Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study.

AIM: During the last two decades brain related comorbidities of Duchenne have received growing scientific and clinical interest and therefore systematic assessment of cognition, behaviour and learning is important. This study aims to describe the instruments currently being used in five neuromuscular clinics in Europe as well as the diagnoses being made in these clinics. METHOD: A Delphi based procedure was developed by which a questionnaire was sent to the psychologist in five of the seven participating clinics of the Brain Involvement In Dystrophinopathy (BIND) study. Instruments and diagnoses being used were inventoried for three domains of functioning (cognition, behaviour and academics) and three age groups (3-5 years, 6-18 years and adulthood 18+ years). RESULTS: Data show wide diversity of tests being used in the five centres at different age groups and different domains. For the intelligence testing there is consensus in using the Wechsler scales, but all other domains such as memory, attention, behavioural problems and reading are tested in very different ways by different instruments in the participating centres. CONCLUSION: The heterogeneity of tests and diagnoses being used in current clinical practice underlines the importance for developing a Standard Operating Procedure (SOP) to improve both clinical practice and scientific research over different countries and improve comparative work.

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.

Duchenne muscular dystrophy (DMD) is characterized by loss of dystrophin in muscle, however patients also have variable degree of intellectual disability and neurobehavioural co-morbidities. In contrast to muscle, in which a single full-length dystrophin isoform (Dp427) is produced, multiple isoforms are produced in the brain, and their deficiency accounts for the variability of CNS manifestations, with increased risk of comorbidities in patients carrying mutations affecting the 3' end of the gene, which disrupt expression of shorter Dp140 and Dp71 isoforms. A mouse model (mdx mouse) lacks Dp427 in muscle and CNS and exhibits exaggerated startle responses to threat, linked to the deficiency of dystrophin in limbic structures such as the amygdala, which normalize with postnatal brain dystrophin-restoration therapies. A pathological startle response is not a recognized feature of DMD, and its characterization has implications for improved clinical management and translational research. To investigate startle responses in DMD, we used a novel fear-conditioning task in an observational study of 56 males aged 7-12 years (31 affected boys, mean age 9.7 ± 1.8 years; 25 controls, mean age 9.6 ± 1.4 years). Trials of two neutral visual stimuli were presented to participants: one 'safe' cue presented alone; one 'threat' cue paired with an aversive noise to enable conditioning of physiological startle responses (skin conductance response and heart rate). Retention of conditioned physiological responses was subsequently tested by presenting both cues without the aversive noise in an 'Extinction' phase. Primary outcomes were the initial unconditioned skin conductance and change in heart rate responses to the aversive 'threat' and acquisition and retention of conditioned responses after conditioning. Secondary and exploratory outcomes were neuropsychological measures and genotype associations. The mean unconditioned skin conductance response was greater in the DMD group than controls [mean difference 3.0 µS (1.0, 5.1); P = 0.004], associated with a significant threat-induced bradycardia only in the patient group [mean difference -8.7 bpm (-16.9, -0.51); P = 0.04]. Participants with DMD found the task more aversive than controls, with increased early termination rates during the Extinction phase (26% of DMD group versus 0% of controls; P = 0.007). This study provides the first evidence that boys with DMD show similar increased unconditioned startle responses to threat to the mdx mouse, which in the mouse respond to brain dystrophin restoration. Our study provides new insights into the neurobiology underlying the complex neuropsychiatric co-morbidities in DMD and defines an objective measure of this CNS phenotype, which will be valuable for future CNS-targeted dystrophin-restoration studies.

Development of a novel startle response task in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD), an X-linked childhood-onset muscular dystrophy caused by loss of the protein dystrophin, can be associated with neurodevelopmental, emotional and behavioural problems. A DMD mouse model also displays a neuropsychiatric phenotype, including increased startle responses to threat which normalise when dystrophin is restored in the brain. We hypothesised that startle responses may also be increased in humans with DMD, which would have potential translational therapeutic implications. To investigate this, we first designed a novel discrimination fear-conditioning task and tested it in six healthy volunteers, followed by male DMD (n = 11) and Control (n = 9) participants aged 7-12 years. The aims of this methodological task development study were to: i) confirm the task efficacy; ii) optimise data processing procedures; iii) determine the most appropriate outcome measures. In the task, two neutral visual stimuli were presented: one 'safe' cue presented alone; one 'threat' cue paired with a threat stimulus (aversive noise) to enable conditioning of physiological startle responses (skin conductance response, SCR, and heart rate). Outcomes were the unconditioned physiological startle responses to the initial threat, and retention of conditioned responses in the absence of the threat stimulus. We present the protocol development and optimisation of data processing methods based on empirical data. We found that the task was effective in producing significantly higher physiological startle SCR in reinforced 'threat' trials compared to 'safe' trials (P < .001). Different data extraction methods were compared and optimised, and the optimal sampling window was derived empirically. SCR amplitude was the most effective physiological outcome measure when compared to SCR area and change in heart rate, with the best profile on data processing, the least variance, successful conditioned response retention (P = .01) and reliability assessment in test-retest analysis (rho = .86). The definition of this novel outcome will allow us to study this response in a DMD population.

