Rafat Hussain

The changing survival profile of people with Down's syndrome: implications for genetic counselling

Cohort studies have indicated that the survival of individuals with Downs syndrome has dramatically increased over the past 50 years. Early childhood survival in particular has shown major improvement, due largely to advances in cardiac surgery and in general health management. The present study was based on a continuous cohort of 1332 people with Downs syndrome in Western Australia, registered for intellectual disability services between 1953 and 2000. Their life expectancy was 58.6 years, 25% lived to 62.9 years, and the oldest living person is 73 years of age. Life expectancy for males was greater than females by 3.3 years. The substantial increase in survival across the study period means that the life expectancy of people with Downs syndrome is approaching that of the general population, but accompanied by a range of significant mid‐life health problems. The findings are of relevance to all developed countries and have considerable implications in terms of the counselling information provided to families at risk of having a child with Downs syndrome.

The prevalence and demographic characteristics of consanguineous marriages in Pakistan

Consanguineous marriages are strongly preferred in much of West and South Asia. This paper examines the prevalence and sociodemographic correlates of consanguineous unions in Pakistan using local and national data. Information from 1011 ever-married women living in four multi-ethnic and multi-lingual squatter settlements of Karachi, the main commercial centre of the country, are compared with data from the national 1990/91 Pakistan Demographic and Health Survey (PDHS), based on information provided by 6611 women. Both sets of results indicate that approximately 60% of marriages were consanguineous, over 80% of which were between first cousins. The mean coefficients of inbreeding (F) in the present generation were 0.0316 and 0.0331 for the Karachi and PDHS data respectively. In both surveys the prevalence of consanguineous unions appeared to be unchanged over the past three to four decades. Consanguineous unions were more common among women who were illiterate or had only primary level education, were first or second generation migrants from rural areas of Pakistan or, in the PDHS, lived in rural areas, and whose parents were also consanguineously married.

Mental and Physical Health and Intimate Partner Violence against Women: A Review of the Literature

Associations between intimate partner violence (IPV) and poor physical and mental health of women have been demonstrated in the international and national literature across numerous studies. This paper presents a review of the literature on this topic. The 75 papers included in this review cover both original research studies and those which undertook secondary analyses of primary data sources. The reviewed research papers published from 2006 to 2012 include quantitative and qualitative studies from Western and developing countries. The results show that while there is variation in prevalence of IPV across various cultural settings, IPV was associated with a range of mental health issues including depression, PTSD, anxiety, self-harm, and sleep disorders. In most studies, these effects were observed using validated measurement tools. IPV was also found to be associated with poor physical health including poor functional health, somatic disorders, chronic disorders and chronic pain, gynaecological problems, and increased risk of STIs. An increased risk of HIV was reported to be associated with a history of sexual abuse and violence. The implications of the study findings in relation to methodological issues, clinical significance, and future research direction are discussed.

Breast cancer and the uptake of mammography screening services by women with intellectual disabilities

BACKGROUND It is estimated that approximately 50% of women in Australia with intellectual disability will live to 70 years of age and as a result many will fall within the age group at highest risk for breast cancer (50-69 years). METHODS Subjects were identified through the Western Australia Disability Services database. To determine the number of women diagnosed with breast cancer during the period 1982-2000, individual records (n = 2,370) were linked to the Western Australia Cancer Registry and the Mammography Screening Registry. RESULTS The incidence of breast cancer among women with intellectual disability was 64.0 per 100,000 person-years, by comparison with 146.7 per 100,000 person-years in the general population. The uptake of breast cancer screening was examined in a subgroup of 380 women, 34.7% of whom had used mammographic screening, as opposed to 54.6% screening uptake in the general population. Failure to use screening services was highest in women who were unmarried, and was positively associated with severity of intellectual disability, presence of physical disabilities, and urban residence. CONCLUSIONS The lower incidence of breast cancer in women with intellectual disability may in part be attributable to decreased life expectancy, but it also appears to reflect significant under utilization of the readily available screening services.

Consanguineous marriages and their effects on common adult diseases: studies from an endogamous population.

Objectives: The aim of the study was to determine the extent and nature of consanguinity in the Qatari population and its effects on common adult diseases. Subjects and Methods: The study was conducted in urban and semi-urban areas of Qatar between October 2004 and May 2005. The total sample of 1,050 married Qatari females 15 years of age and over were approached for study. The degree of consanguinity between each female and her spouse and the degree of consanguinity between their parents were recorded. Results: Of 1,050 married Qatari females who were approached, 876 agreed to participate in the study, giving an 83.4% response. The rate of consanguinity in the present generation was 51% (95% confidence interval = 47.7–54.4) with a coefficient of inbreeding of 0.023724. The consanguinity rate and coefficient of inbreeding in the current generation were significantly higher than the maternal rate (51.0 vs. 40.3%; p < 0.001; 0.023724 vs. 0.016410 maternal). All types of consanguineous marriages were higher in this generation, particularly first cousins (26.7 vs. 21.4% paternal and 23.1% maternal) and double first cousins (4.3 vs. 2.9% paternal and 0.8% maternal). The current generation of consanguineous parents had a slightly higher risk for most diseases: cancer, mental disorders, heart diseases, gastro-intestinal disorders, hypertension, hearing deficit and diabetes mellitus. All reported diseases were more frequent in consanguineous marriages. Conclusion: The study showed that in a population with a high rate of consanguinity, there is a significant increase in the prevalence of common adult diseases like cancer, mental disorders, heart diseases, gastro-intestinal disorders, hypertension and hearing deficit.

