Liane Ioannou

Meta-analytic evidence for decreased heart rate variability in chronic pain implicating parasympathetic nervous system dysregulation.

Abstract Both sympathetic and parasympathetic nervous systems are involved in regulating pain states. The activity of these systems seems to become disturbed in states of chronic pain. This disruption in autonomic balance can be measured through the assessment of heart rate variability (HRV), that is, the variability of the interval between consecutive heart beats. However, there is yet to be a systematic evaluation of the body of literature concerning HRV across several chronic pain conditions. Moreover, modern meta-analytical techniques have never been used to validate and consolidate the extent to which HRV may be decreased in chronic pain. Following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement guidelines, this study systematically evaluated and critically appraised the literature concerning HRV in people living with chronic pain. After screening 17,350 sources, 51 studies evaluating HRV in a chronic pain group met the inclusion criteria. Twenty-six moderate–high quality studies were included in quantitative meta-analyses. On average, the quality of studies was moderate. There were 6 frequency-domain and time-domain measures of HRV across a broad range of chronic pain conditions. High heterogeneity aside, pooled results from the meta-analyses reflected a consistent, moderate-to-large effect of decreased high-frequency HRV in chronic pain, implicating a decrease in parasympathetic activation. These effects were heavily influenced by fibromyalgia studies. Future research would benefit from wider use of standardised definitions of measurement, and also investigating the synergistic changes in pain state and HRV throughout the development and implementation of mechanism-based treatments for chronic pain.

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500–3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.Genet Med 2014:16(3):207–216

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience

Background: Cystic fibrosis (CF) is the most common inherited, life‐shortening condition affecting Australian children. The carrier frequency is one per 25 and most babies with CF are born to parents with no family history. Carrier testing is possible before a couple has an affected infant.

Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools

Ioannou L, Massie J, Lewis S, Petrou V, Gason A, Metcalfe S, Aitken MA, Bankier A, Delatycki MB. Evaluation of a multi‐disease carrier screening programme in Ashkenazi Jewish high schools.

Population-Based Genetic Screening for Cystic Fibrosis: Attitudes and Outcomes

A population-based cystic fibrosis (CF) carrier screening program was introduced in Victoria, Australia in 2006, and was offered to couples planning a pregnancy or in early pregnancy for a fee. Individuals received pre-test advice from their doctor and through a brochure. Carriers identified received genetic counseling. The aim of this study was to assess the attitudes of people undertaking screening. Between January 2006 and June 2008 all carriers (n = 79) and a randomly selected cohort of non-carriers (n = 162) were invited to participate. A purpose-designed questionnaire explored the following domains: knowledge, recollection and meaning of carrier status, reasons for having screening, anxiety and communication of results to family members. Forty-seven carriers (62%) and 65 non-carriers (41%) returned the questionnaire. Most participants were female (97%) aged 35–39 (46%). The main reasons for choosing screening were the perception of CF as a severe condition and a doctor’s recommendation. All carriers correctly recalled their carrier status and the risk of having a child with CF, while 3 non-carriers (4.7%) were unsure of their carrier status and 12 (22%) incorrectly recalled their residual risk. Carriers answered the knowledge questions correctly more often than non-carriers. There was no difference in anxiety between carriers and non-carriers. The majority of carriers informed relatives of their increased risk of being a carrier. We conclude that participants’ attitude towards carrier screening for CF was generally very positive. Our model of screening could be applied on a larger scale.

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions

An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

Chronic Pain following Motor Vehicle Collision: A Systematic Review of Outcomes Associated with Seeking or Receiving Compensation

Objective:Motor vehicle collisions (MVC) are a major cause of injury, which frequently lead to chronic pain and prolonged disability. Several studies have found that seeking or receiving financial compensation following MVC leads to poorer recovery and worse pain. We evaluated the evidence for the relationship between compensation and chronic pain following MVC within a biopsychosocial framework. Method:A comprehensive search of 5 computerized databases was conducted. Methodological quality was evaluated independently by 2 researchers according to formal criteria, and discrepancies were resolved with a third reviewer. Results:We identified 5619 studies, from which 230 full-text articles were retrieved and 27 studies were retained for appraisal. A third of studies (37%) were of low quality, and 44% did not measure or control for factors such as injury severity or preinjury pain and disability. Most studies (70%) reported adverse outcomes, including all of the highest quality studies. Engagement with compensation systems was related to more prevalent self-reported chronic pain, mental health disorders, and reduced return to work. Recovery was poorer when fault was attributed to another, or when a lawyer was involved. Five studies compared Tort “common law” and No-Fault schemes directly and concluded that Tort claimants had poorer recovery. Conclusions:Although causal relationships cannot be assumed, the findings imply that aspects of loss, injustice, and secondary mental health outcomes lead to chronic pain following MVC. Further robust prospective research is required to understand the complex relationship between compensation systems and pain following road trauma, particularly the role of secondary mental health outcomes.

Suddenly having two positive people who are carriers is a whole new thing - experiences of couples both identified as carriers of cystic fibrosis through a population-based carrier screening program in Australia

A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the “next step.” The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.

Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

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 population-based 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 with CF 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.

Prenatal and preconception population carrier screening for cystic fibrosis in Australia: Where are we up to?

To describe prenatal and preconception population carrier screening for cystic fibrosis (CF) in Australia and consider progress towards establishing a universal program.