Disability Culture And Society Discussion Development

Disability Culture And Societydiscussion Discussion Developmental

Disability, Culture, and Society Discussion: Discussion: Developmental and cognitive impairments and disablement Like many of the impairments we've addressed this quarter, Autism is described as being on a spectrum. What do you think might be the positive and negative consequences of this description? For instance, what could be gained or lost by suggesting that some people are "more" autistic while others are "less"? Many autistic activists and self-advocates reject the conception of autism as a "spectrum disorder" in favor of understanding it as neurodiversity, meaning that the ways of thinking and experiencing that are associated with autism are valid and should be respected rather than erased. If autism is so difficult - as many medical and therapeutic professionals suggest - why would they say this? While the points above are true, many parents and care-givers of "severely" autistic people have described autism as a hardship, burden, or something to fear and destroy. Indeed, in the fall of 2012 alone, roughly 25 autistic children were killed by their parents/care-givers in the Canadian province of Ontario, none of them were convicted of a crime. How might we reconcile these drastically different understandings of, and reactions to, autism? Reading: 1. Ronald Berger, Introducing Disability Studies. 2. Clare, Eli. (2018). Brilliant Imperfections . Cognitive and Developmental Impairments and Disability chapter(s) from Mackelbrang & Salsgiver Videos: 1. Self-Advocacy link: 2. Tia Nelis link: Temple Grandin link: . This video is a TED talk by Temple Grandin, a famous scientist, and autism advocate. Note how Grandin embraces autism and consider how applying the social model of disability to people on the autism spectrum can create opportunities for autistic people and benefit society. 4. Autism Speaks, But Not For Me link: 5. In My Language link: 6. When Billy Broke His Head link: Neurodiversity link: Teaching Under the Table link: GROUP 1: Case 967-- A Teenage Female with an Ovarian Mass CLINICAL HISTORY A teenage female presented with secondary amenorrhea ( ). The patient had 1 menstrual cycle 3 years ago and has had no menses since. Laboratory work-up was negative for pregnancy test, mildly increased calcium level (11.7 mg/dL, normal range: 8.5-10.2 mg/dL) and CA Units/ml, normal range: 0-20 Units/ml). Prolactin, TSH, AFP, Inhibin A, Inhibin B and CEA were normal. Imaging revealed a 13 x 11.8 x 8.6 cm, predominately cystic left pelvis mass, with multiple internal septations. Her past medical history was not contributory. Patient underwent left salpingo-oophorectomy ( ), omentectomy ( ) and tumor debulking ( ) with intraoperative frozen section consultation. GROSS EXAMINATION The 930.9 g tubo-ovarian complex consisted of a 20.0 x 16.0 x 8.0 cm large mass, with no recognizable normal ovarian parenchyma grossly and an unremarkable fallopian tube. The cut surface was gray, "fish-flesh", soft with foci of hemorrhage and necrosis. MICROSCOPIC EXAMINATION Microscopically, the majority of main tumor was growing in large nests, sheets and cords with focal follicle-like structures and geographic areas of necrosis. It was predominantly composed of small cells with hyperchromatic nuclei , round to oval nucleus with irregular nuclear contour, inconspicuous to occasional conspicuous nucleoli and minimal cytoplasm. This component was variably admixed with a population of larger cells, which as the name implies composed of cells with abundant eosinophilic cytoplasm, with central or eccentric round to oval nuclei, pale chromatin and prominent nuclei. Both, the small and large cell components demonstrated brisk mitotic activity. All staging biopsies and omentectomy were composed of large cell component. An extensive panel of immunohistochemical stains was performed. Overall, the staining pattern was strong and diffuse in small cell component compared to patchy weak staining pattern in the large cell component. FINAL DIAGNOSIS Small cell carcinoma ( ) of the ovary, hypercalcemic type ( ) DISCUSSION Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive and highly malignant tumor affecting the women under 40. It was first described as a distinct entity by Dickersin et al in ). Fewer than 500 cases have been described in the literature and it accounts for less than 1% of all ovarian cancer diagnoses. Due to the initial consideration of epithelial origin, the term of SCCOHT has been used to distinguish this entity from its mimicker, the neuroendocrine or pulmonary type (2). In fact epithelial origin of SCCOHT was recently challenged as new immunostains and molecular studies become available. Sex cord, germ cell or neuroendocrine origin has been suggested and SCCOHT is currently listed within the category of miscellaneous ovarian neoplasms in 2014 World Health Organization (WHO) classification (3). Clinically, SCCOHT are generally diagnosed in second or third decades of life (peak at 18-30 years) . Rare familial cases have also been reported (4). The symptom is non-specific and is those related to an abdominal or pelvic mass. Approximately two-thirds patients have hypercalcemia and one-third of patients presents with signs of hypercalcemia ( ). SCCOHT is predominately unilateral, although familial cases can be bilateral. Macroscopically, the tumor is usually large predominately solid, tan, or cream-colored with foci of cystic degeneration. Areas of hemorrhage or necrosis are commonly seen. Microscopically, the tumor is often composed of diffuse growth of closely packed neoplastic cells with round to oval hyperchromatic nuclei and minimal cytoplasm resembling in a "small round blue cell" appearance. Other growth patterns such as nests, cords, clusters or single cells can be present. Follicle-like structures containing eosinophilic, or rarely basophilic, fluid are seen in ~ 80% of cases. In up to 50% of cases, a component of large cells with abundant eosinophilic cytoplasm, eccentric pale nuclei with prominent nucleoli can be present focally, predominately or exclusively, resulting in a rhabdoid appearance. In those cases with large cell component, SCCOHT shows striking morphologic similarity to malignant atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) and malignant renal rhabdoid tumor (MRT). Immunohistochemical studies have described a rather non-specific profile of variably positive staining for EMA, pan-keratin, WT1, calretinin, P53 and CD10 and negativity for desmin, S100, ?-inhibin and TTF-1. Variable immunohistochemical staining for neuroendocrine markers has been reported. In 2014, 3 separate groups discovered that SCCOHT is characterized by deleterious mutation of SMARCA4, which encodes the BRG1 protein (5-7). Loss of expression of SMARCA4 (BRG1) on immunohistochemistry is considered highly sensitive and specific for the diagnosis of SCCOHT (8,9). Interestingly, genetic alteration of SMARCA4 are also frequent present in malignant rhabdoid tumors. Given the morphologic and genetic similarity, some authors propose to rename SCCOHT as 'malignant rhabdoid tumor of the ovary' (10). The differential diagnosis of SCCOHT includes numerous other tumors that occurs in young women including juvenile and adult granulosa cell tumor, poorly-differentiated or unclassified Steroli-Leydig cell tumor, desmoplastic small round cell tumor, Ewing family of tumors, lymphoma, ovarian small cell carcinoma of pulmonary type, metastatic melanoma, etc. SCCOHT is usually distinguished from these mimickers by its unique clinical presentation, histological appearance, immunophenotype and cytogenetic characteristics, especially the loss of nuclear expression of BRG1. SCCOHT has a very poor prognosis, with a 33% survival rate when diagnosed at an early stage and a much more dismal prognosis with advanced stage at diagnosis. The traditional management includes surgical resection, followed by multiple adjuvant chemotherapy. The favorable prognostic parameters include increased age at diagnosis, normal serum calcium at presentation, no large cell component and small tumor size (