Temper outbursts in Prader-Willi syndrome: causes, behavioural and emotional sequence and responses by carers

Background: Temper outbursts are common in Prader-Willi syndrome but rarely described in detail. This study investigated the phenomenology of temper outbursts in terms of antecedents, sequence of behaviours and emotions and intervention strategies used.

Method: A semi-structured interview about temper outbursts was conducted with the main carers of seven children (9.5 to 16.7 years) and seven adults (24.7 to 47.10 years) with Prader-Willi syndrome (10 male, 4 female). Reliability and validity of the interview results was established.

Results: Various setting events increased and reduced the likelihood of temper outbursts. The most common antecedent was a change to routine or expectation. There were marked similarities in the sequence of behaviours and emotions during temper outbursts, with anger rising quickly followed by expressions of remorse and distress at the end of an outburst.

Discussion: The sequence of behaviours and emotions within outbursts was similar to that described in temper tantrums in typical development. Cognitive and emotional processes are likely to be important in the understanding of temper outbursts with implications for early intervention.

The Relationship between Components of the Behavioural Phenotype in Prader-Willi Syndrome

Background

Repetitive questions and temper outbursts form part of the behavioural phenotype of Prader-Willi syndrome (PWS). We investigated the phenomenology of temper outbursts in PWS and their relationship with other PWS behavioural characteristics.

Method

Four individuals with PWS were observed (5-10 h), during a number of experimental and natural environment challenges, some of which were expected to trigger temper outbursts. Individual behaviours including crying, ignoring, arguing, questioning, stereotypy, frowning and posture changes were recorded and subjected to lag sequential analysis.

Results

All participants were significantly more likely to show repetitive questioning before more challenging behaviours such as crying, arguing or ignoring requests. Precursor behaviours such as frowning and stereotypical behaviour were identified in three participants.

Conclusions

Temper outbursts in PWS may be associated with other PWS behavioural phenotypic characteristics such as repetitive questions and 'stubbornness'. A progression of behaviours may lead up to the most challenging temper outburst behaviours. This may have important implications for effective coping strategies.

A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms

Behavioural phenotypes associated with genetic syndromes have been extensively investigated in order to generate rich descriptions of phenomenology, determine the degree of specificity of behaviours for a particular syndrome, and examine potential interactions between genetic predispositions for behaviour and environmental influences. However, relationships between different aspects of behavioural phenotypes have been less frequently researched and although recent interest in potential cognitive phenotypes or endophenotypes has increased, these are frequently studied independently of the behavioural phenotypes.

Taking Prader-Willi syndrome (PWS) as an example, we discuss evidence suggesting specific relationships between apparently distinct aspects of the PWS behavioural phenotype and relate these to specific endophenotypic characteristics.

The framework we describe progresses through biological, cognitive, physiological and behavioural levels to develop a pathway from genetic characteristics to behaviour with scope for interaction with the environment at any stage.

We propose this multilevel approach as useful in setting out hypotheses in order to structure research that can more rapidly advance theory.

Assessing the Nonequilibrium Thermodynamics in a Quenched Quantum Many-Body System via Single Projective Measurements

We analyze the nature of the statistics of the work done on or by a quantum many-body system brought out of equilibrium. We show that, for the sudden quench and for an initial state that commutes with the initial Hamiltonian, it is possible to retrieve the whole nonequilibrium thermodynamics via single projective measurements of observables. We highlight, in a physically clear way, the qualitative implications for the statistics of work coming from considering processes described by operators that either commute or do not commute with the unperturbed Hamiltonian of a given system. We consider a quantum many-body system and derive an expression that allows us to give a physical interpretation, for a thermal initial state, to all of the cumulants of the work in the case of quenched operators commuting with the unperturbed Hamiltonian. In the commuting case, the observables that we need to measure have an intuitive physical meaning. Conversely, in the noncommuting case, we show that, although it is possible to operate fully within the single-measurement framework irrespectively of the size of the quench, some difficulties are faced in providing a clear-cut physical interpretation to the cumulants. This circumstance makes the study of the physics of the system nontrivial and highlights the nonintuitive phenomenology of the emergence of thermodynamics from the fully quantum microscopic description. We illustrate our ideas with the example of the Ising model in a transverse field showing the interesting behavior of the high-order statistical moments of the work distribution for a generic thermal state and linking them to the critical nature of the model itself.

