Missed or delayed diagnosis of anorectal malformations: a review of the literature, current training and practice in the UK in relation to detection via the NIPE programme.

Anorectal malformations (ARMs) are a spectrum of congenital anomalies where there is abnormal development of the anus and rectum. With an incidence of 1:5000 live births and affecting both males and females, these anomalies vary in their appearance and presentation, lack features enabling antenatal detection and should be detected at birth by the examining midwife or within 72 hours through the newborn and infant physical examination (NIPE) screening programme. However, it is recognised that the diagnosis of ARMs can be missed or delayed leading to morbidity and mortality. In the UK, despite the existence of the NIPE screening programme and NICE guidelines, published literature shows that nearly a quarter of ARMs are not diagnosed at birth. This review takes a critical look at the frequency of missed/delayed diagnosis of ARMs at birth, the implications of delayed diagnosis, and the possible reasons for this related to education and training of healthcare professionals involved in newborn examination, focusing on the UK national screening programme for NIPE. We propose a strategy for enhancing detection of ARMs in a timely manner through the existing framework of the NIPE screening programme.

Outcomes at five to eight years of age for children with Hirschsprung's disease.

OBJECTIVE: This study describes core outcomes of Hirschsprung's disease (HD) in a UK-wide cohort of primary school-aged children. DESIGN: A prospective cohort study conducted from 1 October 2010 to 30 September 2012. Outcomes data were collected from parents and clinicians when children were 5-8 years of age, and combined with data collected at birth, and 28 days and 1 year post diagnosis. SETTING: All 28 UK and Irish paediatric surgical centres. PARTICIPANTS: Children with histologically proven HD diagnosed at <6 months of age. MAIN OUTCOME MEASURES: NETS1HD core outcomes. RESULTS: Data were returned for 239 (78%) of 305 children. Twelve children (5%) died prior to 5 years of age.Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. Of the 197 children without a stoma, 155 (79%) maintained bowel movements without enemas/washouts, while 124 (63%) reported faecal incontinence. Of the 214 surviving children who had undergone a pull-through operation, 95 (44%) underwent ≥1 unplanned reoperation. 89 unplanned reoperations (27%) were major/complex.Of the 83 children with returned PedsQL scores, 37 (49%) had quality of life scores, and 31 (42%) had psychological well-being scores, that were ≥1 SD lower than the reference population mean for children without HD. CONCLUSION: This study gives a realistic picture of population outcomes of HD in primary school-aged children in the UK/Ireland. The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. Ensuring clinicians address the bladder, bowel and psychological problems experienced by children should be a priority.

Patients' experience of portacaths in cystic fibrosis: questionnaire-based study.

BACKGROUNDS AND AIMS: Portacaths are regularly used in children with cystic fibrosis (CF). We aimed to assess patient satisfaction with lateral chest wall portacaths in children with CF. METHODS: All children in a geographical region with CF and portacath in situ were identified. Site of chest wall placement was identified on X-ray; only children with lateral chest wall portacaths were sent questionnaires. Data collected included preoperative information, cosmesis and interference with activities. RESULTS: Of the 46 patients identified, 42 had lateral chest wall ports. 25 of this 42(60%) submitted their questionnaires. 22(88%) were happy with preoperative information although only 8(32%) recall being offered choice of position. 23(92%) were satisfied with cosmesis. 2 patients reported problems with physiotherapy only with indwelling needles. 6(24%) patients had problems with clothing, 7(32%) with sports and 3(12%) with seatbelts. CONCLUSIONS: Lateral chest wall portacaths are cosmetically acceptable. Impact on daily activities is less common than that reported with anterior chest wall placement.

Screening of testicular descent in older boys is worthwhile: an observational study.

