Adequacy of existing residential care arrangements available for young people with severe physical, mental or intellectual disabilities in Australia

Acknowledging that the NDIS alone will not be able to solve the issues faced by young people in nursing homes, this review makes 12 recommendations including establishing a joint taskforce to ensure the recommendations are put in place. LIST OF RECOMMENDATIONS Recommendations to the Australian Government Recommendation 1 6.7 The committee recommends that the Australian Government compile a database of all young people under the age of 65 years living in residential aged care facilities using the data held by the Aged Care Assessment Team (ACAT) program. This list should be provided in a regularly updated form to the National Disability Insurance Agency (NDIA) and to state and territory governments. This data should include the following information: name; age and age of entry to aged care; diagnosis; length of time spent in the aged care system; and the factors that need to be addressed for the person to move out of the aged care facility. Recommendation 2 6.8 The committee recommends that the Australian Bureau of Statistics (ABS) conduct a Longitudinal Survey of Disability, Ageing and Carers in addition to its triennial survey of Disability, Ageing and Carers. Recommendation 3 6.10 The committee recommends that the Australian Government develop and implement a comprehensive assessment and placement tool or residential assessment instrument to assess the care and accommodation needs for all young people living in or at risk of entering residential care. Recommendation 4 6.12 The committee recommends that supplementary assessment guidelines and tools are developed for the ACAT program to ensure that all young people being considered for an aged care placement are properly assessed. As part of this process, the committee recommends that: all young people placed in aged care are intensively case managed; and all ACAT placements for those aged under 65 are reviewed on an annual basis. Recommendation 5 6.13 The committee recommends that the accreditation standards for residential aged care are amended to include standards relating to the clinical outcomes and lifestyle needs of young people. In order to assist with meeting these new accreditation standards, the committee recommends that the Australian Government: • provide a supplementary payment to residential aged care facilities to ensure that these accreditation standards can be met; and • invest in disability specific training for all staff involved in the care of young people living in aged care. This training should focus on building improved awareness of the needs of young people and those living with disability in order to provide better support. It should also lead to improved connectivity between the aged care sector and other service sectors including allied health and disability services. Recommendation 6 6.17 The committee recommends that the Department of Social Services\u27 current discussion paper on disability housing consider capital funding options for construction of specialised disability accommodation. 6.18 The committee recommends that the discussion paper is released as a matter of urgency. 6.19 The committee recommends that the Australian Government establish a supported disability accommodation fund similar to the Supported Accommodation Innovation Fund. Recommendations to the Joint Standing Committee on the National Disability Insurance Scheme Recommendation 7 6.21 The committee recommends that the Joint Standing Committee on the National Disability Insurance Scheme (NDIS) conduct an inquiry into the issue of disability housing after the release of the discussion paper on disability housing. Recommendations to the Council of Australian Governments (COAG) Recommendation 8 6.23 The committee recommends that the COAG develop and implement a national rehabilitation strategy including a framework for the delivery of slow stream rehabilitation in all jurisdictions. Recommendation 9 6.28 The committee recommends that the NDIS, in all NDIS trial sites, and the relevant state or territory government in all other areas: • assign an advocate to all young people living in residential care to provide information to a young person and their families about their options. If appropriate, the advocate can act on behalf of the young person; • assign an advocate to all young people at risk of entering residential care to provide information to a young person and their families about their options. If appropriate, the advocate can act on behalf of the young person. The advocate should be made available as early as possible after diagnosis of an illness or disability and be assigned before any placement commences; • extend the National Younger Onset Dementia Key Worker Program (YODKWP) to all young people identified as being at risk of placement in residential care to provide collaborative case management. The key worker should be assigned before any placement commences; and • these programs should be proactively extended to young people living in residential care facilities under the age of 65 years by June 2017. Consideration of the mental health status of young people should be prioritised with appropriate support provided where necessary. Recommendation 10 6.30 The committee recommends that the NDIS, in all NDIS trial sites, should consider how it supports those with Foetal Alcohol Spectrum Disorder (FASD). 6.31 The committee also recommends that the NDIS, in all NDIS trial sites, and the relevant state or territory government in all other areas work closely with community health services to provide the following for those with FASD agreement on a standardised diagnostic tool; and provision of early intervention services and other health services such as speech pathology, physiotherapy and occupational therapy. Recommendation 11 6.32 The committee recommends that the COAG establish a joint taskforce for young people living in residential care. This taskforce will: • facilitate the development and implementation of integrated service pathways involving a range of portfolios at a state and federal level including housing, health, aged care, disability, and transport; and • facilitate the collation and development of information packs outlining support, transition and placement options for young people. These packs should be made available to young people, their families, health practitioners and other relevant professionals in hospitals and aged care facilities. This process should collate all information and tools developed by the states during the Younger People with Disability in Residential Aged Care (YPIRAC) program and lead to the development of a standardised national information pack and make available to all state and territory governments for deployment. 6.33 The joint taskforce will also be responsible for oversight of the following for young people living in a Residential Aged Care Facility (RACF):  access to appropriate prescribed specialist services including speech pathology, physiotherapy, occupational therapy and other allied health services; the national rehabilitation strategy; the provision of advocates; the expanded key worker program; access to fully funded equipment as part of all state and territory Aids and Equipment schemes; • a cross sector approach is adopted to explore options for the provision of short term respite services; and • that all young people who indicate that they do not wish to live in residential care are transitioned into appropriate alternate accommodation by June 2018. Recommendation 12 6.34 The committee recommends that the joint taskforce issues a half yearly report on the progress of Recommendation 11 to the COAG