Temperature dependence of the mid-infrared dielectric function of YBCO in the ab plane

We have excited mid-infrared surface plasmons in two YBCO thin films of contrasting properties using attenuated total reflection of light and found that the imaginary part of the dielectric function decreases linearly with reduction in temperature. This result is in contrast with the commonly reported conclusion of infrared normal reflectance studies. If sustained it may clarify the problem of understanding the normal state properties of YBCO and the other cuprates. The dielectric function of the films, epsilon = epsilon(1) + i epsilon(2), was determined between room temperature and 80K: epsilon(1) was found to be only slightly temperature dependent but somewhat sample dependent, probably as a result of surface and grain boundary contamination. The imaginary part, epsilon(2), (and the real part of the conductivity, sigma(1),) decreased linearly with reduction in temperature in both films. Results obtained were: for film 1: epsilon(1) = - 14.05 - 0.0024T and epsilon(2) - 4.11 + 0.086T and for film 2: epsilon(1) = - 24.09 + 0.0013T and epsilon(2) = 7.66 + 0.067T where T is the temperature in Kelvin. An understanding of the results is offered in terms of temperature-dependent intrinsic intragrain inelastic scattering and temperature-independent contributions: elastic and inelastic grain boundary scattering and optical interband (or localised charge) absorption. The relative contribution of each is estimated. A key conclusion is that the interband (or localised charge) absorption is only similar to 10%. Most importantly, the intrinsic scattering rate, 1/tau, decreases linearly with fall in temperature, T, in a regime where current theory predicts dependence on frequency, omega, to dominate. The coupling constant, lambda, between the charge carriers and the thermal excitations has a value of 1.7, some fivefold greater than the far infrared value. These results imply a need to restate the phenomenology of the normal state of high temperature superconductors and seek a corresponding theoretical understanding.

The impact of patient suicide on community mental health teams

Suicide in Scotland is considered an urgent public health issue affecting all aspects of society. The aim of this study was to explore how a patient suicide impacts on members of a community mental health team (CMHT). Six members of one CMHT were interviewed on two occasions, approximately nine months following a patient suicide. An interpretative descriptive model, drawing on elements of grounded theory, phenomenology end ethnography was chosen, using semistructured interviews for data collection. Three main themes of emotional response, communication and clinical implications were clearly described. Emotional response included feelings of shock and surprise, concern and personal impact. Communication included examples of personal, team and management communication in the days and weeks following the suicide. Clinical aspects discussed included the non-replacement of staff and training and experience as sub-themes. Findings in relation to the wider published literature are discussed

Characterisation of nonlinear distortion and intermodulation in passive devices and antennas

The paper presents a conceptual discussion of the characterisation and phenomenology of passive intermodulation (PIM) by the localised and distributed nonlinearities in passive devices and antennas. The PIM distinctive nature and its impact on signal distortions are examined in comparison with similar effects in power amplifiers. The main features of PIM generation are discussed and illustrated by the example of PIM due to electro-thermal nonlinearity. The issues of measurement, discrimination and modelling of PIM generated by nonlinearities in passive RF components and antennas are addressed.

Falling in love outwards: Eco-social work and the sensuous event

Summary: Social work is a discipline that focuses on the person-in-the-environment. However, the social domains of influence have traditionally received more attention from the profession compared with the impact of the natural world on human well-being. With the development of ecological theories, and growing threats to the environment, this gap has been addressed and now the notion of eco-social work is attracting more interest. This article builds on this corpus of work by exploring, and augmenting, the thinking of the philosopher, David Abram, and his phenomenological investigation of perception, meaning, embodiment, language and Indigenous experience. The implications for eco-social work are then addressed.

Findings: The development of Abram’s philosophical thesis is charted by reviewing his presentation of the ideas of the European phenomenologists, Edmund Husserl and Maurice Merleau-Ponty. It is argued that Abram uses phenomenology to explore the character of perception and the sensual foundations of language which, in Indigenous cultures, are connected with the natural world. A gap in Abram’s thinking is then revealed showing the need to set human perception and language within an understanding of power. Overall, this re-worked thesis is underpinned by a meta-narrative in which ecology engages with philosophy, psychology and Indigenous experience.

Applications: By grounding such ideas in Slavoj Žižek’s construct of the sensuous event, three applications within social work are evinced, namely: (i) reflecting on the sensuous event in social work education; (ii) rekindling the sensuous event with Indigenous Peoples; and (iii) instigating the sensuous event with non-Indigenous populations.

A new comparator account of auditory verbal hallucinations: how motor prediction can plausibly contribute to the sense of agency for inner speech

The comparator account holds that processes of motor prediction contribute to the sense of agency by attenuating incoming sensory information and that disruptions to this process contribute to misattributions of agency in schizophrenia. Over the last 25 years this simple and powerful model has gained widespread support not only as it relates to bodily actions but also as an account of misattributions of agency for inner speech, potentially explaining the etiology of auditory verbal hallucination (AVH). In this paper we provide a detailed analysis of the traditional comparator account for inner speech, pointing out serious problems with the specification of inner speech on which it is based and highlighting inconsistencies in the interpretation of the electrophysiological evidence commonly cited in its favor. In light of these analyses we propose a new comparator account of misattributed inner speech. The new account follows leading models of motor imagery in proposing that inner speech is not attenuated by motor prediction, but rather derived directly from it. We describe how failures of motor prediction would therefore directly affect the phenomenology of inner speech and trigger a mismatch in the comparison between motor prediction and motor intention, contributing to abnormal feelings of agency. We argue that the new account fits with the emerging phenomenological evidence that AVHs are both distinct from ordinary inner speech and heterogeneous. Finally, we explore the possibility that the new comparator account may extend to explain disruptions across a range of imagistic modalities, and outline avenues for future research.

