDNA fragments of Ela, Elβ and E2 subunits by ds DNA cycle sequencing" --- p.204
Chapter 3.6 --- Discussion --- p.210
Chapter 3.6.1 --- BCKDH activity in the MSUD patient and her family members --- p.210
Chapter 3.6.2 --- Investigation of the mutation sites --- p.212
General Conclusion --- p.222
Appendix --- p.224
References --- p.225
Bücher zum Thema "Inborn and gained disability"
1
E, Schwartz Charles, und Schroer Richard J, Hrsg. X-linked mental retardation. New York: Oxford University Press, 2000.
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2
The Sage Handbook Of Developmental Disorders. Sage Publications (CA), 2011.
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3
Kayama, Misa, Wendy Haight, May-Lee Ku, Minhae Cho und Hee Yun Lee. Disability, Stigma, and Children's Developing Selves. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780190844868.001.0001.
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Stigmatization is part of the everyday lives of children with disabilities, their families, and their friends. Negative social encounters, even with perfect strangers, can dampen joyful occasions, add stress to challenging situations, and lead to social isolation. This book describes a program of research spanning a decade that seeks to understand disabilities in their developmental and cultural contexts. The authors are especially interested in understanding adults’ socialization practices that promise to reduce stigmatization in the next generation. Guided by developmental cultural psychology, including the concept of “universalism without uniformity,” the authors focus on the understandings and responses to disability and associated stigmatization of elementary-school educators practicing in Japan, South Korea, Taiwan, and the U.S. Educators from all four cultural groups expressed strikingly similar concerns about the impact of stigmatization on the emerging cultural self, both of children with disabilities and their typically developing peers. Educators also described culturally nuanced socialization goals and practices pertaining to inclusive education. In Japan, for instance, educators emphasized the importance of peer group belonging and strategies to support the participation of children with disabilities. In the U.S., educators placed relatively more emphasis on individual development and discussed strategies for the equitable treatment of children with disabilities. Educators in South Korea and Taiwan emphasized the cultivation of compassion in typically developing children. The understanding gained through examination of how diverse individuals address common challenges using cultural resources available in their everyday lives provides important lessons for strengthening theory, policy, and programs.
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de Beco, Gauthier. Disability in International Human Rights Law. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780198824503.001.0001.
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This book examines what international human rights law has gained from the new elements in the UN Convention on the Rights of Persons (CRPD). It explores how the CRPD is intricately bound up with other international instruments by studying the relationship between the Convention rights and those protected by other human rights treaties as well as the overall objectives of the UN. Using a social model lens on disability, the book shows how the Convention sheds new light on the very notion of human rights. In order to so, the book provides a theoretical framework which explicitly integrates disability into international human rights law. It explains how the CRPD challenges the legal subject by drawing attention to distinct forms of embodiment, before introducing the idea of the ‘dis-abled subject’ stemming from a recognition that all individuals encounter disability-related issues in the course of their lives. The book also examines how to apply this theoretical framework to a number of rights and highlights the consequences for the implementation of human rights treaties as a whole. It not only builds upon available literature straddling different fields, which include disability studies and legal and political theory, but also draws upon the recommendations of treaty bodies and reports of UN agencies as well as disabled people’s organisations. The book provides an agenda-setting analysis for all human rights experts by inviting them to appreciate the benefits of placing disabled people at the heart of international human rights law.
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Schutz, Peter W., und Sylvia Stockler. Cerebral Creatine Deficiency Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0065.
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Cerebral creatine deficiency disorders that result in very low levels of creatine in the brain, can cause in intellectual disability, seizures, expressive speech disorder and behavior disorders if not treated in early childhood. CCDDs comprise disorders of creatine synthesis (arginine:glycine [AGAT; MIM 602360]; guanidinoacetate methyltransferase deficiency [GAMT; MIM 601240]) and of creatine transport (SLC6A8 deficiency [SLC6A8; MIM 300036]). Inborn errors of creatine synthesis-but not, as yet, of transport-can be treated by creatine substitution and are thus treatable causes of intellectual disability.
