Photonic Topological Mode Bound to a Vortex.

We report the observation of a mode associated with a topological defect in the bulk of a 2D photonic material by introducing a vortex distortion to a hexagonal lattice analogous to graphene. The observed modes lie midgap at zero energy and are closely related to Majorana bound states in superconducting vortices. This is the first experimental demonstration of the Jackiw-Rossi model [R. Jackiw and P. Rossi, Nucl. Phys. B190, 681 (1981)NUPBBO0550-321310.1016/0550-3213(81)90044-4].

Quantum Refrigeration with Indefinite Causal Order.

We propose a thermodynamic refrigeration cycle which uses indefinite causal orders to achieve nonclassical cooling. The cycle cools a cold reservoir while consuming purity in a control qubit. We first show that the application to an input state of two identical thermalizing channels of temperature T in an indefinite causal order can result in an output state with a temperature not equal to T. We investigate the properties of the refrigeration cycle and show that thermodynamically, the result is compatible with unitary quantum mechanics in the circuit model but could not be achieved classically. We believe that this cycle could be implemented experimentally using tabletop photonics. Our result suggests the development of a new class of thermodynamic resource theories in which operations are allowed to be performed in an indefinite causal order.

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.

BACKGROUND: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. METHODS: Mothers of children with 13 genetic syndromes (n = 646; Angelman, Cornelia de Lange, Down, Fragile-X, Phelan McDermid, Prader-Willi, Rett, Rubenstein Taybi, Smith Magenis, Soto, Tuberous Sclerosis Complex, 1p36 deletion and 8p23 deletion syndromes) and mothers of children with autism (n = 66) completed measures of positive mental health, stress and depression. Using Bayesian methodology, the influence of syndrome, child ability, and mother and child age were explored in relation to each outcome. Bayesian Model Averaging was used to explore maternal depression, positive gain and positive affect, and maternal stress was tested using an ordinal probit regression model. RESULTS: Different child and mother factors influenced different aspects of mental well-being, and critically, the importance of these factors differed between syndromes. Maternal depression was influenced by child ability in only four syndromes, with the other syndromes reporting elevated or lower levels of maternal depression regardless of child factors. Maternal stress showed a more complex pattern of interaction with child ability, and for some groups, child age. Within positive mental health, mother and child age were more influential than child ability. Some syndromes reported comparable levels of depression (SMS, 1p36, CdLS) and stress (SMS, AS) to mothers of children with autism. CONCLUSIONS: Bayesian methodology was used in a novel manner to explore factors that explain variability in mental health amongst mothers of children with rare genetic disorders. Significant proportions of mothers of children with specific genetic syndromes experienced levels of depression and stress similar to those reported by mothers of children with autism. Identifying such high-risk mothers allows for potential early intervention and the implementation of support structures.

Effectiveness of Active Support for adults with intellectual disability in residential settings: Systematic review and meta-analysis.

BACKGROUND: The review examined the effectiveness of Active Support (RQ1) and stakeholders' experiences of the model (RQ2). METHOD: Data were meta-analysed (RQ1; studies = 14) and synthesized narratively (RQ2; studies = 10). RESULTS: By follow-up (6 months post-training), effect sizes (RQ1) for resident total activity engagement were significant and ranged from small (d = 0.33, 95% CIs: 0.10-0.50) to large (Tau-U = 0.95, 95% CIs: 0.64-1.25) depending on study design. Follow-up changes in staff assistance were moderate (d = 0.56, 95% CIs: 0.23-0.89; Tau-U 0.63, 95% CIs: 0.32-0.93) and large for quality of support (d = 1.03, 95% CIs: 0.61-1.44). Other outcomes did not change. CONCLUSIONS: Active Support was more effective following complete staff training, in larger settings, at lower staff-to-resident ratios and with less experienced staff. Active Support training and outcomes were valued by staff and residents (RQ2), and staff experienced increased job satisfaction. Lower staff turnover and organizational readiness appear crucial for maintaining implementation.

A pilot randomised controlled trial of community-led ANtipsychotic Drug REduction for Adults with Learning Disabilities.

