Research undertaken by staff affiliated to the Children's University Hospital, Temple Street

Recent Submissions

  • Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.

    Purcell, Orla; Coughlan, Aoife; Grant, Tim; McNulty, Jenny; Clark, Anne; Deverell, Deirdre; Mayne, Philip; Hughes, Joanne; Monavari, Ahmad; Knerr, Ina; Crushell, Ellen; Temple St (2017-01-01)
    A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein intakes for HCU and clinical practice varies. Poor growth has been associated with low cystine levels. This retrospective review of 48 Irish pyridoxine nonresponsive HCU patients assessed weight, height, body mass index (BMI), protein intake, and metabolic control up to 18 years at nine set time points. Patients diagnosed through newborn screening (NBS) were compared to late diagnosed (LD) patients. At 18 years the LD group
  • 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.
  • A Cluster of Paediatric Invasive Group A Streptococcal and Chicken Pox Infections

    Ó Maoldomhnaigh, C; Butler, K; Gavin, P (Irish Medical Journal, 2018-03)
    Group A streptococcus (GAS) causes a variety of acute clinical syndromes from pharyngitis and scarlet fever commonly seen in primary care to more severe life-threatening invasive disease. Invasive GAS, categorised into three groups - necrotising fasciitis, streptococcal toxic shock syndrome and sepsis with or without an identifiable source of infection- is a notifiable disease to the Health Protection Surveillance Centre (HPSC)1. Laboratory criteria for a confirmed case require isolation of GAS from a normally sterile site. The HPSC previously reported a marked increase in the incidence of invasive GAS infections from 1.65/100,000 population in 2011 to 3.65/100,000 in 20132. The increased incidence was notable also for a 300% increase in the proportion of invasive GAS cases in children. After a slight decrease in incidence in 20153 (2.3/100000), we noted a cluster of invasive GAS cases referred to the paediatric infectious disease (PID) department of Children’s University Hospital (CUH), Temple Street, in 2016. We sought to further characterise this cluster of paediatric invasive GAS infections.
  • 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.
  • Paediatric Type 2 Diabetes Still Rare in an Irish Tertiary Referral Unit

    Kernan, R; Carroll, A; Mc Grath, N; Mc Donnell, CM; Murphy, NP (Irish Medical Journal, 2018-01)
    While Type 2 Diabetes in childhood has become increasingly prevalent throughout the world, in our service we found that only 2% (7/320) of children and adolescents with diabetes aged < 16 years had type 2 diabetes. All type 2 subjects were overweight or obese and six of seven were non-Caucasian. Mean age at presentation was 12.8 years. Six patients (85%) had complications, most commonly hypertension. Although Type 2 Diabetes in children remains relatively rare in our cohort, identification of these children is important as management differs from Type 1 Diabetes.
  • Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia

    McGrath, T; Cotter, M (Irish Medical Journal, 2018-01)
    We describe the case of a 17-month-old boy with a hypochromic microcytic anaemia, refractory to oral iron treatment. After exclusion of dietary and gastrointestinal causes of iron deficiency, a genetic cause for iron deficiency was confirmed by finding two mutations in the TMPRSS6 gene, consistent with a diagnosis of iron-refractory iron deficiency anaemia (IRIDA).
  • A Review Of Referral Patterns For Sagittal Synostosis In Ireland: 2008-2013

    Berney, M J; McGillivary, A; Caird, J; Murray, D J (Irish Medical Journal, 2018-01)
    Sagittal synostosis (SS) is the commonest form of craniosynostosis. Children with sagittal synostosis in Ireland are treated in the National Paediatric Craniofacial Centre (NPCC) in Temple Street Children’s University Hospital. This retrospective study analysed the correlation between referral patterns to the unit and age at operation. The notes of 81 patients referred over a 5 year period (April 2008 – April 2013) to the NPCC with non-syndromic SS were reviewed and demographics and referral information were recorded. Of 81 patients reviewed, 60 (74%) were referred before 6 months of age, while 21 (26%) had late referrals. Neonatologists referred 100% of infants before 6 months, paediatricians referred 71%, and GPs 64%. Later referral was associated with a more complex referral pathway, including multiple-steps of referral and unnecessary investigations. Improved clinician knowledge and emphasis on the importance of early referral may lead to a reduction in late referrals.
  • Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders

    Smith, A; Mannion, M; O’Reilly, P; Crushell, E; Hughes, J; Knerr, I; Gavin, P; Monavari, A (Irish Medical Journal, 2017-04)
    Rotavirus is the leading cause of infantile diarrhoea worldwide in children <5 years1. Although mortality rates are low in Ireland, certain populations are more susceptible to the associated morbidity and mortality of infection. A retrospective chart review of 14 patients with confirmed IMDs who were admitted to Temple Street Children’s Hospital between 2010 to 2015 with rotavirus infection were compared with 14 randomly selected age matched controls. The median length of stay was 7 days (SD25.3) in IMD patients versus 1.5 days (SD 2.1) in the controls. IV fluids were required on average for 4.5 days (range 0-17) in IMD patients versus 0.63 days (range 0-3) in controls. This report highlights the increased morbidity of rotavirus infection in patients with IMD compared to healthy children. This vulnerable population are likely to benefit from the recent introduction of the rotavirus oral vaccination in October 2016.
  • Caring for Obese Children- A change in Paradigm

    Doyle, S; Cahill, D; Smyth, M; Murphy, S (Irish Medical Journal, 2017-04)
    Childhood Obesity is a problem of epidemic proportions. The causes are complex and treatment results are variable with much research ongoing. We analysed the initial assessment forms of a group of patients attending the W82GO! Healthy Lifestyle service at The Children’s University Hospital, Temple Street to look at the population and their specific needs. Our analysis revealed a high proportion of emotional and behavioural problems along with bullying. This group of patients are complex and a multi-disciplinary team approach is essential in their treatment.
  • Out of sight, out of mind? A national survey of paediatricians in Ireland regarding Fetal Alcohol Spectrum Disorders

    Gill, I; Sharif, F (Irish Medical Journal, 2017-03)
    Fetal Alcohol Spectrum Disorders (FASDs) are one of the major causes of preventable developmental delay. There is no register of children with FASDs in Ireland. Up to 81% of Irish women report drinking alcohol during the periconceptual period or pregnancy. We aimed to evaluate self-reported knowledge and practice of doctors working in paediatrics in Ireland with regards to FASDs and alcohol consumption during pregnancy. We circulated a survey to all paediatric doctors in Ireland, either enrolled in specialist training or registered as trainers. Fifty-six respondents (31.3%) were unaware of the existence of FASDs. Sixty-two (34.6%) believed most patients with FASDs have dysmorphic features. Seventy-three respondents (40.8%) routinely ask about maternal alcohol consumption during pregnancy in the context of developmental delay. Thirty-one respondents (17.3%) stated that mild alcohol intake in the third trimester of pregnancy is safe. Our survey suggests prenatal alcohol exposure may not be routinely considered in the evaluation of children with developmental delay by paediatric doctors in Ireland.
  • Hospital-in-the-Home — essential to an integrated model of paediatric care

    Hensey, CC; Freyne, B; Bryant, PA (2017-01)
    The National Clinical Programme for Paediatrics and Neonatology is proposing a model of care that will determine the future delivery of children’s health services in Ireland1. The focus is on the provision of an integrated service with improved co-ordination between primary, secondary, and tertiary level facilities. A parallel goal is improvements in chronic care and medical care in the home. An expanded role for ambulatory care and hospital at home schemes with a reduced reliance on inpatient care is proposed in line with international best practice. Achieving these goals requires a paradigm shift in delivery of children’s health care, and reconfiguration of current services to deliver multidisciplinary care in hospital and at home. The recently approved planning application for the new children’s hospital provides an opportunity and heralds a change in the structure of paediatric services in Ireland. It will act as the nexus of paediatric care throughout Ireland; supporting paediatric services nationally through outreach programmes, and ensuring children are treated as close to home as possible. A Hospital-in-the-Home (HITH) program would help meet these objectives; and could provide home based acute paediatric care, leading to economic benefits, and the delivery of quality family-centred care.
  • Sensor Augmented Pump Therapy Use in Type 1 Diabetes Mellitus

    Carolan, E; Murphy, NP (Irish Medical Journal, 2016-11)
    Tight metabolic control in Type 1 Diabetes Mellitus (T1DM) reduces incidence and delays progression of micro-vascular complications. Severe hypoglycaemia remains a significant barrier to achieving optimal diabetes control. Continuous subcutaneous insulin infusion (CSII) systems refine insulin delivery with programmable basal rates and mealtime bolusing
  • MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) – a Diagnosis Not to be Missed

    Quinn, NM; Stone, G; Brett, F; Caro-Dominguez, P; Neylon, O; Lynch, B (Irish Medical Journal, 2016-09)
    MELAS is a rare mitochondrial disorder. We report two cases in Irish males where the characteristics were evident, but the diagnosis not made for a considerable period of time. In one of the cases the symptoms were presumed secondary to prematurity. In the other the symptoms were presumed secondary to epilepsy and he had three respiratory arrests secondary to benzodiazepine administration. This report wishes to highlight MELAS as a differential diagnosis in paediatric patients who present with stroke.
  • Type 1 Tyrosinaemia

