Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack of high-certainty evidence and the inadequacy of accepted metrics to measure health status continues to present challenges in FRDA and other rare diseases. To overcome these challenges, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. This approach incorporates additional strategies to the GRADE framework to support the strength of recommendations, such as review of literature in similar conditions, the systematic collection of expert opinion and patient perceptions, and use of natural history data. METHODS: A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework. Invited expert authors generated the Patient, Intervention, Comparison, Outcome (PICO) questions to guide the literature search (2014 to June 2020). Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations contributed to the final recommendations. Authors also developed best practice statements for clinical care points that were considered self-evident or were not amenable to the GRADE process. RESULTS: Seventy clinical experts contributed to fifteen topic-specific chapters with clinical recommendations and/or best practice statements. New topics since 2014 include emergency medicine, digital and assistive technologies and a stand-alone section on mental health. Evidence was evaluated according to GRADE criteria and 130 new recommendations and 95 best practice statements were generated. DISCUSSION AND CONCLUSION: Evidence-based CMGs are required to ensure the best clinical care for people with FRDA. Adopting the GRADE rare-disease framework enabled the development of higher quality CMGs for FRDA and allows individual topics to be updated as new evidence emerges. While the primary goal of these guidelines is better outcomes for people living with FRDA, the process of developing the guidelines may also help inform the development of clinical guidelines in other rare diseases.

Coaching to support men in making informed choices about prostate cancer screening: A qualitative study.

OBJECTIVE: The objective of this study was to examine the perceptions of men, practice nurses (PNs) and general practitioners (GPs) on patient decision coaching for prostate cancer screening. METHODS: Seven focus groups were conducted with 47 participants, representing three stakeholder groups - men, GPs and PNs. All focus group discussions were conducted by the same facilitator and guided by a semi-structured interview schedule. Transcriptions were analysed by thematic analysis. RESULTS: Knowledge about the merits of prostate cancer screening was high amongst GPs, but limited with PNs and men. All groups saw the value in PN-led decision coaching for men considering screening for prostate cancer, but had reservations about its implementation in practice. Barriers to implementing a decision coaching system with PNs included staffing and cost of implementation. CONCLUSION: GPs, PNs and men identified benefits for the use of a PN-led decision coaching support intervention to assist men with making an informed choice about screening for prostate cancer. Stakeholders had reservations about how a PN-led intervention would effectively work in clinical practice. PRACTICE IMPLICATIONS: A feasibility study is required to examine barriers and enablers to implementing a PN-led decision coaching process for prostate cancer screening in the Australian primary healthcare setting.

Men's knowledge, attitudes and behaviours relating to fertility.

BACKGROUND: The increasingly common practice in high-income countries to delay childbearing to the fourth and fifth decades of life increases the risk of involuntary childlessness or having fewer children than desired. Older age also increases the risk of age-related infertility, the need for ART to conceive, and obstetric and neonatal complications. Existing research relating to childbearing focusses almost exclusively on women, and in public discourse declining fertility rates are often assumed to be the result of women delaying childbearing to pursue other life goals such as a career and travel. However, evidence suggests that the lack of a partner or a partner willing to commit to parenthood is the main reason for later childbearing. OBJECTIVE AND RATIONALE: To better understand men's contributions to childbearing decisions and outcomes, the literature pertaining to men's fertility-related knowledge, attitudes and behaviours was reviewed. SEARCH METHODS: The electronic databases of Medline, Embase and PsycINFO were searched to identify investigations of men's knowledge, attitudes and behaviours relating to fertility, infertility, reproductive health or childbearing using relevant fertility keyword search terms. Studies were included if they had investigated factors associated with men's fertility-related knowledge, attitudes and behaviours, had been conducted in a high-income country and were published in an English language peer-reviewed journal between January 2005 and August 2016. OUTCOMES: The search yielded 1349 citations. Of these, 47 papers representing 43 unique studies were included in the review. Where response rate was reported, it ranged between 13 and 94%. Studies varied in terms of research design; inclusion and exclusion criteria; recruitment strategies; adequacy of sample size; recruitment and retention rates and data collection tools. However, findings were consistent and indicate that men almost universally value parenthood, want and expect to become fathers, and aspire to have at least two children. Yet most men have inadequate knowledge about the limitations of female and male fertility and overestimate the chance of spontaneous and assisted conception. Perceptions of ideal circumstances in which to have children included being in a stable and loving relationship, having completed studies, secured a permanent job and a dependable income, having achieved personal maturity, and having a partner who desires children and is 'suitable' as a potential co-parent. Although all studies were conducted in high-income countries, between-country social and cultural differences may have influenced the findings relating to attitudes. WIDER IMPLICATIONS: Men aspire to parenthood as much as women do but have limited knowledge about the factors that influence fertility. The gap between ideal biological and ideal social age for having children appears to be widening, narrowing the time frame in which parenthood can be achieved. This may lead to unfulfilled parenthood aspirations. The findings can inform government policies and public education strategies aimed to support childbearing during the most fertile years, reduce the personal and societal cost of infertility and ART use, and allow people to fulfil their parenthood goals.