BACKGROUND: Data suggest that approximately 50,000 adults with learning disabilities (LDs) in England and Wales are currently prescribed antipsychotic medication. Illness in this population is common, including significant rates of challenging behaviour and mental illness, but there is particular concern over the use of antipsychotics prescribed for reasons other than the treatment of psychosis. Control of challenging behaviour is the primary reason why such medications are prescribed despite the absence of good evidence for any therapeutic effect for this purpose. OBJECTIVES: To assess the feasibility of recruitment and retention and to explore non-efficacy-based barriers to a blinded antipsychotic medication withdrawal programme for adults with LDs without psychosis compared with treatment as usual. A secondary objective was to compare trial arms regarding clinical outcomes. DESIGN: A two-arm individually randomised double-blind placebo-controlled drug reduction trial. SETTING: Recruitment was through community learning disability teams (CLDTs) in south Wales and south-west England. PARTICIPANTS: Adults with LDs who are prescribed risperidone for treatment of challenging behaviour with no known current psychosis or previous recurrence of psychosis following prior drug reduction. INTERVENTION: A double-blind drug reduction programme leading to full withdrawal within 6 months. Treatment in the intervention group was gradually reduced over a 6-month period and then maintained at the same level for a further 3 months, still under blind conditions. In the control group, the baseline level of medication was maintained throughout the 9-month period. The blind was broken at 9 months, following final data collection. MAIN OUTCOME MEASURES: Feasibility outcomes were (1) the number and proportion of general practices/CLDTs that progressed from initial approach to recruitment of participants and (2) the number and proportion of recruited participants who progressed through the various stages of the study. Trial arms were also compared regarding clinical outcomes, the Modified Overt Aggression Scale, the Aberrant Behaviour Checklist, the Psychiatric Assessment Schedule for Adults with Developmental Disability checklist, the Antipsychotic Side-effect Checklist, the Dyskinesia Identification System Condensed User Scale, the Client Service Receipt Inventory, use of other interventions to manage challenging behaviour, use of as-required (pro re nata) medication and level of psychotropic medication use. RESULTS: Of the 22 participants randomised (intervention, n = 11; control, n = 11), 13 (59%) achieved progression through all four stages of reduction. Follow-up data at 6 and 9 months were obtained for 17 participants (intervention, n = 10; and control, n = 7; 77% of those randomised). There were no clinically important changes in participants' levels of aggression or challenging behaviour at the end of the study. There were no expedited safety reports. Four adverse events and one serious adverse event were reported during the trial. LIMITATIONS: Recruitment was challenging, which was largely a result of difficulty in identifying appropriate persons to consent and carer concerns regarding re-emergence of challenging behaviour. Reduced recruitment meant that the full trial became an exploratory pilot study. CONCLUSIONS: The results indicate that drug reduction is possible and safe. However, concerns about taking part were probably exacerbated by limited availability of alternative (behavioural) interventions to manage behaviour; therefore, focused support and alternative interventions are required. The results of the qualitative study provide important insights into the experiences of people taking part in drug reduction studies that should influence future trial development. FUTURE WORK: We recommend that further work focuses on support for practitioners, carers and patients in reducing antipsychotic medication. TRIAL REGISTRATION: Current Controlled Trials ISRCTN38126962. FUNDING: This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 21, No. 47. See the NIHR Journals Library website for further project information.

Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome.

PURPOSE: There is an emerging research literature on the experiences of family members of girls and women with Rett syndrome (RTT), but a lack of longitudinal data. METHODS: Fifty mothers whose daughters had RTT were surveyed 16-17 months after an earlier cross-sectional study. Measures completed at both time points focused on maternal positive and negative psychological well-being and their daughters' behavioral and emotional problems and RTT behavioral phenotype severity. RESULTS: Maternal stress, anxiety, and depression demonstrated at least moderate levels of stability. Maternal positive perceptions were also moderately stable over 16-17 months. Longitudinal analyses suggested that their daughters' behavioral and emotional problems rather than RTT behavioral phenotype severity predicted later maternal well-being. CONCLUSION: Mothers with RTT daughters experience chronic stress (persisting over time) but also ongoing positive perceptions. Practitioners should recognize positive perceptions and also consider targeted behavioral parent training to reduce behavior problems in individuals with RTT.

Direct Observation of the Behaviour of Females with Rett Syndrome.

The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were filmed at home and at school or day centre. Analysis used real-time data capture software. Observational categories distinguished engagement in social and non-social pursuits, hand stereotypies, self-injury and the receipt of attention from a parent, teacher or carer. Associations between participant behaviour and intake variables and receipt of attention were explored. Concurrent and lagged conditional probabilities between behavioural categories and receipt of attention were calculated. Receipt of adult attention was high. Engagement in activity using the hands was associated with a less severe condition and greater developmental age. Engagement in activity, whether using the hands or not, and social engagement were positively associated with receipt of support. The extent of hand stereotypies varied greatly across participants but was independent of environmental events. Six participants self-injured. There was some evidence that self-injury was related to adult attention. Participants appeared to experience a carer and attention rich environment and their levels of engagement seemed high as a result. As in the more general literature, engagement in activity was related to personal development and to social support. Self-injury contrasted with hand stereotypies in having possible environmental function.

Psychological Well-Being of Mothers and Siblings in Families of Girls and Women with Rett Syndrome.

Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters' behavioral phenotype, current health, and behavior problems, and their own and a sibling's well-being. Mothers reported increased anxiety but similar levels of depression when compared to a normative sample. Across all problem domains on the Strengths and Difficulties Questionnaire, child and adolescent siblings (n = 39) were reported by mothers to have fewer difficulties than a normative sample. The severity of their daughters' RTT behavioral phenotype predicted increased anxiety and stress for mothers. Increased RTT daughters' current health problems predicted more maternal perceptions of positive gain.

A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.

A national survey of Rett syndrome: behavioural characteristics.

BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. CONCLUSIONS: There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation.

Contact with primary care: the experience of people with intellectual disabilities.

BACKGROUND: People with intellectual disabilities experience disparities in their health and health care. Annual health checks are intended to counter such disparity by improving access to primary health care. However, little is known about their experience of having a health check or other types of contact with primary care services. MATERIALS AND METHODS: The findings of two studies which used focus groups were combined. 102 people with intellectual disabilities participated in the focus groups. RESULTS: Participants' experiences of primary care services generally, and health checks in particular, were positive. However, unanimity was rare on any of the topics discussed and a number of areas of dissatisfaction emerged. CONCLUSIONS: Further studies with larger and more representative samples are necessary as feedback from people with intellectual disabilities about their experience of contact with primary care staff might help to enhance GP knowledge about their health requirements.

Issues concerning self-report data and population-based data sets involving people with intellectual disabilities.

This article examines two methodological issues regarding ways of obtaining and analyzing outcome data for people with intellectual disabilities: (a) self-report and proxy-report data and (b) analysis of population-based data sets. Some people with intellectual disabilities have difficulties with self-reporting due to problems of understanding and communication. However, there are serious doubts about the validity of proxy data for subjective issues. One important challenge with secondary analysis of population-based data sets is the difficulty of accurately identifying survey participants with intellectual disabilities. In both areas examined, it is important to recognize these constraints when interpreting research based on such data.

Development of a scale to measure fidelity to manualized group-based cognitive behavioural interventions for people with intellectual disabilities.

The context for the present study was a cluster-randomized controlled trial of a group-based anger-management intervention, delivered by day-service staff. We aimed to develop a scale to measure the fidelity of manualized cognitive-behavioural therapy (CBT) delivered to adults with intellectual disabilities in group-based settings. A 30-item monitoring instrument (the MAnualized Group Intervention Check: MAGIC) was adapted from an existing fidelity-monitor instrument for individual CBT. Two sessions for 27 groups were observed by pairs of monitors who had no other contact with the intervention. 16 observers participated, in 15 unique pairings. Observers recorded high levels of inter-rater reliability and the scale had good internal consistency. Fidelity ratings predicted two key outcomes of the intervention, and were themselves predicted by the therapists' clinical supervisors.

Different factors influence self-reports and third-party reports of anger by adults with intellectual disabilities.

BACKGROUND: Many people with intellectual disabilities display high levels of anger, and cognitive-behavioural anger management interventions are used routinely. However, for these methods to be used optimally, a better understanding is needed of different forms of anger assessment. The aim of this study was to investigate the relationship of a range of measures to self- and carer reports of anger expression, including instruments used to assess mental health and challenging behaviour. METHOD: Adults with intellectual disabilities, who had been identified as having problems with anger control, their key-workers and home carers all rated the service users' trait anger, using parallel versions of the same instrument (the Provocation Inventory). In addition, service users completed a battery of mental health assessments (the Glasgow Depression Scale, Glasgow Anxiety Scale and Rosenberg Self-Esteem Scale), and both groups of carers completed a battery of challenging behaviour measures (the Hyperactivity and Irritability domains of the Aberrant Behavior Checklist and the Modified Overt Anger Scale). RESULTS: Participants had high levels of mental health problems (depression: 34%; anxiety: 73%) and severe challenging behaviour (26%). Hierarchical linear regression analysis was used to explore the extent to which anger ratings by the three groups of respondents were predicted by demographic factors, mental health measures and challenging behaviour measures. Older service users rated themselves as less angry and were also rated as less angry by home carers, but not by key-workers. More intellectually able service users were rated as more angry by both sets of carers, but not by the service users themselves. Significantly, mental health status (but not challenging behaviour) predicted service users' self-ratings of anger, whereas challenging behaviour (but not mental health status) predicted carers' ratings of service users' anger. CONCLUSIONS: Service users and their carers appear to use different information when rating the service users' anger. Service users' self-ratings reflect their internal emotional state and mental health, as reflected by their ratings of anxiety and depression, whereas staff rate service users' anger on the basis of overt behaviours, as measured by challenging behaviour scales.

Group-based cognitive-behavioural anger management for people with mild to moderate intellectual disabilities: cluster randomised controlled trial.