Interpretation of ambiguous situations: evidence for a dissociation between social and physical threat in Williams syndrome

There is increasing evidence that Williams syndrome (WS) is associated with elevated anxiety that is non-social in nature, including generalised anxiety and fears. To date very little research has examined the cognitive processes associated with this anxiety. In the present research, attentional bias for non-social threatening images in WS was examined using a dot-probe paradigm. Participants were 16 individuals with WS aged between 13 and 34 years and two groups of typically developing controls matched to the WS group on chronological age and attentional control ability respectively. The WS group exhibited a significant attention bias towards threatening images. In contrast, no bias was found for group matched on attentional control and a slight bias away from threat was found in the chronological age matched group. The results are contrasted with recent findings suggesting that individuals with WS do not show an attention bias for threatening faces and discussed in relation to neuroimaging research showing elevated amygdala activation in response to threatening non-social scenes in WS

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

International audienceBackground: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. Methodology: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. Findings: FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. Conclusions: The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism

Deregulation of MUC4 in gastric adenocarcinoma: potential pathobiological implication in poorly differentiated non-signet ring cell type gastric cancer

MUC4 is a large, heavily glycosylated transmembrane mucin, that is implicated in the pathogenesis of various types of cancers. To date, no extensive study has been done to check the expression and functional significance of MUC4 in different types of gastric adenocarcinomas. Here, we report the expression profile of MUC4 in gastric adenocarcinomas and its function in poorly differentiated gastric non-signet ring cell carcinoma (non-SRCC) type cells. Immunohistochemical analysis using tissue microarray (TMA) showed a significant difference in MUC4 expression between normal adjacent (n=45) and gastric adenocarcinoma (n=83; P<0.001). MUC4 expression was not associated with tumour type, stage or with the degree of differentiation. To gain further insight into the significance of MUC4 expression in gastric non-SRCC cells, MUC4 was ectopically expressed in AGS, a poorly differentiated gastric non-signet ring cell line. The MUC4 overexpressing cells (AGS-MUC4) showed a significant increase (P<0.005) in cell motility and a decrease in cellular aggregation as compared with the vector-transfected cells. Furthermore, in vivo tumorigenicity analysis revealed that animals transplanted with the MUC4 overexpressing cells (AGS-MUC4) had a greater incidence of tumours (83%) in comparison to empty vector control (17%). In addition, the expression of MUC4 resulted in enhanced expression of total cellular ErbB2 and phosphorylated ErbB2. In conclusion, our results showed that MUC4 is overexpressed in gastric adenocarcinoma tissues, and that it has a role in promoting aggressive properties in poorly differentiated gastric non-SRCC cells through the activation of the ErbB2 oncoprotein

A multimeasure approach to investigating affective appraisal of social information in Williams syndrome

People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to moderate intellectual or learning disability. To explore the mechanisms underlying this unusual social–behavioral phenotype, we investigated whether individuals with WS show an atypical appraisal style and autonomic responsiveness to emotionally laden images with social or nonsocial content. Adolescents and adults with WS were compared to chronological age-matched and nonverbal mental age-matched groups in their responses to positive and negative images with or without social content, using measures of self-selected viewing time (SSVT), autonomic arousal reflected in pupil dilation measures, and likeability ratings. The participants with WS looked significantly longer at the social images compared to images without social content and had reduced arousal to the negative social images compared to the control groups. In contrast to the comparison groups, the explicit ratings of likeability in the WS group did not correlate with their SSVT; instead, they reflected an appraisal style of more extreme ratings. This distinctive pattern of viewing interest, likeability ratings, and autonomic arousal to images with social content in the WS group suggests that their heightened social drive may be related to atypical functioning of reward-related brain systems reflected in SSVT and autonomic reactivity measures, but not in explicit ratings

Ecological impacts of non-native Pacific oysters (Crassostrea gigas) and management measures for protected areas in Europe

