Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Purpose Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). Results The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.

Using videotelephony to support paediatric oncology-related palliative care in the home : from abandoned RCT to acceptability study

Videotelephony (real-time audio-visual communication) has been used successfully in adult palliative home care. This paper describes two attempts to complete an RCT (both of which were abandoned following difficulties with family recruitment), designed to investigate the use of videotelephony with families receiving palliative care from a tertiary paediatric oncology service in Brisbane, Australia. To investigate whether providing videotelephone-based support was acceptable to these families, a 12-month non-randomised acceptability trial was completed. Seventeen palliative care families were offered access to a videotelephone support service in addition to the 24 hours ‘on-call’ service already offered. A 92% participation rate in this study provided some reassurance that the use of videotelephones themselves was not a factor in poor RCT participation rates. The next phase of research is to investigate the integration of videotelephone-based support from the time of diagnosis, through outpatient care and support, and for palliative care rather than for palliative care in isolation

The development and evaluation of an innovative nursing practice model to improve undergraduate nursing students' competence in paediatric physical assessment

Introduction The purpose of this study was to develop, implement and evaluate the impact of an educational intervention, comprising an innovative model of clinical decisionmaking and educational delivery strategy for facilitating nursing students‘ learning and development of competence in paediatric physical assessment practices. Background of the study Nursing students have an undergraduate education that aims to produce graduates of a generalist nature who demonstrate entry level competence for providing nursing care in a variety of health settings. Consistent with population morbidity and health care roles, paediatric nursing concepts typically form a comparatively small part of undergraduate curricula and students‘ exposure to paediatric physical assessment concepts and principles are brief. However, the nursing shortage has changed traditional nursing employment patterns and new graduates form the majority of the recruitment pool for paediatric nursing speciality staff. Paediatric nursing is a popular career choice for graduates and anecdotal evidence suggests that nursing students who select a clinical placement in their final year intend to seek employment in paediatrics upon graduation. Although concepts of paediatric nursing are included within undergraduate curriculum, students‘ ability to develop the required habits of mind to practice in what is still regarded as a speciality area of practice is somewhat limited. One of the areas of practice where this particularly impacts is in paediatric nursing physical assessment. Physical assessment is a fundamental component of nursing practice and competence in this area of practice is central to nursing students‘ development of clinical capability for practice as a registered nurse. Timely recognition of physiologic deterioration of patients is a key outcome of nurses‘ competent use of physical assessment strategies, regardless of the practice context. In paediatric nursing contexts children‘s physical assessment practices must specifically accommodate the child‘s different physiological composition, function and pattern of clinical deterioration (Hockenberry & Barrera, 2007). Thus, to effectively manage physical assessment of patients within the paediatric practice setting nursing students need to integrate paediatric nursing theory into their practice. This requires significant information processing and it is in this process where students are frequently challenged. The provision of rules or models can guide practice and assist novice-level nurses to develop their capabilities (Benner, 1984; Benner, Hooper-Kyriakidis & Stannard, 1999). Nursing practice models are cognitive tools that represent simplified patterns of expert analysis employing concepts that suit the limited reasoning of the inexperienced, and can represent the =rules‘ referred to by Benner (1984). Without a practice model of physical assessment students are likely to be uncertain about how to proceed with data collection, the interpretation of paediatric clinical findings and the appraisal of findings. These circumstances can result in ad hoc and unreliable nursing physical assessment that forms a poor basis for nursing decisions. The educational intervention developed as part of this study sought to resolve this problem and support nursing students‘ development of competence in paediatric physical assessment. Methods This study utilised the Context Input Process Product (CIPP) Model by Stufflebeam (2004) as the theoretical framework that underpinned the research design and evaluation methodology. Each of the four elements in the CIPP model were utilised to guide discrete stages of this study. The Context element informed design of the clinical decision-making process, the Paediatric Nursing Physical Assessment model. The Input element was utilised in appraising relevant literature, identifying an appropriate instructional methodology to facilitate learning and educational intervention delivery to undergraduate nursing students, and development of program content (the CD-ROM kit). Study One employed the Process element and used expert panel approaches to review and refine instructional methods, identifying potential barriers to obtaining an effective evaluation outcome. The Product element guided design and implementation of Study Two, which was conducted in two phases. Phase One employed a quasiexperimental between-subjects methodology to evaluate the impact of the educational intervention on nursing students‘ clinical performance and selfappraisal of practices in paediatric physical assessment. Phase Two employed a thematic analysis and explored the experiences and perspectives of a sample subgroup of nursing students who used the PNPA CD-ROM kit as preparation for paediatric clinical placement. Results Results from the Process review in Study One indicated that the prototype CDROM kit containing the PNPA model met the predetermined benchmarks for face validity and the impact evaluation instrumentation had adequate content validity in comparison with predetermined benchmarks. In the first phase of Study Two the educational intervention did not result in statistically significant differences in measures of student performance or self-appraisal of practice. However, in Phase Two qualitative commentary from students, and from the expert panel who reviewed the prototype CD-ROM kit (Study One, Phase One), strongly endorsed the quality of the intervention and its potential for supporting learning. This raises questions regarding transfer of learning and it is likely that, within this study, several factors have influenced students‘ transfer of learning from the educational intervention to the clinical practice environment, where outcomes were measured. Conclusion In summary, the educational intervention employed in this study provides insights into the potential e-learning approaches offer for delivering authentic learning experiences to undergraduate nursing students. Findings in this study raise important questions regarding possible pedagogical influences on learning outcomes, issues within the transfer of theory to practice and factors that may have influenced findings within the context of this study. This study makes a unique contribution to nursing education, specifically with respect to progressing an understanding of the challenges faced in employing instructive methods to impact upon nursing students‘ development of competence. The important contribution transfer of learning processes make to students‘ transition into the professional practice context and to their development of competence within the context of speciality practice is also highlighted. This study contributes to a greater awareness of the complexity of translating theoretical learning at undergraduate level into clinical practice, particularly within speciality contexts.

