• Pediatric Weight Management Through mHealth Compared to Face-to-Face Care: Cost Analysis of a Randomized Control Trial.

      Tully, Louise; Sorensen, Jan; O'Malley, Grace; Obesity Research and Care Group, Division of Population Health Sciences, School of Physiotherapy, Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland. 2Healthcare Outcomes Research Centre, Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland. 3W82GO Child and Adolescent Weight Management Service, Children's Health Ireland at Temple Street, Dublin, Ireland. #Contributed equally. (JMIR Publications, 2021-09-14)
      Background: Mobile health (mHealth) may improve pediatric weight management capacity and the geographical reach of services, and overcome barriers to attending physical appointments using ubiquitous devices such as smartphones and tablets. This field remains an emerging research area with some evidence of its effectiveness; however, there is a scarcity of literature describing economic evaluations of mHealth interventions. Objective: We aimed to assess the economic viability of using an mHealth approach as an alternative to standard multidisciplinary care by evaluating the direct costs incurred within treatment arms during a noninferiority randomized controlled trial (RCT). Methods: A digitally delivered (via a smartphone app) maintenance phase of a pediatric weight management program was developed iteratively with patients and families using evidence-based approaches. We undertook a microcosting exercise and budget impact analysis to assess the costs of delivery from the perspective of the publicly funded health care system. Resource use was analyzed alongside the RCT, and we estimated the costs associated with the staff time and resources for service delivery per participant. Results: In total, 109 adolescents participated in the trial, and 84 participants completed the trial (25 withdrew from the trial). We estimated the mean direct cost per adolescent attending usual care at €142 (SD 23.7), whereas the cost per adolescent in the mHealth group was €722 (SD 221.1), with variations depending on the number of weeks of treatment completion. The conversion rate for the reference year 2013 was $1=€0.7525. The costs incurred for those who withdrew from the study ranged from €35 to €681, depending on the point of dropout and study arm. The main driver of the costs in the mHealth arm was the need for health professional monitoring and support for patients on a weekly basis. The budget impact for offering the mHealth intervention to all newly referred patients in a 1-year period was estimated at €59,046 using the assessed approach. Conclusions: This mHealth approach was substantially more expensive than usual care, although modifications to the intervention may offer opportunities to reduce the mHealth costs. The need for monitoring and support from health care professionals (HCPs) was not eliminated using this delivery model. Further research is needed to explore the cost-effectiveness and economic impact on families and from a wider societal perspective. Trial registration: ClinicalTrials.gov NCT01804855; https://clinicaltrials.gov/ct2/show/NCT01804855.
    • Using genomics to examine the persistence of Streptococcus pneumoniae serotype 19A in Ireland and the emergence of a sub-clade associated with vaccine failures.

      Corcoran, M; Mereckiene, J; Cotter, S; Murchan, S; Lo, S W; McGee, L; Breiman, R F; Cunney, R; Humphreys, H; Bentley, S D; et al. (Elsevier, 2021-07-21)
      Background: Streptococcus pneumoniae serotype 19A remains a significant cause of invasive pneumococcal disease (IPD) in Ireland despite the successful introduction of a 13-valent pneumococcal conjugate vaccine (PCV13) in 2010 which reduced the overall incidence of IPD in children. Methods: Invasive Streptococcus pneumoniae serotype 19A isolates from the Irish reference laboratory between 2007-08 and 2017-18 were analysed using whole genome sequencing (WGS) to investigate the persistence of this vaccine-preventable serotype. We compared the entire national 19A collection to other international collections using a standardised nomenclature of Global Pneumococcal Sequencing Clusters (GPSC). Results: Expansion of GPSCs and clonal complexes (CCs) may have been associated with vaccine introduction and antimicrobial prescribing policies. A sub-clade of GPSC1-CC320 (n = 25) unique to Ireland, included five of the ten vaccine failures/breakthrough cases identified (p = 0.0086). This sub-clade was not observed in a global GPSC1-CC320 collection. All isolates within the sub-clade (n = 25) contained a galE gene variant rarely observed in a global pneumococcal collection (n = 37/13454, p < 0.001) nor within GPSC1-CC320 (n = 19/227) (p < 0.001). The sub-clade was estimated to have emerged at the start of the PCV-vaccine era (ancestral origin 2000, range 1995-2004) and expanded in Ireland, with most isolated after PCV13 introduction (n = 24/25). Conclusions: The identification of a sub-clade/variant of serotype 19A highlights the benefit of using WGS to analyse genotypes associated with persistence of a preventable serotype of S. pneumoniae. Particularly as this sub-clade identified was more likely to be associated with IPD in vaccinated children than other 19A genotypes. It is possible that changes to the galE gene, which is involved in capsule production but outside of the capsular polysaccharide biosynthesis locus, may affect bacterial persistence within the population. Discrete changes associated with vaccine-serotype persistence should be further investigated and may inform vaccine strategies.
    • Barriers and Facilitators for Implementing Paediatric Telemedicine: Rapid Review of User Perspectives.

