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The handshake is a common greeting, parting gesture or deal sealer across the globe. Its origins may go back to pre-history, ancestorial primates using similar gestures. The handshake is cultural norm, most commonly shared between adults, which children learn as they grow up. There are many important aspects to the handshake that can promote the clinician-patient relationship, but how clinicians caring for children should use the handshake has not received attention. This paper explores the origins of the handshake and its closely allied gesture, the high-five, and considers how they can work to promote the care of children.

BACKGROUND: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening. METHODS: Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period. RESULTS: There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made >100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study. CONCLUSION: This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive g

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Background/aim To determine willingness to pay for children's spectacles, and barriers to purchasing children's spectacles in Cambodia. Methods We conducted vision screenings, and eye examinations as indicated, for all consenting children at 21 randomly selected secondary schools. We invited parents/guardians of children found to have refractive problems to complete a willingness to pay for spectacles survey, using a binary-with-follow-up technique. Results We conducted vision screenings on 12 128 secondary schoolchildren, and willingness to pay for spectacles surveys with 491 parents/guardians (n=491) from Kandal and Phnom Penh provinces in Cambodia. We found 519 children with refractive error, 7 who had pre-existing spectacles and 14 recommended spectacles for lower ametropias. About half (53.2%; 95% CI 44.0% to 62.1%) of parents/guardians were willing to pay KHR70 000 (US17.5; average market price) or more for spectacles. Mean willingness-to-pay price was KHR74 595 (US18.6; 95% CI KHR64 505 to 86 262; 95% CI US16.1 to US21.6) in Phnom Penh and KHR55 651 (US13.9; 95% CI KHR48 021 to 64 494; 95% CI US12.0 to US16.1) in Kandal province. Logistic regression suggested parents/guardians with college education (OR 6.8; p<0.001), higher household incomes (OR 8.0; p=0.006) and those wearing spectacles (OR 2.2; p=0.01) were more likely to be willing to pay ≥US17.5. The most common reasons for being unwilling to pay US17.5 were related to cost (58.8%). The most common barrier to spectacle wear was fear that spectacles weaken children's eyes (36.0%). Conclusions With almost half of parents/guardians unwilling to pay for spectacles at the current average market price, financial support through a subsidised spectacle scheme might be required for children to access spectacles in Cambodia.

BACKGROUND/AIM: To determine willingness to pay for children's spectacles, and barriers to purchasing children's spectacles in Cambodia. METHODS: We conducted vision screenings, and eye examinations as indicated, for all consenting children at 21 randomly selected secondary schools. We invited parents/guardians of children found to have refractive problems to complete a willingness to pay for spectacles survey, using a binary-with-follow-up technique. RESULTS: We conducted vision screenings on 12 128 secondary schoolchildren, and willingness to pay for spectacles surveys with 491 parents/guardians (n=491) from Kandal and Phnom Penh provinces in Cambodia. We found 519 children with refractive error, 7 who had pre-existing spectacles and 14 recommended spectacles for lower ametropias. About half (53.2%; 95% CI 44.0% to 62.1%) of parents/guardians were willing to pay KHR70 000 (US$17.5; average market price) or more for spectacles. Mean willingness-to-pay price was KHR74 595 (US$18.6; 95% CI KHR64 505 to 86 262; 95% CI US$16.1 to US$21.6) in Phnom Penh and KHR55 651 (US$13.9; 95% CI KHR48 021 to 64 494; 95% CI US$12.0 to US$16.1) in Kandal province. Logistic regression suggested parents/guardians with college education (OR 6.8; p<0.001), higher household incomes (OR 8.0; p=0.006) and those wearing spectacles (OR 2.2; p=0.01) were more likely to be willing to pay ≥US$17.5. The most common reasons for being unwilling to pay US$17.5 were related to cost (58.8%). The most common barrier to spectacle wear was fear that spectacles weaken children's eyes (36.0%). CONCLUSIONS: With almost half of parents/guardians unwilling to pay for spectacles at the current average market price, financial support through a subsidised spectacle scheme might be required for children to access spectacles in Cambodia.

Miracles, like London buses, just seem to come along. The truth is, there are no miracles, just lots of hard work behind the scenes, minds open to opportunity, serendipity, and possibly a little luck. In my time as a pediatric respiratory physician, I have borne witness to remarkable advances in treatment that have changed patients' fortunes overnight. Examples of these include artificial surfactant replacement for premature newborns, conjugate Haemophilus influenzae type b vaccination, propranolol for infants with subglottic haemangiomas, mandibular distraction for babies with micrognathia, cystic fibrosis transmembrane conductance regulator modulators therapy for patients with cystic fibrosis, and antisense oligonucleotide therapy for infants with spinal muscular atrophy. There are lessons to be learned from reflection upon these life-transforming treatments, and perhaps it is a good time just to pause and wonder.

