Prevalence of mental health conditions and relationship with general health in a whole-country population of people with intellectual disabilities compared with the general population

Background: There are no previous whole-country studies on mental health and relationships with general health in intellectual disability populations; study results vary. Aims: To determine the prevalence of mental health conditions and relationships with general health in a total population with and without intellectual disabilities. Method: Ninety-four per cent completed Scotland’s Census 2011. Data on intellectual disabilities, mental health and general health were extracted, and the association between them was investigated. Results: A total of 26 349/5 295 403 (0.5%) had intellectual disabilities. In total, 12.8% children, 23.4% adults and 27.2% older adults had mental health conditions compared with 0.3, 5.3 and 4.5% of the general population. Intellectual disabilities predicted mental health conditions; odds ratio (OR)=7.1 (95% CI 6.8–7.3). General health was substantially poorer and associated with mental health conditions; fair health OR=1.8 (95% CI 1.7–1.9), bad/very bad health OR=4.2 (95% CI 3.9–4.6). Conclusions: These large-scale, whole-country study findings are important, given the previously stated lack of confidence in comparative prevalence results, and the need to plan services accordingly

Framing Representation: An Ethnographic Exploration of Visual Sovereignty and Contemporary Native American Art

The nature of this research is to explore the idea of visual sovereignty within contemporary Native American art, and how this concept engages with practices of decolonization. Through conducting semi-structured interviews with five artists who selfidentify as Native American, I explore how the artists engage with this concept, what visual narratives their artwork presents, and how their works function as acts of decolonization. I connect their narratives to a broader conversation of critical museology and museum anthropology within museum spaces including how to reconsider the art/artifact divide, how to frame Indigenous arts reception through Indigenous aesthetics, and how their narratives add multiplicity to the concept of sovereignty. This research utilizes critical ethnography and narrative methodology to present the data, which is interpreted through the frameworks of visual sovereignty, Tribal Critical Race Theory, and both relational and Indigenous aesthetics

From Citywide to Neighborhood-Based: Two Decades of Learning, Prioritization, and Strategic Action to Build the Skillman Foundation’s Youth-Development Systems

· This article explores the Skillman Foundation’s shift in its approach to fulfilling its mission to improve the lives of children and youth and to making grants – moving from a traditional grantmaker to a place-based investor and change-maker. · Three aspects of Skillman’s approach have directly shaped the evolution of its youth-development investments: recognizing Detroit’s economic, social, political, and environmental challenges; articulating overarching goals to provide direction and setting priorities for the scope and focus of its programmatic work; and using rapid learning to inform strategic decisions and social-innovation practices designed to tackle deeply entrenched problems. · This article reflects on the foundation’s evolution over two decades of learning, prioritization, and strategic action in its efforts to build and sustain outcome-focused youth-development systems

Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues

Skeletal muscle comprises a family of diverse tissues with highly specialized functions. Many acquired diseases, including HIV and COPD, affect specific muscles while sparing others. Even monogenic muscular dystrophies selectively affect certain muscle groups. These observations suggest that factors intrinsic to muscle tissues influence their resistance to disease. Nevertheless, most studies have not addressed transcriptional diversity among skeletal muscles. Here we use RNAseq to profile mRNA expression in skeletal, smooth, and cardiac muscle tissues from mice and rats. Our data set, MuscleDB, reveals extensive transcriptional diversity, with greater than 50% of transcripts differentially expressed among skeletal muscle tissues. We detect mRNA expression of hundreds of putative myokines that may underlie the endocrine functions of skeletal muscle. We identify candidate genes that may drive tissue specialization, including Smarca4, Vegfa, and Myostatin. By demonstrating the intrinsic diversity of skeletal muscles, these data provide a resource for studying the mechanisms of tissue specialization

Perseveration and choice in Parkinson's disease: the impact of progressive frontostriatal dysfunction on action decisions.

We have previously shown that patients with Parkinson's disease (PD) perseverate in their choice of action relative to healthy controls, and that this is affected by dopaminergic medication (Hughes LE, Barker RA, Owen AM, Rowe JB. 2010. Parkinson's disease and healthy aging: Independent and interacting effects on action selection. Hum Brain Mapp. 31:1886-1899). To understand further the neural basis of these phenomena, we used a new task that manipulated the options to repeat responses. Seventeen patients with idiopathic PD were studied both "on" and "off" dopaminergic medication and 18 healthy adults were scanned twice as controls. All subjects performed a right-handed 3-choice button press task, which controlled the availability of repeatable responses. The frequency of choosing to repeat a response (a form of perseveration) in patients was related to dopamine therapy and disease severity as a "U-shaped" function. For repetitive trials, this "U-shaped" relationship was also reflected in the BOLD response in the caudate nuclei and ventrolateral prefrontal cortex. Our results support a U-shaped model of optimized cortico-striatal circuit function and clearly demonstrate that flexibility in response choice is modulated by an interaction of dopamine and disease severity

Hierarchical Organization of Frontotemporal Networks for the Prediction of Stimuli across Multiple Dimensions.