      Tully, Louise; Case, Lucinda; Arthurs, Niamh; Sorensen, Jan; Marcin, James P; O'Malley, Grace; Obesity Research and Care Group, School of Physiotherapy, RCSI University of Medicine and Health Sciences, Dublin, Ireland. 2W82GO Child and Adolescent Weight Management Service, Children's Health Ireland at Temple Street, Dublin, Ireland. 3Healthcare Outcomes Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland. 4Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA, United States. (Open Access Frontiers, 2021-03-17)
      Background: COVID-19 has brought to the fore an urgent need for secure information and communication technology (ICT) supported healthcare delivery, as the pertinence of infection control and social distancing continues. Telemedicine for paediatric care warrants special consideration around logistics, consent and assent, child welfare and communication that may differ to adult services. There is no systematic evidence synthesis available that outlines the implementation issues for incorporating telemedicine to paediatric services generally, or how users perceive these issues. Methods: We conducted a rapid mixed-methods evidence synthesis to identify barriers, facilitators, and documented stakeholder experiences of implementing paediatric telemedicine, to inform the pandemic response. A systematic search was undertaken by a research librarian in MEDLINE for relevant studies. All identified records were blind double-screened by two reviewers. Implementation-related data were extracted, and studies quality appraised using the Mixed-Methods Appraisal Tool. Qualitative findings were analysed thematically and then mapped to the Consolidated Framework for Implementation Research. Quantitative findings about barriers and facilitators for implementation were narratively synthesised. Results: We identified 27 eligible studies (19 quantitative; 5 mixed-methods, 3 qualitative). Important challenges highlighted from the perspective of the healthcare providers included issues with ICT proficiency, lack of confidence in the quality/reliability of the technology, connectivity issues, concerns around legal issues, increased administrative burden and/or fear of inability to conduct thorough examinations with reliance on subjective descriptions. Facilitators included clear dissemination of the aims of ICT services, involvement of staff throughout planning and implementation, sufficient training, and cultivation of telemedicine champions. Families often expressed preference for in-person visits but those who had tried tele-consultations, lived far from clinics, or perceived increased convenience with technology considered telemedicine more favourably. Concerns from parents included the responsibility of describing their child's condition in the absence of an in-person examination. Discussion: Healthcare providers and families who have experienced tele-consultations generally report high satisfaction and usability for such services. The use of ICT to facilitate paediatric healthcare consultations is feasible for certain clinical encounters and can work well with appropriate planning and quality facilities in place.
    • A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland.