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Miller, Shae. Sexuality, Gender Identity, Fluidity, and Embodiment. Herausgegeben von Holly J. McCammon, Verta Taylor, Jo Reger und Rachel L. Einwohner. Oxford University Press, 2017. http://dx.doi.org/10.1093/oxfordhb/9780190204204.013.13.
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Social movement activists have frequently used a variety of embodied tactics to negotiate cultural conceptions of gender and sexuality, which are in constant flux. This chapter attends to the ways that new social formations of gender and sexuality—including the recent emphases on gender and sexual fluidity—have impacted the politics, goals, tactics, and identities of contemporary women’s movements. Incorporating queer, transgender, critical race, and disability studies, this chapter emphasizes the ways that women seeking to attain gender and sexual justice have used the body both as a site of everyday resistance against repressive gender and sexual norms and as a tool for performing overt political protests. It illustrates how gender and sexual fluidity have gained new traction within social movements and discusses the implications for conceptualizing women’s activism.
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Cheillan, David, und Frédéric Sedel. Disorders of Creatine Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0010.
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Creatine is a physiological guanidino compound playing a major role in energy metabolism in muscle and implicated in neurotransmission in brain. The three disorders of creatine metabolism (AGAT and GAMT deficiencies and the X-linked creatine transporter defect) are a group of inborn errors of metabolism characterized by a depletion of creatine that could be easily diagnosed by mesasurement of guanidinoacetate and creatine in body fluid or cranial MRS spectroscopy. The main clinical features of these paediatric disorders are intellectual disability and speech delay and some adult patients have been described with severe language impairment and mental retardation. Although the X-linked creatine transporter defect is currently not treatable, the clinical symptoms of the two disorders of creatine synthesis should be improved by creatine supplementation emphasizing the importance of an early diagnostic.
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Fraser, Jamie L., Frédéric Sedel und Charles P. Vendetti. Disorders of Cobalamin and Folate Metabolism. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0027.
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Cobalamin C deficiency (cblC) and related disorders of intracellular cobalamin metabolism may present at any time from the prenatal period through adolescence/adulthood and are due to deficiency of the cobalamin cofactors adenosylcobalamin and methylcobalamin. Chronic complications of cblC depend on the age at presentation and may include poor growth, renal dysfunction, neuropsychiatric manifestations, intellectual disability, strokes, progressive leukoencephalopathy and spinal cord degeneration, psychiatric manifestations and executive function deficits, and optic nerve and retinal anomalies. While less common than in isolated MMA, acute metabolic decompensation may occur in cblC patients due to accumulation of methylmalonic acid and associate metabolites and should be managed as in isolated MMA in conjunction with a metabolic consultant. The most common inborn error of folate (vitamin B9) metabolism relevant for adult patients is methylenetetrahydrofolate reductase (MTHFR) deficiency. Manifestations are primarily neurological, but the disorder may present in a substantial number of adults with psychiatric symptoms. Early recognition with adequate treatment is crucial.
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(Editor), Sam Goldstein, und Cecil R. Reynolds (Editor), Hrsg. Handbook of Neurodevelopmental and Genetic Disorders in Children. The Guilford Press, 1999.
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1
Schuster, Johannes, und Nina Kolleck. „Disability as a ‘New’ Global Social Theme: The Role of International Organizations in an Expanding Global Policy Field“. In International Organizations in Global Social Governance, 207–30. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-65439-9_9.
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AbstractDisability as a global social policy issue has gained increasing importance during recent decades, partly due to a shift in conceptualization from a medical to a social perspective on disability. This new relevance has led to the emergence of a global organizational field around the topic, with a high involvement of International Organizations (IOs). In order to investigate the population of IOs in the field, this chapter identifies influential actors, relates them to the main discourses, and maps their relations. It can be seen that agencies of the United Nations have become the key actors in promoting the rights-based social perspective and the monitoring of the implementation of disability rights. In contrast, the World Health Organization is still the leading organization in the provision of medical classification systems. Overall, it can be noted that the organizational field leaves space for IOs to influence the direction of global and national disability policy.