Engaging primary healthcare nurses in men's health education: A pilot study.

Many countries have identified a need for targeted men's health promotion within primary health care as part of broader men's health policy. Primary health care nurses are well placed to deliver such services but may lack the requisite skills. The aim of this study was to pilot the delivery phase of an education program and evaluate a train-the-trainer approach for delivering men's health education to primary health care nurses. The 8-h train-the-trainer workshop was designed to equip nurses to deliver men's health education workshops to peers. Surveys of facilitators (n = 18) and peer workshop participants (n = 98) evaluated their level of confidence in men's health and knowledge and skills in men's health promotion. After completing the train-the-trainer workshop, most facilitators expressed confidence (92%), and all indicated sufficient knowledge and access to resources to deliver a peer workshop. All agreed that the module was sufficiently flexible to suit their local setting. Following the peer education workshop, facilitators and workshop participants reported high levels of confidence and knowledge in men's health promotion. This pilot evaluation suggests train-the-trainer is an effective model to deliver men's health education across a range of settings, with a flexible approach to raising awareness and improving the skills of primary health care nurses in men's health promotion.

"Men's health--a little in the shadow": a formative evaluation of medical curriculum enhancement with men's health teaching and learning.

BACKGROUND: Enhancing a medical school curriculum with new men's health teaching and learning requires an understanding of the local capacity and the facilitators and barriers to implementing new content, and an approach that accommodates the systemic and cultural differences between medical schools. METHODS: A formative evaluation was undertaken to determine the perspectives of key informants (academics, curriculum developers) from four Australian medical schools about the strategies needed to enhance their curriculum with men's health teaching and learning. Through semi-structured questioning with 17 key informants, interviewees also described the contextual barriers and facilitators to incorporating new topic areas into existing curriculum. Interviews were recorded with consent, transcribed verbatim, and analysed by two researchers to identify key themes. RESULTS: Interviewees were enthusiastic about incorporating men's health content through a men's health curriculum framework but highlighted the need for systems to assist in identifying gaps in their current curriculum where the men's health topics could be integrated. The student experience was identified as a key driver for men's health teaching and learning. Furthermore, core men's health clinical outcomes needed to be defined and topic areas vertically integrated across the curricula. This would ensure that students were appropriately equipped with the skills and knowledge for subsequent clinical practice in a range of geographical settings. Interviewees consistently suggested that the best implementation strategy is to have someone 'on the ground' to work directly with medical school staff and champion the men's health discipline. Providing mechanisms for sharing knowledge and resources across medical schools was highlighted to facilitate implementation, particularly for those medical schools with limited men's health teaching resources. CONCLUSIONS: Despite the unanimous support for men's health teaching and learning, the evaluation highlighted that the student experience must be recognised as paramount when integrating new topic areas into an already packed curriculum. A community of practice, where medical schools share relevant resources and knowledge, could help to ensure a commonality of student experience with respect to men's health learning in medical schools across different geographical settings and with different levels of resourcing. Such an approach could also be adapted to other areas of curriculum enhancement.

Androgen deprivation therapy complications.