Evaluation of contextual influences on the medication administration practice of paediatric nurses

Aim. This paper is a report of a study conducted to explore the impact of preidentified contextual themes (related to work environment and socialization) on nursing medication practice. Background. Medication administration is a complex aspect of paediatric nursing and an important component of day-to-day nursing practice. Many attempts are being made to improve patient safety, but many errors remain. Identifying and understanding factors that influence medication administration errors are of utmost importance. Method. A cross-sectional survey was conducted with a sample of 278 paediatric nurses from the emergency department, intensive care unit and medical and surgical wards of an Australian tertiary paediatric hospital in 2004. The response rate was 67%. Result. Contextual influences were important in determining how closely medication policy was followed. Completed questionnaires were returned by 185 nurses (67%). Younger nurses aged <34 years thought that their medication administration practice could be influenced by the person with whom they checked the drugs (P = 0·001), and that there were daily circumstances when it was acceptable not to adhere strictly to medication policy (P < 0·001), including choosing between following policy and acting in the best interests of the child (P = 0·002). Senior nurses agreed that senior staff dictate acceptable levels of medication policy adherence through role modelling (P = 0·01). Less experienced nurses reported greater confidence with computer literacy (P < 0·001). Conclusions. Organizations need to employ multidisciplinary education programmes to promote universal understanding of, and adherence to, medication policies. Skill mix should be closely monitored to ensure adequate support for new and junior staff.

Factors influencing paediatric nurses' responses to medication administration

Objective: To evaluate the importance of contextual and policy factors on nurses’ judgment about medication administration practice.---------- Design: A questionnaire survey of responses to a number of factorial vignettes in June 2004. These vignettes considered a combination of seven contextual and policy factors that were thought to influence nurses’ judgments relating to medication administration.---------- Participants: 185 (67% of eligible) clinical paediatric nursing staff returned completed questionnaires.--------- Setting: A tertiary paediatric hospital in Brisbane, Australia.---------- Results: Double checking the patient, double checking the drug and checking the legality of the prescription were the three strongest predictors of nurses’ actions regarding medication administration.--------- Conclusions: Policy factors and not contextual factors drive nurses’ judgment in response to hypothetical scenarios.

Paediatric obesity, physical activity and the musculoskeletal system

The current epidemic of paediatric obesity is consistent with a myriad of health-related comorbid conditions. Despite the higher prevalence of orthopaedic conditions in overweight children, a paucity of published research has considered the influence of these conditions on the ability to undertake physical activity. As physical activity participation is directly related to improvements in physical fitness, skeletal health and metabolic conditions, higher levels of physical activity are encouraged, and exercise is commonly prescribed in the treatment and management of childhood obesity. However, research has not correlated orthopaedic conditions, including the increased joint pain and discomfort that is commonly reported by overweight children, with decreases in physical activity. Research has confirmed that overweight children typically display a slower, more tentative walking pattern with increased forces to the hip, knee and ankle during 'normal' gait. This research, combined with anthropometric data indicating a higher prevalence of musculoskeletal malalignment in overweight children, suggests that such individuals are poorly equipped to undertake certain forms of physical activity. Concomitant increases in obesity and decreases in physical activity level strongly support the need to better understand the musculoskeletal factors associated with the performance of motor tasks by overweight and obese children.

