Evaluating documentation of social history in paediatric medical notes at a regional paediatric centre - a quality improvement initiative.

BACKGROUND: A child's home and family environment plays a vital role in neuro-cognitive and emotional development. Assessment of a child's home environment and social circumstances is an crucial part of holistic Paediatric assessment. AIMS: Our aim is to achieve full compliance with comprehensive documentation of biopsychosocial history, for all children medically admitted to the children's inpatient unit in University Hospital Limerick. METHODS: We performed a retrospective chart review to audit documentation within our department. This was followed by teaching interventions and a survey on knowledge, attitudes and behaviour of paediatric non-consultant hospital doctors (NCHDs) towards the social history. We performed two subsequent re-audits to assess response to our interventions, and provided educational sessions to seek improvement in quality of care. RESULTS: Results showed a significant improvement in quality of documentation following interventions, demonstrated by a net increase of 53% in levels of documentation of some social history on first re-audit. Though this was not maintained at an optimum level throughout the course of the year with compliance reduced from 95% to 82.5% on second re-audit, there was nonetheless a sustained improvement from our baseline. Our qualitative survey suggested further initiatives and educational tools that may be helpful in supporting the ongoing optimisation of the quality of documentation of social history in our paediatric department. CONCLUSION: We hope this quality improvement initiative will ultimately lead to sustained improvements in the quality of patient-centred care, and early identification and intervention for children at risk in our community.

Estimated Weight of Paediatric Patients versus Measured Weight ­ A Prospective Comparison

Introduction Weight measurement is fundamental in the management of paediatric patients. Many methods have been described for estimating a patient's weight. The aim of this study was to assess the accuracy of the APLS 2017 estimated weight guidelines. Methods 100 patient charts were analysed in University Hospital Limerick's Paediatric unit. Measured weights were recorded, and estimated weights were calculated using the APLS 2017 charts. Estimated and measured weight was compared using Bland Altman plots. Results Of 100 subjects, 53 (53%) were female and 47 (47%) male. Fifty subjects (50%) were Pre-School, 32 (32%) Primary School and 18 (18%) Secondary School. Estimated weight was a good predictor for measured weight, however weight was underestimated by between 2.34% and 16.39% of measured weight. Discussion The current APLS guidelines are reasonably accurate; but accuracy decreases with increasing age. Estimation cannot replace an accurate measurement, which is not always feasible in the acute setting.

Coming of Age in Ireland: the Twilight Zone!

Aim To describe the healthcare needs of adolescent patients inhabiting the 'seventh age of childhood' in our region with a view towards future workforce and infrastructure planning. Methods This is a retrospective descriptive study of patients aged between 14 and 16 years presenting to each of the six hospitals in our hospital group over a 10 year period (01.07.2006-1.07.2016) using electronic databases. Results There were 10,992 hospital admissions, 41,456 outpatient appointments and an average of 1,847 attendances per year at our Emergency Department in this age group. Seventeen percent (n=1,873) of patients were admitted to age appropriate wards. Only 11.3% (n=1,242) of our cohort were admitted under the care of a Paediatrician. Conclusion The Irish healthcare agenda needs to be advanced to ensure the optimal health for this valuable, yet vulnerable generation. Further investment will help shape the fledgling discipline of 'adolescent health' in Ireland.

Specific language impairment is associated with maternal and family factors.

BACKGROUND: This study aimed to identify risk factors associated with specific language impairment (SLI). METHODS: In a nested case-control design, 253 children attending special needs schools for severe speech and language difficulties in the Netherlands were matched for sex and date of birth with 253 children attending mainstream education. Data on perinatal, maternal and family issues were retrieved from well-child care files registered shortly after birth. RESULTS: Children with SLI had younger mothers than children in the control group (mean 30 years 9 months vs. mean 31 years 9 months) (P = 0.02). Children with SLI were less frequently breastfed directly after birth (55% vs. 71%) (P = 0.0007) and were less frequently firstborns (33.3% vs. 46.2%) (P = 0.002). No statistically significant differences were found for any of the other risk factors. CONCLUSIONS: A relationship was found between SLI and maternal age, being breastfed and place in the birth order. Perinatal risk factors do not seem to be strongly associated with SLI.