BACKGROUND: Testicular descent in boys is now routinely screened only once, at 6-8 weeks of age. Early surgery for undescended testes is recommended. AIM: To assess the value of screening for testicular descent at 6-8 weeks, 8-9 months, and 39-42 months of age. DESIGN OF STUDY: Observational study. SETTING: Royal Hospital for Sick Children, Glasgow and the Scottish community-based Child Health Surveillance Programme. METHOD: Screening data for boys undergoing surgery for abnormal testicular descent between April 2006 and September 2007 was reviewed. The main outcome measure was median age at first operation for abnormal testicular descent comparing attendance at screening with non-attendance. RESULTS: Boys who attended screening underwent surgery at a significantly younger median age than boys who did not attend screening at 6-8 weeks (2.7 versus 7.7 years; P<0.001); 8-9 months (4.5 versus 9.7 years; P<0.001); and 39-42 months (7.8 versus 10.8 years; P = 0.014). A new diagnosis was made in 33% (42 of 128 boys) at 6-8 weeks, 28% (21/74) at 8-9 months, and 39% (15/38) at 39-42 months. Detection on screening did not always trigger referral. Referral was triggered by screening in 48% (62/128) of cases, and by incidental examinations in 27% (34/128). CONCLUSION: The previous screening regimen was effective, but checks at 8-9 months and 39-42 months have recently been abolished. Reinstatement of screening for testicular descent in older boys is advocated because screened boys underwent surgery at a younger age. Doctors should be encouraged to check testicular descent in boys throughout childhood, and refer promptly when there is any concern.

Bilious vomiting in the newborn: how often is further investigation undertaken?

BACKGROUND/PURPOSE: Pediatric surgeons consider bile vomiting in the neonate a potential surgical emergency. The reported rate of surgical intervention is 30% to 40%, but as most neonates are born outwith pediatric surgical centers, referral of these babies is at the neonatologists' discretion. The aim of this study was to determine the referral policy of neonatologists in the West of Scotland for a neonate with bile vomiting. METHODS: Questionnaires were sent to all neonatologists in the West of Scotland to determine the management plan for a neonate with a single bile vomit or repeated bile vomits. Respondents were asked to indicate whether they would advocate postnatal ward observation, admission to the special care baby unit, abdominal x-ray, or upper gastrointestinal contrast study, or refer to pediatric surgeons. Respondents were asked to prioritize these options numerically. RESULTS: A return rate of 81% was achieved. Most neonatologists (80%) would admit a neonate with a single bile vomit to the special care baby unit, but more than 50% did not consider an upper gastrointestinal contrast study appropriate. One third felt that pediatric surgical referral is not appropriate for a single bile vomit. In a neonate with persistent bile vomiting, pediatric surgical referral was considered the highest priority. CONCLUSION: Neonatologists use a policy of observation for neonates with a single bile vomit. Those neonates with no further bile vomiting are unlikely to be referred. Pediatric surgeons are not referred a significant proportion of neonates that vomit bile.

Colour of bile vomiting in intestinal obstruction in the newborn: questionnaire study.

OBJECTIVES: To identify the colour that different groups of observers thought represented bile in a newborn's vomit. DESIGN: Questionnaires displaying eight colours (pale yellow to dark green). SETTING: General practices in Glasgow, postnatal ward and level III special care baby unit in a university teaching hospital, and mother and toddler groups in Glasgow. PARTICIPANTS: 47 general practitioners, 29 nurses on the baby unit, 48 midwives, and 41 mothers of babies and infants. OUTCOME MEASURES: Participants indicated which colour would represent bile in a baby's vomit. More than one colour could be chosen. Respondents were also asked to indicate one colour that was the best match for bile. RESULTS: When any colour could be chosen, 12 (25%) general practitioners, 1 (3%) nurse on the baby unit, 5 (10%) postnatal midwives, and 23 (56%) parents did not consider green an appropriate colour for a baby's vomit containing bile. Twenty three (49%) general practitioners, 7 (24%) neonatal nurses, 15 (31%) postnatal midwives, and 29 (71%) parents thought yellow was the best colour match. CONCLUSIONS: There is little agreement about the colour of bile vomit in a newborn. It is more pertinent to ask parents about the colour of vomit rather than whether it contained bile. Many general practitioners and parents do not recognise green as an appropriate colour for bile in the vomit of newborns, which may delay surgical referral. Though yellow vomit does not exclude intestinal obstruction, the presence of green vomiting in a baby is a surgical emergency and requires expeditious referral.

Extracorporeal life support as a treatment of supraventricular tachycardia in infants.

There have been few reports of the use of extracorporeal life support (ECLS) to provide cardiac support in children with low cardiac output as a result of arrhythmias. We present two patients in whom venoarterial ECLS was used to provide support for cardiogenic shock secondary to intractable supraventricular tachycardia. In both cases, the arrhythmia terminated once bypass was established. In one case, the time on ECLS was used to optimize drug treatment, and in the other case, radiofrequency ablation was successfully undertaken during ECLS.