Androgen deprivation therapy (ADT) is increasingly used to treat advanced prostate cancer and is also utilised as adjuvant or neo-adjuvant treatment for high-risk disease. The resulting suppression of endogenous testosterone production has deleterious effects on quality of life, including hot flushes, reduced mood and cognition and diminished sexual function. Cross-sectional and longitudinal studies show that ADT has adverse bone and cardio-metabolic effects. The rate of bone loss is accelerated, increasing the risk of osteoporosis and subsequent fracture. Fat mass is increased and lean mass reduced, and adverse effects on lipid levels and insulin resistance are observed, the latter increasing the risk of developing type 2 diabetes. ADT also appears to increase the risk of incident cardiovascular events, although whether it increases cardiovascular mortality is not certain from the observational evidence published to date. Until high-quality evidence is available to guide management, it is reasonable to consider men undergoing ADT to be at a higher risk of psychosexual dysfunction, osteoporotic fracture, diabetes and cardiovascular disease, especially when treated for extended periods of time and therefore subjected to profound and prolonged hypoandrogenism. Health professionals caring for men undergoing treatment for prostate cancer should be aware of the potential risks of ADT and ensure appropriate monitoring and clinical management.

Healthy aging in a cross-sectional study of Australian men: what has sex got to do with it?

AIM: To identify lifestyle factors associated with healthy aging in middle-aged and older Australian men. METHODS: A cross-sectional, population-based, computer-assisted telephone interview study explored self-reported health outcomes, and associated determinants for general and reproductive health (the Men in Australia Telephone Survey) in men aged 40 years and older (n = 5990). "Good health" was defined by self-reported health (excellent/very good) combined with absence of self-reported high blood pressure, heart disease, stroke, diabetes and depression symptoms. Categories of sexual activity frequency in the previous four weeks ranged from zero to 12+ times. RESULTS: "Good health" declined with increasing age with 17% of men over 70 years reporting "good health". In multivariable logistic regression models, significant inverse associations were found between modifiable lifestyle factors - both underweight and overweight/obesity, physical inactivity, smoking and high alcohol consumption - and "good health". Low-risk alcohol intake and living with a partner were positively associated with "good health". Sexual activity was also positively associated with "good health" (p < 0.001) with elevated odds ratios (ORs) for each category of frequency of sexual activity (1-4, 5-8, 9-12 or 12+ times in the past 4 weeks) relative to zero frequency (ORs 1.68 to 2.16). CONCLUSION: This study suggests that sexual activity is an important correlate of retaining good health in middle- and older-aged men, independent of other behavioral determinants.

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.

Cystic fibrosis (CF) is the most common severe, autosomal recessive disease among Caucasians. A population-based CF carrier screening programme was implemented in Victoria, Australia, in 2006. Carrier screening for CF is currently only offered in the private health system. The aim of this study was to determine the attitudes and opinions of pregnant women in the public health system, towards screening for CF. Pregnant women were recruited in the antenatal clinics of two public hospitals, and invited to participate in the study. Results of this study were compared with previous studies where screening for CF carrier status was offered. Of the participants (n=158), the majority were aged 25-34 years old (66.1%) and were Caucasian (45.8%). Compared with those who were offered screening (reported in previous studies) participants in the current study were younger, had a lower level of education and a lower income. Knowledge was significantly lower in those who were not offered screening compared with those who were offered screening. The majority of participants believe CF carrier screening should be offered in the public health system (80.5%) and almost half would have liked to receive an offer of screening during their current pregnancy (49.7%). In order for the programme to be equitable, screening for CF carrier status needs to be offered in both the public and private health system and ideally should be at no cost to the user.

Male reproductive health disorders among Aboriginal and Torres Strait Islander men: a hidden problem?