A preliminary investigation of a novel method to manipulate penis length to measure female sexual satisfaction: a single-case experimental design.

OBJECTIVES: To investigate a novel methodology and explore whether artificially reducing the depth of penetration during intercourse matters to women. STUDY DESIGN AND METHODS: A study with a single-case experimental design ('n of 1'), in which a heterosexual couple act as their own control and the study is then replicated in subsequent couples, was conducted. Thirty-five couples were assessed for eligibility to participate. Twenty-nine couples without any sexual problems were randomized and 12 submitted sufficient data to analyse. As a proxy for reducing penis length, we artificially reduced the depth of penetration by using different sizes of silicone rings around the base of the man's erect penis. The main outcome measures were provided by the female partner on a scale of 0-100 and comprised: degree of (i) overall sexual pleasure; (ii) sexual pleasure from intercourse alone; and (iii) emotional connection to the male partner. The female partner was also asked before the experiment began to rate the degree of positive or negative change that would be personally meaningful for her. RESULTS: On average, reducing the depth of penetration led to a statistically significant 18% reduction of overall sexual pleasure with an average 15% reduction in length of the penis. The longer the erect penis, the less likely the rings were to have an impact on sexual pleasure. There was a range of individual responses, however, with a minority of women reporting that reducing the depth of penetration was more pleasurable on some occasions. CONCLUSIONS: Size may matter in women in a healthy stable relationship when there is penile shortening. Because of the small number of couples and the inclusion of men with an apparently long penis, our results are preliminary, and we welcome replication in a larger sample with a more diverse range of penile lengths. Our results should not be misinterpreted as meaning that increasing penile length will increase sexual pleasure in women.

A role for the cerebellum in the control of verbal interference: Comparison of bilingual and monolingual adults.

We evaluate brain structure sensitivity to verbal interference in a sentence interpretation task, building on previously reported evidence that those with better control of verbal interference show higher grey matter density in the posterior paravermis of the right cerebellum. We compare brain structure sensitivity to verbal interference control across two groups, English monolingual (N = 41) and multilingual (N = 46) adults. Using voxel-based morphometry, our primary goal was to identify and explore differences in regional patterns of grey matter sensitivity to performance on the sentence interpretation task, controlling for group variability in age, nonverbal reasoning and vocabulary knowledge. There was no group difference in performance but there was a significant group effect in grey matter sensitivity to task performance in our region of interest: stronger sensitivity in the paravermis in bilinguals compared to monolinguals in accuracy performance in the high (relative to low) verbal interference condition. This effect was observed when the linguistic interference was presented in an unfamiliar language (Greek) but not when presented in the familiar language (English). Our findings suggest that multilanguage acquisition mediates regional involvement within the language network, conferring enhanced functional plasticity within structures (including the paravermis) in the service of control of linguistic interference.

Developmental trajectories of control of verbal and non-verbal interference in speech comprehension in monolingual and multilingual children.

Research on speech comprehension in noise indicates that a multilinguistic experience may confer advantages in filtering out verbal interference, an effect observed both in children acquiring two or more languages since birth (Filippi, Morris, Richardson, et al., 2015) and in second language learner adults (Filippi, Leech, Thomas, et al., 2012). A possible interpretation for this advantage is that the multilingual mind is "trained" to control interference from the language not in use. This constant effort may support optimization of cognitive resources that are necessary for successfully selecting, processing and interpreting complex linguistic information. The present study aimed to extend this line of research by including a non-verbal interference condition. 209 typically developing children (132 English monolinguals and 77 multilinguals from different linguistic backgrounds) carried out a sentence interpretation task in the presence of verbal and non-verbal interference. We found no evidence for a reliable group difference in our data. Instead, findings indicated that background cognitive ability and socioeconomic status were the best indicators of successful control of interference, irrespective of whether participants were bilingual or monolingual. These findings are discussed in the light of previous research and, more widely, on the account of the current debate on the bilingual advantage.

The psychiatric ward environment and nursing observations at night: A qualitative study.