Molecular epidemiology of respiratory viruses in a paediatric cohort from Indonesia

Acute lower respiratory tract infections (ALRTIs) are a common cause of morbidity and mortality among children under 5 years of age and are found worldwide, with pneumonia as the most severe manifestation. Although the incidence of severe disease varies both between individuals and countries, there is still no clear understanding of what causes this variation. Studies of community-acquired pneumonia (CAP) have traditionally not focused on viral causes of disease due to a paucity of diagnostic tools. However, with the emergence of molecular techniques, it is now known that viruses outnumber bacteria as the etiological agents of childhood CAP, especially in children under 2 years of age. The main objective of this study was to investigate viruses contributing to disease severity in cases of childhood ALRTI, using a two year cohort study following 2014 infants and children enrolled in Bandung, Indonesia. A total of 352 nasopharyngeal washes collected from 256 paediatric ALRTI patients were used for analysis. A subset of samples was screened using a novel microarray pathogen detection method that identified respiratory syncytial virus (RSV), human metapneumovirus (hMPV) and human rhinovirus (HRV) in the samples. Real-time RT-PCR was used both for confirming and quantifying viruses found in the nasopharyngeal samples. Viral copy numbers were determined and normalised to the numbers of human cells collected with the use of 18S rRNA. Molecular epidemiology was performed for RSV A and hMPV using sequences to the glycoprotein gene and nucleoprotein gene respectively, to determine genotypes circulating in this Indonesian paediatric cohort. This study found that HRV (119/352; 33.8%) was the most common virus detected as the cause of respiratory tract infections in this cohort, followed by the viral pathogens RSV A (73/352; 20.7%), hMPV (30/352; 8.5%) and RSV B (12/352; 3.4%). Co-infections of more than two viruses were detected in 31 episodes (defined as an infection which occurred more than two weeks apart), accounting for 8.8% of the 352 samples tested or 15.4% of the 201 episodes with at least one virus detected. RSV A genotypes circulating in this population were predominantly GA2, GA5 and GA7, while hMPV genotypes circulating were mainly A2a (27/30; 90.0%), B2 (2/30; 6.7%) and A1 (1/30; 3.3%). This study found no evidence of disease severity associated either with a specific virus or viral strain, or with viral load. However, this study did find a significant association with co-infection of RSV A and HRV with severe disease (P = 0.006), suggesting that this may be a novel cause of severe disease.

Paediatric spinal deformity research at the Mater Children's Hospital, Brisbane, Australia.

The Paediatric Spine Research group was formed in 2002 to perform high quality research into the prevention and management of spinal deformity, with an emphasis on scoliosis. The group has successfully built collaborative bridges between the scientific and research expertise at QUT, and the clinical skills and experience of the spinal orthopaedic surgeons at the Mater Children’s Hospital in Brisbane. Clinical and biomechanical research is now possible as a result of the development of detailed databases of patients who have innovative and unique surgical interventions for spinal deformity such as thoracoscopic scoliosis correction, thoracoscopic staple insertion for juvenile idiopathic scoliosis and minimally invasive growing rods. The Mater in Brisbane provides these unique datasets of spinal deformity surgery patients, whose procedures are not being performed anywhere else in the Southern Hemisphere. The most detailed is a database of thoracoscopic scoliosis correction surgery which now contains 180 patients with electronic collections of X-Rays, photographs and patient questionnaires. With ethics approval, a subset of these patients has had CT scans, and a further subset have had MRI scans with and without a compressive load to simulate the erect standing position. This database has to date contributed to 17 international refereed journal papers, a further 7 journal papers either under review or in final preparation, 53 national conference presentations and 35 international conference presentations. Major findings from selected journal publications will be presented. It is anticipated that as the surgical databases grow they will continue to provide invaluable clinical data which will feed into clinically relevant projects driven by both medical and engineering researchers whose findings will benefit spinal deformity patients and scientific knowledge worldwide.

Laser doppler imaging in a paediatric burns population

Objective Laser Doppler imaging (LDI) was compared to wound outcomes in children's burns, to determine if the technology could be used to predict these outcomes. Methods Forty-eight patients with a total of 85 burns were included in the study. Patient median age was 4 years 10 months and scans were taken 0–186 h post-burn using the fast, low-resolution setting on the Moor LDI2 laser Doppler imager. Wounds were managed by standard practice, without taking into account the scan results. Time until complete re-epithelialisation and whether or not grafting and scar management were required were recorded for each wound. If wounds were treated with Silvazine™ or Acticoat™ prior to the scan, this was also recorded. Results The predominant colour of the scan was found to be significantly related to the re-epithelialisation, grafting and scar management outcomes and could be used to predict those outcomes. The prior use of Acticoat™ did not affect the scan relationship to outcomes, however, the use of Silvazine™ did complicate the relationship for light blue and green scanned partial thickness wounds. Scans taken within the 24-h window after-burn also appeared to be accurate predictors of wound outcome. Conclusion Laser Doppler imaging is accurate and effective in a paediatric population with a low-resolution fast-scan.