Psychological Health in Midlife Among Women Who Have Ever Lived With a Violent Partner or Spouse

This study examines the psychological health correlates of domestic violence in a large random sample of mid-aged Australian women (N = 11,310, age 47 to 52 years). Logistic regressions were used to investigate the associations between domestic violence and depression, anxiety, and psychological wellbeing, after adjusting for demographic variables (marital status, income management, area). Results indicate increased odds of having experienced domestic violence for those who had: ever experienced a diagnosis of depression, anxiety, or an “other” psychiatric disorder; recent symptoms of depression and anxiety; used psychoactive medication for depression or anxiety in the 4 weeks prior to the survey; and who reported current depression. Current psychological well-being had an inverse association with a history of domestic violence: As psychological well-being decreased, the odds of having ever experienced domestic violence increased. The results indicate that a history of domestic violence is associated with decreased psychological well-being in mid-aged Australian women.

An analysis of consanguineous marriage in the Muslim population of India at regional and state levels

Consanguineous marriage is widely favoured in a large majority of the worlds Islamic populations. According to recent estimates, the resident Muslim population of India is over 100 million. However, apart from a few numerically small or geographically defined surveys, little is known about their patterns of marriage preferences since partition of the Indian Subcontinent in 1947. This study seeks to determine the prevalence and patterns of consanguineous marriages contracted among Indian Muslims at regional and state levels during the last two generations. Data from the 1992/93 Indian National Family Health Survey (NFHS) were used in the analysis. The NFHS was a nationally-representative survey of ever-married women aged 13-49 years, conducted across 25 states of India. Of the initial 9845 respondents, 8436 were included in the final weighted analysis sample. Overall, 22.0% of marriages were found to be contracted between spouses related as second cousins or closer, ranging from 15.9% in the eastern states to 32.9% in the western states of India. In all parts of the country first cousin marriages were the preferred form of consanguineous union, and in four of the five regions paternal first cousin marriages predominated. Despite predictions to the contrary, there was no evidence of a significant change in the prevalence of consanguineous unions over the course of the study period, which extended from the late 1950s to the early 1990s.Consanguineous marriage is widely favoured in a large majority of the worlds Islamic populations. According to recent estimates, the resident Muslim population of India is over 100 million. However, apart from a few numerically small or geographically defined surveys, little is known about their patterns of marriage preferences since partition of the Indian Subcontinent in 1947. This study seeks to determine the prevalence and patterns of consanguineous marriages contracted among Indian Muslims at regional and state levels during the last two generations. Data from the 1992/93 Indian National Family Health Survey (NFHS) were used in the analysis. The NFHS was a nationally-representative survey of ever-married women aged 13-49 years, conducted across 25 states of India. Of the initial 9845 respondents, 8436 were included in the final weighted analysis sample. Overall, 22.0% of marriages were found to be contracted between spouses related as second cousins or closer, ranging from 15.9% in the eastern states to 32.9% in the western states of India. In all parts of the country first cousin marriages were the preferred form of consanguineous union, and in four of the five regions paternal first cousin marriages predominated. Despite predictions to the contrary, there was no evidence of a significant change in the prevalence of consanguineous unions over the course of the study period, which extended from the late 1950s to the early 1990s.

Does physician bias affect the quality of care they deliver? Evidence in the care of sexually transmitted infections

Background: Primary care providers are well placed to control the spread of sexually transmitted infections (STI); however, care is likely to be influenced by their attitudes and beliefs. The present study investigates the relationship between general practitioner’s (GP) self-reported level of comfort in dealing with patients with STI and the care they deliver. Methods: A postal survey was conducted using a stratified random sample of 15% of GPs practising in New South Wales, Australia, to assess practitioners’ management of STI. A total of 409 GPs participated in the study yielding a response rate of 45.4%. Results: Although over two-thirds (69–72%) of GPs were comfortable in managing STI in heterosexual or young patients, fewer than half (40–46%) felt comfortable caring for patients who were sex workers, indigenous, people who inject drugs, gay or lesbian. Practitioners who were comfortable were more likely to offer sexual risk assessment, safe-sex counselling, and were less likely to report limited ability to influence patients’ risk behaviours. Practitioner discomfort was positively associated with reporting constraints in sexual history-taking and the need for training in sexual health. Conclusions: Practitioners’ care and support for patients with STI are influenced by their inexperience, lack of skills and/or attitudes. The reasons for GP discomfort in managing STI patients need further exploration as does its impact on patient care.

Sociodemographic correlates of consanguineous marriage in the Muslim population of India

Using data derived from the 1992-1993 National Family Health Survey, the sociodemographic characteristics of consanguineous marriage were determined in the Muslim population of India. In this nationally representative sample of 8436 women, consanguineous marriages accounted for 22.0% of the total. No differences between the consanguineous and non-consanguineous groups were observed in terms of mean age at marriage or mean age at cohabitation. The study confirmed the negative association between consanguineous marriage and maternal education but also indicated that women in consanguineous unions were more likely to be employed, albeit mainly in agricultural work on behalf of the family. Consanguineous couples more frequently lived in smaller towns and in an extended family environment. Somewhat conflicting results were obtained with indicators of socioeconomic status, but the overall picture suggested that consanguineous households had greater access to consumer goods because of their larger number of co-resident persons.

Women's Perceptions and Experiences of Sexual Violence in Marital Relationships and Its Effect on Reproductive Health

In this article we explore womens perceptions and experiences of sexual violence in marital relationships and its effects on reproductive health. We conducted a qualitative study composed of key informant interviews, focus group discussions, and in-depth interviews in two low- to middle-income areas of Karachi, Pakistan. Results show sexual coercion and nonconsensual sex were common and not limited to abusive relationships. Difficulties in negotiating safe sex resulted in unwanted pregnancies, some leading to unsafe abortions. The women reported escalation of violence during pregnancy to be common. Social norms prevented disclosure of sexual violence leading to limited support or intervention or both. The link between womens social status, marital violence, and reproductive health is discussed.