Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease caused by mutations in the gene that encodes the protein dystrophin. Approximately 2 of 3 affected boys inherit their mutation from their carrier mother whereupon other female relatives are at risk of carrying the mutation. Female carriers are also at risk of developing cardiomyopathy and regular cardiac screening is recommended. Clinical genetics services offer genetic counselling and carrier tests for consenting relatives of DMD patients known as 'cascade screening'. We retrospectively analysed data from two genetics centres, West of Scotland and South East Thames where the latter centre operated a computer-held DMD register. Over the period, 1971-2008, a total of 843 potential carriers, in 195 West of Scotland families, were tested: 16% of 1st degree relatives and 48% of 2nd degree and more distant relatives were not tested. In South East Thames, a total of 1223 potential carriers in 349 families were tested: 49% of 1st degree and 65% of 2nd degree and more distant relatives were not tested. These data are similar to Becker muscular dystrophy/DMD carrier screening results recently reported from the Netherlands. Retrospective results from three countries indicate that despite efforts to offer extended cascade screening, significant numbers of potential carriers of DMD remain unaware of their reproductive and health risks.

What makes students engaged in learning? A time-use study of within- and between-individual predictors of emotional engagement in low-performing high schools.

Adolescents' emotional engagement plays a critical role in promoting their academic performance as well as overall psychological wellbeing. As a part of a 3-year longitudinal study, this study drew upon self-determination theory to examine three psychological predictors of emotional engagement within specific learning contexts. Ninety-four, low socioeconomic status (SES), ninth grade students (49% male; 32 Blacks, 30 Whites, and 32 Latinos) rated the perceived fulfillment of their autonomy, competence, and relatedness needs and their emotional engagement in learning settings at multiple time points over a 1-week period. Hierarchical linear modeling showed that the students' ratings of their psychological-need fulfillment and of their emotional engagement fluctuated over time and across contexts. After accounting for student gender, race/ethnicity, and prior achievement, we found that the fulfillment of each type of psychological need in a particular learning context was related to emotional engagement in that context (i.e., within-student level). The fulfillment of students' need for autonomy also was related to their emotional engagement at the aggregated level (i.e., between-student level). These findings illustrate how the psychological affordances of particular learning settings are associated with emotional engagement within and between students from low SES backgrounds.

Attitudes toward prenatal testing and pregnancy termination among a diverse population of parents of children with intellectual disabilities.

OBJECTIVE: To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD: We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenatal testing or pregnancy termination for the child's condition in a future pregnancy. RESULTS: While only 33% of the sample indicated they would not have prenatal testing, 75% were disinclined to terminate their pregnancy if their fetus was affected. In multivariable logistic regression analysis, Asians were significantly less likely than White participants to say they would forego prenatal testing (adjusted odds ratio (aOR) = 0.08, 95% confidence interval (CI) = 0.01-0.86, p = 0.037), while Latinos had lower odds of being disinclined to terminate (aOR = 0.27, 95% CI = 0.07-0.99, p = 0.048). Participants who felt that abortion for their child's condition should not be available were more likely to say they would forego prenatal testing (aOR = 5.10, 95% CI = 2.09-12.43, p < 0.001) and, not surprisingly, they were also at higher odds of being disinclined to terminate pregnancy for this condition (aOR = 13.63, 95% = CI 4.19-44.34, p < 0.001). Greater life satisfaction also was associated with being disinclined to terminate pregnancy (aOR = 3.40, 95% CI = 1.34-8.61, p = 0.010). CONCLUSION: Although many parents of children with intellectual disabilities believe they would desire information regarding their fetus in a future pregnancy, most feel they would not opt to terminate their pregnancy. As new tests for intellectual disabilities become available, determining what would be most useful to prospective parents should become a high priority.

Uptake of testing for BRCA1/2 mutations in South East Scotland.

We investigated the uptake of genetic testing by 54 families in South East Scotland with a BRCA1/2 mutation. At a median of 37 months since identification of the mutation, the overall rate of uptake of testing in 269 eligible family members was 32%. First-degree relatives were significantly (P<0.05) less likely to be referred for genetic counselling in more, compared to less, socioeconomically deprived families (46 versus 68%). Among relatives who attended for genetic counselling, females were more likely to be tested than males (76 versus 53%; P<0.05) and relatives with children more than those without children (82 versus 53%; P<0.001). Tested relatives were older than relatives who did not undergo testing (mean 41.9 versus 36.8 years, P<0.05) but did not differ in degree of relationship to the index case or in socioeconomic deprivation. Our results confirm the findings from other studies of substantially lower rates of uptake of genetic testing for BRCA1/2 mutations than anticipated in earlier predictions. Relatives in more socioeconomically deprived families were less likely to be referred for genetic counselling, which is a matter of concern. This may be partly the result of a lack of understanding of the testing process. Cascading currently does not work in breast cancer families and further work is required to investigate intrafamilial communication patterns, testing behaviour and counselling strategies.

Inequality of use of cancer genetics services by members of breast, ovarian and colorectal cancer families in South East Scotland.