Technological advances in mechanical ventilation have made home care possible for children requiring long-term ventilation. However, there are ethical and logistical challenges to transitioning home. The aim of this narrative review is to identify the experiences of the children and their families and the decision-making process to embark on home mechanical ventilation. A systematic review of the literature using Medline and OVID databases was conducted. Children <18 years requiring non-invasive ventilation or tracheostomy with ventilation or continuous positive pressure ventilation were included. The initial search yielded 1351 results, 1017 after duplications were removed and 111 after abstracts were reviewed. After applying inclusion and exclusion criteria to full text analysis, 48 references were analysed. The children and families described home ventilation as facilitating better health and functional status. However, they concurrently described social isolation, stigma, financial stress and loss of independence. The decision-making process to embark on home ventilation needs more research.

Relief of suffering is an important goal of medicine and aligns with the professional maxim of 'do no harm' and the bioethical principle of non-maleficence. Capturing what individuals experience or third-parties sense in terms of suffering is difficult, made harder in the patient who is too young or not able to tell us. This paper builds on the thoughts and experience of Isaacs and Preisz who open a discussion on suffering at the end of life. The discussion is extended by Tobin who recommends the use of goals of care to try to align clinician and parent expectations of what suffering might mean at the end of life. A further paper by Brancatisano makes a comment that family resource and parental suffering might inappropriately guide parental decision-making at the end of life in cases where suffering is apparent. In my piece, I add my concerns that physicians can write their own narrative about suffering which can compete against the parent's view. Furthermore, suffering can be used as a weapon for physicians to pressure parents towards the medical view.

Children's fear of a procedure, including the anesthetic, is a common issue that operating theatre staff face. This fear is generally mitigated by preesthetic preparation and information sharing. Last-minute refusal of a procedure creates unique difficulties for the anesthetist and proceduralist. Refusal for a procedure raises issues of whether the dissent is binding, and if not, how best to get the child to theatre without creating moral injury. In this case review of a young adolescent who refuses to go to the operating theatre, we explore practical and ethical options to resolve the situation. We discuss respect for persons (including assent and consent), best interests, truth-telling, harm minimization, and restraint. The importance of a postevent debrief is discussed. We also assess the value of a clinical ethics service with team members embedded in clinical teams.

Chronic neonatal lung disease (CNLD) is defined as continued need for any form of respiratory support (supplemental oxygen and/or assisted ventilation) beyond 36 weeks PMA. Low-flow supplemental oxygen facilitates discharge from hospital of infants with CNLD who are hypoxic in air and is widely used despite lack of evidence on the most appropriate minimum mean target oxygen saturations. Furthermore, there are minimal data to guide the home monitoring, titration or weaning of supplemental oxygen in these infants. The purpose of this position statement is to provide a guide for the respiratory management of infants with CNLD, with special emphasis on role and logistics of supplemental oxygen therapy beyond the NICU stay. Reflecting a variety of clinical practices and infant comorbidities (presence of pulmonary hypertension, retinopathy of prematurity and adequacy of growth), it is recommended that the minimum mean target range for SpO2 during overnight oximetry to be 93-95% with less than 5% of total recording time to be below 90% SpO2. Safety of short-term disconnection from supplemental oxygen should be assessed before discharge, with majority of infants with CNLD not ready for discharge until supplemental oxygen requirement is <=0.5 L/min. Sleep-time assessment of oxygenation with continuous overnight oximetry is recommended when weaning supplemental oxygen. Palivizumab is considered safe and effective for the reduction of hospital admissions with RSV infection in this group. This statement would be useful for paediatricians, neonatologists, respiratory and sleep physicians and general practitioners managing children with CNLD.Copyright © 2020 The Authors. Respirology published by John Wiley & Sons Australia, Ltd on behalf of Asian Pacific Society of Respirology.

Chronic neonatal lung disease (CNLD) is defined as continued need for any form of respiratory support (supplemental oxygen and/or assisted ventilation) beyond 36 weeks PMA. Low-flow supplemental oxygen facilitates discharge from hospital of infants with CNLD who are hypoxic in air and is widely used despite lack of evidence on the most appropriate minimum mean target oxygen saturations. Furthermore, there are minimal data to guide the home monitoring, titration or weaning of supplemental oxygen in these infants. The purpose of this position statement is to provide a guide for the respiratory management of infants with CNLD, with special emphasis on role and logistics of supplemental oxygen therapy beyond the NICU stay. Reflecting a variety of clinical practices and infant comorbidities (presence of pulmonary hypertension, retinopathy of prematurity and adequacy of growth), it is recommended that the minimum mean target range for SpO2 during overnight oximetry to be 93-95% with less than 5% of total recording time to be below 90% SpO2. Safety of short-term disconnection from supplemental oxygen should be assessed before discharge, with majority of infants with CNLD not ready for discharge until supplemental oxygen requirement is <=0.5 L/min. Sleep-time assessment of oxygenation with continuous overnight oximetry is recommended when weaning supplemental oxygen. Palivizumab is considered safe and effective for the reduction of hospital admissions with RSV infection in this group. This statement would be useful for paediatricians, neonatologists, respiratory and sleep physicians and general practitioners managing children with CNLD.Copyright © 2020 The Authors. Respirology published by John Wiley & Sons Australia, Ltd on behalf of Asian Pacific Society of Respirology.