      Gunne, Emer; McGarvey, Cliona; Hamilton, Karina; Treacy, Eileen; Lambert, Deborah M; Lynch, Sally Ann; Children's Health Ireland, Temple Street, Dublin, Republic of Ireland. (2020-11-04)
      Aims: To ascertain the number of paediatric deaths (0-14 years) with an underlying rare disease in the Republic of Ireland between the years 2006-2016, and to analyse bed usage by a paediatric cohort of rare disease inpatients prior to in-hospital death. Background: Rare diseases are often chronically debilitating and sometimes life-threatening diseases, with the majority (69.9%) of rare diseases being of paediatric onset. The Orphanet database contains information on 6172 unique rare diseases. Under-representation of rare diseases in hospital healthcare coding systems leads to a paucity of rare disease epidemiological data required for healthcare planning. Studies have cited variable incidence rates for rare disease, however the burden of rare diseases to healthcare services still remains unclear. This study represents a thorough effort to identify the percentage of child mortality and paediatric bed usage attributable to rare diseases in the Republic of Ireland, thus addressing a major gap in the rare disease field. Methods: Retrospective analysis of paediatric death registration details for the Republic of Ireland in the 11-year period 2006-2016 from the National Paediatric Mortality Register. Data was subcategorised as Neonatal (0-28 days), Post Neonatal (29 days < 1 year) and older (1-14 years). Bed usage data (ICD-10 code, narrative and usage) of paediatric inpatients who died during hospitalisation from January 2015 to December 2016 was extracted from the National Quality Assurance Improvement System of in-patient data. Orphacodes were assigned to rare disease cases from ICD-10 codes or diagnostic narrative of both datasets. Results: There were 4044 deaths registered from 2006-2016, aged < 15 years, of these 2368 (58.6%) had an underlying rare disease. Stratifying by age group; 55.6% (1140/2050) of neonatal deaths had a rare disease, 57.8% (450/778) post-neonatal, and 64% (778/1216) of children aged 1-14 years. Mortality coding using ICD-10 codes identified 42% of rare disease cases with the remainder identified using death certificate narrative records. Rare disease patients occupied 87% of bed days used by children < 15 years who died during hospitalisation from January 2015 to December 2016. Conclusion: Additional routine rare disease coding is necessary to identify rare diseases within Irish healthcare systems to enable better healthcare planning. Rare disease patients are overrepresented in paediatric mortality statistics and in-patient length of stay during hospital admission prior to death.
    • Storytelling and poetry in the time of coronavirus.

      Barrett, Elizabeth; Dickson, Melissa; Hayes-Brady, Clare; Wheelock, Harriet (2020-05-14)
      The coronavirus crisis occurs at a time when many clinicians have already experienced burnout. One in three Irish doctors were suffering from burnout in the 2019 National Study of Wellbeing of Hospital Doctors in Ireland; rates are also high in Irish Psychiatry. We present a perspective on the use of narrative in medicine and recognise that storytelling, and the patient history are very much at the heart of medicine. Clinician storytelling, such as Schwartz Rounds and Balint group work, has very much come to the fore in Irish Psychiatry and in training. Projects such as MindReading have explored overlaps between clinicians, humanities experts and experts by experience. We give an overview of some approaches from the movement around narrative in medicine to bolster this. We explore why clinicians write as ways to support identification, catharsis and a way to process experiences. Clinicians and patients may also use literature and poetry to promote coping. The historical context and practical strategies are highlighted, particularly with reference to poetry use during the current crisis.
    • Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

      Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; et al. (2020-03-23)
      An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

      Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; et al. (2020-01-17)
      Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. Results: The consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. Conclusion: KMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.
    • Research Output from the Irish Paediatric Hospitals in the Field of Anaesthesia and Intensive Care Over 10 Years: A Bibliometric Analysis.