Brain function can be conceived as a hierarchy of generative models that optimizes predictions of sensory inputs and minimizes "surprise." Each level of the hierarchy makes predictions of neural events at a lower level in the hierarchy, which returns a prediction error when these expectations are violated. We tested the generalization of this hypothesis to multiple sequential deviations, and we identified the most likely organization of the network that accommodates deviations in temporal structure of stimuli. Magnetoencephalography of healthy human participants during an auditory paradigm identified prediction error responses in bilateral primary auditory cortex, superior temporal gyrus, and lateral prefrontal cortex for deviation by frequency, intensity, location, duration, and silent gap. We examined the connectivity between cortical sources using a set of 21 generative models that embedded alternate hypotheses of frontotemporal network dynamics. Bayesian model selection provided evidence for two new features of functional network organization. First, an expectancy signal provided input to the prefrontal cortex bilaterally, related to the temporal structure of stimuli. Second, there are functionally significant lateral connections between superior temporal and/or prefrontal cortex. The results support a predictive coding hypothesis but go beyond previous work in demonstrating the generalization to multiple concurrent stimulus dimensions and the evidence for a temporal expectancy input at the higher level of the frontotemporal hierarchy. We propose that this framework for studying the brain's response to unexpected events is not limited to simple sensory tasks but may also apply to the neurocognitive mechanisms of higher cognitive functions and their disorders.This work was supported by the Medical Research Council (Grant MC-A060-5PQ30 and a doctoral training award to H.N.P.), the Wellcome Trust (Grants 088324 and 103838 to J.B.R. and L.E.H., Biomedical Research Fellowship WT093811MA to T.A.B.), and the James F. McDonnell Foundation 21st Century Science Initiative: Understanding Human Cognition.This is the final version of the article. It first appeared from Society for Neuroscience via http://dx.doi.org/10.1523/JNEUROSCI.5095-14.201

A method for accurate detection of genomic microdeletions using real-time quantitative PCR

BACKGROUND: Quantitative Polymerase Chain Reaction (qPCR) is a well-established method for quantifying levels of gene expression, but has not been routinely applied to the detection of constitutional copy number alterations of human genomic DNA. Microdeletions or microduplications of the human genome are associated with a variety of genetic disorders. Although, clinical laboratories routinely use fluorescence in situ hybridization (FISH) to identify such cryptic genomic alterations, there remains a significant number of individuals in which constitutional genomic imbalance is suspected, based on clinical parameters, but cannot be readily detected using current cytogenetic techniques. RESULTS: In this study, a novel application for real-time qPCR is presented that can be used to reproducibly detect chromosomal microdeletions and microduplications. This approach was applied to DNA from a series of patient samples and controls to validate genomic copy number alteration at cytoband 22q11. The study group comprised 12 patients with clinical symptoms of chromosome 22q11 deletion syndrome (22q11DS), 1 patient trisomic for 22q11 and 4 normal controls. 6 of the patients (group 1) had known hemizygous deletions, as detected by standard diagnostic FISH, whilst the remaining 6 patients (group 2) were classified as 22q11DS negative using the clinical FISH assay. Screening of the patients and controls with a set of 10 real time qPCR primers, spanning the 22q11.2-deleted region and flanking sequence, confirmed the FISH assay results for all patients with 100% concordance. Moreover, this qPCR enabled a refinement of the region of deletion at 22q11. Analysis of DNA from chromosome 22 trisomic sample demonstrated genomic duplication within 22q11. CONCLUSION: In this paper we present a qPCR approach for the detection of chromosomal microdeletions and microduplications. The strategic use of in silico modelling for qPCR primer design to avoid regions of repetitive DNA, whilst providing a level of genomic resolution greater than standard cytogenetic assays. The implementation of qPCR detection in clinical laboratories will address the need to replace complex, expensive and time consuming FISH screening to detect genomic microdeletions or duplications of clinical importance

Prevalence of long-term health conditions in adults with autism: observational study of a whole country population

Objectives: To investigate the prevalence of comorbid mental health conditions and physical disabilities in a whole country population of adults aged 25+ with and without reported autism. Design: Secondary analysis of Scotland’s Census, 2011 data. Cross-sectional study. Setting: General population. Participants: 94% of Scotland’s population, including 6649/3 746 584 adults aged 25+ reported to have autism. Main outcome measures: Prevalence of six comorbidities: deafness or partial hearing loss, blindness or partial sight loss, intellectual disabilities, mental health conditions, physical disability and other condition; ORs (95% CI) of autism predicting these comorbidities, adjusted for age and gender; and OR for age and gender in predicting comorbidities within the population with reported autism. Results: Comorbidities were common: deafness/hearing loss—17.5%; blindness/sight loss—12.1%; intellectual disabilities—29.4%; mental health conditions—33.0%; physical disability—30.7%; other condition—34.1%. Autism statistically predicted all of the conditions: OR 3.3 (95% CI 3.1 to 3.6) for deafness or partial hearing loss, OR 8.5 (95% CI 7.9 to 9.2) for blindness or partial sight loss, OR 94.6 (95% CI 89.4 to 100.0) for intellectual disabilities, OR 8.6 (95% CI 8.2 to 9.0) for mental health conditions, OR 6.2 (95% CI 5.8 to 6.6) for physical disability and OR 2.6 (95% CI 2.5 to 2.8) for other condition. Contrary to findings within the general population, female gender predicted all conditions within the population with reported autism, including intellectual disabilities (OR=1.4). Conclusions: Clinicians need heightened awareness of comorbidities in adults with autism to improve detection and suitable care, especially given the added complexity of assessment in this population and the fact that hearing and visual impairments may cause additional difficulties with reciprocal communication which are also a feature of autism; hence posing further challenges in assessment