Distal ventriculoperitoneal shunt failure secondary to clostridium difficile colitis

ManuscriptDistal ventriculoperitoneal shunt obstruction is typically associated with cerebrospinal fluid (CSF) infection, fluid pseudocysts, bowel obstruction, bowel perforation, or improper shunt placement in the abdomen. We describe a unique etiology for distal shunt obstruction secondary to Clostridium difficile pancolitis that occurred because of inflammation and ascites, which led to incomplete drainage and absorption of CSF. This case illustrates the importance of considering distal shunt obstruction in a patient with signs of abdominal pathology in the setting of mental status changes, and the effective treatment of this patient initially with distal catheter externalization followed by internalization of a new distal catheter after resolution of the pancolitis

Choroid plexus cyst development and growth following ventricular shunting

ManuscriptChoroid plexus cysts are typically incidental, asymptomatic cysts. They have been reported to hemorrhage and grow, causing symptoms of obstruction. However, growth and multiplication has not been reported following ventriculoperitoneal shunting procedures. A 66-year-old woman initially underwent a suboccipital retrosigmoid craniotomy for resection of a large petroclival meningioma. Preoperatively, the patient demonstrated imaging findings consistent with hydrocephalus. After surgery the patient required a ventriculoperitoneal shunt. Two years after the initial shunting procedure, imaging demonstrated significant growth of new bilateral choroid plexus cysts as compared with pre-shunt imaging. Post-shunt imaging also demonstrated evidence of diffuse dural enhancement characteristic of intracranial hypotension. Despite radiographic growth and multiplication of the cysts, the patient was clinically asymptomatic and had a good neurological outcome

Hemorrhagic and nonhemorrhagic Rathke cleft cysts mimicking pituitary apoplexy

Journal ArticleObject. Rathke cleft cysts (RCCs) are infrequently symptomatic, and apoplexy is one of the most unusual presentations. Only a few cases of apoplexy associated with RCCs have been reported, and their clinical, imaging, surgical, and pathological features are poorly understood. In the cases that have been reported, intracystic hemorrhage has been a consistent finding. The authors report 6 cases of RCCs in which the presenting clinical and imaging features indicated pituitary apoplexy, both with and without intracystic hemorrhage. Methods. The authors retrospectively reviewed charts and magnetic resonance (MR) imaging studies obtained in patients who underwent transsphenoidal surgery for RCC. Six patients were identified who presented with symptoms and MR imaging characteristics consistent with pituitary apoplexy but were found intraoperatively to have an RCC. All 6 patients presented with a sudden headache, 2 with visual loss, and 1 with diplopia. Review of the preoperative MR images demonstrated mixed signal intensities in the sellar masses suggestive of a hemorrhagic pituitary tumor. In all patients there was a presumed clinical diagnosis of pituitary tumor apoplexy and an imaging-documented diagnosis of hemorrhagic pituitary tumor. Results. All 6 patients underwent transsphenoidal resection to treat the suspected pituitary apoplexy. Intraoperative and histopathological findings were consistent with the diagnosis of an RCC in all cases. Only 2 cases showed evidence of hemorrhage intraoperatively. In all cases, an intracystic nodule was found within the RCC at surgery, and this intracystic nodule was present on the initial MR imaging when retrospectively reviewed. The imaging characteristics of the intracystic nodules were similar to those of acute hemorrhage seen in cases of pituitary apoplexy. Conclusions. The clinical and imaging features of RCCs appear similar to those of hemorrhagic pituitary tumors, making them often indistinguishable from pituitary apoplexy

Rathke cleft cyst intracystic nodule: a characteristic magnetic resonance imaging finding