      Alkhatip, Ahmed Abdelaal Ahmed Mahmoud M; Younis, Mohamed; Holmes, Chris; Sallam, Amr (2019-10-22)
      Objective: To the best of our knowledge, no bibliometric studies have characterised the paediatric anaesthesia research in Ireland. In this study, we aim to analyse the research output from two anaesthetic departments in Irish paediatric hospitals. Methods: A Scopus database search was conducted to identify the publications from 2007 to 2018 of the departments of anaesthesia and intensive care medicine in the Children's University Hospital, Temple Street (CUH), and Our Lady's Children's Hospital, Crumlin (OLCHC). Results: The Irish publications in paediatric anaesthesia and intensive care included 108 publications. CUH and OLCHC published 37 (34.9%) and 73 (68.8%) documents, respectively, with 6 (5.6%) documents affiliated with both hospitals. The number of original research articles was 28 (75.7%) for CUH versus 46 (63%) for OLCHC. The number of published reviews was 5 (13.5%) for CUH versus 11 (15.1%) for OLCHC. Over the last 2 years (2016, 2017), the number of OLCHC publications was almost double (13 and 14 publications) that of CUH (4 and 6 publications). For CUH, only two publications were in specialised journals. For OLCHC, 18 publications were in specialised journals, in addition to four publications in high-ranked journals. The mean impact factor for CUH publications was 3.78 (standard deviation [SD], 7.19) versus 4.52 (SD, 10.56) for OLCHC. From OLCHC, 20 authors published with a median h-index of 2.00 (interquartile range, 0-4.25), versus 14 authors form CUH with a median h-index of 1.50 (1.00-4.50).
    • Key Performance Indicators in Paediatric Anaesthesia

      Doody, K; Barry, D; Holmes, C (Irish Medical Journal, 2019-07)
      Currently no national guidelines on performance measurement exist for paediatric anaesthesia in Ireland1. The purpose of this study was to ascertain if we are achieving Key Performance Indicators (KPIs) in areas of post-operative nausea and vomiting (PONV) and post-operative pain when compared to international standards.
    • Caring for Caregivers: An Evaluation of Schwartz Rounds in a Paediatric Setting

      Silke, A; Rushe, H; Keating, K; Thurstan, R; Barrett, E (Irish Medical Journal, 2019-06)
      Schwartz rounds (SR) are a multi-disciplinary intervention that aim to support clinical and non-clinical healthcare professionals in their work. Temple Street Children’s University Hospital (TSCUH) is the first paediatric hospital to introduce SR. SR are a popular intervention, with numerous sites adopting them in the US and the UK. First introduced in Ireland in 2015, they were piloted at sites in Galway University Hospital and Blackrock Hospice. SR have since spread to 15 other sites across Ireland, including regional hospitals, children’s hospices and ambulance services. 2 Only one paper has been published on the topic of SR in paediatric hospitals. This paper hopes to highlight the potential for SR in the paediatric context by evaluating the views of staff who attended SR at TSCUH.
    • Primary External Ventricular Drains in the Management of Open Myelomeningocele Repairs in the Neonatal Setting in Ireland

      Finnegan, R; Kehoe, J; McMahon, O; Donoghue, V; Crimmins, D; Caird, J; Murphy, J (Irish Medical Journal, 2019-05)
      The aim of this study is to outline the role of primary external ventricular drains (EVD) in the management of open myelomeningoceles in the neonatal setting in Ireland.
    • Is It Time To Review The Vaccination Strategy To Protect Adults Against Invasive Pneumococcal Disease?

      Corcoran, M; Mereckiene, J; Murchan, S; McElligott, M; O’Flanagan, D; Cotter, S; Cunney, R; Humphreys, H (Irish Medical Journal, 2019-03)
      Pneumococcal conjugate vaccines (PCVs) have reduced the predominant serotypes causing invasive pneumococcal disease (IPD). We assessed the impact of the paediatric 7- and 13-valent pneumococcal conjugate vaccines (PCV7 and PCV13) among older adults. We compared serotype-specific incidence rates from 2007/08 to 2016/17, expressed as incidence rate ratios (IRR). Introducing PCV7 and PCV13 into the childhood immunisation programme resulted in a decline in these serotypes in adults ≥65 years of age, with PCV7 serotypes decreasing by 85% (IRR=0.11, 95%CI: 0.05-0.22, p<0.0001) and PCV13 serotypes not included in PCV7 (PCV13-7), decreasing by 9% (IRR=0.68, 95%CI: 0.40-1.16, p=0.134). However, there was a significant increase in serotypes only found in the 23-valent polysaccharide vaccine, PPV23-PCV13: IRR=2.57, 95%CI: 1.68-4.03, p<0.0001, and non-vaccine types (NVTs), IRR=3.33, 95%CI: 1.75-6.84, p=0.0001. The decline of IPD associated with PCV7/13 serotypes and the increase in PPV23-PCV13 serotypes indicates clear serotype replacement. Increasing PPV23 uptake could still reduce the burden of disease for this population.
    • cgMLST characterisation of invasive Neisseria meningitidis serogroup C and W strains associated with increasing disease incidence in the Republic of Ireland.

