The Northern Ireland early onset psychosis study:Phenomenology and co-morbidity in the first 25 cases

Diagnosing psychotic disorders in young people is difficult. High rates of co-morbidity may be one reason for this difficulty, but it may also be the case that current diagnostic categories are not the most useful when approaching the care of young people with psychotic symptoms. The Northern Ireland Early Onset Psychosis Study is the first study to investigate psychotic disorders in children and adolescents in this region. Young people presenting with psychotic symptoms with onset before their 18th birthday were prospectively ascertained over a three-year period (2001-2004). Those who provided informed consent were subject to a diagnostic interview using the Kiddie-Schedule for Affective Disorders and Schizophrenia - Present and Lifetime Version. Twenty-five young people have completed the full assessment process to date. Ten young people met criteria for schizophrenia, 11 for affective psychosis, two for schizoaffective disorder and two for schizophreniform disorder. Twenty-one (80%) subjects also fulfilled criteria for at least one other DSM-IV diagnosis. In conclusion, whilst all subjects met criteria for one or other psychotic disorder, co-morbidity was common in this clinical sample. Greater awareness of the difficulties encountered when trying to reach a diagnosis in this age group may help to improve treatment outcomes.

Identifying childhood deprivation:How well do national indicators of poverty and social exclusion in Ireland Perform?

In the context of the significance that the life-cycle has been afforded in social policy discussion in Ireland, current national measures of poverty and social exclusion have been criticised for failing to capture such phenomena accurately in relation to particular stages of the life-course. In this paper we have taken advantage of the inclusion of a special module on childhood deprivation in EU-SILC 2009 to create reliable measures of both household basic deprivation and childhood deprivation. Overall, our analysis leads us to the conclusion that those exposed to childhood deprivation are generally a sub-set of the children captured by population indicators. Adopting a multidimensional and dynamic perspective on household resources and deprivation enables us to capture the large majority of children exposed to childhood deprivation. Restricting our attention to childhood deprivation would lead us to miss out on a significant number of children living in households experiencing basic deprivation but not exposed to childhood deprivation. It would be unwise to assume that such deprivation has no consequences for children. While there is clearly a value in supplementing existing national measures with child specific indicators, it would not appear sensible to rely solely on the latter.

The influence of health education on family management of childhood asthma

The purpose of this study was to examine differences in asthma management among families with a child who has moderate to severe asthma. Half of the 50 families chosen for study had participated in an intensive in-patient asthma treatment program and half had participated in an out-patient day camp. Two broad categories of outcome were examined - illness and self-management skills. Families who participated in the in-patient program exhibited a pattern of illness behaviours which indicated asthma symptoms were better managed in comparison to those families that participated in the out-patient program. It was also observed that children who participated in the in-patient program had a tendency to feel more positive about having asthma with the more self-management behaviours they practised. On the other hand, children from the out-patient program reported a more negative attitude about having asthma with the more self-management behaviours they practised.

Patterns of family adaptation to childhood asthma

This study examined patterns in adaptation among parents with a child who had moderate to severe persistent asthma. Specifically, we were interested in examining the differences in adaptation between mothers and fathers in which it was hypothesized that gender effects would be obtained in patterns of coping. Eighty-four parents participated in the study, representing 37 intact families in which both parents were present and 13 single-parent families. Within intact families, mothers exhibited greater efforts than fathers in coping patterns including strategies to acquire social support outside the family, enhance self-worth, and decrease psychological tensions. When compared to mothers in single-parent families, mothers within intact families had a greater tendency to use coping patterns related to family integration and cooperation. Such findings demonstrate a need for additional support for mothers in their role in caring for the chronically ill child. The implications of these findings for clinical practice are discussed. Copyright 2002, Elsevier Science (USA). All rights reserved.

Determinants of neuropsychological and behavioural outcomes in early childhood survivors of congenital heart disease

To evaluate the relative effect of cyanosis, surgical interventions and family processes on neuropsychological and behavioural outcomes in 4-year-old survivors of serious congenital heart disease (CHD).

Filtration procedures supplemented with mitomycin C in the management of childhood glaucoma

Aims - To evaluate the outcome of filtering procedures supplemented with mitomycin C in children with glaucoma. Methods - All patients aged 17 or younger with glaucoma who underwent filtering surgery supplemented with mitomycin C at a tertiary care centre (n = 21) during a 5 year interval (1992 and 1996) were included. One eye for each patient was entered into the analysis. The postoperative intraocular pressure (IOP), use of antiglaucoma medications, clinical stability of glaucoma, complications, and visual acuity were retrospectively evaluated. Kaplan-Meier survival curves were used to estimate the probability of success. Results - At the time of surgery mean age was 5.7 (SD 5.0) years. The most common diagnoses were trabeculodysgenesis (n = 6) and aphakic glaucoma (n = 8). Mean IOP before surgery was 35.7 (10.5) mmHg. Average length of follow up was 18.6 (14.7) months. The probability of having IOP less than 21 mmHg with no antiglaucoma medications and with clinically stable glaucoma 1 year after surgery was 76.9% in phakic eyes (n = 13) and 0% in aphakic eyes (n = 8). A phakic patient with Sturge-Weber's syndrome had choroidal effusion after surgery that resolved spontaneously. In the aphakic group one patient had retinal detachment and another developed an encapsulated bleb. Visual acuity deteriorated in one patient. Conclusion - A guarded filtration procedure with mitomycin C is relatively successful in phakic children with glaucoma, but unsuccessful in aphakic ones.