Some studies have found a deficiency of male, younger and more socially deprived individuals amongst referrals to and/or attendees at cancer genetics clinics. We investigated this inequality of use of genetics services from data on 4,178 Scottish patients with a family history of breast and/or ovarian cancer (BOC) or colorectal cancer (CRC) referred from 2000--2006. Some 98% BOC and 60% CRC referrals were female. Median age of female referrals was greater in the CRC than the BOC group (45.3 vs. 38.7 years, P < 0.001). Both groups of referrals were less socially deprived than the general population (P < 0.001) and the CRC less deprived than the BOC group (P < 0.001). Some 88% patients attended the first appointment offered. Attendance was greater in the CRC group (P < 0.001) and in older patients (P < 0.001) and in the BOC group was highly significantly lower in more socially deprived patients (P < 0.001). Male relatives may feel counselling is less relevant and relatives of both sexes may delay counselling until approaching the age of onset of cancer in a relative. We suggest that medical professionals and the general public may have more knowledge about the genetics of BOC than of CRC. Thus relatives in CRC families seeking counselling are likely to be those with access to more information. The lower attendance amongst more deprived relatives in BOC families may result from poor understanding of the reason for referral. These findings confirm the need to provide male, younger and more socially deprived relatives with more helpful information on cancer genetics.

Predicting breast cancer risk: implications of a "weak" family history.

Published guidelines adopted in many countries recommend that women whose family history of breast cancer places them at a risk>or=1.7 times that of the age-matched general population, should be considered for inclusion in special surveillance programmes. However validation of risk assessment models has been called for as a matter of urgency. The databases of the four Scottish Familial Breast Cancer clinics and the Scottish Cancer Registry have been searched to identify breast cancers occurring among 1,125 women aged 40-56, with family histories placing them below the "moderate" level of genetic risk. The observed incidence over 6 years was compared with age-specific data for the Scottish population. Our findings confirm that when there are two affected relatives (one first degree) the relative risk (RR) exceeds 1.7 regardless of their ages at diagnosis. When only one (first degree) relative was affected at any age from 40 to 55, the RR does not reach 1.7 if that relative was a mother but exceeds it if the relative was a sister. The probable explanation is that sisters are more likely than mother/daughter pairs to share homozygosity for a risk allele. Surveillance programmes might therefore accommodate sisters of women affected before age 55. Evidence that "low penetrance" alleles contributing to breast cancer risk may be recessive should be taken into account in strategies for identifying them.

Building and using a social network: nurture for low-income Chinese American adolescents' learning.

Little research has examined how low-income Asian American children are supported to achieve well in school. The authors used the notion of social capital to study higher versus lower achieving Chinese adolescents from low-income backgrounds. They found that families of higher-achieving adolescents built and used more effectively three kinds of social networks in lieu of direct parental involvement: (a) designating a helper in and outside the home for the child, (b) identifying peer models for the child to emulate, and (c) involving extended kin to guide the child jointly. These forms of social capital reflect Chinese cultural values applied to the challenges of immigrant adaptation.

Long-term attendance at follow-up of women assessed as being at increased risk of developing breast cancer in south-east Scotland.

BACKGROUND: Women with a family history of breast cancer increasingly seek genetic advice and screening. In the present study we investigated referral rates and factors associated with long-term attendance for screening in Scotland. METHODS: We investigated referral rates to the genetic service over a 21-month period and long-term attendance for screening amongst the 226 women at increased risk of developing breast cancer. RESULTS: The overall annual referral rate was 0.31 per 1,000 patients on general practitioners' lists. Some 98% of women for whom it was appropriate attended at least one screening appointment and 88% were continuing to attend appointments for surveillance up to 5 years later. Attendance was significantly lower among more socially deprived patients (p < 0.01). CONCLUSIONS: These results suggest that as increasing numbers of women with a positive family history seek risk assessment and screening, current facilities may be inadequate.

Referrals of patients to colorectal cancer genetics services in south-east Scotland.

The discovery that genetic factors are involved in the aetiology of colorectal cancer, has prompted many relatives of affected individuals to seek genetic counselling and screening. This paper describes the demand for genetic services by families with colorectal cancer in south-east Scotland, their expectations and views of the service offered. The annual referral rate over the 21-month study period, for patients with a family history of colorectal cancer, was 0.11 per 1000 patients on general practitioner lists. This is one third of the rate for patients with a family history of breast cancer and in comparison with the breast cancer group, relatives of colorectal cancer patients were significantly older and less socially deprived. Approximately one third were referred via a hospital specialist unit. One hundred patients were included in the study. Mean (+/- standard deviation) age was 43 (+/- 10.7 years), 75 were female and 31 were self referrals. Before the consultation, almost half the patients had an inflated perception of their risk and there was little change at follow-up. There was an improvement in objective understanding after counselling which was sustained up to 6 months but only two thirds remembered their objective risk accurately. Most patients were satisfied with the consultation. Our findings suggest the need to educate individuals, in particular men, younger people and the more socially deprived, about the relevance of a family history of colorectal cancer and to facilitate patients' comprehension of their risk status.

Support and self-efficacy among Latino and White parents of children with ID.

Research indicates that mothers of children with ID who receive familial support experience less stress than those who receive less support. Less is known about the relation of support to mothers' evaluation of parenting self-efficacy, particularly in Latino families. We examined the relationship of different types of family support to life satisfaction and parenting self-efficacy (PSE), and explored whether income and ethnicity moderated these relationships. Interviews with 84 Latino and 37 White participants revealed that partner emotional support predicted life satisfaction and PSE in both ethnic groups, with a stronger relationship evident for the PSE of Latino mothers. Income was not a significant moderator. These findings provide guidance for more effective family interventions targeted toward Latinos.