Helen Goodyear

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation.

Randomised controlled study of early pulsed dye laser treatment of uncomplicated childhood haemangiomas: results of a 1-year analysis

INTRODUCTION The role of pulsed dye lasers (PDL) in the treatment of childhood haemangiomas is controversial. Our aim was to compare treatment with PDL with a wait-and-see policy. METHODS We did a prospective, randomised controlled trial in which we enrolled 121 infants aged 1-14 weeks with early haemangiomas. We assigned infants to PDL treatment (n=60) or observation (n=61), and followed them up to age 1 year. The main outcome measures assessed were proportion of lesions completely clear or with minimum residual signs, adverse reactions, including pigmentary disturbance and skin atrophy, complications such as ulceration and infection, proportion of children whose parents considered the haemangioma a problem, characteristics of the haemangioma, and an independent assessment of the haemangioma problem by a panel of five parents. Analysis was by intention to treat. FINDINGS All infants completed the study. The number of children whose lesions showed complete clearance or minimum residual signs at 1 year was not significantly different in the PDL treated and observation groups (25, 42%, vs 27, 44%; p=0.92). However, PDL treated infants were more likely to have skin atrophy (17, 28%, vs 5, 8%; p=0.008) and hypopigmentation (27, 45%, vs 9, 15%; p=0.001). The frequency of complications was similar between groups. The only objective measure of resolution that improved with PDL treatment was haemangioma redness. The number of children whose parents considered the haemangioma to be a problem at 1 year did not differ much between groups (11 of 60, 18%, vs 9 of 61, 15%; p=0.78). The independent parent panel validated this result. INTERPRETATION PDL treatment in uncomplicated haemangiomas is no better than a wait-and-see policy.

Trainee doctors’ views on workplace-based assessments: Are they just a tick box exercise?

Background: In August 2007, run-through specialty training and workplace-based assessments (WBAs) were introduced for UK junior doctors. Aim: This study explores whether WBAs have been successfully integrated into paediatric training programmes. Method: A 20-item questionnaire was distributed to regional paediatric trainees. Results: Eighty seven per cent (130/150) trainees responded. Reliability of the study was good (Cronbachs alpha 0.813); 92% (119/130) trainees knew how to conduct WBAs (scoring ≥4 on the six-point Likert scale). However, they were ambivalent about WBAs being a true reflection of their capabilities (mean Likert score 3.46). A common problem was finding assessors with 40% of trainees stating that staff had refused to do assessments. Almost half of the assessments were done retrospectively. Trainees did receive feedback but advice on future improvement was not always given (highest mean Likert score 4.00). Free text comments analysis mostly centred on difficulties in getting WBAs done. Conclusions: A cultural change is needed for trainees to feel that WBAs are not just a tick box exercise, but a useful educational tool for learning. Ongoing work on implementation needs to include additional training, especially on the value of WBAs for formative assessment and consultants having protected time in their job plans for training.

Diaper Dermatitis-Frequency and Contributory Factors in Hospital Attending Children

Abstract:  The incidence and prevalence of diaper dermatitis varies widely between published studies. It is a condition which causes considerable parental anxiety. To better understand the frequency of diaper dermatitis, treatment practices, and the current importance of previously identified etiologic factors, a questionnaire survey of parents who had children wearing diapers (n = 532) attending a large United Kingdom district general hospital was undertaken. At the time of survey, only 16% of the study population had diaper dermatitis. Forty‐eight percent of the study population had never had an episode of diaper dermatitis. In a multivariate analysis, current diaper dermatitis was independently associated with four factors: presence of oral thrush, number of previous episodes, frequency of diaper changes, and diarrhea. Recurrent episodes of diaper dermatitis were associated with increasing age, lack of barrier cream use, current diaper rash, and frequency of diaper changes. In the majority of children with diaper dermatitis at the time of survey, treatment had been instituted in the community. Diaper dermatitis usually presents and is treated successfully outside the hospital setting and is not a common clinical problem in secondary care.

Multiple mini-interviews: opinions of candidates and interviewers.

Objectives  To assess candidates’ and interviewers’ perceptions of the use of a multiple mini‐interview (MMI) for selection of senior house officers (SHOs) to a UK regional paediatric training programme.