      Mulhall, Robert M; Bennett, Desiree E; Bratcher, Holly B; Jolley, Keith A; Bray, James E; O'Lorcain, Piaras P; Cotter, Suzanne M; Maiden, Martin C J; Cunney, Robert J (2019-01-01)
      Since 2013 MenC and MenW disease incidence and associated mortality rates have increased in the Republic of Ireland. From 2002/2003 to 2012/2013, the average annual MenC incidence was 0.08/100,000, which increased to 0.34/100,000 during 2013/2014 to 2017/18, peaking in 2016/17 (0.72/100,000) with an associated case fatality rate (CFR) of 14.7%. MenW disease incidence has increased each year from 0.02/100,000 in 2013/2014, to 0.29/100,000 in 2017/18, with an associated CFR of 28.6%. We aimed to characterise and relate recent MenC isolates to the previously prevalent MenC:cc11 ET-15 clones, and also characterise and relate recent MenW isolates to the novel 'Hajj' clones.
    • Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

      Giva, S; Finnegan, J; Ihidero, P; Maguire, G; Power, B; Knerr, I; Monavari, A (Irish Medical Journal, 2019-01)
      Hyperammonaemia is a metabolic disturbance characterized by accumulation of ammonia in the blood. Entry of ammonia into the brain via the blood-brain barrier leads to hyperammonaemic encephalopathy. The causes of hyperammonaemia in paediatric patients vary. We present 3 cases of hyperammonaemia in critically ill children in whom an inborn metabolic disorder was identified and provide insights into the phenotypes, diagnostic approaches and management. In children with acute overwhelming illness and progressive neurological deterioration plasma ammonia measurement should be included in the urgent diagnostic work-up. We here raise the awareness that hyperammonaemia is a metabolic emergency requiring prompt recognition and treatment to avoid subsequent complications.
    • Enterovirus and parechovirus meningitis in infants younger than 90 days old in the UK and Republic of Ireland: a British Paediatric Surveillance Unit study.

      Kadambari, Seilesh; Braccio, Serena; Ribeiro, Sonia; Allen, David J; Pebody, Richard; Brown, David; Cunney, Robert; Sharland, Mike; Ladhani, Shamez (2018-12-08)
      Objectives: This study aimed to prospectively collect detailed clinical information for all enterovirus (EV) and human parechovirus (HPeV) meningitis cases in infants aged <90 days in the UK and Ireland. Participants, design and setting: Prospective, active national surveillance during July 2014 to July 2015 through the British Paediatric Surveillance Unit. Reporting paediatricians completed questionnaires requesting information on clinical presentation, investigations, management and outcomes at hospital discharge and after 12 months. Main outcome measures: To describe the clinical burden of EV and HPeV meningitis in infants aged <90 days. Results: During the 13-month surveillance period, 703 cases (668 EV, incidence0.79/1,000 live- births; 35 HPeV, 0.04/1,000 live-births) were identified. The most common clinical presentations were fever (EV: 570/668(85%); HPeV: 28/35(80%)), irritability (EV: 441/668(66%); HPeV: 23/35(66%)) and reduced feeding (EV: 363/668(54%); HPeV 23/35(66%)). Features of circulatory shock were present in 27% (182/668) of EV and 43% (15/35) of HPeV cases. Overall, 11% (76/668) of EV and 23% (8/35) of HPeV cases required intensive care support. Nearly all cases (678/703, 96%) were confirmed by cerebrospinal fluid (CSF) PCR, with 52% (309/600) having normal CSF white cell count for age. Two infants with EV meningitis died (2/668, 0.3%) and four survivors (4/666, 0.6%) had long-term complications at 12 months' follow-up. Infants with HPeV meningitis survived without sequelae. Overall 189 infants had a formal hearing test and none had sensorineural hearing loss. Conclusion: The incidence of laboratory-confirmed EV/HPeV meningitis in young infants is more than twice that for bacterial meningitis. Less than 1% will develop severe neurological complications or die of their infection. Further studies are required to formally assess long-term neurodevelopmental sequelae.
    • Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