Gene expression profiles predictive of cold-induced sweetening in potato.

Cold storage (2-4 °C) used in potato production to suppress diseases and sprouting during storage can result in cold-induced sweetening (CIS), where reducing sugars accumulate in tuber tissue leading to undesirable browning, production of bitter flavors, and increased levels of acrylamide with frying. Potato exhibits genetic and environmental variation in resistance to CIS. The current study profiles gene expression in post-harvest tubers before cold storage using transcriptome sequencing and identifies genes whose expression is predictive for CIS. A distance matrix for potato clones based on glucose levels after cold storage was constructed and compared to distance matrices constructed using RNA-seq gene expression data. Congruence between glucose and gene expression distance matrices was tested for each gene. Correlation between glucose and gene expression was also tested. Seventy-three genes were found that had significant p values in the congruence and correlation tests. Twelve genes from the list of 73 genes also had a high correlation between glucose and gene expression as measured by Nanostring nCounter. The gene annotations indicated functions in protein degradation, nematode resistance, auxin transport, and gibberellin response. These 12 genes were used to build models for prediction of CIS using multiple linear regression. Nine linear models were constructed that used different combinations of the 12 genes. An F-box protein, cellulose synthase, and a putative Lax auxin transporter gene were most frequently used. The findings of this study demonstrate the utility of gene expression profiles in predictive diagnostics for severity of CIS.

Disease burden of congenital cytomegalovirus infection at school entry age: study design, participation rate and birth prevalence.

Congenital cytomegalovirus infection (cCMV) may lead to symptoms at birth and long-term consequences. We present a nationwide, retrospective cohort study on the outcome of cCMV up to age 6 years. For this study we identified cCMV, using polymerase chain reaction, by analysing dried blood spots, which are taken shortly after birth for neonatal screening. The group of children with cCMV were compared to a group of children who were cCMV negative at birth. Data were collected about their health and development up to age 6 years. Parents of 73 693 children were invited to participate, and 32 486 (44·1%) gave informed consent for testing of their child's dried blood spot for CMV. Of the 31 484 dried blood spots tested, 156 (0·5%) were positive for cCMV. Of these, four (2·6%) children had been diagnosed with cCMV prior to this study. This unique retrospective nationwide study permits the estimation of long-term sequelae of cCMV up to the age of 6 years. The birth prevalence of cCMV in this study was 0·5%, which is in line with prior estimates. Most (97·4%) children with cCMV had not been diagnosed earlier, indicating under-diagnosis of cCMV.

The Establishment of a Pilot Paediatric Obesity Clinic at the University Hospital, Limerick.

This study describes the establishment of a pilot Paediatric Obesity Clinic (POC) in the University Hospital Limerick (UHL). Referrals were received from consultant paediatricians in the catchment areas of UHL for paediatric patients with high levels of excess adiposity. Fifteen patients and their families were invited to the POC in 2012. An initial medical assessment was conducted by 2 consultant paediatricians. Patients were also reviewed by a dietitian, a physiotherapist and physical activity experts from local Sports Partnerships. Twelve children and their families attended the POC (mean age = 8.08 years; Range = 3.6-13.6): 11/12 were overweight and 9/12 were obese. Abnormalities in blood work were detected as follows: 1/7 had elevated LDL-cholesterol; 2/8 had elevated triglyceride levels; 4/8 had elevated fasting insulin; 2/8 had elevated fasting glucose. With the current prevalence of obesity in paediatric populations, initiatives such as UHL's POC need to be established, funded and supported, to try to meet complex, multidisciplinary patient needs and to prevent future complex and expensive health complications.

Cytomegalovirus infection in the Netherlands: seroprevalence, risk factors, and implications.

