Author(s):  
Jane Buckingham

Historical analyses, as well as more contemporary examples of disability and work, show that the experience of disability is always culturally and historically mediated, but that class—in the sense of economic status—plays a major role in the way impairment is experienced as disabling. Although there is little published on disability history in India, the history of the Indian experience of caste disability demonstrates the centrality of work in the social and economic expression of stigma and marginalization. An Indian perspective supports the challenge to the dominant Western view that modern concepts of disability have their origins in the Industrial Revolution. Linkage between disability, incapacity to work, and low socioeconomic status are evident in India, which did not undergo the workplace changes associated with industrialization in the West.


2015 ◽  
pp. 108-134 ◽  
Author(s):  
Aimi Hamraie

In this article, I argue for historical epistemology as a methodology for critical disability studies (DS) by examining Foucault’s archaeology of cure in History of Madness. Although the moral, medical, and social models of disability frame disability history as an advancement upon moral and medical authority and a replacement of it by sociopolitical knowledge, I argue that the more comprehensive frame in which these models circulate—the “models framework”—requires the more nuanced approach that historical epistemology offers. In particular, the models framework requires greater use of epistemology as an analytical tool for understanding the historical construction of disability. Thus, I turn to Foucault’s History of Madness in order to both excavate one particular archaeological strand in the text—the archaeology of cure—and to demonstrate how this narrative disrupts some of the key assumptions of the models framework, challenging DS to consider the epistemological force of non-medical fields of knowledge for framing disability and procedures for its cure and elimination. I conclude by arguing that DS must develop historical epistemological methodologies that are sensitive to the complex overlays of moral, medical, and social knowledge, as well as attend to the social construction of scientific and biomedical knowledge itself.


2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.


Author(s):  
Meera Roy ◽  
Ashok Roy ◽  
Priyanka Tharian ◽  
Ameeta Retzer

This chapter will outline the legal and practical principles that inform safeguarding and ethical practice for people with intellectual disability (ID) in the UK. The legal foundations for practice are discussed, drawing first on their foundations in international human rights law, the impact this has had on domestic law and the development of legislation to protect the rights of those with ID. Next, the current policy and principles that underpin ongoing practice are discussed, beginning with the particular history of people with ID and how understanding of ID has since evolved. Case examples are provided throughout to demonstrate these concepts in practice.


2018 ◽  
Vol 86 (2) ◽  
pp. 189-190
Author(s):  
Ananthanarayanan Kasinathan ◽  
Zaheen Zehra ◽  
Jagadeesh Anbazhagan ◽  
P Soundararajan

Genes ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 51
Author(s):  
Nekane Ibarluzea ◽  
Ana Belén de la Hoz ◽  
Olatz Villate ◽  
Isabel Llano ◽  
Intzane Ocio ◽  
...  

X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with ID. Over the past decade, next-generation sequencing has clearly stimulated the gene discovery process and has become part of the diagnostic procedure. We have performed targeted next-generation sequencing of 82 XLID genes on 61 non-related male patients with suggestive non-syndromic XLID. These patients were initially referred to the molecular genetics laboratory to exclude Fragile X Syndrome. The cohort includes 47 male patients with suggestive X-linked family history of ID meaning that they had half-brothers or maternal cousins or uncles affected; and 14 male patients with ID and affected brothers whose mothers show skewed X-inactivation. Sequencing data analysis identified 17 candidate variants in 16 patients. Seven families could be re-contacted and variant segregation analysis of the respective eight candidate variants was performed: HUWE1, IQSEC2, MAOA, MED12, PHF8, SLC6A8, SLC9A6, and SYN1. Our results show the utility of targeted next-generation sequencing in unravelling the genetic origin of XLID, especially in retrospective cases. Variant segregation and additional studies like RNA sequencing and biochemical assays also helped in re-evaluating and further classifying the genetic variants found.


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