The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding L-3-hydroxyacyl-CoA dehydrogenase II displayed a sequence alteration (c.574 C-->A; p.R192R) in all patients and carrier females that was absent in unaffected male family members and could not be found in 2,500 control X chromosomes, including in those of 500 healthy males. The silent C-->A substitution is located in exon 5 and was shown by western blot to reduce the amount of HADH2 protein by 60%-70% in the patient. Quantitative in vivo and in vitro expression studies revealed a ratio of splicing transcript amounts different from those normally seen in controls. Apparently, the reduced expression of the wild-type fragment, which results in the decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, is pathogenic. Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.

Stimulation of osteogenic and angiogenic ability of cells on polymers by pulsed laser deposition of uniform akermanite-glass nanolayer

Polymer biomaterials have been widely used for bone replacement/regeneration because of their unique mechanical properties and workability. Their inherent low bioactivity makes them lack osseointegration with host bone tissue. For this reason, bioactive inorganic particles have been always incorporated into the matrix of polymers to improve their bioactivity. However, mixing inorganic particles with polymers always results in inhomogeneity of particle distribution in polymer matrix with limited bioactivity. This study sets out to apply the pulsed laser deposition (PLD) technique to prepare uniform akermanite (Ca2MgSi2O7, AKT) glass nanocoatings on the surface of two polymers (non-degradable polysulfone (PSU) and degradable polylactic acid (PDLLA)) in order to improve their surface osteogenic and angiogenic activity. The results show that a uniform nanolayer composed of amorphous AKT particles (∼30nm) of thickness 130nm forms on the surface of both PSU and PDLLA films with the PLD technique. The prepared AKT-PSU and AKT-PDLLA films significantly improved the surface roughness, hydrophilicity, hardness and apatite mineralization, compared with pure PSU and PDLLA, respectively. The prepared AKT nanocoatings distinctively enhance the alkaline phosphate (ALP) activity and bone-related gene expression (ALP, OCN, OPN and Col I) of bone-forming cells on both PSU and PDLLA films. Furthermore, AKT nanocoatings on two polymers improve the attachment, proliferation, VEGF secretion and expression of proangiogenic factors and their receptors of human umbilical vein endothelial cells (HUVEC). The results suggest that PLD-prepared bioceramic nanocoatings are very useful for enhancing the physicochemical, osteogenic and angiogenic properties of both degradable and non-degradable polymers for application in bone replacement/regeneration.

Partial mediation role of self-efficacy between positive social interaction and mental health in family caregivers for dementia patients in Shanghai

We explored the mediation effect of caregiver self-efficacy on the influences of behavioral and psychological symptoms (BPSD) of dementia care recipients (CRs) or family caregivers’ (CGs) social supports (informational, tangible and affectionate support and positive social interaction) on CGs’ mental health. We interviewed 196 CGs, using a battery of measures including demographic data of the dyads, CRs’ dementia-related impairments, and CGs’ social support, self-efficacy and the Medical Outcome Study (MOS) Short-Form (SF-36) Health Survey. Multiple regression analyses showed that gathering information on self-efficacy and managing CG distress self-efficacy were the partial mediators of the relationship between positive social interaction and CG mental health. Managing caregiving distress self-efficacy also partial mediated the impact of BPSD on CG mental health. We discuss implications of the results for improving mental health of the target population in mainland China.

Research participation by people with intellectual disability and mental health issues : an examination of the processes of consent

Balancing the demands of research and ethics is always challenging and even more so when recruiting vulnerable groups. Within the context of current legislation and international human rights declarations, it is strongly advocated that research can and must be undertaken with all recipients of health care services. Research in the field of intellectual disability presents particular challenges in regard to consenting processes. This paper is a critical reflection and analysis of the complex processes undertaken and events that occurred in gaining informed consent from people with intellectual disability to participate in a study exploring their experiences of being an inpatient in mental health hospitals within Aotearoa/New Zealand. A framework based on capacity, information and voluntariness is presented with excerpts from the field provided to explore consenting processes. The practical implications of the processes utilised are then discussed in order to stimulate debate regarding clearer and enhanced methods of gaining informed consent from people with intellectual disability.