Chronic neonatal lung disease (CNLD) is defined as continued need for any form of respiratory support (supplemental oxygen and/or assisted ventilation) beyond 36 weeks PMA. Low-flow supplemental oxygen facilitates discharge from hospital of infants with CNLD who are hypoxic in air and is widely used despite lack of evidence on the most appropriate minimum mean target oxygen saturations. Furthermore, there are minimal data to guide the home monitoring, titration or weaning of supplemental oxygen in these infants. The purpose of this position statement is to provide a guide for the respiratory management of infants with CNLD, with special emphasis on role and logistics of supplemental oxygen therapy beyond the NICU stay. Reflecting a variety of clinical practices and infant comorbidities (presence of pulmonary hypertension, retinopathy of prematurity and adequacy of growth), it is recommended that the minimum mean target range for SpO2 during overnight oximetry to be 93-95% with less than 5% of total recording time to be below 90% SpO2 . Safety of short-term disconnection from supplemental oxygen should be assessed before discharge, with majority of infants with CNLD not ready for discharge until supplemental oxygen requirement is ≤0.5 L/min. Sleep-time assessment of oxygenation with continuous overnight oximetry is recommended when weaning supplemental oxygen. Palivizumab is considered safe and effective for the reduction of hospital admissions with RSV infection in this group. This statement would be useful for paediatricians, neonatologists, respiratory and sleep physicians and general practitioners managing children with CNLD.

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.

The treatment of Mycobacterium abscessus complex (MABSC) pulmonary infections is an emerging challenge in patients with cystic fibrosis (CF). Multidrug therapy for prolonged durations is required and carries the significant burden of drug-related toxicity, cost and selective pressure for multiresistant bacteria. International guidelines acknowledge that clinical and in vitro data to support treatment regimens are limited, particularly in children. As part of a collaboration between the infectious diseases and respiratory units at our institution, we have developed a modified treatment guideline that aims to balance the aims of MABSC eradication and slowing disease progression with minimising drug toxicity and resistance. The outcomes of this treatment approach will be monitored and reported. In this manuscript, we discuss the available evidence for treatment choices and present our treatment guideline for paediatric patients with CF and MABSC infection.

Our culture has a rich history of fairy tales, folklore and literature. These have all served a purpose, often to entertain, but also to moralise. Authors have often included interesting characters with identifiable medical conditions or described interesting characters that lend their names to conditions we can identify today. This paper looks at the medical conditions found in fairy tales, folklore and literature.

INTRODUCTION: In this cohort study spanning an 18-year period, we evaluated the prevalence and associated mortality rate of epidemic strains of pseudomonas aeruginosa (PsA), especially Australian Epidemic Strain Type 1 (AES1), in a pediatric cystic fibrosis center practicing cohort segregation and early PsA eradication. METHODS: Cohort segregation was introduced in January 2000. PsA clonal strain was determined by pulse-field-gel-electrophoresis (PFGE) at the time of routine collection of airway specimens. Children with PsA underwent eradication treatment with anti-pseudomonal antibiotics over 2-3 months. We analyzed changes in prevalence and mortality from 1999 to 2016. RESULTS: The prevalence of AES1 declined from 69 (20%) in 1999 to 16 (5.4%) in 2006, to 1 (0.4%) in 2016. The prevalence of PsA overall diminished less over the same period, from 128 (37%) patients in 1999 to 57 (23%) in 2016. New acquisition of AES1 became less common over time, with no new cases identified from 2011. Those who contracted AES1 had a greater risk of death than those who did not (Odds Ratio 4.9, 95%CI 2.5-9.6). Patients with other AES PsA types were uncommon (AES2 n = 5, AES5 n = 2, AES14 n = 3, AES19 n = 1). CONCLUSIONS: Cohort segregation was associated with reduction in AES1 prevalence ascertained by PFGE surveillance for patients in a single large pediatric cystic fibrosis center. Other alterations in practice such as early eradication treatment may also have contributed to reduced PsA prevalence. These factors combined with the transition of chronically infected patients over time to adult centers has eliminated AES1 from our clinic, with an accompanying mortality decrease.

Meat pies have been adopted as one of Australia's favourite foods, and considered an icon by many. The hand-held convenience of the pie has made them a culinary necessity while watching sport, also beloved in Australia. An enduring question about the meat pie is what exactly is inside. This can be difficult to ascertain by digital, ocular or oral exploration. In this study we use MR imaging to study the contents of some of Australia's best loved pies.

