Issues in rural adolescent mental health in Australia

The mental health of adolescents living in rural Australia has received little research attention. In this article, the extant literature on rural adolescent mental health in Australia is reviewed. Given the lack of literature on this topic, the review is centered on a vignette presented at the beginning of the article. The case represented by the vignette is that of a young Australian growing up in a rural area. The issues raised – including the nature of mental health issues for rural adolescents and barriers to seeking professional help – are then discussed in terms of the available literature. The article concludes with a future focus for research efforts in the area of rural adolescent mental health.C

Affective anomia : An interventional focus for Attachment Disorder

It has been proposed that social disconnectedness at school age can stem from early unsatisfactory attachment experiences. This interpretation leads to the somewhat diffuse label "Attachment Disorder" (AD) however there exist few school-relevant interventions for the various forms of AD. A new perspective (King and Newnham, 2008) with more promising avenues for intervention has proposed that: a. AD be seen as instances of the failure to (thus far) master the fundamental socio-developmental level of Basic Trust described by Erikson and by Blos. b. The failure to experience and to master Basic Trust goes hand in hand with an inadequate ability to identify and predict emotional responses of others - this deficit being precisely linked with the social/behavioural deficits which are described as AD. c. By school age, deficient Basic Trust may be appropriately strengthened by acquiring the capacity to anticipate other people's affective responses - that is, Affective Empathy (AE). d. School relevant interventions for a range of resistant social and behavioural problems may be based upon improving AE. Building upon this interpretation and applying the communication model of Bormann's Symbolic Convergence Theory (SCT) a short class-based intervention was designed with overt goal of more exciting and interesting story writing skills to help all students, and the covert goal of improved Affective Empathy. Testing the hypothesis that AE can be changed, in a pilot study of three one hour lessons held at 2-week intervals, a group of 7 students, mean age 10y11m, found significantly improved their scores on the test of AE

Attachment disorder, basic trust and educational psychology

The label Attachment Disorder (AD) is used as either a description of a child's presentation, or as a diagnostic category. It is unclear whether this label is intended to be identical with the DSM-IV Reactive Attachment Disorder (RAD) diagnostic category, or if it is a separate diagnosis based on Randolph's Questionnaire and the premises underlying this instrument. The third option is that any allusion to "attachment" relates to a position which has evolved from Bowlby. All three variants of this diagnostic label allude to early parent-child interactions, and thus imply the need for remedial interventions at the parent-child level. There are limited options for such interventions at school. A more fruitful interpretation is that the inference of inadequate early childhood interactions designates an incomplete early psycho-social task (the development of Basic Trust) and this perspective leads towards credibly promising school-based interventions.C

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation

Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Background: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 ( BMPR2 ) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene ( EIF2AK4 ) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. Methods: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource–Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of &lt;1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. Results: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (K co ; 33% [interquartile range, 30%–35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23–38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. Conclusions: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low K co and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation. </jats:sec

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

Understanding barriers to mental health service utilization for adolescents in rural Australia

INTRODUCTION: There is a general paucity of research in the area of rural adolescent mental health in Australia, and in particular a lack of data regarding the experiences of rural adolescents who seek help for mental health problems. This study used a qualitative approach to data collection and analysis in order to assist understanding of the barriers to mental health service utilization for young people in rural communities. METHOD: A series of interviews were conducted with each of the study's participants, who ranged in age from 15 to 17 years. All participants were clients of the Child and Adolescent Mental Health Services in the rural cities of Horsham and Ararat, Victoria, Australia. RESULTS: Participants described how the lack of reliable transport to and from the mental health service affected the utilization of the service by rural young people. They also expressed concern regarding a lack of qualified professionals in their region who specialize in child and adolescent mental health. Participants reported frustration at long waiting lists and the lack of an after-hours service. One participant shared her experiences of deliberate self-harm to in order to gain access. Results also revealed that rural gossip networks and social visibility within rural communities compounded the experience of stigma and social exclusion for these young people. Furthermore, participants explained how these experiences negatively impacted on their utilization of the mental health service and their progress towards recovery. CONCLUSIONS: There are several barriers to mental health service utilization for rural adolescents which affect both their decision to access help as well as their ability to engage effectively with mental health services over time. Clinicians who work with rural adolescents need to be mindful of the influence of rural culture on mental health service utilization by young people. The co-location of mental health services and general health services is suggested as one way to reduce the fear associated with 'being seen' entering a stand-alone mental health service. It is suggested that treatment programs for adolescents in rural areas address the different types of stigma that these young people are likely to encounter. Furthermore, community and school-based interventions aimed at reducing the social stigma of young people with mental illness in rural areas is recommended.C

Rural adolescents' attitudes to seeking help for mental health problems

Little research has been undertaken into the barriers facing rural adolescents seeking help and support for mental health problems. This study presented students from rural secondary schools in Victoria with hypothetical scenarios of an adolescent living in a rural area with a mental disorder and posed questions inorder to create group discussion. The results revealed a range of perceived barriers to help-seeking that could be considered unique to rural settings. However, adolescents also expressed positive attitudes and identified a range of professional help sources available to them. The findings support recent moves towards providing school-based mental health services to young people in rural areas.C

Socioeconomic status as a mediator of the relationship between depression and rurality in Australian adolescents

The purpose of this study was to establish whether socioeconomic status would mediate the relationship between rurality and depression in a sample of Australian adolescents. Participants were 65 rural and 64 urban secondary school students from Years 11 and 12 who completed a survey that included a brief demographic questionnaire and the Centre for Epidemiological Studies - Depression Scale. Schools were selected for their degree of rurality as measured by the Accessibility and Remoteness Index for Australia, and the socioeconomic status of each individual was estimated via postal code using the Socio-Economic Index of Australia. Although a significant relationship between degree of rurality and depression was found, socioeconomic status did not mediate this relationship. These results suggest that the relationship between rurality and depression for young people is not due to simple differences in socioeconomic status between urban and rural areas. Other features of 'place' must be considered in accounting for rural-urban differences in adolescent depression.C