Socio-demographic characteristics, modifiable lifestyle factors, and health as predictors of mental health in midlife and older Australian women: a multilevel investigation

Background Poor mental health is a significant cause of morbidity and mortality, yet debate continues about factors most likely to predict poor mental health outcomes. Objective This cohort study examines the influence of modifiable lifestyle factors, menopausal symptoms, and physical health on the mental health of midlife and older Australian women. Methods: Random sampling was used to recruit women aged 40-55, from rural and urban areas of Queensland, Australia. Overall, 340 women completed mailed surveys on socio-demographic characteristics, midlife symptoms (Greene Climacteric Scale©), modifiable lifestyle factors, and mental health (SF-12©) in 2001, 2004 and 2011. Hierarchical repeated-measure models were used to explore the correlates of poor mental health over time. Results The mean age [SD] at baseline was 55 [2.7] years, most were married (73%, n=248) and 18% were pre-menopausal. The model suggested that variance in mental health widened and showed a non-linear increase with age. Decrements in mental health were associated with an increase in midlife symptoms (Greene psychological scale, P <0.01; Greene somatic scale, P <0.05), time (P <0.01), poor physical health (P <0.01) and individual variance (P <0.01). Socio-demographics and lifestyle factors had little influence on mental health over time. Conclusion Findings suggest that while women’s mental health may decline during midlife, the effect is temporary; in older women, physical health and individual factors seem to be increasingly significant. This research highlights the importance of active health promotion as a means of enhancing both physical and mental health in midlife women.

Insider comes out : an artist's inquiry and narrative about the relationship of art and mental health

Background Through an account of prevailing experiences of art and mental illness, this paper aims to raise awareness, open dialogue and create agency about art created by people with experience of mental illness. Methods This paper draws on personal narrative and inquiry by an artist with mental illness and data collected as part of a larger participatory action research project that investigated understandings of identity, art and mental illness. Result An inquiry through art raised awareness and attentiveness to the importance of choice in identity construction and exposed frequent dichotomies in art and mental illness that were negotiated to eschew prescribed social stratification. As an artist, the first author challenged values present in one idea and absent in the other, and the options and concessions available to authorise her own dialogue and agency of being an artist. Conclusion Constructing an identity is an important part of being human, the labels that we choose or are chosen for us attribute to our identity. Reflections and recommendations are offered to consider expanded ways of thinking about art and mental illness and the functions that art play in identity construction.

The importance of social support for students with intellectual disability : an intervention to promote mental health and well-being

Children and adolescents with intellectual disability have higher rates of mental health problems compared with there typically developing peers. Social support has been identified as an important protective factor for psychological well - being. In this paper we discuss the benefits of social support networks, and consider approaches for promoting children’s perceptions of the availability of social support. We describe an evidence-based intervention that has been specially adapted and implemented for students with intellectual disability in school settings. In a randomised controlled trial, the Aussie Optimism Resilience Skills Program was associated with improved perceptions of social support following a 10-week intervention. Educators need to be aware of the increased vulnerability of students with intellectual disability to the development mental health problems and the proactive ways in which they can promote psychological well - being within their classrooms.

Ability of recombinant human bone morphogenetic protein 2 to enhance bone healing in the presence of tobramycin : evaluation in a rat segmental defect model

Objective To determine whether locally applied tobramycin influences the ability of recombinant human bone morphogenetic protein 2 (rhBMP-2) to heal a segmental defect in the rat femur. Methods The influence of tobramycin on the osteogenic differentiation of mesenchymal stem cells was first evaluated in vitro. For the subsequent, in vivo experiments, a 5-mm segmental defect was created in the right femur of each of 25 Sprague-Dawley rats and stabilized with an external fixator and four Kirschner wires. Rats were divided in four groups: empty control, tobramycin (11 mg)/absorbable collagen sponge, rhBMP-2 (11 μg)/absorbable collagen sponge, and rhBMP-2/absorbable collagen sponge with tobramycin. Bone healing was monitored by radiography at 3 and 8 weeks. Animals were euthanized at 8 weeks and the properties of the defect were compared with the intact contralateral femur. Bone formation in the defect region was assessed by dual-energy x-ray absorptiometry, microcomputed tomography, histology, and mechanical testing. Results Tobramycin exerted a dose-dependent inhibition of alkaline phosphatase induction and calcium deposition by mesenchymal stem cells cultured under osteogenic conditions. The inhibition was reversed in the presence of 500 ng/mL of rhBMP-2. Segmental defects in the rat femora failed to heal in the absence of rhBMP-2. Tobramycin exerted no inhibitory effects on the ability of rhBMP-2 to heal these defects and increased the bone area of the defects treated with rhBMP-2. Data obtained from all other parameters of healing, including dual-energy x-ray absorptiometry, microcomputed tomography, histology, and mechanical testing, were unaffected by tobramycin. Conclusions Although our in vitro results suggested that tobramycin inhibits the osteogenic differentiation of mesenchymal stem cells, this could be overcome by rhBMP-2. Tobramycin did not impair the ability of rhBMP-2 to heal critical-sized femoral defects in rats. Indeed, bone area was increased by nearly 20% in the rhBMP-2 group treated with tobramycin. This study shows that locally applied tobramycin can be used in conjunction with rhBMP-2 to enhance bone formation at fracture sites.