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Stiker, Henri-Jacques. „Bodies lost and bodies gained: the major periods in the history of disability“. In The Clinic of Disability, 147–61. Routledge, 2018. http://dx.doi.org/10.4324/9780429481291-8.
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3
Jarrett, Simon. „‘Belief’, ‘Opinion’, and ‘Knowledge’: The Idiot in Law in the Long Eighteenth Century“. In Intellectual disability. Manchester University Press, 2018. http://dx.doi.org/10.7228/manchester/9781526125316.003.0009.
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This chapter explores the development of the legal concepts of idiocy and imbecility over the eighteenth and nineteenth centuries, examining legal theory as well as evidence from civil court cases to reveal an ongoing conflict between libertarian resistance to state intervention in the lives of citizens, however mentally incapacitated they might be, and a belief that the state should be responsible for protecting individuals against exploitation and the corruption of bloodlines. From the late eighteenth century, French medico-legal theorists, supported by the ‘scientific’ enlightenment ideals of the French revolution, proposed a medicalised appropriation of legal decision-making over capacity. While these ideas gained some currency among a small group of British medical men working in the field of idiocy, they faced strong public and legal resistance throughout the nineteenth century on the grounds of liberty of the subject. Both legal and medical formulations of idiocy in the eighteenth and nineteenth centuries borrowed heavily from popular, ‘common-sense’ public notions about what constituted an idiot.
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Kaski, Markus. „Aetiology of intellectual disability: general issues and prevention“. In New Oxford Textbook of Psychiatry, 1830–38. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199696758.003.0243.
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Intellectual disability can follow any of the biological, environmental, and psychological events that are capable of producing a decline of cognitive functions. Some factors do not directly or inevitably cause intellectual disability but add to the effects of a previous primary cause. Genetic causes may be hereditary or non-hereditary, and may or may not produce specific syndromes. Some lead to inborn errors of metabolism. Causation, how to assess cause, and why knowledge of causation is important is covered in detail, followed by primary, secondary, and tertiary prevention, ethical problems of prevention, and the important of taking preventive aspects into account in all general and specific legislation, in operating procedures, and professional practice.
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Curle, Deirdre, Asmae El Bouhali, Ma Zhu, Sheila Marshall, John Murray, Filomena Parada, Tim Stainton, Jessie Wall, Siwei Wu und Richard A. Young. „The Transition to Adulthood for Individuals With Intellectual Disability“. In Young Adult Development at the School-to-Work Transition, 295–312. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780190941512.003.0013.
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The transition from school to work is a time of excitement and uncertainty for many emerging adults. However, young people with intellectual disability (ID) face unique challenges with this transition. They often need a great deal more support in the activities of daily living, learning, and work. The purpose of this chapter is to examine the transition to adulthood and work through the lens of the intentional, goal-directed processes engaged in by the emerging adult with ID and their families. This examination will involve contextual action theory as the conceptual framework and the relevant literature on emerging adults with ID that speaks to this important transition in its particular social context. Through this framework, a deeper understanding is gained of the meaning involved in the actions that emerging adults and their families take as they navigate the transition to adulthood and work.
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Pousada, Thais, Miriam Piñeiro und Yolanda Vizcaya. „Experiences using Information and Communication Technologies with Children Affected by Cerebral Palsy“. In Handbook of Research on Personal Autonomy Technologies and Disability Informatics, 358–70. IGI Global, 2011. http://dx.doi.org/10.4018/978-1-60566-206-0.ch023.
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Intervention using the New Technologies in children suffering from Infantile Cerebral Palsy (ICP) is aimed at attaining or promoting individual abilities of each user. To this end, all possible means and resources are facilitated to enable them to access communication and thus to attain higher levels of social integration and individual advancement for their personal development. One such resource is In-TIC, assistive software for the creation of virtual keyboards customised to the capabilities of each individual user. The experience gained from the application of this software, in combination with assistive hardware, has made it possible to facilitate and improve the access to and use of computers for children suffering from infantile cerebral palsy in the ASPACE Coruña Centre.
