Implications of social capital for the inclusion of people with disabilities and families in community life

This paper seeks to ascertain the usefulness of the theory of social capital as a framework for developing and sustaining the inclusion of people with disabilities and families in community life. We discuss the theoretical elements of social capital and assess its relevance when understanding both the experiences of people with disabilities and their families and the possible implications for policy and programme efforts to promote inclusion. Preliminary findings from two studies of the experiences and social networks of people with disabilities and their families in communities in regional and rural Australia are presented. It is argued that to date, people with disabilities and their families have largely been excluded from the broader social capital debate and that social capital thinking has had minimal influence on efforts to achieve the inclusion of people with disabilities into community life. It is further argued that new paradigms of support are needed that build capacity and social capital through working alongside individuals and families to influence not only outcomes for them, but also for the communities on which they live. The local area coordination model as it has developed in Australia since 1989 provides some instructive signposts for integrating individual, family and community approaches. It is concluded that social capital theory can make a contribution to inclusion theory and practice but we should use it with circumspection.

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families

Genetic screening of women from multiple-case breast cancer families and other research-based endeavors have identified an extensive collection of germline variations of BRCA1 and BRCA2 that can be classified as deleterious and have clinical relevance. For some variants, such as those in the conserved intronic splice site regions which are highly likely to alter splicing, it is not possible to classify them based on the identified DNA sequence variation alone. We studied 11 multiple-case breast cancer families carrying seven distinct splice site region genetic alterations in BRCA1 or BRCA2 (BRCA1, c.IVS6-2delA, c.IVS9-2A>C, c.IVS4-1G>T, c.IVS20+1G>A and BRCA2, c.IVS17-1G>C, c.IVS20+1G>A, c.IVS7-1G>A) and applied SpliceSiteFinder to predict possible changes in efficiency of splice donor and acceptor sites, characterized the transcripts, and estimated the average age-specific cumulative risk (penetrance) using a modified segregation analysis. SpliceSiteFinder predicted and we identified transcipts that illustrated that all variants caused exon skipping, and all but two led to frameshifts. The risks of breast cancer to age 70 yrs, averaged over all variants, over BRCA1 variants alone, and over BRCA2 variants alone, were 73% (95% confidence interval 47-93), 64% (95%CI 28-96) and 79% (95%CI 48-98) respectively (all P

Socioeconomic position, cognitive function, and clustering of cardiovascular risk factors in adolescence: Findings from the Mater University Study of Pregnancy and its outcomes

Objectives: The objectives of this study were to examine the extent of clustering of smoking, high levels of television watching, overweight, and high blood pressure among adolescents and whether this clustering varies by socioeconomic position and Cognitive function. Methods: This study was a cross-sectional analysis of 3613 (1742 females) participants of an Australian birth cohort who were examined at age 14. Results: Three hundred fifty-three (9.8%) of the participants had co-occurrence of three or four risk factors. Risk factors clustered in these adolescents with a greater number of participants than would be predicted by assumptions of independence having no risk factors and three or four risk factors. The extent of clustering tended to be greater in those from lower-income families and among those with lower cognitive function. The age-adjusted ratio of observed to expected cooccurrence of three or four risk factors was 2.70 (95% confidence interval [Cl], 1.80-4.06) among those from low-income families and 1.70 (95% Cl, 1.34-2.16) among those from more affluent families. The ratio among those with low Raven's scores (nonverbal reasoning) was 2.36 (95% Cl, 1.69-3.30) and among those with higher scores was 1.51 (95% Cl, 1.19-1.92); similar results for the WRAT 3 score (reading ability) were 2.69 (95% Cl, 1.85-3.94) and 1.68 (95% Cl, 1.34-2.11). Clustering did not differ by sex. Conclusion: Among adolescents, coronary heart disease risk factors cluster, and there is some evidence that this clustering is greater among those from families with low income and those who have lower cognitive function.

Anxiety and social worries in children with Asperger syndrome

Objective: The current study examined anxiety and social worries in a group of children with Asperger syndrome (AS). Method: Sixty-five children with AS were compared with a clinically anxious sample and a normative sample using parent and child reports. Results: Comparisons between clinically anxious children and children with AS showed similar scores on overall anxiety and on six anxiety subscales using child reports. Parent reports revealed higher ratings of overall anxiety and described children with AS experiencing more obsessive-compulsive symptoms and physical injury fears than clinically anxious children. Conclusions: Children with AS without a diagnosis of anxiety, present with more anxiety symptoms than a normal population and with a different profile than a clinically anxious population. Study limitations are identified and considerations for future research presented.

Genomewide Linkage Scan of 409 European-ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample

We report the clinical characteristics of a schizophrenia sample of 409 pedigrees-263 of European ancestry ( EA) and 146 of African American ancestry ( AA)-together with the results of a genome scan ( with a simple tandem repeat polymorphism interval of 9 cM) and follow-up fine mapping. A family was required to have a proband with schizophrenia ( SZ) and one or more siblings of the proband with SZ or schizoaffective disorder. Linkage analyses included 403 independent full-sibling affected sibling pairs ( ASPs) ( 279 EA and 124 AA) and 100 all-possible half-sibling ASPs ( 15 EA and 85 AA). Nonparametric multipoint linkage analysis of all families detected two regions with suggestive evidence of linkage at 8p23.3-q12 and 11p11.2-q22.3 ( empirical Z likelihood-ratio score [ Z(lr)] threshold >= 2.65) and, in exploratory analyses, two other regions at 4p16.1-p15.32 in AA families and at 5p14.3-q11.2 in EA families. The most significant linkage peak was in chromosome 8p; its signal was mainly driven by the EA families. Z(lr) scores >= 2.0 in 8p were observed from 30.7 cM to 61.7 cM ( Center for Inherited Disease Research map locations). The maximum evidence in the full sample was a multipoint Z(lr) of 3.25 ( equivalent Kong-Cox LOD of 2.30) near D8S1771 ( at 52 cM); there appeared to be two peaks, both telomeric to neuregulin 1 ( NRG1). There is a paracentric inversion common in EA individuals within this region, the effect of which on the linkage evidence remains unknown in this and in other previously analyzed samples. Fine mapping of 8p did not significantly alter the significance or length of the peak. We also performed fine mapping of 4p16.3-p15.2, 5p15.2-q13.3, 10p15.3-p14, 10q25.3-q26.3, and 11p13-q23.3. The highest increase in Z(lr) scores was observed for 5p14.1-q12.1, where the maximum Z(lr) increased from 2.77 initially to 3.80 after fine mapping in the EA families.

Early intervention for children and their parents following paediatric accidental injury

This study was undertaken to develop and evaluate the efficacy of an early intervention for children who had been injured in an accident. The aim of the intervention was to prevent the development of longterm psychological consequences. Brochures were developed for children, adolescents, and their parents. These brochures detailed common responses to trauma (and normalized such responses), and suggestions for minimizing any post-trauma distress. Participants were children aged 7-15 admitted to hospital for traumatic injury. The intervention was delivered to one of two hospitals, within 72 hours of the trauma. 103 children and parents participated in the study. The parents and children completed structured interviews and questionnaires 2 weeks, 4-6 weeks and 6 months post-trauma. Outcome analyses also indicated that the intervention reduced parental distress at 4-6 weeks post-trauma. The intervention did not impact significantly on child adjustment over this time period. Results of the 6 month follow-up suggested that the intervention resulted in an amelioration of child anxiety from one to six months post-trauma, whereas the controls exhibited an increase in anxiety over this time period. Overall, it was concluded that the early intervention is a simple, practical, and cost-effective method of reducing child and parent distress post-trauma.