Interventions to reduce prejudice and enhance inclusion and respect for ethnic differences in early childhood: A systematic review

A systematic review was conducted of studies evaluating the effects of interventions aimed at reducing ethnic prejudice and discrimination in young children. Articles published between 1980 and 2010 and including children of 8 years and under were identified, harvested, and assessed for quality, both for the exposure/program as well as for the evaluation. In total, 32 studies (14 contact and 18 media or instruction) yielded 62 effects on attitudes and 59 effects on peer relations. An overall count of the positive (40%), non-significant (50%), and negative effects (10%) indicate a mixed picture. Overall, more attitude effects (55%) than peer relations effects (25%) were positive, and media/instruction (47%) was more successful than contact (36%). Most of the effects were observed with children from a majority ethnicity: 67% of the attitude effects were positive, and media/instruction and contact were equally effective at delivering these. Few differences were found as a function of the quality of the exposure and evaluation, but differences were found depending on the context of exposure (naturally occurring or experimental manipulation) and research design (random assignment or self-selection). In conclusion, the findings were more mixed than expected, though sufficiently strong studies exist to provide lessons for future research.


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Common variant at 16p11.2 conferring risk of psychosis

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association (GWA) study, meta-analysis and follow-up (totaling as many as 18,206 cases and 42,536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7,469 bipolar disorder cases, 1,535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46,160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T], OR = 1.08, P = 6.6 × 10−11). The new variant is located within a 593 kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium dataset; P = 0.00047 in 22,651 additional Icelanders).

Catechol-O-methyltransferase and the clinical features of psychosis

A functional polymorphism (Val-158-Met) at the Catechol-O-methyltransferase (COMT) locus has been identified as a potential etiological factor in schizophrenia. Yet the association has not been convincingly replicated across independent samples. We hypothesized that phenotypic heterogeneity might be diluting the COMT effect. To clarify the putative association, we performed an exploratory analysis to test for association between COMT and five psychosis symptom scales. These were derived through factor analysis of the Operational Criteria Checklist for Psychiatric Illness. Our sample was the Irish Study of High Density Schizophrenia Families, a large collection consisting of 268 multiplex families. This sample has previously shown a small but significant effect of the COMT Val allele in conferring risk for schizophrenia. We tested for preferential transmission of COMT alleles from parent to affected offspring (n = 749) for each of the five factor-derived scales (negative symptoms, delusions, hallucinations, mania, and depression). Significant overtransmission of the Val allele was found for mania (P <0.05) and depression (P = 0.01) scales. Examination of odds ratios (ORs) revealed a heterogeneous effect of COMT, whereby it had no effect on Negative Symptoms, but largest impact on Depression (OR = 1.4). These results suggest a modest affective vulnerability conferred by this allele in psychosis, but will require replication.

Paranoia and self-concepts in psychosis: A systematic review of the literature.

The purpose of the present study was to review systematically, research exploring the relationship between self-concepts and paranoia in psychosis. A literature search was performed by two independent raters in relevant databases (MedLine, PsychInfo and Web of Science) and articles meeting the inclusion criteria were cross-referenced. Following scrutiny according to inclusion criteria, 18 studies were selected for review. A narrative synthesis of findings, in which methodological variability is discussed, is presented relative to three key areas: the nature of the relationship between paranoia and self-concepts; the association between paranoia and discrepancies in self-concepts; the nature of the relationship between paranoia and self-concepts when other, dimensional aspects of these constructs are taken into account. The systematic literature review indicated relatively consistent findings, that paranoia is associated with more negative self-concepts when measured cross-sectionally. Results are somewhat more mixed in regards to research on paranoia and self-concept discrepancies. Studies investigating dimensional aspects of self-concepts and paranoia yield findings of particular interest, especially in regards to the association indicated between instability of self-concepts and paranoia. Limitations in research and of the present systematic review are discussed. Clinical and theoretical implications of findings are outlined and possible directions for future research are suggested.

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100kb), rare copy number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1,564 cases and 1,748 controls all from Ireland, and further extended the analysis to include an additional 5,196 UK controls. We found association with duplications at chr20p12.2 (P=0.007) and evidence of replication in large independent European schizophrenia (P=0.052) and UK bipolar disorder case-control cohorts (P=0.047). A combined analysis of Irish/UK subjects including additional psychosis cases (schizophrenia and bipolar disorder) identified 22 carriers in 11,707 cases and 10 carriers in 21,204 controls (meta-analysis CMH P value=2x10(-4) (odds ratio (OR)=11.3, 95% CI=3.7, ∞)). Nineteen of the 22 cases and 8 of the 10 controls carried duplications starting at 9.68Mb with similar breakpoints across samples. By haplotype analysis and sequencing we identified a tandem ∼149kb duplication overlapping the gene p21 Protein-Activated Kinase 7 (PAK7, also called PAK5) which was in linkage disequilibrium with local haplotypes (P=2.5x10(-21)), indicative of a single ancestral duplication event. We confirmed the breakpoints in 8/8 carriers tested and found co-segregation of the duplication with illness in two additional family members of one of the affected probands. We demonstrate that PAK7 is developmentally co-expressed with another known psychosis risk gene (DISC1) suggesting a potential molecular mechanism involving aberrant synapse development and plasticity.

Childhood in transition: growing up in ‘post-conflict’ Northern Ireland

Northern Ireland is in the early stages of transition from conflict, but progress is regularly affected by political and public discontent. A divided landscape, segregated and under-resourced communities are enduring legacies of ‘the Conflict’. Yet the political will to tackle social and community division, consult with and support communities has been lacking. Grounded in six communities most affected by poverty and the Conflict this paper illustrates the difficulties, tensions and contradictions experienced during transition and how, in the process of ‘change’, children and young people have been silenced, marginalised and
demonised.