OBJECTIVE: To better understand help-seeking behaviours and reproductive health disorders among Aboriginal and Torres Strait Islander men. DESIGN, SETTING AND PARTICIPANTS: A cross-sectional mixed-methods study conducted from 1 May 2004 to 30 April 2005 of 293 Aboriginal and Torres Strait Islander men aged 18 years and over from urban, rural and remote communities in the Northern Territory and Queensland. MAIN OUTCOME MEASURES: Subscale of the International Index of Erectile Function, self-reported help-seeking behaviours for erectile dysfunction (ED) and prostate disease, thematic analysis of semi-structured interviews and focus groups. RESULTS: The prevalence of moderate-to-severe ED increased across age groups, from about 10% in younger men (under 35 years) to 28% in men aged 55-74 years. Moderate-to-severe ED was strongly associated with reporting a chronic condition (odds ratio [OR], 3.67) and residing in a remote area (OR, 2.94). Aboriginal and Torres Strait Islander men aged 40-59 years showed similar low levels of help-seeking behaviours compared with non-Indigenous men from a comparable population-based study. About half of the men with ED saw a doctor or received treatment for ED in each population. While prostate cancer rates were low in both studies, testing for prostate problems was less frequent in Aboriginal and Torres Strait Islander men (11.4%) than in non-Indigenous men (34.1%, P < 0.001), despite similar levels of concern about prostate cancer. Barriers to help-seeking included shame, culturally inappropriate services and lack of awareness. CONCLUSION: This study, the first to investigate reproductive health of Aboriginal and Torres Strait Islander men, found low levels of help-seeking behaviours for reproductive health disorders, with implications for missing a predictor of chronic disease and late diagnosis of prostate disease.

Epigenetic changes in response to tai chi practice: a pilot investigation of DNA methylation marks.

Tai chi exercise has been shown to improve physiological and psychosocial functions, well-being, quality of life, and disease conditions. The biological mechanisms by which tai chi exerts its holistic effects remain unknown. We investigated whether tai chi practice results in positive epigenetic changes at the molecular level. Design. The DNA methylation profiles of sixty CpG-dinucleotide marks in female tai chi practitioners (N = 237; 45-88 years old) who have been practising tai chi for three or more years were compared with those of age-matched control females (N = 263) who have never practised tai chi. Results. Six CpG marks originating from three different chromosomes reveal a significant difference (P < 0.05) between the two cohorts. Four marks show losses while two marks show gains in DNA methylation with age in the controls. In the tai chi cohort all six marks demonstrate significant slowing (by 5-70%) of the age-related methylation losses or gains observed in the controls, suggesting that tai chi practice may be associated with measurable beneficial epigenetic changes. Conclusions. The results implicate the potential use of DNA methylation as an epigenetic biomarker to better understand the biological mechanisms and the health and therapeutic efficacies of tai chi.

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions. This study aimed to assess the acceptability and feasibility of genetic screening for preventable disease, using the model of hereditary haemochromatosis, in high-school students. Screening was offered for the HFE C282Y substitution to 17,638 students. Questionnaires were administered at the time of screening (Q1) and approximately 1 month after results were communicated (Q2). Outcomes assessed were uptake of screening, change in scores of validated anxiety, affect and health perception scales from Q1 to Q2, knowledge and iron indices in C282Y homozygous individuals. A total of 5757 (32.6%) students had screening and 28 C282Y-homozygous individuals (1 in 206) were identified, and none of the 27 individuals who had iron indices measures had significant iron overload. There was no significant change in measures of anxiety, affect or health perception in C282Y homozygous or non-homozygous individuals. Over 86% of students answered each of five knowledge questions correctly at Q1. Genetic population-based screening for a preventable disease can be offered in schools in a way that results in minimal morbidity for those identified at high risk of disease. The results of this study are not only relevant for haemochromatosis, but for other genetic markers of preventable disease such as those for cardiovascular disease and cancer.

The psychosocial impact of Klinefelter syndrome and factors influencing quality of life.