BACKGROUND: Many people with intellectual disabilities find it hard to control their anger and this often leads to aggression which can have serious consequences, such as exclusion from mainstream services and the need for potentially more expensive emergency placements. AIMS: To evaluate the effectiveness of a cognitive-behavioural therapy (CBT) intervention for anger management in people with intellectual disabilities. METHOD: A cluster-randomised trial of group-based 12-week CBT, which took place in day services for people with intellectual disabilities and was delivered by care staff using a treatment manual. Participants were 179 service users identified as having problems with anger control randomly assigned to either anger management or treatment as usual. Assessments were conducted before the intervention, and at 16 weeks and 10 months after randomisation (trial registration: ISRCTN37509773). RESULTS: The intervention had only a small, and non-significant, effect on participants' reports of anger on the Provocation Index, the primary outcome measure (mean difference 2.8, 95% CI -1.7 to 7.4 at 10 months). However, keyworker Provocation Index ratings were significantly lower in both follow-up assessments, as were service-user ratings on another self-report anger measure based on personally salient triggers. Both service users and their keyworkers reported greater usage of anger coping skills at both follow-up assessments and keyworkers and home carers reported lower levels of challenging behaviour. CONCLUSIONS: The intervention was effective in improving anger control by people with intellectual disabilities. It provides evidence of the effectiveness of a CBT intervention for this client group and demonstrates that the staff who work with them can be trained and supervised to deliver such an intervention with reasonable fidelity.

The experiences of staff taking on the role of lay therapist in a group-based cognitive behavioural therapy anger management intervention for people with intellectual disabilities.

AIM: To explore the experience of 'lay therapists' of a group-based cognitive behaviour therapy (CBT) anger management intervention. BACKGROUND: Staff employed in daytime opportunity services for adults with intellectual disabilities took on the role of 'lay therapist' to facilitate CBT groups. METHODS: They were trained and supervised by clinical psychologists and interviewed 2-6 weeks after the last group session. Their experiences were explored by means of a qualitative approach, interpretative phenomenological analysis (IPA). RESULTS: Several key themes emerged from the interview data such as 'hopes and fears', 'having a framework', 'making it work', 'observing progress', 'ingredients of success', 'the therapist role' and 'taking the group forward'. CONCLUSIONS: These themes indicate that participants' experiences had been perceived as positive for themselves, the service users as well as the relevant organization although initially the therapist role had appeared daunting.

Targeted support and telecare in staffed housing for people with intellectual disabilities: impact on staffing levels and objective lifestyle indicators.

BACKGROUND: Increased provision of out-of-family residential support is required because of demographic changes within the intellectual disabilities population. Residential support now has to be provided in a climate requiring both financial constraint and high quality service outcomes. The aim was to evaluate the quality of life consequences of living with less intensive staff support, resulting from the introduction of more targeted staff allocation coupled with telecare. METHODS: The study comprised 91 participants who lived in 33 settings. The targeted support/telecare intervention was implemented at staggered intervals in 25 of these settings (63 participants). Data on a range of participant and setting descriptors, quality of care, and a range of objective lifestyle indicators were collected at four points in time over 2 years. Impact of the intervention was evaluated using within-group comparisons over time. RESULTS: Comparison between pre- and post-intervention showed that staffing levels were significantly reduced by 23%, whereas they were constant in the absence of intervention. One health indicator improved in the absence of intervention and another improved following intervention. There were no significant changes in any other lifestyle indicators (safety, money, social and community activity, independence or choice). CONCLUSIONS: A combination of targeted support and telecare had no adverse short-term affect on participants' quality of life, but reduced staff input so it seems that they have a role to play in the strategic development of out-of-family placements for adults with intellectual disabilities. Further research is needed to explore in more detail how efficiency is achieved in practice.

A prospective case control study of psychiatric disorders in adults with epilepsy and intellectual disability.

PURPOSE: No study to date has prospectively investigated the impact of epilepsy on psychiatric disorders among adults with an intellectual disability (ID). This study aimed to determine prospectively the influence of epilepsy on the development of psychiatric disorders in adults with ID. METHOD: Psychiatric symptoms were measured prospectively over a 1-year period among 45 adults with ID and active epilepsy and 45 adults with ID without epilepsy, matched on level of ID. The 1-year incidence rate (IR) of commonly occurring Axis 1 psychiatric disorders was compared with and without controlling for possible confounding factors. Total psychiatric symptom scores over the period were compared between the two groups using repeated-measures analysis of covariance. KEY FINDINGS: Adults with epilepsy and ID had a more than seven times increased risk for developing psychiatric disorders, particularly depression and unspecified disorders of presumed organic origin, including dementia, over a 1-year period compared to those with ID only. Comparison of the psychiatric scores showed the epilepsy group to have significantly higher unspecified disorder and depression symptom scores. SIGNIFICANCE: The findings point to an increased risk of depression and unspecified disorders, including dementia, among adults with ID and epilepsy. Further exploration of the nature and treatment of these unspecified disorders may help the care of people with epilepsy and ID.