Journal ArticleObject. The fluid content of Rathke cleft cysts (RCCs) displays variable appearances on magnetic resonance (MR) images and can appear indistinguishable from other intrasellar or suprasellar cystic lesions. Intracystic nodules associated with individual RCCs have been noted, but to date their significance has not been fully explored. Methods. The authors retrospectively reviewed MR imaging studies obtained in patients harboring intrasellar or suprasellar lesions that were consistent with RCCs to identify the presence and imaging characteristics of intracystic nodules. An intracystic nodule was present in nine (45%) of 20 patients with an RCC. All intracystic nodules were clearly visible and displayed a characteristic low signal intensity on T2-weighted MR images. The nodule was only visualized on T1-weighted images in four cases, in which it exhibited a consistent high signal intensity similar to that of the cyst fluid. The nodules did not enhance following the intravenous administration of a contrast agent. Conclusions. Although it is difficult to differentiate RCCs from other sellar cystic lesions because of the variable signal intensities displayed on MR images, the intensity of the intracystic nodule seems consistent on T1- and T2- weighted images, and the nodule is always clearly visible on T2-weighted images. With a nonenhancing cystic lesion that does not cause significant symptoms in the patient, the identification of an intracystic nodule with a characteristic signal intensity will aid in the diagnosis of RCC and the selection of conservative management

Mental health and neurodevelopment in children and adolescents with Turner syndrome

OBJECTIVES: Turner syndrome (TS) is a rare sex chromosome aneuploidy, with an incidence of four in 10,000 new-born girls. TS is often associated with impaired social communication skills, but the extent to which these are attributable to Autism Spectrum Disorders (ASD) is uncertain. We made standardized assessments of the mental health and associated neurodevelopmental disorders in children and adolescents with TS and report on the prevalence of concurrent conditions. METHODS: Our sample comprised 127 girls with TS, 5-19 years of age. We obtained reports of their mental health from a combination of diagnostic interview (the Development and Wellbeing Assessment (DAWBA)), from the Strengths and Difficulties Questionnaire (SDQ) and from the Social Responsiveness Scale (SRS-2). Sources of information included parents, teachers and self-reports. The prevalence of mental health disorders in this sample was compared with age/sex matched national English data from typical controls. RESULTS: Most individuals with TS (83%) had experienced significant social communication difficulties and nearly one in four (23%) met diagnostic criteria for ASD on the DAWBA. One-third (34%) had at least one mental health or neurodevelopmental condition, and those girls with an ASD were at a greater risk of a co-occurring emotional disorder and/or attention deficit hyperactivity disorder (ADHD). CONCLUSION: Children and adolescents with TS are substantially more likely to meet criteria for ASD than their typically developing peers. Our finding has clinical implications for appropriate behavioural management from preschool through to adolescence

A comparison of methods for measuring camouflaging in autism

Interest in social camouflaging has led to a multiplicity of measurement methods of uncertain validity. This two-part investigation first used a systematic review ("Study 1") to identify and appraise methods used to quantify camouflaging of autistic traits, using the Consensus-based Standards for the Selection of Health Status Measurement Instruments checklist. A total of 16 distinct measurement tools were identified; all are in the preliminary phases of psychometric evaluation. The systematic review highlighted: (1) the need for parent-report tools which specifically measure camouflaging; and (2) a lack of studies looking at associations between different methods of camouflaging, which limits understanding of their validity. "Study 2" aimed to begin to address these gaps in knowledge. We created a parent-report version of the Camouflaging Autistic Traits Questionnaire (CAT-Q) and evaluated its concurrent validity in autistic young people by examining associations with the self-report CAT-Q and a discrepancy measure. Discriminant validity was investigated by comparing all three methods of measuring camouflaging to a measure of social skills, to test whether they assess a construct distinct from social ability. The self- and parent-report CAT-Q were significantly related (r = 0.47, 95% CI = 0.24-0.65), and were related weakly (r = 0.20, 95% CI = -0.06 to 0.43) and strongly (r = 0.46, 95% CI = 0.23-0.64), respectively, to the discrepancy approach. No measure was associated with social skills. Improving the psychometric properties of these methods, and introducing a novel parent-report measure, may help selection of appropriate methods in future research and integration into clinical practice

Phenomenology of gender dysphoria in autism: a multiperspective qualitative analysis