BACKGROUND: Cytomegalovirus (CMV) infections occur worldwide and are usually asymptomatic in healthy individuals. In fetuses and immunocompromised persons, they can cause severe disease and disabilities. OBJECTIVE: To determine the CMV seroprevalence and risk factors for CMV infection in the Netherlands. STUDY DESIGN: In a cross-sectional population-based study (PIENTER-2, 2006-2007), sera and questionnaire data were collected from 6386 individuals. Sera were tested for CMV-specific IgG antibodies using enzyme-linked immunosorbent assay (ELISA). RESULTS: The CMV seroprevalence in the general population (6 months-79 years) was 45.6%. Age and country of origin were the most prominent independent risk factors. The seroprevalence was significantly lower in native Dutch and Western individuals (41.5%) than in non-Western individuals (76.7%). Multivariable logistic regression analysis showed that age, lower educational level, first-generation migrancy, and among native Dutch/Western individuals, female gender and having contact with young children, were independently associated with CMV seropositivity. The geometric mean concentrations of antibodies increased with age and were higher in women than in men. CONCLUSION: CMV seroprevalence in the Netherlands is relatively low compared to other countries. This is in line with our finding of a higher seroprevalence among migrants compared to the native population. The higher seroprevalence in women and individuals who have contact with young children is especially important for women of reproductive age. Preventing CMV infection in these women, through counseling on hygiene or possible future vaccination, may lead to a decrease of congenital CMV infections.

Support and monitoring of families after child abuse detection based on parental characteristics at the Emergency Department.

BACKGROUND: The 'Hague Protocol' enables professionals at the adult Emergency Department (ED) to detect child abuse based on three parental characteristics: (i) suicide attempt or self-harm, (ii) domestic violence or (iii) substance abuse, and to refer them to the Reporting Centre for Child Abuse and Neglect (RCCAN). This study investigates what had happened to the families three months after this referral. METHOD: ED referrals based on parental characteristics (N = 100) in which child abuse was confirmed after investigation by the RCCAN were analysed. Information was collected regarding type of child abuse, reason for reporting, duration of problems prior to the ED referral, previous involvement of support services or other agencies, re-occurrence of the problems and outcome of the RCCAN monitoring according to professionals and the families. RESULTS: Of the 100 referred cases, 68 families were already known to the RCCAN, the police or family support services, prior to the ED referral. Of the 99 cases where information was available, existing support was continued or intensified in 31, a Child Protection Services (CPS) report had to be made in 24, new support was organized for 27 cases and in 17 cases support was not necessary, because the domestic problems were already resolved. Even though the RCCAN is mandated to monitor all referred families after three months, 31 cases which were referred internally were not followed up. CONCLUSION: Before referral by the ED two thirds of these families were already known to organizations. Monitoring may help provide a better, more sustained service and prevent and resolve domestic problems. A national database could help to link data and to streamline care for victims and families. We recommend a Randomized Controlled Trial to test the effectiveness of this Protocol in combination with the outcomes of the provided family support.

Troponin I phosphorylation in human myocardium in health and disease.

Cardiac troponin I (cTnI) is well known as a biomarker for the diagnosis of myocardial damage. However, because of its central role in the regulation of contraction and relaxation in heart muscle, cTnI may also be a potential target for the treatment of heart failure. Studies in rodent models of cardiac disease and human heart samples showed altered phosphorylation at various sites on cTnI (i.e. site-specific phosphorylation). This is caused by altered expression and/or activity of kinases and phosphatases during heart failure development. It is not known whether these (transient) alterations in cTnI phosphorylation are beneficial or detrimental. Knowledge of the effects of site-specific cTnI phosphorylation on cardiomyocyte contractility is therefore of utmost importance for the development of new therapeutic strategies in patients with heart failure. In this review we focus on the role of cTnI phosphorylation in the healthy heart upon activation of the beta-adrenergic receptor pathway (as occurs during increased stress and exercise) and as a modulator of the Frank-Starling mechanism. Moreover, we provide an overview of recent studies which aimed to reveal the functional consequences of changes in cTnI phosphorylation in cardiac disease.

Association of adverse perinatal outcomes with screening measures of obstructive sleep apnea.