PURPOSE: There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact. This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes. METHODS: Men from across Australia, diagnosed with KS at different ages, were recruited through multiple sources. Participants completed a questionnaire assessing subjective well-being, body image, self-esteem, mental health, social support, and general health. RESULTS: Eighty-seven individuals self-completed the questionnaire. All outcomes were much poorer for the study population than for the general male population. Individuals diagnosed later in life reported many of the same symptoms as those diagnosed at younger ages. Employment status, social support, and phenotypic features were the strongest predictors of psychosocial outcomes. Age at diagnosis was not as influential because it did not correlate with phenotypic severity score. CONCLUSION: This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

We conducted a survey of physician opinions in relation to enzyme replacement therapy (ERT) and extended newborn screening (ENBS) for mucopolysaccharidoses (MPS). A questionnaire consisting of hypothetical clinical scenarios about ERT and ENBS for MPS was posted on metab-L, a list server for the metabolic community. The questionnaire included similar questions to those used in previous studies that sought the views of individuals and families affected by MPS. Our aim was to compare medical professionals' opinions with that of the individuals and families affected by MPS that they serve. The questionnaire was completed by 35 physicians, most of whom were metabolic physicians. Responses differed significantly between the physician and parent groups when the clinical scenario involved intellectual impairment. In this setting, physicians were significantly less inclined to advocate the use of ERT. Comparison of the responses to the ENBS scenarios revealed that compared to physicians, family of individuals with MPS were more inclined to desire diagnosis at birth, even if no treatment could alter the outcome of the condition. Compared to the family of individuals with MPS, physicians are more likely to advocate the use of ERT and ENBS where there is proven medical benefit to the affected individual.

Shorter telomere length in peripheral blood cells associated with migraine in women.

OBJECTIVE: To evaluate relative telomere length of female migraine patients. BACKGROUND: Migraine is a debilitating disorder affecting 6-28% of the population. Studies on the mechanisms of migraine have demonstrated genetic causes but the pathophysiology and subcellular effects of the disease remain poorly understood. Shortened telomere length is associated with age-related or chronic diseases, and induced stresses. Migraine attacks may impart significant stress on cellular function, thus this study investigates a correlation between shortening of telomeres and migraine. METHODS: Relative telomere length was measured using a previously described quantitative polymerase chain reaction method. A regression analysis was performed to assess differences in mean relative telomere length between migraine patients and healthy controls. RESULTS: The leukocyte telomeres of a cohort of 142 Caucasian female migraine subjects aged 18-77 years and 143 matched 17-77-year-old healthy control Caucasian women were examined. A significantly shorter relative telomere length was observed in the migraine group compared with the control group after adjusting for age and body mass index (P = .001). In addition, age of onset was observed to associate with the loss of relative telomere length, especially at early age of onset (<17 years old). No association was observed between relative telomere length and the severity and frequency of migraine attacks and the duration of migraine. CONCLUSION: Telomeres are shorter in migraine patients and there is more variation in telomere length in migraine patients.

A retrospective study of the impact of lifestyle on age at onset of Huntington disease.

In transgenic mouse models of Huntington disease (HD) environmental enrichment significantly delays disease onset. A questionnaire-based survey of 154 adults with diagnosed HD (mean 4.2 years postdiagnosis) and a known IT15 CAG repeat length, explored whether premorbid lifestyle may relate to age-at-onset (AO). Participants were drawn from HD outpatient clinics in Australia and New Zealand. Premorbid physical, intellectual, and passive activity levels were used to generate scores in the categories of leisure, nonleisure (education, occupation and domestic duties) and total lifestyle. AO was associated with increased CAG repeat length as expected (r = -0.72, P < 0.001), but also with a lifestyle that included higher levels of passive activity (r = -0.38, P < 0.001). Multiple linear regression modeling showed lifestyle passivity to be a variable independent of CAG repeat length in predicting AO (R(2) = 0.54, b = -0.22, P = 0.005). Comparison of the mean AO across tertiles of lifestyle passivity scores showed onset 4.6 years (95% CI = 1.3-7.9) later in the least compared with the most passive tertile. CAG repeat length was also shown to predict lifestyle passivity (R(2) = 0.12, b = 1.08, P < 0.0005). Neither intellectual nor physical activity showed significant relationships to AO or CAG repeat length in this cohort. Our study leads to two conclusions: that a passive lifestyle may be a preclinical expression of HD, and that it actually contributes to the earlier onset of symptoms. Overcoming the tendency to be passive may substantially delay onset of HD. (c) 2010 Movement Disorder Society.

Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome.