Pacific oysters are now one of the most ‘globalised’ marine invertebrates. They dominate bivalve aquaculture production in many regions and wild populations are increasingly becoming established, with potential to displace native species and modify habitats and ecosystems. While some fishing communities may benefit from wild populations, there is now a tension between the continued production of Pacific oysters and risk to biodiversity, which is of particular concern within protected sites. The issue of the Pacific oyster therefore locates at the intersection between two policy areas: one concerning the conservation of protected habitats, the other relating to livelihoods and the socio-economics of coastal aquaculture and fishing communities. To help provide an informed basis for management decisions, we first summarise evidence for ecological impacts of wild Pacific oysters in representative coastal habitats. At local scales, it is clear that establishment of Pacific oysters can significantly alter diversity, community structure and ecosystem processes, with effects varying among habitats and locations and with the density of oysters. Less evidence is available to evaluate regional-scale impacts. A range of management measures have been applied to mitigate negative impacts of wild Pacific oysters and we develop recommendations which are consistent with the scientific evidence and believe compatible with multiple interests. We conclude that all stakeholders must engage in regional decision making to help minimise negative environmental impacts, and promote sustainable industry development

Deep sequencing analysis of the developing mouse brain reveals a novel microRNA

Extent: 15p.Background: MicroRNAs (miRNAs) are small non-coding RNAs that can exert multilevel inhibition/repression at a post-transcriptional or protein synthesis level during disease or development. Characterisation of miRNAs in adult mammalian brains by deep sequencing has been reported previously. However, to date, no small RNA profiling of the developing brain has been undertaken using this method. We have performed deep sequencing and small RNA analysis of a developing (E15.5) mouse brain. Results: We identified the expression of 294 known miRNAs in the E15.5 developing mouse brain, which were mostly represented by let-7 family and other brain-specific miRNAs such as miR-9 and miR-124. We also discovered 4 putative 22-23 nt miRNAs: mm_br_e15_1181, mm_br_e15_279920, mm_br_e15_96719 and mm_br_e15_294354 each with a 70-76 nt predicted pre-miRNA. We validated the 4 putative miRNAs and further characterised one of them, mm_br_e15_1181, throughout embryogenesis. Mm_br_e15_1181 biogenesis was Dicer1-dependent and was expressed in E3.5 blastocysts and E7 whole embryos. Embryo-wide expression patterns were observed at E9.5 and E11.5 followed by a near complete loss of expression by E13.5, with expression restricted to a specialised layer of cells within the developing and early postnatal brain. Mm_br_e15_1181 was upregulated during neurodifferentiation of P19 teratocarcinoma cells. This novel miRNA has been identified as miR-3099. Conclusions: We have generated and analysed the first deep sequencing dataset of small RNA sequences of the developing mouse brain. The analysis revealed a novel miRNA, miR-3099, with potential regulatory effects on early embryogenesis, and involvement in neuronal cell differentiation/function in the brain during late embryonic and early neonatal development.King-Hwa Ling, Peter J Brautigan, Christopher N Hahn, Tasman Daish, John R Rayner, Pike-See Cheah, Joy M Raison, Sandra Piltz Jeffrey R Mann, Deidre M Mattiske, Paul Q Thomas, David L Adelson and Hamish S Scot

Neurobiology of social behavior abnormalities in autism and Williams syndrome

Social behavior is a basic behavior mediated by multiple brain regions and neural circuits, and is crucial for the survival and development of animals and humans. Two neuropsychiatric disorders that have prominent social behavior abnormalities are autism spectrum disorders (ASD), which is characterized mainly by hyposociability, and Williams syndrome (WS), whose subjects exhibit hypersociability. Here we review the unique properties of social behavior in ASD and WS, and discuss the major theories in social behavior in the context of these disorders. We conclude with a discussion of the research questions needing further exploration to enhance our understanding of social behavior abnormalities

Comprehensive molecular characterization of gastric adenocarcinoma

Gastric cancer is a leading cause of cancer deaths, but analysis of its molecular and clinical characteristics has been complicated by histological and aetiological heterogeneity. Here we describe a comprehensive molecular evaluation of 295 primary gastric adenocarcinomas as part of The Cancer Genome Atlas (TCGA) project. We propose a molecular classification dividing gastric cancer into four subtypes: tumours positive for Epstein–Barr virus, which display recurrent PIK3CA mutations, extreme DNA hypermethylation, and amplification of JAK2, CD274 (also known as PD-L1) and PDCD1LG2 (also knownasPD-L2); microsatellite unstable tumours, which show elevated mutation rates, including mutations of genes encoding targetable oncogenic signalling proteins; genomically stable tumours, which are enriched for the diffuse histological variant and mutations of RHOA or fusions involving RHO-family GTPase-activating proteins; and tumours with chromosomal instability, which show marked aneuploidy and focal amplification of receptor tyrosine kinases. Identification of these subtypes provides a roadmap for patient stratification and trials of targeted therapies