OBJECTIVE: This prospective observational study explored the association of hypertensive disorders of pregnancy and small-for-gestational age with obstructive sleep apnea (OSA) as determined by screening measures for OSA and sleep studies. STUDY DESIGN: Two symptom-based screening questionnaires, the Berlin Questionnaire (BQ) and the Epworth Sleepiness Scale (ESS), were administered to enroll 1509 gravidae. Screen-positive subjects were referred for polysomnography. The primary outcome was the occurrence of either gestational hypertension or preeclampsia. Generalized linear models (GLM) were used to estimate the relative risks of associations. RESULT: One thousand one hundred and fifty-seven subjects were available for outcomes analysis. Screening positive on the BQ was positively associated with hypertensive disorders in GLM models (adjusted relative risk=1.90, 95% confidence interval 1.52 to 2.37). CONCLUSION: In this large prospective trial, GLM modeling suggests that the BQ but not the ESS demonstrated significant association with measured adverse pregnancy outcomes, and specific items predicted these outcomes better than others. However, causative association of BQ with OSA cannot be assumed.

Obstructive sleep apnea in pregnancy: reliability of prevalence and prediction estimates.

OBJECTIVE: We sought to ascertain the validity of two screening scales for obstructive sleep apnea (OSA) in pregnancy and to establish the prevalence of OSA in pregnancy. STUDY DESIGN: In this prospective observational study, two screening scales were administered. Screen positive subjects were referred for diagnostic polysomnography (PSG); if admitted for antepartum care, screen positive subjects underwent a modified study with a type 3 device (T3D). RESULT: A total of 1509 subjects underwent OSA screening; 58 completed diagnostic testing. Neither measure was a reliable diagnostic tool for OSA as determined by T3D or PSG (detection rates of 10.3% and 18.0%, respectively). Among screen positive subjects undergoing PSG or T3D testing, 15.5% ultimately met 'gold standard' OSA diagnostic criteria for an estimated point prevalence of 4.9%. CONCLUSION: In this prospective trial, screening positive on the Berlin questionnaire or Epworth sleepiness scale was poorly predictive of OSA among gravidae and was associated with a high false referral rate.

Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses.

REASONS FOR PERFORMING THE STUDY: To explore whether genetic susceptibility is a potential risk factor for superficial digital flexor (SDF) tendinopathy in Thoroughbred (TB) racehorses. OBJECTIVES: To identify informative single nucleotide polymorphisms (SNPs) that capture genetic diversity across a range of candidate genes and to investigate, in a case-control study, their association with SDF tendinopathy in UK National Hunt TB racehorses in training. STUDY DESIGN: Case-control candidate gene association study. METHODS: This study used in silico gene assembly and DNA sequencing to screen candidate genes for SNPs. Seven candidate genes were selected using a hypothesis-driven approach: tenascin-C (TNC), collagen, type 1, α 1 (COL1A1), collagen, type 5, α 1 (COL5A1), matrix metalloproteinase type 3 (MMP3), matrix metalloproteinase type 13 (MMP13), fibromodulin (FMOD) and cartilage oligomeric matrix protein (COMP). The SNPs were validated in DNA isolated from 48 TB racehorses and used to genotype 270 racehorses with SDF tendinopathy and 270 yard-matched controls. Genotyping of cases and controls was performed using SNaPshot™. RESULTS: Racehorses heterozygous for the TNC BIEC2-696469 polymorphism were less likely to have SDF tendinopathy than racehorses homozygous for the wild-type allele (odds ratio [OR] 0.56, 95% confidence interval [CI] 0.36-0.85, P = 0.01). This finding remained significant after adjustment for age and racing background (OR 0.57, 95% CI 0.36-0.92, P = 0.03). Racehorses homozygous for the novel COL5A1 COL5A1_01 variant allele were nearly 3 times more likely to have SDF tendinopathy than those homozygous for the wild-type allele (OR 2.82, 95% CI 1.25-6.35, P = 0.01); this association remained significant after adjustment for age and racing background (OR 2.77, 95% CI 1.18-6.53, P = 0.03). CONCLUSIONS: Results suggest that sequence variants in TNC and COL5A1 genes are associated with SDF tendinopathy in TB racehorses. In future genetic markers may be used to identify horses at risk of SDF tendinopathy.