      Verheije, Rosalind; Kupchik, Gabriel S; Isidor, Bertrand; Kroes, Hester Y; Lynch, Sally Ann; Hawkes, Lara; Hempel, Maja; Gelb, Bruce D; Ghoumid, Jamal; D'Amours, Guylaine; et al. (2018-10-05)
      Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients). All but one de novo MEIS2 variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2 in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2 results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype-phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.
    • Potential Coverage of the 4CMenB Vaccine against Invasive Serogroup B Isolated from 2009 to 2013 in the Republic of Ireland.

      Mulhall, Robert M; Bennett, Desiree; Cunney, Robert; Borrow, Ray; Lucidarme, Jay; Findlow, Jamie; Jolley, Keith A; Bray, James; Maiden, Martin C J; Moschioni, Monica; et al. (2018-08-22)
      Neisseria meningitidis is a common cause of bacterial meningitis in children and young adults worldwide. The 4CMenB vaccine (Bexsero), developed to combat meningococcal serogroup B (MenB) disease, contains subcapsular antigens that may induce immunity against strains of N. meningitidis, regardless of serogroup. Owing to differential levels of expression and peptide diversity in vaccine antigens across meningococcal strains, the meningococcal antigen typing system (MATS) was developed to estimate the potential MenB strain coverage of 4CMenB. Prior to introducing the 4CMenB vaccine into routine use, we sought to estimate the potential 4CMenB coverage against invasive MenB strains isolated in the Republic of Ireland (RoI) over four consecutive epidemiological years. MATS was applied to a panel of 105 invasive MenB strains isolated during July 2009 to June 2013. Sequence data characterizing the multilocus sequence typing (MLST) alleles and the major 4CMenB target peptides were extracted from isolate genome sequence data, hosted in the Bacterial Isolate Sequencing database (BIGSdb). MATS data indicated that 4CMenB may induce protective immunity against 69.5% (95% confidence interval [CI95%], 64.8% to 84.8%) of circulating MenB strains. Estimated coverage was highest against the most prevalent disease-causing lineage, cc41/44, where the most frequently observed sequence types, ST-154 and ST-41 (21% of isolates, collectively), were typically covered by three antigens. No significant temporal trends were observed. Overall, these data provide a baseline of strain coverage prior to the introduction of 4CMenB and indicate that a decrease in invasive meningococcal disease (IMD) is predicted following the introduction of 4CMenB into the routine infant immunization schedule in the RoI.IMPORTANCE The meningococcal antigen typing system (MATS) is an enzyme-linked immunosorbent assay (ELISA) that measures both the levels of expression and the immune reactivity of the three recombinant 4CMenB antigens. Together with PorA variable-region sequence data, this system provides an estimation of how susceptible MenB isolates are to killing by 4CMenB vaccine-induced antibodies. Assays based on subcapsular antigen phenotype analyses, such as MATS, are important in situations where conventional vaccine coverage estimations are not possible. Subcapsular antigens are typically highly diverse across strains, and vaccine coverage estimations would require unfeasibly large efficacy trials and screening of an exhaustive strain panel for antibody functional activity. Here, MATS was applied to all invasive meningococcal serogroup B (MenB) strains isolated over four consecutive epidemiological years (n = 105) and predicted reasonably high 4CMenB vaccine coverage in the Republic of Ireland.
    • Bringing the Board of Directors on Board with Quality and Safety of Clinical Care