Self-regulation from birth to age seven : associations with maternal mental health, parenting, and social, emotional and behavioural outcomes for children

Self-regulation refers to our individual capacities to regulate our behaviours, emotions, and thoughts, with these skills developing rapidly across early childhood. This thesis examined sleep, emotional, and cognitive regulation development, and related parental influences, for children participating in the Longitudinal Study of Australian Children. Important longitudinal associations among children's self-regulation, maternal mental health, parenting, and later behaviour problems for children were also investigated. A unique contribution of this research was a prevalence estimate of early childhood self-regulation problems in Australian children that was documented for the first time.

Eldercare demands, mental health, and work performance : the moderating role of satisfaction with eldercare tasks

Due to demographic changes, a growing number of employees provide in-home care to an elderly family member. Previous research suggested a negative relationship between employees' eldercare demands and their work performance. However, the empirical nature of this relationship and its boundary conditions and mediating mechanisms have been neglected. The goal of this multisource study was to examine a mediated-moderation model of eldercare demands, mental health, and work performance. Drawing on the theory of conservation of resources (Hobfoll, 1989), it was expected that employees' satisfaction with eldercare tasks would buffer the negative relationship between eldercare demands and work performance, and that mental health would mediate this moderating effect. Data were collected from 165 employees providing in-home eldercare, as well as from one colleague and one family member of each employee. Results of mediated-moderation analyses supported the hypothesized model. The findings suggest that interventions that aim to increase employees' satisfaction with eldercare tasks may help protect employees from the negative effects of high eldercare demands on mental health and, subsequently, on work performance.

Factors that influence young people's mental health help‐seeking behaviour : a study based on the Health Belief Model

Aim To identify key predictors and moderators of mental health ‘help-seeking behavior’ in adolescents. Background Mental illness is highly prevalent in adolescents and young adults; however, individuals in this demographic group are among the least likely to seek help for such illnesses. Very little quantitative research has examined predictors of help-seeking behaviour in this demographic group. Design A cross-sectional design was used. Methods A group of 180 volunteers between the ages of 17–25 completed a survey designed to measure hypothesized predictors and moderators of help-seeking behaviour. Predictors included a range of health beliefs, personality traits and attitudes. Data were collected in August 2010 and were analysed using two standard and three hierarchical multiple regression analyses. Findings The standard multiple regression analyses revealed that extraversion, perceived benefits of seeking help, perceived barriers to seeking help and social support were direct predictors of help-seeking behaviour. Tests of moderated relationships (using hierarchical multiple regression analyses) indicated that perceived benefits were more important than barriers in predicting help-seeking behaviour. In addition, perceived susceptibility did not predict help-seeking behaviour unless individuals were health conscious to begin with or they believed that they would benefit from help. Conclusion A range of personality traits, attitudes and health beliefs can predict help-seeking behaviour for mental health problems in adolescents. The variable ‘Perceived Benefits’ is of particular importance as it is: (1) a strong and robust predictor of help-seeking behaviour, and; (2) a factor that can theoretically be modified based on health promotion programmes.

The impact of users' characteristics on their ability to detect phishing emails

We investigate how email users' characteristics influence their response to phishing emails. A user generally goes through three stages of behaviour upon receiving a phishing email: suspicion of the legitimacy of the email, confirmation of its legitimacy and response by either performing the action requested in the phishing email or not. Using a mixed method approach combining experiments, surveys and semi-structured interviews, we found that a user's behaviour at each stage varies with their personal characteristics such as personality traits and ability to perceive information in an email beyond its content. We found, for example, that users who are submissive, extraverted or open tend to be less suspicious of phishing emails while users who can identify cues such as inconsistent IP address, can avoid falling victim to phishing emails. Our findings enable us to draw practical implications for educating and potentially reducing the incidence of phishing emails victimisation.

The effects of rurality on mental and physical health

The effects of rurality on physical and mental health are examined in analyses of a national dataset, the Community Tracking Survey, 2000-2001, that includes individual level observations from household interviews. We merge it with county level data reflecting community resources and use econometric methods to analyze this multi-level data. The statistical analysis of the impact of the choice of definition on outcomes and on the estimates and significance of explanatory variables in the model is presented using modern econometric methods, and differences in results for mental health and physical health are evaluated. © 2010 Springer Science+Business Media, LLC.

Shortages of rural mental health professionals

This study presents a conceptual model of the supply and demand for mental health professionals. It uses national data to profile differences in the supply of mental health professionals in different types of rural and urban areas. It contrasts the availability of general health and mental health professionals. It examines shortage areas identified in 2000 and their related community characteristics. Because of the absence of data on a national level to describe many types of mental health professionals state licensure data for one state were used to show the volume and distribution of these practitioners. To improve rural mental health service delivery it will be necessary to implement system changes to promote the increased availability, competency, and support of rural health professionals. Copyright 2003, Elsevier Science (USA). All rights reserved.