617 research outputs found
Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a behavioural phenotype encompassing hyperphagia, intellectual disability, social and behavioural difficulties, and propensity to psychiatric illness. Research has tended to focus on the cognitive and behavioural investigation of these features, and, with the exception of eating behaviour, the neural physiology is currently less well understood. A systematic review was undertaken to explore findings relating to neural structure and function in PWS, using search terms designed to encompass all published articles concerning both in vivo and post-mortem studies of neural structure and function in PWS. This supported the general paucity of research in this area, with many articles reporting case studies and qualitative descriptions or focusing solely on the overeating behaviour, although a number of systematic investigations were also identified. Research to date implicates a combination of subcortical and higher order structures in PWS, including those involved in processing reward, motivation, affect and higher order cognitive functions, with both anatomical and functional investigations indicating abnormalities. It appears likely that PWS involves aberrant activity across distributed neural networks. The characterisation of neural structure and function warrants both replication and further systematic study
Hex Player—a virtual musical controller
In this paper, we describe a playable musical interface for tablets and multi-touch tables. The interface is a generalized keyboard, inspired by the Thummer, and consists of an array of virtual buttons. On a generalized keyboard, any given interval always has the same shape (and therefore fingering); furthermore, the fingering is consistent over a broad range of tunings. Compared to a physical generalized keyboard, a virtual version has some advantages—notably, that the spatial location of the buttons can be transformed by shears and rotations, and their colouring can be changed to reflect their musical function in different scales.
We exploit these flexibilities to facilitate the playing not just of conventional Western scales but also a wide variety of microtonal generalized diatonic scales known as moment of symmetry, or well-formed, scales. A user can choose such a scale, and the buttons are automatically arranged so their spatial height corresponds to their pitch, and buttons an octave apart are always vertically above each other. Furthermore, the most numerous scale steps run along rows, while buttons within the scale are light-coloured, and those outside are dark or removed.
These features can aid beginners; for example, the chosen scale might be the diatonic, in which case the piano’s familiar white and black colouring of the seven diatonic and five chromatic notes is used, but only one scale fingering need ever be learned (unlike a piano where every key needs a different fingering). Alternatively, it can assist advanced composers and musicians seeking to explore the universe of unfamiliar microtonal scales
Understanding the interface between the Mental Capacity Act’s Deprivation of Liberty Safeguards (MCA-DoLS) and the Mental Health Act (MHA)
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Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome.
Genetically determined neurodevelopmental syndromes are frequently associated with a particular developmental trajectory, and with a cognitive profile and increased propensity to specific mental and behavioural disorders that are particular to, but not necessarily unique to the syndrome. How should these mental and behavioural disorders best be conceptualised given that similar symptoms are included in the definition of different mental disorders as listed in DSM-5 and ICD-10? In addition, a different conceptual framework, that of applied behavioural analysis, has been used to inform interventions for what are termed 'challenging behaviours' in contrast to types of interventions for those conditions meeting diagnostic criteria for a 'mental disorder'. These syndrome-specific developmental profiles and associated co-morbidities must be a direct or indirect consequence of the genetic abnormality associated with that syndrome, but the genetic loci associated with the syndrome may not be involved in the aetiology of similar symptoms in the general population. This being so, should we expect underlying brain mechanisms and treatments for specific psychopathology in one group to be effective in the other? Using Prader-Willi syndrome as an example, we propose that the conceptual thinking that informed the development of the Research Domain Criteria provides a model for taxonomy of psychiatric and behavioural disorders in genetically determined neurodevelopmental syndromes. This model brings together diagnostic, psychological and developmental approaches with the aim of matching specific behaviours to identifiable neural mechanisms
Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported. This study aimed to investigate, in detail, the structure of grey matter and cortex in the brain in a sample of young adults with PWS in a well-matched case-controlled analysis. 20 young adults with PWS, aged 19-27Â years, underwent multiparameter mapping magnetic resonance imaging sequences, from which measures of grey matter volume, cortical thickness and magnetisation transfer saturation, as a proxy measure of myelination, were examined. These variables were investigated in comparison to a control group of 40 typically developing young adults, matched for age and sex. A voxel-based morphometry analysis identified large and widespread bilateral clusters of both increased and decreased grey matter volume in the brain in PWS. In particular, widespread areas of increased volume encompassed parts of the prefrontal cortex, especially medially, the majority of the cingulate cortices, from anterior to posterior aspects, insula cortices, and areas of the parietal and temporal cortices. Increased volume was also reported in the caudate, putamen and thalamus. The most ventromedial prefrontal areas, in contrast, showed reduced volume, as did the parts of the medial temporal lobe, bilateral temporal poles, and a small cluster in the right lateral prefrontal cortex. Analysis of cortical structure revealed that areas of increased volume in the PWS group were largely driven by greater cortical thickness. Conversely, analysis of myelin content using magnetisation transfer saturation indicated that myelination of the cortex was broadly similar in the PWS and control groups, with the exception of highly localised areas, including the insula. The bilateral nature of these abnormalities suggests a systemic biological cause, with possible developmental and maturational mechanisms discussed, and may offer insight into the contribution of imprinted genes to neural development
Tensions between policy and practice: A qualitative analysis of decisions regarding compulsory admission to psychiatric hospital.