A suite of science instruments is critical to any high contrast imaging facility, as it defines the science capabilities and observing modes available. SCExAO uses a modular approach which allows for state-of-the-art visitor modules to be tested within an observatory environment on an 8-m class telescope. This allows for rapid prototyping of new and innovative imaging techniques that otherwise take much longer in traditional instrument design. With the aim of maturing science modules for an advanced high contrast imager on an giant segmented mirror telescopes (GSMTs) that will be capable of imaging terrestrial planets, we offer an overview and status update on the various science modules currently under test within the SCExAO instrument., Comment: 11 pages, 3 figures, AO4ELTs4 conference

A suite of science instruments is critical to any high contrast imaging facility, as it defines the science capabilities and observing modes available. SCExAO uses a modular approach which allows for state-of-the-art visitor modules to be tested within an observatory environment on an 8-m class telescope. This allows for rapid prototyping of new and innovative imaging techniques that otherwise take much longer in traditional instrument design. With the aim of maturing science modules for an advanced high contrast imager on an giant segmented mirror telescopes (GSMTs) that will be capable of imaging terrestrial planets, we offer an overview and status update on the various science modules currently under test within the SCExAO instrument., Comment: 11 pages, 3 figures, AO4ELTs4 conference

There have been dramatic changes in the care of children with cystic fibrosis (CF) from 1965 to 2015. The initial improvements were the result of incremental gains in medical knowledge and better use of available therapies. Some CF-specific drugs were developed (recombinant human DNase and purified tobramycin for inhalation), but these simply delayed the progression of the lung damage. The discovery of the CF transmembrane conductance regulator gene in 1989 created an explosion of knowledge of airway biology and CF pathophysiology. Now mutation-specific therapy to potentiate mutated CF transmembrane conductance regulator is available for some patients with CF and is transforming their lives. Further advances are eagerly anticipated to benefit all patients with CF.

Objective: Early childhood psychosocial experiences determine future health and health-care use. Identifying psychosocial predictors in cystic fibrosis may inform intervention strategies that can reduce health-care utilization. Design: The study was designed as a prospective cohort study. Setting: The study was set in the only cystic fibrosis clinic in Western Australia. Patients: The patients were children up to 6 years diagnosed with cystic fibrosis in Western Australia between 2005 and 2011. Main outcome measures: Psychosocial data collected for each year of life were compared with Australian population data and analysed as predictors of annual hospital, emergency and outpatient visits. Results: Compared with the Australian population, cystic fibrosis families demonstrated lower socio-economic status and labour supply (P < 0.001), increased residential mobility (P < 0.001) and trends towards increased rates of parental separation (P = 0.066). Marital discord and maternal and child psychological stress significantly predicted increased hospital admissions, emergency and outpatient visits. Conclusions: Social gradients may exist for families of young children with cystic fibrosis in Western Australia with potential implications for child health. Family psychological and relationship stress predicted increased child cystic fibrosis-related health-care use.

© 2015 John Wiley & Sons Ltd. Aims: To investigate the causal associations between family relationships, family functioning, social circumstances and health outcomes in young children with cystic fibrosis. Background: The anticipated health gains for patients with cystic fibrosis, promised by early diagnosis through newborn screening, have yet to be fully realized, despite advances in cystic fibrosis health care with aggressive management in multidisciplinary clinics and the development of specific medications. Adverse psychosocial functioning may underpin the current lack of progress as it is well recognized that compromised early parent-child attachment relationship experiences and adverse social circumstances have negative impacts on lifelong health status and health resource use, even in healthy children. Design: A cross-sectional (initial) and longitudinal (progressive), multicentre study of children aged 3 months-6 years with cystic fibrosis, who have been diagnosed by newborn screening. Methods: Questionnaire and observational measures of parent psychosocial functioning, parenting and parent-child attachment and social markers; and including clinical outcomes of regular health surveillance with clinical, lung imaging (computerized tomography) and bronchoalveolar lavage for airway microbiology and inflammation. Conclusion: This will be the first study to investigate the causal effect of psychosocial functioning, parenting and attachment on physical health outcome measures in children with cystic fibrosis.

The objective of this study was to assess attitudes and opinions of women declining the offer of cystic fibrosis (CF) carrier screening through a population-based programme in Victoria, Australia. Between December 2009 and May 2011, women declining an offer of CF carrier screening were invited to participate in a questionnaire-based study. Recruitment was at two private obstetric ultrasound clinics and two private obstetric practices in Melbourne. Of the participants (n=54), the majority were well educated (76%), aged 30-34 years (54%), with a household income of >AUD$100,000 (76%). Compared to those who accepted screening (reported in a previous study) (Ioannou et al., Public Health Genomics 13:449-56, 2010), knowledge levels were significantly lower in participants declining screening (t=3.32, p<0.01). The main reasons for declining screening were having no family history of CF (58%) and not considering a termination of pregnancy for CF (53%). Providers and consumers should be informed that most children born with autosomal-recessive conditions such as CF have no family history of the condition. © 2013 Springer-Verlag.

The objective of this study was to assess attitudes and opinions of women declining the offer of cystic fibrosis (CF) carrier screening through a population-based programme in Victoria, Australia. Between December 2009 and May 2011, women declining an offer of CF carrier screening were invited to participate in a questionnaire-based study. Recruitment was at two private obstetric ultrasound clinics and two private obstetric practices in Melbourne. Of the participants (n=54), the majority were well educated (76%), aged 30-34 years (54%), with a household income of >AUD$100,000 (76%). Compared to those who accepted screening (reported in a previous study) (Ioannou et al., Public Health Genomics 13:449-56, 2010), knowledge levels were significantly lower in participants declining screening (t=3.32, p<0.01). The main reasons for declining screening were having no family history of CF (58%) and not considering a termination of pregnancy for CF (53%). Providers and consumers should be informed that most children born with autosomal-recessive conditions such as CF have no family history of the condition. © 2013 Springer-Verlag.