      Temple Street Children’s University Hospital; HSE Quality Improvement Division (Health Service Executive, 2018-08)
      The genesis of this project was about bringing the Temple Street Children’s University Hospital Board of Directors on a journey, which would result in the Board holding the hospital Executive accountable for the quality of clinical care delivered. It was a collaboration between the Board, the Project Team and the HSE Quality Improvement Division. Governing Boards of healthcare organisations are responsible for their organisations’ performance (HSE 2017). Prior to this project Temple Street Children’s University Hospital (TSCUH) Board of Directors received operational information on access, efficiency, human resources and finance indicators through a monthly balanced score card report, while the quality indicators were reported quarterly. Data on the score card were presented using a red, amber and green speedometer with an associated line chart, which demonstrated if the desired target was achieved.
    • Further Reductions in Road-Related Deaths and Injuries in Irish Children

      Garry, E; Donnelly, J; Heffernan, S; Mc Garvey, C; Nicholson, AJ (Irish Medical Journal, 2018-04)
      The aim was to study road-related injuries and fatalities in under 15-year-olds in three time periods (1996-2000, 2004-2008 and 2009 -2013 respectively) to assess whether progress has been made via cross-sectoral efforts (legislation, public awareness campaigns and police enforcement) to reduce this injury toll in Ireland. For road traffic collisions where an injury has occurred, police assistance is required and at the time a detailed CT 68 form is completed by the attending police officer and sent to the Road Safety Authority for analysis. Details regarding the severity of injury, light and road conditions and safety measures such as seat belt or car restraint use, seat position and helmet use if a cyclist is involved are recorded. Injuries were sub-classified as fatalities, serious (detained in hospital, fractures, severe head injury, severe internal injuries or shock requiring treatment) or minor. All data for the three time periods was entered onto an SPSS database. A concerted national campaign re road safety media campaign allied to random breath testing, penalty points for driving offences, on the spot fines for speeding and greater police enforcement took place over the 17-year timeframe and continues to this day. When results were compared between the three cohorts, total injuries dropped from 5928 (1996-2000) to 3903 (2009-2013).Fatal injuries dropped from 163 to 43 with car occupant fatalities fell from 69 to 17 between 1996-2000 and 2009-2013. Serious injuries dropped from 347 in the first cohort to 201 in the third cohort. Minor injuries fell from 5,063 to 3,659 between first and last cohort. Pedestrian injuries dropped from 1719 to 1258 with pedestrian fatalities decreased from 61 (1996-2000) to 21 (2009-2013) and serious pedestrian injuries decreased from 261 down to 129. Cyclist fatalities saw the most significant fall (76%) with a dramatic reduction in fatalities from 25 down to 6. A national road safety campaign, greater police enforcement and a cultural change has seen road-related deaths and injuries in children drop very significantly (by over 70%) over the three time periods (spanning 1996 to 2013) and this campaign should continue.
    • New Frontiers in the Treatment of Spinal Muscular Atrophy

      Power, CL; O’Rourke, DJ (Irish Medical Journal, 2018-03)
      Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, with a current estimated incidence of 1 in 11,000 live births. Although there is a variable phenotype, 60% of patients with SMA have type 1 disease. Typically diagnosed by the age of six months, this severe form of the condition is characterised by progressive weakness and the failure to meet motor milestones. There is an early need for permanent assisted ventilation, without which the median life expectancy is less than two years. Proper maintenance and function of motor neurons in the brainstem and spinal cord is dependent on optimum production of survival motor neuron (SMN) protein. Two genes are responsible for this production: SMN1 and SMN2. SMN1 codes for approximately 90% of SMN protein; homozygous deletion or mutation of this gene results in the clinical presentation of SMA. Copy number variability has been observed with SMN2; those with a higher copy number tend to present with a less severe phenotype. Therefore, increasing the production of SMN protein by SMN2 represents a clear therapeutic approach to SMA.