Investigating the cost-effectiveness of video telephone based support for newly diagnosed paediatric oncology patients and their families: design of a randomised controlled trial

Background Providing ongoing family centred support is an integral part of childhood cancer care. For families living in regional and remote areas, opportunities to receive specialist support are limited by the availability of health care professionals and accessibility, which is often reduced due to distance, time, cost and transport. The primary aim of this work is to investigate the cost-effectiveness of videotelephony to support regional and remote families returning home for the first time with a child newly diagnosed with cancer Methods/design We will recruit 162 paediatric oncology patients and their families to a single centre randomised controlled trial. Patients from regional and remote areas, classified by Accessibility/Remoteness Index of Australia (ARIA+) greater than 0.2, will be randomised to a videotelephone support intervention or a usual support control group. Metropolitan families (ARIA+ ≤ 0.2) will be recruited as an additional usual support control group. Families allocated to the videotelephone support intervention will have access to usual support plus education, communication, counselling and monitoring with specialist multidisciplinary team members via a videotelephone service for a 12-week period following first discharge home. Families in the usual support control group will receive standard care i.e., specialist multidisciplinary team members provide support either face-to-face during inpatient stays, outpatient clinic visits or home visits, or via telephone for families who live far away from the hospital. The primary outcome measure is parental health related quality of life as measured using the Medical Outcome Survey (MOS) Short Form SF-12 measured at baseline, 4 weeks, 8 weeks and 12 weeks. The secondary outcome measures are: parental informational and emotional support; parental perceived stress, parent reported patient quality of life and parent reported sibling quality of life, parental satisfaction with care, cost of providing improved support, health care utilisation and financial burden for families. Discussion This investigation will establish the feasibility, acceptability and cost-effectiveness of using videotelephony to improve the clinical and psychosocial support provided to regional and remote paediatric oncology patients and their families.

Knowledge and attitudes of paediatric nurses related to breastfeeding

Introduction: Almost 90% of Australian mothers are exclusively breastfeeding when they discharge from maternity hospitals but by six months of age breastfeeding infants have reduced to 32% nationally and 19% in Queensland, far below the national target of 80%. Many factors influence the choice to breastfeed, including health care provision, therefore the knowledge and attitudes of paediatric nurses have the potential to affect breastfeeding duration. Aims: To assess current breastfeeding knowledge and attitudes of paediatric nurses in metropolitan and regional Queensland settings. Method: The study used a cross-sectional survey design. The tool was developed from several documented health professional questionnaires about breastfeeding, with permission from authors. Survey items relating breastfeeding physiology, factors relating to breastfeeding success, and local, national and international policies were also included. Ethics approval was granted from the appropriate Ethics Committees to conduct the survey through tertiary metropolitan and regional hospital settings. Results: A total of 241 surveys were returned, achieving a response rate of 53%. Nurses acknowledged breastmilk as the best source of nutrition for infants (99%, n=238) and that mothers should be encouraged to breastfeed (92%, n=221). However, many respondents considered infant formula a nutritional equivalent (44%, n=105) and (47%, n=113) were unaware that supplemental formulas interfered with successful breastfeeding. Most nurses recognised that stress (e.g. infant hospitalisation) impacts on the success of breastfeeding (90%, n=216). Knowledge of breastfeeding anatomy and physiology was poor and a substantial number of nurses did not identify correct attachment in response to two diagrammatic representations (76%, n=183 and 45%, n=109). Survey results demonstrated deficiencies in knowledge that would impact on support provided to breastfeeding mothers. Knowledge deficits were also identified relating to local, national and international policies and protocols concerning breastfeeding and breastmilk substitutes. Conclusion: Breastfeeding knowledge and attitudes were exceptional in areas related to general breastfeeding knowledge. However, in areas directly related to nursing practice, considerable deficits in paediatric nurses' knowledge and attitudes were identified. Lack of appropriate skills, knowledge and varying attitudes amongst paediatric nurses has the potential to negatively impact on the education, advice and support provided to breastfeeding mothers and their families whilst their infant is in hospital. These study findings will guide future research and strategies to improve knowledge and policy statements to assist paediatric nurses in fulfilling their role.