Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/treatment is available during childhood, and about genetic 'carrier' status to assess future reproductive risks. The study also examined participants' level of agreement with the reasons professional organisations give in favour of deferring such testing. Participants (n=2998) completed a specially designed questionnaire, distributed by email. Nearly half of the sample (47%) agreed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. This runs contrary to professional guidance about genetic testing in children. Testing for carrier status was supported by a larger proportion (60%). A child's future ability to decide for her/himself if and when to be tested was the least supported argument in favour of deferring testing.European Journal of Human Genetics advance online publication, 5 November 2014; doi:10.1038/ejhg.2014.221

Adult 'PICC' Device May be Used as a Tunnelled Central Venous Catheter in Children

Purpose: Central venous access in children, in particular small children and infants, is challenging. We have developed a technique employing adult peripherally inserted central venous catheters (PICCs) as tunnelled central venous catheters (TCVCs) in children. The principal advantage of this novel technique is that the removal technique is less complex than that of conventional cuffed TCVCs. The catheter can be removed simply by being pulled out and does not require general anaesthesia. The purpose of this study is to determine the success, safety and utility of this technique and to identify the rate of late complications. We describe the 6-year experience in our unit.Materials and methods: Electronic and paper medical records were reviewed for consecutive paediatric patients who had a PICC device inserted as a TCVC over a 6-year period (September 2009 through July 2015). The following data were recorded-patient demographics, setting for PICC as TCVC insertion, use of ultrasound and fluoroscopy, PICC device type, early or late complications and date of and reason for removal.Results: Twenty-one PICCs were inserted as TCVCs in 19 children, all aged less than 10 years. Mean patient age at the time of placement was 3.7 years. Average patient weight was 15.7 kg. All insertions were successful with no significant immediate complications recorded. The most common indication for insertion in our patient sample was pseudo-obstruction secondary to gastrointestinal dysmotility disorder (24%), with cystic fibrosis infective exacerbation being the second most frequent diagnosis (14%). Suspected catheter-related infection led to early device removal in one case (4.8%). Inadvertent dislodgement occurred in one case (4.8%). Nineteen of the 21 devices (90.4%) lasted for the total intended duration of use.Conclusion: Using a PICC device as a TCVC in small children appears to be a safe technique, with an acceptable complication profile.</p

Randomised controlled trial of thermostatic mixer valves in reducing bath hot tap water temperature in families with young children in social housing: A protocol

<p>Abstract</p> <p>Background</p> <p>Each year in the UK 2000 children attend emergency departments and 500 are admitted to hospital following a bath water scald. The long term effects can include disability, disfigurement or psychological harm and repeated skin grafts may be required as the child grows. The costs of treating a severe scald are estimated at 250,000 GBP. Children living in the most deprived wards are at greatest risk of thermal injuries; hospital admission rates are three times that for children living in the least deprived wards.</p> <p>Domestic hot water, which is usually stored at around 60 degrees Celsius, can result in a second-degree burn after 3 seconds and a third-degree burn after 5 seconds. Educational strategies to encourage testing of tap water temperature and reduction of hot water thermostat settings have largely proved unsuccessful. Legislation in the USA mandating pre-setting hot water heater thermostats at 49 degrees Celsius was effective in reducing scald injuries, suggesting passive measures may have a greater impact. Thermostatic mixer valves (TMVs), recently developed for the domestic market, fitted across the hot and cold water supply pipes of the bath, allow delivery of water set at a fixed temperature from the hot bath tap. These valves therefore offer the potential to reduce scald injuries.</p> <p>Design/Methods</p> <p>A pragmatic, randomised controlled trial to assess the effectiveness of TMVs in reducing bath hot tap water temperatures in the homes of families with young children in rented social housing. Two parallel arms include an intervention group and a control group where the intervention will be deferred.</p> <p>The intervention will consist of fitting a TMV (set at 44 degrees Celsius) by a qualified plumber and provision of educational materials. The control arm will not receive a TMV or the educational materials for the study duration but will be offered the intervention after collection of follow-up data 12 months post randomisation.</p> <p>The primary outcome measure will be the bath hot tap water temperature. Fifteen families per arm are required to detect a reduction in the mean bath hot tap water temperature from 60.4 degrees Celsius (SD 9.1) in the control group to 46 degrees Celsius in the intervention group, with 90% power and a 5% significance level (2 sided). Secondary outcome measures including acceptability will require a sample size of 120 participants.</p> <p>Discussion</p> <p>Whilst TMVs have the potential to reduce scald injuries, to date there have been no randomised controlled trials assessing their effectiveness, acceptability and cost effectiveness.</p> <p>Trial Registration</p> <p>ISRCTN21179067</p