BACKGROUND: In children with cystic fibrosis (CF) sleep, eating/mealtime, physiotherapy adherence and internalising problems are common. Caregivers also often report elevated depression, anxiety and stress symptoms. PURPOSE: To identify, through principal components analysis (PCA), coping strategies used by Australian caregivers of children with CF and to assess the relationship between the derived coping components, caregiver mental health symptoms and child treatment related and non-treatment related problem behaviours. METHOD: One hundred and two caregivers of children aged 3 to 8 years from three CF clinic sites in Australia, completed self-report questionnaires about their coping and mental health and reported on their child's sleep, eating/mealtime, treatment adherence and internalising and externalising behaviours. RESULTS: Two caregiver coping components were derived from the PCA: labelled 'proactive' and 'avoidant' coping. 'Avoidant' coping correlated moderately with caregiver depression (0.52), anxiety (0.57) and stress (0.55). For each unit increase in caregiver use of avoidant coping strategies, the odds of frequent child eating/mealtime behaviour problems increased by 1.3 (adjusted 95 % CI 1.0 to 1.6, p = .03) as did the odds of children experiencing borderline/clinical internalising behaviour problems (adjusted 95 % CI 1.1 to 1.7, p = .01). Proactive coping strategies were not associated with reduced odds of any child problem behaviours. CONCLUSIONS: Avoidant coping strategies correlated with caregiver mental health and child problem behaviours. Intervening with caregiver coping may be a way to improve both caregiver mental health and child problem behaviours in pre-school and early school age children with CF.

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to populationbased screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed withCF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.

Although the disproportionate toll of HIV/AIDS among Black heterosexuals, particularly in low-income U.S. urban areas is well documented, Black heterosexual men are rarely the explicit focus of HIV prevention messages, research, and interventions. We conducted 4 focus groups with 28 Black men, aged 19 to 51 years, who were enrolled in the workforce and fatherhood development program of a local community-based organization to examine (a) the priority and role of HIV/AIDS in their lives and (b) their HIV prevention needs. Although none articulated HIV as a top life priority, respondents nonetheless prioritized educating their children about HIV prevention and protecting their main partners from HIV if they had other sexual partners. Analyses demonstrated that participants said they wanted and needed: to learn how to talk to partners about HIV testing and use condoms when tempted not to do so, and more discussion-oriented educational opportunities to learn and exchange prevention strategies.

Objectives: Cystic fibrosis (CF) is an inherited disease that requires more intensive treatments as the disease progresses. Recent medical advancements have improved survival but have also increased costs. Our lack of understanding on the relationship between disease severity and lifetime health care costs is a major impediment to the timely economic assessment of new treatments. Methods: Using data from three waves of the Australian Cystic Fibrosis Australia Data Registry, we estimate the annual costs of CF care by age and health state. We define health states on the basis of annual lung-function scores and patient's organ transplant status. We exploit the longitudinal nature of the data to model disease progression, and we use this to estimate lifetime health care costs. Results: The mean annual health care cost for treating CF is US $15,571. Costs for patients with mild, moderate, and severe disease are US $10,151, US $25,647, and US $33,691, respectively. Lifetime health care costs are approximately US $306,332 (3.5% discount rate). The majority of costs are accounted for by hospital inpatients (58%), followed by pharmaceuticals (29%), medical services (10%), complications (2%), and diagnostic tests (1%). Conclusions: Our study is the first of its kind using the Australian Cystic Fibrosis Data Registry, and demonstrates the utility of longitudinal registry data for the purpose of economic analysis. Our results can be used as an input to future economic evaluations by providing analysts with a better understanding of the long-term cost impact when new treatments are developed. © 2013 International Society for Pharmacoeconomics and Outcomes Research (ISPOR).

Objectives: Cystic fibrosis (CF) is an inherited disease that requires more intensive treatments as the disease progresses. Recent medical advancements have improved survival but have also increased costs. Our lack of understanding on the relationship between disease severity and lifetime health care costs is a major impediment to the timely economic assessment of new treatments. Methods: Using data from three waves of the Australian Cystic Fibrosis Australia Data Registry, we estimate the annual costs of CF care by age and health state. We define health states on the basis of annual lung-function scores and patient's organ transplant status. We exploit the longitudinal nature of the data to model disease progression, and we use this to estimate lifetime health care costs. Results: The mean annual health care cost for treating CF is US $15,571. Costs for patients with mild, moderate, and severe disease are US $10,151, US $25,647, and US $33,691, respectively. Lifetime health care costs are approximately US $306,332 (3.5% discount rate). The majority of costs are accounted for by hospital inpatients (58%), followed by pharmaceuticals (29%), medical services (10%), complications (2%), and diagnostic tests (1%). Conclusions: Our study is the first of its kind using the Australian Cystic Fibrosis Data Registry, and demonstrates the utility of longitudinal registry data for the purpose of economic analysis. Our results can be used as an input to future economic evaluations by providing analysts with a better understanding of the long-term cost impact when new treatments are developed. © 2013 International Society for Pharmacoeconomics and Outcomes Research (ISPOR).