Thermal transport in out-of-equilibrium quantum harmonic chains

We address the problem of heat transport in a chain of coupled quantum harmonic oscillators, exposed to the influences of local environments of various nature, stressing the effects that the specific nature of the environment has on the phenomenology of the transport process. We study in detail the behavior of thermodynamically relevant quantities such as heat currents and mean energies of the oscillators, establishing rigorous analytical conditions for the existence of a steady state, whose features we analyze carefully. In particular, we assess the conditions that should be faced to recover trends reminiscent of the classical Fourier law of heat conduction and highlight how such a possibility depends on the environment linked to our system.

Modulation of human corticospinal excitability by paired associative stimulation

Paired Associative Stimulation (PAS) has come to prominence as a potential therapeutic intervention for the treatment of brain injury/disease, and as an experimental method with which to investigate Hebbian principles of neural plasticity in humans. Prototypically, a single electrical stimulus is directed to a peripheral nerve in advance of transcranial magnetic stimulation (TMS) delivered to the contralateral primary motor cortex (M1). Repeated pairing of the stimuli (i.e., association) over an extended period may increase or decrease the excitability of corticospinal projections from M1, in manner that depends on the interstimulus interval (ISI). It has been suggested that these effects represent a form of associative long-term potentiation (LTP) and depression (LTD) that bears resemblance to spike-timing dependent plasticity (STDP) as it has been elaborated in animal models. With a large body of empirical evidence having emerged since the cardinal features of PAS were first described, and in light of the variations from the original protocols that have been implemented, it is opportune to consider whether the phenomenology of PAS remains consistent with the characteristic features that were initially disclosed. This assessment necessarily has bearing upon interpretation of the effects of PAS in relation to the specific cellular pathways that are putatively engaged, including those that adhere to the rules of STDP. The balance of evidence suggests that the mechanisms that contribute to the LTP- and LTD-type responses to PAS differ depending on the precise nature of the induction protocol that is used. In addition to emphasizing the requirement for additional explanatory models, in the present analysis we highlight the key features of the PAS phenomenology that require interpretation.

Equilibration and nonclassicality of a double-well potential

A double-well loaded with bosonic atoms represents an ideal candidate to simulate some of the most interesting aspects in the phenomenology of thermalisation and equilibration. Here we report an exhaustive analysis of the dynamics and steady state properties of such a system locally in contact with different temperature reservoirs. We show that thermalisation only occurs 'accidentally'. We further examine the nonclassical features and energy fluxes implied by the dynamics of the double-well system, thus exploring its finite-time thermodynamics in relation to the settlement of nonclassical correlations between the wells.

Testing quasar unification: radiative transfer in clumpy winds

Various unification schemes interpret the complex phenomenology of quasars and luminous active galactic nuclei (AGN) in terms of a simple picture involving a central black hole, an accretion disc and an associated outflow. Here, we continue our tests of this paradigm by comparing quasar spectra to synthetic spectra of biconical disc wind models, produced with our state-of-the-art Monte Carlo radiative transfer code. Previously, we have shown that we could produce synthetic spectra resembling those of observed broad absorption line (BAL) quasars, but only if the X-ray luminosity was limited to 1043 erg s-1. Here, we introduce a simple treatment of clumping, and find that a filling factor of ˜0.01 moderates the ionization state sufficiently for BAL features to form in the rest-frame UV at more realistic X-ray luminosities. Our fiducial model shows good agreement with AGN X-ray properties and the wind produces strong line emission in, e.g., Lyα and C IV 1550 Å at low inclinations. At high inclinations, the spectra possess prominent LoBAL features. Despite these successes, we cannot reproduce all emission lines seen in quasar spectra with the correct equivalent-width ratios, and we find an angular dependence of emission line equivalent width despite the similarities in the observed emission line properties of BAL and non-BAL quasars. Overall, our work suggests that biconical winds can reproduce much of the qualitative behaviour expected from a unified model, but we cannot yet provide quantitative matches with quasar properties at all viewing angles. Whether disc winds can successfully unify quasars is therefore still an open question.

‘I don’t think I’d be frightened if the statins went’: a phenomenological qualitative study exploring medicines use in palliative care patients, carers and healthcare professionals

Background