We report a 4-year-old girl with a de novo, apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus, and joint laxity. She is developmentally delayed, with language and cognitive skills approximately 2 SD below the mean expected for her age, and meets ADI, ADOS, and DSM-IV criteria for pervasive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(l0) has two 8p segments collectively from 8p12-pter in that the segment 8p21.3-pter is translocated onto 10p12.32 and the segment 8p12-p21.3 is inserted at 10p11.23. FISH analysis showed no microdeletion of the major locus at 22q11.2 nor for the minor locus at 10p13p14. This case suggests that aberrations at 8p12, 8p21.3, 10p11.23 and/or 10p12.32 may result in pervasive developmental disorder, associated with mild cognitive delay and specific facial anomalies.
Non-fiction filming involving death and dying has taboo status in terms of what western society can and cannot sanction – the image of dying is not something we should see, or even want to see. As a consequence, there is very little film-making done with the consent and collaboration of the dying person and there are few moving images of natural or good deaths. The documentary film-makers and artists who have navigated this difficult ethical territory, engendering a space where dying and death can be given images, have done so by adopting a way of seeing, and being with, the terminally ill person that has some confederacy with the practices of the palliative care professional. Drawing upon the writing of Vivian Sobchack and Ernest Becker, as well as Giorgio Agamben’s theory of bare life, and particularly Emmanuel Levinas and his concept of alterity, the article concentrates on art and film that turns to face death and dying. Moving through narrative cinema, observational documentary and artists’ film, and examining specific film works by Stan Brakhage, Sophie Calle, Kirby Dick, Allan King and Bill Viola, among others, the complex area between ethics and aesthetics is explored, suggesting that in the context of film and death there can be an ethics of aesthetics.
Care in the last days Conclusion Phyllis Tuckwell Hospice Care provides supportive and end of life care for patients and families living with a terminal illness.
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