Objectives: Cystic fibrosis (CF) is an inherited disease that requires more intensive treatments as the disease progresses. Recent medical advancements have improved survival but have also increased costs. Our lack of understanding on the relationship between disease severity and lifetime health care costs is a major impediment to the timely economic assessment of new treatments.Methods: Using data from three waves of the Australian Cystic Fibrosis Australia Data Registry, we estimate the annual costs of CF care by age and health state. We define health states on the basis of annual lung-function scores and patient’s organ transplant status. We exploit the longitudinal nature of the data to model disease progression, and we use this to estimate lifetime health care costs.Results: The mean annual health care cost for treating CF is US$15,571. Costs for patients with mild, moderate, and severe disease are US$10,151, US$25,647, and US$33,691, respectively. Lifetime health care costs are approximately US$306,332 (3.5% discount rate). The majority of costs are accounted for by hospital inpatients (58%), followed by pharmaceuticals (29%), medical services (10%), complications (2%), and diagnostic tests (1%).Conclusions: Our study is the first of its kind using the Australian Cystic Fibrosis Data Registry, and demonstrates the utility of longitudinal registry data for the purpose of economic analysis. Our results can be used as an input to future economic evaluations by providing analysts with a better understanding of the long-term cost impact when new treatments are developed.

Background: Accurate measurement of sweat chloride concentration is essential for the diagnosis of cystic fibrosis (CF). We surveyed all laboratories enrolled in the Royal College of Pathologists of Australasia Quality Assurance Program (QAP) for Sweat Electrolytes to determine how closely they comply with the Australian Guidelines for the performance of the sweat test for the diagnosis of CF. Method(s): A detailed questionnaire covering most aspects of sweat collection and analysis was sent to all participating laboratories in 2007. Result(s): Twenty out of 38 laboratories completed the questionnaire. While adherence to accepted guidelines was noted in many areas, the following main variations were recorded: some laboratories were not doing enough sweat tests to maintain expertise; some were not collecting sweat for the recommended collection time; sweat conductivity was the only test available in some laboratories; there was a lack of agreement between the sweat chloride concentration used to indicate CF or define an equivocal result. Conclusion(s): There is room for improvement in the performance of the sweat test in some laboratories in Australasia. The Sweat Testing Working Party of the Australasian Association of Clinical Biochemists is the appropriate body to address the problems involved in sweat testing and to bring about change.

The detection of a clonal Pseudomonas aeruginosa strain in 21% of children attending a cystic fibrosis clinic during 1999, which may have led to a worse prognosis, prompted strict infection control measures, including cohort segregation. We determined whether these strategies interrupted cross-infection within the clinic. Patients from 1999 were observed and a cross-sectional study of the 2002 clinic was performed. By 2002, the epidemic strain prevalence had decreased from 21 to 14% (p = 0.03), whereas the proportion of patients with nonepidemic P. aeruginosa strains was unchanged. The age- and sex-adjusted relative risk for epidemic strains among sputum producers in 2002 compared with 1999 was 0.64 (95% confidence interval, 0.47, 0.87; p = 0.004). Increased mortality or transfer to another clinic did not explain this reduction. Although children with epidemic strains may have had increased mortality (adjusted odds ratio, 2.0; 95% confidence interval, 0.6-6.8), they did not demonstrate greater morbidity than those with other P. aeruginosa isolates. Successful Infection control measures provided additional indirect evidence for person-to-person transmission of an epidemic strain within the clinic. Further studies are needed to resolve whether cohort segregation completely eliminates cross-infection and if acquisition of epidemic isolates is associated with worse outcomes.

Background: Accurate measurement of sweat chloride concentration is essential for the diagnosis of cystic fibrosis (CF). We surveyed all laboratories enrolled in the Royal College of Pathologists of Australasia Quality Assurance Program (QAP) for Sweat Electrolytes to determine how closely they comply with the Australian Guidelines for the performance of the sweat test for the diagnosis of CF. Method(s): A detailed questionnaire covering most aspects of sweat collection and analysis was sent to all participating laboratories in 2007. Result(s): Twenty out of 38 laboratories completed the questionnaire. While adherence to accepted guidelines was noted in many areas, the following main variations were recorded: some laboratories were not doing enough sweat tests to maintain expertise; some were not collecting sweat for the recommended collection time; sweat conductivity was the only test available in some laboratories; there was a lack of agreement between the sweat chloride concentration used to indicate CF or define an equivocal result. Conclusion(s): There is room for improvement in the performance of the sweat test in some laboratories in Australasia. The Sweat Testing Working Party of the Australasian Association of Clinical Biochemists is the appropriate body to address the problems involved in sweat testing and to bring about change.