Thoroughbred racehorse mitochondrial DNA demonstrates closer than expected links between maternal genetic history and pedigree records.

The potential future earnings and therefore value of Thoroughbred foals untested in the racing arena are calculated based on the performance of their forebears. Thus, lineage is of key importance. However, previous research indicates that maternally inherited mitochondrial DNA (mtDNA) does not correspond to maternal lineage according to recorded pedigree, casting doubt on the voracity of historic pedigrees. We analysed mtDNA of 296 Thoroughbred horses from 33 maternal lineages and identified an interesting trend. Subsequent to the founding of the Thoroughbred breed in the 16th century, well-populated maternal lineages were divided into sub-lineages. Only six in 10 of the Thoroughbreds sampled shared mitochondrial haplotype with other members of their maternal lineage, despite having a common maternal ancestor according to pedigree records. However, nine in 10 Thoroughbreds from the 103 sub-lineages sampled shared mtDNA with horses of their maternal pedigree sub-lineage. Thus, Thoroughbred maternal sub-lineage pedigree represents a more accurate breeding record than previously thought. Errors in pedigrees must have occurred largely, though, not exclusively, at sub-lineage foundation events, probably due to incomplete understanding of modes of inheritance in the past, where maternal sub-lineages were founded from individuals, related, but not by female descent.

National study of newborn hearing screening: programme sensitivity and characteristics of undetected children.

UNLABELLED: The success of universal newborn hearing screening (UNHS) programmes is usually evaluated by determining the effect of the early detection of hearing loss on developmental outcome. However, in practice, these programmes do not detect all children with permanent childhood hearing impairment. In this study we determine the sensitivity of the current UNHS programme and analyse the characteristics of the children not detected by UNHS. We performed a nationwide, population-based, retrospective follow-up study in The Netherlands. All children born in 2003-05 and screened in a hearing screening programme (well babies and neonatal intensive care (NICU) graduates) were included for study. The main outcome measure was the sensitivity of the UNHS programme (based on the proportion of children known to have a permanent childhood hearing impairment in 2008 who were identified by UNHS). We also evaluated age at diagnosis, severity, and aetiology of hearing impairment in the children not detected by UNHS. We found that the sensitivity of the current UNHS programme was 0.83 (0.79 for well babies and 0.96 for NICU graduates). Permanent childhood hearing impairment was confirmed before 36 months of age in 96% of the study cohort. Of the children unidentified by the UNHS, > 50% had moderate hearing loss. No predominant cause of hearing impairment was found in these children. CONCLUSION: Our current UNHS programme identified the majority of children with a permanent hearing impairment of congenital cause.

Auditory neuropathy in a low-risk population: a review of the literature.

OBJECTIVE: Collect all available published evidence on the prevalence of auditory neuropathy in the well baby population and calculate the contribution of this to the false negative rate of oto-acoustic emission based newborn hearing screening programs. METHOD: PubMed and EMBASE were searched for relevant articles published between 1996 and 2010. Medical Subject Headings terms included 'Auditory disease', 'Prevalence' and 'Child' and their relevant synonyms. Included were original studies, which focused on well babies and reported the prevalence of auditory neuropathy. RESULTS: Of 519 citations 4 articles met the inclusion criteria. The population based prevalence of auditory neuropathy in children in population hearing screening was found to vary between 0.006% (SD 0.006) and 0.03% (SD 0.02). The false negative rate, caused by missed children with auditory neuropathy, is between 4 and 17%. CONCLUSION: The available information on the prevalence of auditory neuropathy in the well baby population is poor. However, if oto-acoustic emission screening is used in the first stage of a neonatal hearing screening program, children with auditory neuropathy are missed. The cost-effectiveness of population-based screening using auditory brainstem response should be studied.