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Petryna, Adriana. „Illness as Work: Human Market Transition“. In Life Exposed. Princeton University Press, 2013. http://dx.doi.org/10.23943/princeton/9780691151663.003.0004.
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This chapter examines the “epidemic” of disability in post-Soviet Ukraine, and more specifically how state laws on the social protection of Chernobyl sufferers have turned suffering and disability into a resource affecting family, work, and social identity. It shows how the line between sickness and health becomes a highly politicized one as traditional forms of Soviet social organization, particularly the labor collective, are being replaced by a new architecture of welfare claims, privileges, laws, and identities. It also discusses the role of the Exclusion Zone in an informal Soviet economy and capitalist transition, as well as the ways in which workers micromanage inflation with a sick role sociality in their everyday lives. Finally, it considers the establishment of medical-labor committees to handle the growing number of disability claims related to the Chernobyl explosion and highlights a city of sufferers where so many individuals have gained their illnesses for life.
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Arrington, Celeste L. „Legal Mobilization and the Transformation of State-Society Relations in South Korea in the Realm of Disability Policy“. In Civil Society and the State in Democratic East Asia. Nieuwe Prinsengracht 89 1018 VR Amsterdam Nederland: Amsterdam University Press, 2020. http://dx.doi.org/10.5117/9789463723930_ch12.
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Since the 1990s, South Koreans have gained better access to the courts as a channel for pursuing social and policy change. In particular, Koreans with disabilities began using the courts to challenge discrimination, enforce their rights, and influence policymaking. Through qualitative comparative analysis of recent legal mobilization by Koreans with disabilities, this chapter investigates factors that influence when and why people mobilize the law. Drawing on sociolegal and social movement theories, it shows that explanations focused on evolving legal opportunity structures – encompassing procedural rules, statutes, and legal interpretations – can only partly explain changing patterns in legal mobilization. Explanations should also consider the ‘support structures’ for legal mobilization: lawyers, advocacy organizations, and funding.
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Kora, Kazuto, Shane Xie und Andrew McDaid. „Human-Inspired Robotic Exoskeleton for Post-Stroke Gait Rehabilitation“. In Advances in Computational Intelligence and Robotics, 316–76. IGI Global, 2015. http://dx.doi.org/10.4018/978-1-4666-7387-8.ch012.
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Stroke is one of the leading causes of physical disability and many suffer paralysis to their limbs. The rehabilitation to recover the function of gait often takes time because the current rehabilitation technique used is labour intensive and time consuming for the therapists and difficult to perform it effectively. In order to improve the gait rehabilitation process, robot assisted gait rehabilitation has gained much interest over the past years. The contributions of this research are the development of new robotic exoskeleton device designed to be lightweight, comfortable, and safe to use for gait rehabilitation for stroke patients, which were lacking in the existing devices. Another contribution is the establishment of new manufacturing technique that allows custom exoskeleton components for each individual patient. Finally, the development of advanced model-based Feedforward (FF) controller that achieves fast and accurate tracking performance is explored in this chapter.
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Vajoczki, Susan, und Susan Watt. „Lecture Capture as a Tool to Enhance Student Accessibility“. In Cases on Online Learning Communities and Beyond, 200–213. IGI Global, 2013. http://dx.doi.org/10.4018/978-1-4666-1936-4.ch011.
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This case examines the incremental introduction of lecture-capture as a learning technology at a research-intensive university with the goal of addressing issues created by increases in both undergraduate enrolments and disability accommodation needs. This process began with podcasting lectures, leading ultimately to a lecture capture system with closed captioning. At each step, the changes were evaluated in terms of their impact on student learning, acceptability to students and faculty, and application to different disciplines. This evidence-based approach is in keeping with the research culture of the academy and has been helpful in advocating for budgetary support and encouraging faculty participation. As a result of this project, the authors unexpectedly gained substantial knowledge about the complexity of students’ lives, the impact of that complexity on their approach to learning, instructor misperceptions about the impact of this form of learning, the presence of many unreported disabilities, and the many different ways in which students used the system.