Aim: To investigate parental attitudes to cystic fibrosis (CF) carrier detection of their infant by newborn screening (NBS). Method(s): Data were collected from a postal questionnaire sent to parents of infants identified as CF carriers by NBS in 1996-1997 (inclusive) and 2001 in Victoria, Australia (n = 66). Result(s): Almost all parents remembered their child being identified as a CF carrier (97%: 1996/1997; 100%: 2001); yet the majority were unaware at the time that NBS could detect carriers (70%: 1996/1997; 49%: 2001). More parents in the later cohort reported having carrier testing compared with the earlier cohort (85% and 53% respectively) but recall was more uncertain in the earlier cohort when validated against health records. Cascade testing was not utilised frequently by other family members in either cohort. Residual risk of being a carrier if testing was negative was not well understood by parents. Some parents (28%: 1996/1997; 18%: 2001) had residual anxiety about the current health of their charrier child and their future reproductive decision making. Most parents were satisfied with the information provided to them at the time of the sweat test. Few differences were seen between the cohorts. Conclusion(s): Although the NBS process for CF in Victoria is working efficiently for the majority of families whose infant is identified as a carrier there are areas that can be improved. We recommend that greater attention should be given to informing parents that a consequence of NBS is CF carrier detection and strategies to improve utilisation of cascade testing should be developed. © 2006 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

The detection of a clonal Pseudomonas aeruginosa strain in 21% of children attending a cystic fibrosis clinic during 1999, which may have led to a worse prognosis, prompted strict infection control measures, including cohort segregation. We determined whether these strategies interrupted cross-infection within the clinic. Patients from 1999 were observed and a cross-sectional study of the 2002 clinic was performed. By 2002, the epidemic strain prevalence had decreased from 21 to 14% (p = 0.03), whereas the proportion of patients with nonepidemic P. aeruginosa strains was unchanged. The age- and sex-adjusted relative risk for epidemic strains among sputum producers in 2002 compared with 1999 was 0.64 (95% confidence interval, 0.47, 0.87; p = 0.004). Increased mortality or transfer to another clinic did not explain this reduction. Although children with epidemic strains may have had increased mortality (adjusted odds ratio, 2.0; 95% confidence interval, 0.6-6.8), they did not demonstrate greater morbidity than those with other P. aeruginosa isolates. Successful Infection control measures provided additional indirect evidence for person-to-person transmission of an epidemic strain within the clinic. Further studies are needed to resolve whether cohort segregation completely eliminates cross-infection and if acquisition of epidemic isolates is associated with worse outcomes.

Background: Carrier screening for cystic fibrosis is not widely available in Australia, partly due to concerns regarding its cost-effectiveness. The benefit of information from pregnancy to pregnancy has not been widely considered in existing cost-effectiveness analyses. Methods: A decision tree was constructed estimating costs and outcomes from screening, including both initial and subsequent pregnancies. Effectiveness was expressed in terms of CF births averted. Costs were collected using a health service perspective. All costs and outcomes were discounted at 5% per annum. Results: Screening reduced the annual incidence of CF births from 34 to 14/100,000 births (an aggregate number of CF births of 100.9 and 41.9 respectively). In initial pregnancies, costs in the screening arm (A$16.6. million/100,000 births) exceed those in the non-screening arm (A$13.4. million/100,000 births). The incremental cost per CF birth in initial pregnancies is therefore approximately A$150,000. However, this was reversed for subsequent pregnancies, in that the pre-collected information reduces the incidence of CF in subsequent pregnancies at low additional costs. When aggregated, the results suggest screening is likely to be cost-saving. Conclusions: The introduction of national carrier screening for cystic fibrosis should be considered, as it is likely to reduce CF incidence at an acceptable (potentially negative) cost. © 2012 European Cystic Fibrosis Society.

Background: Carrier screening for cystic fibrosis is not widely available in Australia, partly due to concerns regarding its cost-effectiveness. The benefit of information from pregnancy to pregnancy has not been widely considered in existing cost-effectiveness analyses. Methods: A decision tree was constructed estimating costs and outcomes from screening, including both initial and subsequent pregnancies. Effectiveness was expressed in terms of CF births averted. Costs were collected using a health service perspective. All costs and outcomes were discounted at 5% per annum. Results: Screening reduced the annual incidence of CF births from 34 to 14/100,000 births (an aggregate number of CF births of 100.9 and 41.9 respectively). In initial pregnancies, costs in the screening arm (A$16.6. million/100,000 births) exceed those in the non-screening arm (A$13.4. million/100,000 births). The incremental cost per CF birth in initial pregnancies is therefore approximately A$150,000. However, this was reversed for subsequent pregnancies, in that the pre-collected information reduces the incidence of CF in subsequent pregnancies at low additional costs. When aggregated, the results suggest screening is likely to be cost-saving. Conclusions: The introduction of national carrier screening for cystic fibrosis should be considered, as it is likely to reduce CF incidence at an acceptable (potentially negative) cost. © 2012 European Cystic Fibrosis Society.