The use of detention for psychiatric treatment is widespread and sometimes necessary. International human rights law requires a legal framework to safeguard the rights to liberty and personal integrity by preventing arbitrary detention. However, research suggests that extra-legal factors may influence decisions to detain. This article presents observational and interview data to describe how decisions to detain are made in practice in one jurisdiction (England and Wales) where a tension between policy and practice has been described. The analysis shows that practitioners mould the law into 'practical criteria' that appear to form a set of operational criteria for identifying cases to which the principle of soft paternalism may be applied. Most practitioners also appear willing, albeit often reluctantly, to depart from their usual reliance on the principle of soft paternalism and authorise detention of people with the capacity to refuse treatment, in order to prevent serious harm. We propose a potential resolution for the tension between policy and practice: two separate legal frameworks to authorise detention, one with a suitable test of capacity, used to enact soft paternalism, and the other to provide legal justification for detention for psychiatric treatment of the small number of people who retain decision-making capacity but nonetheless choose to place others at risk by refusing treatment. This separation of detention powers into two systems, according to the principle that justifies the use of detention would be intellectually coherent, consistent with human rights instruments and, being consistent with the apparent moral sentiments of practitioners, less prone to idiosyncratic interpretations in practice.This study was conducted by EF as a PhD student in the Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, funded by a Wellcome Trust PhD Studentship in Biomedical Ethics. AJH and ICHC supervised the work, and MR contributed social science expertise to the working group. Cambridgeshire and Peterborough NHS Foundation Trust sponsored the project as a service evaluation study and we thank the participations for their co-operation. The findings, and suggestions for practice, have been fed back to the Trust through internal clinical governance processes. During the preparation of this paper, ICHC and AJH were supported by the NIHR's Collaboration for Leadership in Applied Health Research and Care (CLAHRC) East of England at Cambridgeshire and Peterborough NHS Foundation Trust. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.This is the author accepted manuscript. It is currently under an indefinite embargo pending publication by Elsevier
A comparison of sex offenders and other types of offenders referred to intellectual disability forensic services
This study compared 131 sex offenders with ID and 346 other types of offenders with ID using case file records. All the females in the study were non sexual offenders. Significantly more sexual offenders were referred from court and criminal justice services while significantly fewer were referred from secondary healthcare. A higher percentage of sex offenders had some form of legal status at time of referral. Greater proportions of non sexual offenders were referred for aggression, damage to property, substance abuse and fire setting while only the sex offenders had an index sex offence. For previous offending, the non sexual offenders had higher rates of aggression, cruelty and neglect of children, property damage and substance abuse while the sexual offenders had higher rates of previous sexual offending. For psychiatric disturbance and adversity in childhood, only ADHD showed a significant difference between groups with the non sexual offenders recording higher rates
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Increased choroidal thickness in adults with Down syndrome.
Introduction: People with Down syndrome (DS) are particularly susceptible to Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein (APP) gene. In this cross-sectional study, we hypothesized that choroidal thinning reported in sporadic AD (sAD) is mirrored in adults with DS. Methods: The posterior pole of the eye for 24 adults with DS and 16 age-matched controls (Ctrl) were imaged with optical coherence tomography. Choroidal thickness (ChT) was measured and analyzed in relation to cognitive status and cerebral amyloid beta (Aβ) load. Results: ChT was increased in people with DS (pwDS) compared to Ctrl. This increase was associated with gender differences and positively correlated with cerebral Aβ load in a small subset. There was no significant correlation detected between ChT and age or cognitive status. Discussion: In contrast to sAD this study found a significantly thicker choroid in pwDS. Whether these changes are related to Aβ pathology in DS needs further investigation
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Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome
Abstract: Prader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, distinct behavioural/psychiatric problems and abnormal body composition with increased body fat and a deficit of lean body mass. Growth hormone (GH) deficiency and other hormone deficiencies are common due to hypothalamic dysfunction. In children with PWS GH treatment has been widely demonstrated to improve body composition, normalise height and improve psychomotor development. In adults with PWS, GH’s main effects are to maintain normal body structure and metabolism. The positive effects of GH treatment on body composition, physical fitness and beneficial effects on cardiovascular risk markers, behaviour and quality of life in adults with PWS are also well established from several studies. GH treatment is approved for treatment of children with PWS in many countries, but until recently not as a treatment in young adults in the transition period or for adults in general. In this commentary we want to draw attention to the uneven global use of GH treatment, specifically in adults with PWS, and advocate for GH treatment to be approved internationally, not just for children, but also for adults with PWS and based only on the diagnosis of genetically confirmed PWS
A MIDI sequencer that widens access to the compositional possibilities of novel tunings
We present a new Dynamic Tonality MIDI sequencer, Hex, that aims to make sequencing music in and across a large variety of novel tunings as straightforward as sequencing in twelve-tone equal temperament. It replaces the piano roll used in conventional MIDI sequencers with a two-dimensional lattice roll in order to enable the intuitive visualization and dynamic manipulation of tuning.
In conventional piano roll sequencers, a piano keyboard is displayed on the left side of the window, and white and black note lanes extend horizontally to the right, into which a user can draw a sequence of notes. Similarly, in Hex, a button lattice is displayed in its own pane on the left side of the window, and horizontal lines are drawn from the center of each note to the right. These lines function as generalized note lanes, just like in piano roll sequencers, but with the added benefit that each note lane's height is always proportional to its pitch, even if the user changes the tuning. The presence of the button lattice on the left side of the window illustrates exactly which buttons a performer would play in order to replicate the sequence when playing a physical button lattice instrument
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