    Mannion, MA; Smith, A; Mayne, P; Monavari, AA (Irish Medical Journal, 2016-06)
    Tyrosinaemia type 1 (TYR1, OMIM# 276700) is a rare autosomal recessive disease that results from an enzyme defect that leads to a deficiency in fumarylacetoacetase (FAH)1. We present 3 cases of TYR1 in the Irish population over a 9 year period, the only cases known to have been diagnosed in Ireland since 1989. The common presenting symptom was hypoglycaemia and the diagnosis was made by the identification of the pathognomonic biomarker succinylacetone on urine organic acid analysis. We discuss the clinical presentation, biochemical and genetic results including one novel mutation. We also highlight the importance of early initiation of Nitisinone (NTBC), which reduces the complications of TYR1 and the incidence of liver transplantation in this population2.
  • The Prolonged Neonatal Admission: Implications for our National Children's Hospital

    McGlacken-Byrne, SM; Geraghty, L; Murphy, JFA (Irish Medical Journal, 2016-06)
    A significant number of neonates are admitted to tertiary paediatric units for prolonged stays annually, despite limited availability of neonatal beds. As the three Dublin paediatric hospitals merge, this pressure will be transferred to our new National Children’s Hospital. We analysed epidemiological trends in prolonged neonatal admissions to the 14-bed neonatal unit in The Children’s University Hospital, Temple Street, Dublin. This was with a view to extrapolating this data toward the development of a neonatal unit in the National Children’s Hospital that could accommodate for this complex, important, and resource-heavy patient population. Four hundred and thirty-six babies between 0 and 28 days of life were admitted to our neonatal unit for prolonged stays (three cohorts: >1 month and <3months, >3months and <6months, and >6months), between 2000-2014. Mean number of prolonged admissions >1 month was 29.1 per year (range 18-43). Median length of stay (LOS) was 42 days (range 29-727). 363 babies were admitted for >1month but <3months with a median LOS 38 days (range 28-90); 54 babies were admitted for >3months but <6months with a median LOS 111 days (range 91-179); 19 babies were admitted for >6months with a median LOS 331 (range 196-727). There has been a statistically significant upward trend in the number of prolonged admissions over last fifteen years (Spearman’s rho p=0.01, correlation coefficient 0.848). There has been no significant increase in the median length of stay over time. It can be extrapolated, that in the new children’s hospital must be capable of dealing with at least 80 neonatal long-stay patients annually.
  • Bevacizumab compared with Diode Laser in stage 3 posterior retinopathy of prematurity: a 5 year follow-up

    O’Keeffe, N; Murphy, J; O’Keeffe, M; Lanigan, B (Irish Medical Journal, 2016-02)
    We conducted a prospective randomized study to compare outcomes of intravitreal Bevacizumab versus diode laser in thirty eyes of fifteen premature babies with zone 1 or posterior zone 2 retinopathy of prematurity (ROP). We recorded complications, regression/reactivation of ROP, visual outcome, refractive error and systemic complications. The Bevacizumab-treated eyes showed rapid regression of the ROP with resolution of plus disease and flattening of the ridge at 48 hours post injection. In 3 Bevacizumab-treated eyes, reactivation occurred and were treated with laser (3 eyes) or a further Bevacizumab injection (1 eye). Of the diode laser treated eyes, one showed progression and was treated with Bevacizumab. At 5-year follow-up, good outcomes were observed in both treatment groups. However, less myopia was found in the Bevacizumab compared with the diode laser treated eyes.
  • Transient Hyperphosphatasaemia of Infancy: An Often Unrecognised and Thus Over-Investigated Condition

    Rasheed, E; Mayne, P (Irish Medical Journal, 2016-04)
    Transient hyperphosphatasaemia of infancy (THI) is a benign condition characterised by a rapid rise and fall in plasma alkaline phosphatase (ALP) activity without biochemical or clinical evidence of underlying bone or liver disease. It is most often identified incidentally during routine blood testing; hence it is important to recognise this phenomenon in order to avoid unnecessary investigations and inappropriate referrals. This review has provided some useful insight into the characteristics associated with the THI and the routine clinical practice when isolated elevation of plasma ALP is found in patients at two sites in Republic of Ireland. Over a period of two years, 107,468 requests for plasma ALP analysis were received, of which a total of 250 patients were identified with a plasma ALP activity above 1000IU/L. The biochemical diagnosis of THI was considered in 62 patients, 15 (25%) of these were inappropriately investigated and 5 (13%) were unnecessarily referred to tertiary care by their general practitioners. We recommend that if an isolated high plasma ALP activity is detected during routine blood testing without any indication of bone or liver disease, it is important to consider THI in the differential diagnosis and to repeat the plasma ALP in 7-10 days. This should be further confirmed by the normalisation of the plasma ALP activity in 2-3 months or by ALP isoenzyme analysis where deemed appropriate by the laboratory.

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