The onset of lung disease in cystic fibrosis (CF) begins early in life with respiratory infection, inflammation, and structural lung damage all reported in infants with CF in the first months of life. As new treatments become available, it is essential that we have outcome measures that can be used to track disease progression and treatment efficacy. In this review, we have examined the role of lung function testing in infants and preschool children with CF. In particular, we have focused on the ability of the various lung function tests to detect the presence of respiratory pathogens and structural lung disease, increased inflammation, and the onset of acute exacerbations.

Background: Carrier screening for cystic fibrosis is not widely available in Australia, partly due to concerns regarding its cost-effectiveness. The benefit of information from pregnancy to pregnancy has not been widely considered in existing cost-effectiveness analyses.Methods: A decision tree was constructed estimating costs and outcomes from screening, including both initial and subsequent pregnancies. Effectiveness was expressed in terms of CF births averted. Costs were collected using a health service perspective. All costs and outcomes were discounted at 5% per annum.Results: Screening reduced the annual incidence of CF births from 34 to 14/100,000 births (an aggregate number of CF births of 100.9 and 41.9 respectively). In initial pregnancies, costs in the screening arm (A$16.6 million/100,000 births) exceed those in the non-screening arm (A $13.4 million/100,000 births). The incremental cost per CF birth in initial pregnancies is therefore approximately A$150,000. However, this was reversed for subsequent pregnancies, in that the pre-collected information reduces the incidence of CF in subsequent pregnancies at low additional costs.When aggregated, the results suggest screening is likely to be cost-saving.Conclusions: The introduction of national carrier screening for cystic fibrosis should be considered, as it is likely to reduce CF incidence at an acceptable (potentially negative) cost.

RATIONALE: Better understanding of evolution of lung function in infants with cystic fibrosis (CF) and its association with pulmonary inflammation and infection is crucial in informing both early intervention studies aimed at limiting lung damage and the role of lung function as outcomes in such studies. OBJECTIVES: To describe longitudinal change in lung function in infants with CF and its association with pulmonary infection and inflammation. METHODS: Infants diagnosed after newborn screening or clinical presentation were recruited prospectively. FVC, forced expiratory volume in 0.5 seconds (FEV(0.5)), and forced expiratory flows at 75% of exhaled vital capacity (FEF(75)) were measured using the raised-volume technique, and z-scores were calculated from published reference equations. Pulmonary infection and inflammation were measured in bronchoalveolar lavage within 48 hours of lung function testing. MEASUREMENTS AND MAIN RESULTS: Thirty-seven infants had at least two successful repeat lung function measurements. Mean (SD) z-scores for FVC were -0.8 (1.0), -0.9 (1.1), and -1.7 (1.2) when measured at the first visit, 1-year visit, or 2-year visit, respectively. Mean (SD) z-scores for FEV(0.5) were -1.4 (1.2), -2.4 (1.1), and -4.3 (1.6), respectively. In those infants in whom free neutrophil elastase was detected, FVC z-scores were 0.81 lower (P=0.003), and FEV(0.5) z-scores 0.96 lower (P=0.001), respectively. Significantly greater decline in FEV(0.5) z-scores occurred in those infected with Staphylococcus aureus (P=0.018) or Pseudomonas aeruginosa (P=0.021). CONCLUSIONS: In infants with CF, pulmonary inflammation is associated with lower lung function, whereas pulmonary infection is associated with a greater rate of decline in lung function. Strategies targeting pulmonary inflammation and infection are required to prevent early decline in lung function in infants with CF.

Rationale: Better understanding of evolution of lung function in infants with cystic fibrosis (CF) and its association with pulmonary inflammation and infection is crucial in informing both early intervention studies aimed at limiting lung damage and the role of lung function as outcomes in such studies. Objectives: To describe longitudinal change in lung function in infants with CF and its association with pulmonary infection and inflammation. Methods: Infants diagnosed after newborn screening or clinical presentation were recruited prospectively. FVC, forced expiratory volume in 0.5 seconds (FEV0.5), and forced expiratory flows at 75% of exhaled vital capacity (FEF75) were measured using the raised-volume technique, and z-scores were calculated from published reference equations. Pulmonary infection and inflammation were measured in bronchoalveolar lavage within 48 hours of lung function testing. Measurements and Main Results: Thirty-seven infants had at least two successful repeat lung function measurements. Mean (SD) z-scores for FVC were −0.8 (1.0), −0.9 (1.1), and −1.7 (1.2) when measured at the first visit, 1-year visit, or 2-year visit, respectively. Mean (SD) z-scores for FEV0.5 were −1.4 (1.2), −2.4 (1.1), and −4.3 (1.6), respectively. In those infants in whom free neutrophil elastase was detected, FVC z-scores were 0.81 lower (P = 0.003), and FEV0.5 z-scores 0.96 lower (P = 0.001), respectively. Significantly greater decline in FEV0.5 z-scores occurred in those infected with Staphylococcus aureus (P = 0.018) or Pseudomonas aeruginosa (P = 0.021). Conclusions: In infants with CF, pulmonary inflammation is associated with lower lung function, whereas pulmonary infection is associated with a greater rate of decline in lung function. Strategies targeting pulmonary inflammation and infection are required to prevent early decline in lung function in infants with CF.