OBJECTIVES: To map prenatal screening and diagnostic testing pathways in Victorian pregnant women during 2003 to 2004; measure the impact of prenatal diagnostic testing uptake on the effectiveness of prenatal screening for Down syndrome; and assess factors influencing uptake of diagnostic testing following screening. METHODS: State-wide data collections of prenatal screening and diagnostic tests were linked to all Victorian births and pregnancy terminations for birth defects. RESULTS: Overall, 52% of women had a prenatal test (65 692/126 305); screening (44.9%), diagnostic testing (3.9%), or both (3.2%). Uptake of diagnostic testing was 71.4% (2390/3349) after an increased risk screen result, and 2.5% (1381/54 286) after a low risk result. Variation in uptake of diagnostic testing reduced the effectiveness of the screening program by 11.2%: from 87.4% (sensitivity - 125/143) to 76.2% (prenatal diagnoses of Down syndrome - 109/143). In both the increased and low risk groups, uptake was influenced by absolute numerical risk, as well as by the change in numerical risk from a priori risk. CONCLUSIONS: This comprehensive follow-up demonstrates clearly that numerical risk is being used to aid in decision making about confirmatory diagnostic testing. Collectively, these fundamental individual decisions will impact on the overall effectiveness of screening programmes for Down syndrome.

"It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women.

Population carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to non-pregnant women. A qualitative approach was used to gain an in-depth understanding of women's experiences and examine their decision-making processes, including women who were tested and those who decided not to be tested. The decision-making process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision-making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non-pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions.

Utilization of genetic counseling after diagnosis of a birth defect--trends over time and variables associated with utilization.

PURPOSE: To examine utilization of genetic counseling after diagnosis of a birth defect in 2004, and trends in utilization from 1991 to 2004. METHODS: Birth defects data for births in 2004 were linked to genetic counseling data to determine utilization of genetic counseling in Victoria, Australia. Variability in utilization was determined according to the need for genetic counseling (as indicated by the particular birth defect), and demographic and perinatal variables. Trends in utilization were determined by comparing 2004 data with that of earlier studies using the same data sources for birth defects cohorts in 1991, 1993, and 1995. RESULTS: Frequency of overall utilization was 20% and was not affected by maternal country of birth, socioeconomic advantage/disadvantage, or region of residence. Higher-than-average utilization was strongly predicted by "high-need" (48.4%), infant death (stillbirth 50%, postnatal death 50.4%), or birth in a tertiary level hospital (28.5%). There was an upward trend in the proportion of the high-need group using genetic counseling, progressively increasing from 39.7% in the 1991 cohort to 42.5% in the 1993 cohort, 46.5% in the 1995 cohort, to a high of 48.4% in the 2004 cohort. CONCLUSIONS: Utilization by those who most need it has gradually increased from 1991 to 2004, with no inequity of access apparent in the most recent cohort. Further studies are needed to determine whether high-need families not using genetic counseling are not doing so because of chance or choice.

Going down a different road: first support and information needs of families with a baby with Down syndrome.

OBJECTIVE: To explore the experiences of families with a baby with Down syndrome at the time of diagnosis, and their preferences for information and support in the early period after diagnosis. DESIGN, SETTING AND PARTICIPANTS: A qualitative, interview-based study of 18 families living in Victoria with a child with Down syndrome born between 2002 and 2004 who had not been diagnosed with the syndrome before birth. Interviews were transcribed verbatim and interpretive content analysis was undertaken. RESULTS: Parental coping with the unexpected diagnosis of Down syndrome in their infant was influenced by the time interval between birth and disclosure of clinical suspicion of Down syndrome, the level of certainty of the attending physician at the time of disclosure, and the time interval between disclosure of clinical suspicion and confirmation of karyotype. Initial uncertainty and a delay in the diagnosis were detrimental to parental coping, as was premature communication of the news. Perinatal complications increased parental anxiety regarding their child's condition and future. Individual communication style of midwives and physicians was a powerful predictor of parental adaptation. Parental needs for support and information were facilitated through normalising postnatal care, ensuring privacy, and providing early access to peer support and up-to-date written information. Many parents would have appreciated access to a liaison worker. CONCLUSION: The experiences of parents in this study provide practice points for improving postnatal care with minimal changes to formal service systems.