WHAT IS KNOWN ON THE SUBJECT?: Nursing observations at night are conducted on psychiatric wards to ensure the safety and well-being of patients as well as to reduce the risk of suicide or severe harm. To our knowledge, no studies have examined the lived experience of the psychiatric ward environment and of nursing observations at night. WHAT DOES THE PAPER ADD TO EXISTING KNOWLEDGE?: The main complaint from patients was the constant interruption of their sleep, as most of the patients in this study were observed 2-4 times an hour. Their sleep was interrupted by (a) the light from torches shone into their faces by staff checking on their safety, (b) the noises produced by the opening and closing of bedroom/ward doors, and/or (c) staff talking to each other during the observation. Patients also reported that they found having somebody enter the room in the middle of the night intimidating and unsettling. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Poor sleep has been associated with an increase in suicide risk and mental health problems. Identifying practices that promote sleep hygiene is vital. The study could be used to develop a Quality Improvement Project to improve patients' sleep and perhaps reduce duration of stay. ABSTRACT: Introduction A fundamental component of nursing care is observations at night to ensure the well-being of patients. However, there is no literature on the lived experience by inpatients of such observations or of the general environment of a psychiatric ward at night. Aim/Question This study aims (a) to understand the lived experience of being an inpatient on a psychiatric ward at night with a focus on intermittent observations and (b) contribute to developing a tool to monitor the psychiatric ward environment for use in quality improvement projects. Method Semi-structured interviews were conducted with twelve inpatients from five psychiatric wards who had experienced intermittent observations at night. These interviews were subsequently transcribed and analysed using content analysis. Results Environmental disturbances including light and noise, invasion of privacy and safety considerations on the ward all contributed to sleep disturbance. The unintended consequences of disturbances caused by intermittent night observations, and by staff in general and other patients formed the core of the inpatients' experience. We developed a clinical tool that could be used to identify the factors that are relevant on an individual ward. Discussion Participants interviewed unanimously agreed that poor sleep quality had a significant negative impact on their psychological and social well-being. These were discussed in relation to the environment and the experience of observations at night. Implications for nursing practice Deprivation of inpatients' sleep is currently under-reported, and the usefulness of intermittent observations at night in psychiatric wards is questioned. Much could be done to adjust the environment at night to support quality sleep and improve psychiatric symptoms. This paper aims to highlight the lived experience of patients to help bring improvements.

Evidence against a cognitive advantage in the older bilingual population.

Recent evidence has challenged long-standing claims that multi-language acquisition confers long-term advantages in executive function and may protect against age-related cognitive deterioration. We assessed evidence for a bilingual advantage in older monolingual and bilingual residents matched on age, gender, and socioeconomic status. A comprehensive battery of tests was administered to measure non-verbal reasoning, working memory capacity, visuo-spatial memory, response inhibition, problem solving, and language proficiency. Analyses, including Bayes factors, revealed comparable performance in both groups, with no significant differences on any task (and the only trend, found for the Tower of London task performance, indicated a monolingual advantage). Overall, therefore, our findings run counter to the bilingual advantage hypothesis. We consider the implications of our study and offer suggestions for future work in this area.

The Importance of Socioeconomic Status as a Modulator of the Bilingual Advantage in Cognitive Ability.

Between-group variability in socioeconomic status (SES) has been identified as a potentially important contributory factor in studies reporting cognitive advantages in bilinguals over monolinguals (the so called "bilingual advantage"). The present study addresses the potential importance of this alternative explanatory variable in a study of low and high SES bilingual and monolingual performance on the Simon task and the Tower of London (TOL) task. Results indicated an overall bilingual response time advantage on the Simon task, despite equivalent error rates. Socioeconomic status was an important modulator in this effect, with evidence that bilingualism may be particularly important in promoting speed of processing advantages in low status individuals but have little impact in high status individuals. However, there was a monolingual advantage on the TOL test of executive planning ability. Together, our findings run counter to the central assertion of the bilingual advantage account, that the process of multi-language acquisition confers a broad cognitive advantage in executive function. We discuss these findings in the context of SES as an important modulator in published studies advocating a bilingual cognitive advantage.

A new method for mapping perceptual biases across visual space.

How we perceive the environment is not stable and seamless. Recent studies found that how a person qualitatively experiences even simple visual stimuli varies dramatically across different locations in the visual field. Here we use a method we developed recently that we call multiple alternatives perceptual search (MAPS) for efficiently mapping such perceptual biases across several locations. This procedure reliably quantifies the spatial pattern of perceptual biases and also of uncertainty and choice. We show that these measurements are strongly correlated with those from traditional psychophysical methods and that exogenous attention can skew biases without affecting overall task performance. Taken together, MAPS is an efficient method to measure how an individual's perceptual experience varies across space.

Cortical idiosyncrasies predict the perception of object size.

Perception is subjective. Even basic judgments, like those of visual object size, vary substantially between observers and also across the visual field within the same observer. The way in which the visual system determines the size of objects remains unclear, however. We hypothesize that object size is inferred from neuronal population activity in V1 and predict that idiosyncrasies in cortical functional architecture should therefore explain individual differences in size judgments. Here we show results from novel behavioural methods and functional magnetic resonance imaging (fMRI) demonstrating that biases in size perception are correlated with the spatial tuning of neuronal populations in healthy volunteers. To explain this relationship, we formulate a population read-out model that directly links the spatial distribution of V1 representations to our perceptual experience of visual size. Taken together, our results suggest that the individual perception of simple stimuli is warped by idiosyncrasies in visual cortical organization.