DOPS assessment: A study to evaluate the experience and opinions of trainees and assessors

Background: Workplace based assessments (WBAs) have been part of UK training for the last 3 years. Carrying out procedures efficiently and safely is of paramount importance in anaesthesia. Aims: To explore opinions and experiences of Direct Observation of Procedural Skills (DOPS) assessments in a regional anaesthetic training programme. Methods: 19 and 20-item questionnaires were distributed to trainees and consultants respectively. Results: Questionnaire response rate was 76% (90/119) for trainees and 65% (129/199) for consultants. 43% of consultants and 33% of trainees were not trained in DOPS use. Assessments were usually not planned. 50% were ad hoc and the remainder mainly retrospective. Time spent on assessment was short with DOPS and feedback achieved in ≤15 minutes in the majority of cases with lack of suggestions for further improvement. Both trainees and consultants felt that DOPS was not a helpful learning tool (p = 0.001) or a reflection of trainee competency. Conclusions: DOPS assessments are currently not valued as an educational tool. Training is essential in use of this WBA tool which needs to be planned and sufficient time allocated so as to address current negative attitudes.

Performance of paediatric Senior House Officers following changes in recruitment

Background: Recruitment to Paediatric Senior House Officer (SHO) posts has traditionally been undertaken by each individual hospital trust. Aims: This study looks at whether shortlisting and interview scores from a Central Paediatric SHO recruitment process are a reliable predicator of performance. Methods: A questionnaire was completed by educational supervisors including 11 Likert questions with a scale from 1 (strongly disagree) to 6 (strongly agree) 3 months into the SHOs posts. Results: There was a 61% (54/88) response rate. Overall performance of trainees was good with mean scores for the Likert questions ranging from 4.4 to 4.91. There was a highly significant correlation between the interview scores and educational supervisors assessment of communication skills at 3 months (p = 0.007) but not with shortlisting scores. Personal and clinical skills and career planning showed a weakly positive correlation with both the shortlisting and interview scores. Conclusion: These results suggest suitable candidates are being selected but longer term follow up is needed to monitor the progress of these trainees through to a certificate of completion of training in Paediatrics.

How useful are structured electronic portfolio templates to encourage reflective practice

Background: Some specialties in the UK use structured templates in electronic (e) Portfolios to encourage reflective practice. This study looked at completion of an 11-field template by UK Paediatric specialty trainees. Methods: A reflective ePortfolio log from all Paediatric specialty trainees in one large UK deanery was assessed by two medical educators. The consultant supervisors’ opinion of the trainees standard of reflective practice and outcome of annual review of competence progression was noted. Results: If the 115 trainees, 10 had no reflective logs and 105 had reflective logs ranging in number from 1 to −18 (mean of 5). The structured template was poorly completed by trainees especially sections on what could be done differently and outcomes for the trainee, parents and others. Discrepancy between the evidence of reflection in ePortfolio and trainers assessment of reflective practice was noted. Conclusion: An 11-field structured template for reflective practice was not completed well. We suggest four fields as a maximum so as to enable trainees to reflect and note their personal key learning points. There needs to be an emphasis on quality rather than quantity of ePortfolio reflective logs, both in number and length of log aiming for 1–2 well completed reflections per post.

Reliability of a regional junior doctor recruitment process.

Introduction: Recruitment to Paediatric Senior House Officer (SHO) posts has traditionally been undertaken by each individual hospital trust. This study looks at a regional recruitment process. Methods: Shortlisting was carried out in a single day marking application forms according to set criteria. A 3 station interview was used. Results: Reliability for both shortlisting and interviews was high (G co-efficients ≥0.8). Discussion: This regional recruitment process for SHOs showed high reliability and is a model applicable to all specialties.

Reliability of multi-station interviews in selection of junior doctors for specialty training

Background: Interviews for junior doctor training posts in the UK are considered high stakes assessments following the introduction of Modernizing Medical Careers. Aims: To examine the reliability of paediatric recruitment in our Deanery for specialty training (ST) in 2008. Methods: A total of 225 candidates were interviewed for 88 posts. There were three interview stations (presentation, structured interview and communication) each lasting for 10 min. Two interviewers independently marked candidates at each station on a 5 point Likert scale. Interview scores were analysed to evaluate reliability. Results: Reliability for ST1 interviews was excellent, reasonable for ST2 and ST3 and poor for ST4 (Cronbachs alpha of 0.908, 0.749, 0.759 and 0.648). Generalizability coefficient was good for ST1 interviews (>0.8) but for ST2–ST4 interviews was below acceptable (<0.8). Decision (D) study calculations showed up to 26 stations that were required to achieve minimum reliability. Conclusions: This three station interview process was not reliable enough for a high stakes assessment. An increased number of stations are required to improve reliability. Further work is required to clarify the optimum number of stations to achieve minimum reliability and feasibility.