BACKGROUND: Autistic people are overrepresented in gender clinic settings, but limited evidence is available to guide clinical decision making for this patient group. We aimed to generate a comprehensive understanding of the phenomenology of gender dysphoria in autistic people. METHODS: We conducted a multi-perspectival interpretative phenomenological analysis (IPA), from five different perspectives; autistic young people and adults with experience of gender dysphoria, parents of young people, and clinicians working with autistic people with gender dysphoria in both adult and young person settings (n = 68). RESULTS: IPA analysis resulted in two themes, 'discovering gender identity' and 'the complexities of moving towards gender comfort'. Participants agreed that there was often an interaction between gender dysphoria and features of autism such as sensory sensitivities. There was relative consensus across groups about the need for autism adaptations to be made in gender clinics. Autistic adults were more likely to see autism as an important identity than young people, but both groups were clear that autism did not impair their understanding of gender. In contrast, some parents and clinicians working with young people expressed concern that autism did impact self-understanding. DISCUSSION: While the groups tended to agree on the ways in which particular features of autism can compound gender dysphoria, there were a range of perspectives on the ways in which autism impacted on self-knowledge. CONCLUSION: Recommendations for adaptations when working with autistic people with gender dysphoria are presented

A comparison of self-report and discrepancy measures of camouflaging: Exploring sex differences in diagnosed autistic versus high autistic trait young adults

Camouflaging describes masking or compensating for autistic traits and/or related difficulties. Some evidence suggests autistic females camouflage more than autistic males, potentially contributing to delayed or missed diagnosis. Studies predominantly adopt self-report measures of camouflaging, potentially reflecting a person's intent to camouflage without accurately measuring effectiveness (i.e., success in fulfilling the intended effect of minimizing the appearance of autistic traits) of camouflaging. Discrepancy scores between underlying cognitive difficulties (e.g., theory of mind) and observed autistic traits (henceforth camoToM ), or between self-reported autistic traits and observed autistic traits (henceforth camoSRS ), may provide a more accurate measure of camouflaging effectiveness. Three measures of camouflaging administered to autistic males (n = 46) and females (n = 40), and adults with equally high levels of autistic traits but no diagnosis (n = 45 males, n = 43 females) recruited from a large population-based sample were compared. Self-report measures of camouflaging were significantly correlated with camoSRS scores only. Both discrepancy scores were correlated with each other. Adults with high autistic traits, but no diagnosis, had higher discrepancy camouflaging scores than diagnosed adults, but self-reported scores were similar. Diagnosed females scored higher than diagnosed males across all camouflaging measures, but no sex difference occurred in the high trait group. This might indicate that autistic females have higher intentions and greater effectiveness when camouflaging, compared with autistic males. For camoSRS only, high trait males scored significantly higher than diagnosed males; no group difference occurred for females. These results suggest that, despite all participants intending to camouflage to some extent, effective camouflaging as measured by discrepancy scores is higher in undiagnosed high autistic trait individuals. One interpretation is that effective camouflaging reduces the likelihood of autism diagnosis in males and females with high autistic traits

The lived experience of gender dysphoria in autistic adults: An interpretative phenomenological analysis

Autistic people are more likely to be transgender, which means having a gender identity different to one’s sex assigned at birth. Some transgender people experience distress about this incongruence or gender dysphoria. Few studies have aimed to understand the inner experiences of this group. In this study, we used Interpretive Phenomenological Analysis to understand the lived experience of gender dysphoria. Twenty-one autistic adults were interviewed about their experience of incongruence between their gender identity and sex assigned at birth, and any associated distress. The interviews were transcribed and analysed using Interpretive Phenomenological Analysis. Participants described significant distress because their bodies did not match their gender identities, their need to understand their identities more broadly and to manage complex intersecting needs. Participants experienced distress due to living in a world which is not always accepting of gender- and neuro-diversity. Participants described barriers in accessing healthcare for their gender needs. Some participants felt being autistic had facilitated their understanding of their gender identity. Other participants described challenges such as a tension between their need to undergo a physical gender transition versus a need for sameness and routine. In conclusion, there can be both positive experiences and additional challenges for autistic transgender people