• Children's complex care needs: a systematic concept analysis of multidisciplinary language.

      Brenner, Maria; Kidston, Claire; Hilliard, Carol; Coyne, Imelda; Eustace-Cook, Jessica; Doyle, Carmel; Begley, Thelma; Barrett, Michael J; School of Nursing & Midwifery, Trinity College Dublin (Springer, 2018-11-01)
      Complex care in the arena of child health is a growing phenomenon. Although considerable research is taking place, there remains limited understanding and agreement on the concept of complex care needs (CCNs), with potential for ambiguity. We conducted a systematic concept analysis of the attributes, antecedents, and consequences of children's CCNs from a multidisciplinary perspective. Our data sources included PubMed, Cumulative Index to Nursing and Allied Health Literature, and PsycINFO. Inclusion criteria included publications in peer-reviewed journals between January 1990 and December 2017, written in the English language. One hundred and forty articles were included. We found that children's CCNs refer to multidimensional health and social care needs, in the presence of a recognized medical condition or where there is no unifying diagnosis.Conclusion: Children's CCNs are individual and contextualized, are continuing and dynamic, and are present across a range of settings, impacted by family and healthcare structures. There remain extensive challenges to caring for these children and their families, precluding the possibility that any one profession can possess the requisite knowledge or scope to singularly provide high-quality competent care. What is Known: • Complex care is a growing phenomenon and population prevalence figures show that there is an increasing number of children with complex care needs (CCNs). However, the concept has not been systematically analyzed before, leaving it generally ill-defined and at times confusing. What is New: • This is the first time this concept has been systematically analyzed and this analysis provides a much-needed theoretical framework for understanding the multidimensional nature of CCNs in children. • Children's CCNs refer to multidimensional health and social care needs in the presence of a recognized medical condition or where there is no unifying diagnosis. They are individual and contextualized, are continuing and dynamic, and are present across a range of settings, impacted by family and healthcare structures. It is clear that the very nature of CCNs precludes the possibility that any one profession or discipline can possess the requisite knowledge or scope for high-quality competent care for this population.
    • An Audit of Paediatric Organ and Tissue Donation in Ireland

      Marshall, L; Hennessey, I; Lynch, C; Gibbons, C; Crowe, S; 1. Our Lady’s Children’s Hospital Crumlin 2. Temple Street Children’s University Hospital 3. Organ Donation and Transplant Ireland. 4. School of Medicine, University of Dublin, Trinity College, Dublin (Irish Medical Journal, 2018-11)
      Organ donation may be considered in children who die in paediatric intensive care units if certain criteria are met and if their families wish for organ donation. In general organs are donated after death has been confirmed using neurological criteria to diagnose brainstem death (BSD). Donation of organs can also occur in certain circumstances after death has been confirmed using circulatory criteria (DCD). The Intensive Care Society of Ireland has published guidelines on organ donation after brainstem death and more recently on donation after circulatory death1,2. The American College of Critical Care Medicine, The Academy of Royal Medical Colleges and The Australian & New Zealand Intensive Care Society have all also published specific guidelines on the determination of brainstem death in infants and children
    • Cannabis Oil in an Irish Children’s Critical Care Unit

      Fennessy, P; Murphy, L; Crowe, S (Irish Medical Journal, 2018-09)
      We present a case of a five-year-old female admitted postoperatively to the Paediatric Critical Care Unit (PCCU). She had a history of refractory seizures. Her parents had obtained cannabis oil from the United States and were administering it to her at night, in addition to her regular anticonvulsant medication. Her parents reported decreased seizure frequency since its commencement. The child had elective tonsillectomy for management of significant obstructive sleep apnoea (OSA), possibly exacerbated by the sedative properties of cannabis. The admitting surgical and critical care teams were unaware that the child was regularly receiving cannabis until 14 hours after admission to hospital. The PCCU and the hospital do not currently have any guidelines to assist medical and nursing staff with the safe use of this potentially psychogenic preparation. The Irish Health Products Regulatory Authority (HPRA) published a scientific review on the subject in January 20171. After discussion with the child’s parents, we agreed an administration regimen, the timing of which was separate to regular sedative medication in view of the child’s history of OSA. The child’s postoperative course and stay in PCCU was uncomplicated.
    • Hidden Costs in Paediatric Psychiatry Consultation Liaison Services

      Kehoe, C; McNicholas, F (Irish Medical Journal, 2018-03)
      It is recognised that children attending paediatric services have an increased rate of mental health (MH) problems1. Hospital based Mental Health services, interchangeably termed Psychiatric Consultation Liaison Services (PCLS), or Psychological Medicine, exist in the large hospitals, and collaborate with their paediatric colleagues, offering assessment and intervention as required. However, PCLS may also have a role in providing Emergency MH assessments for young people presenting to the Emergency Department (ED), a role independent of their paediatric colleagues. In some cases, these children will need to be admitted to an acute paediatric bed for the management of their mental health illness or psychological distress, awaiting transfer to a child psychiatry specialised bed, or discharge to community services. The profile and costs of these cases are inadequately captured by both HSE CAMHS Annual Reporting System3,4 and the Healthcare Pricing Office (HIPE)2 as they often inadequately record MH referrals. This study explores the costs associated with a cohort of patients presenting to a large paediatric hospital ED, and managed by PCLS, in a one-year period.
    • Kawasaki Disease – A Review of Treatment and Outcomes in an Irish Paediatric Cohort 2010-14.

      Flinn, AM; Gavin, PJ; McMahon, CJ; Oslizlok, P; Butler, KM (Irish Medical Journal, 2018-02)
      Diagnosis of Kawasaki Disease (KD) can be challenging due to lack of a diagnostic test, and some children present with ‘incomplete’ KD when not all diagnostic criteria are met. Treatment with intravenous immunoglobulin (IVIG) and aspirin reduces the risk of coronary artery complications. There is sub-group of patients who are resistant to IVIG/aspirin therapy and are at increased risk of complications. Recent evidence suggests that additional treatment of this high-risk group with corticosteroids is beneficial in reducing this risk. We examine the treatment and coronary artery outcomes, by retrospective review of medical records, of a cohort of 32 paediatric patients with KD admitted to a single Irish tertiary centre from January 2010-December 2014. Twenty-eight percent of patients (9/32) had an incomplete diagnosis of KD; these patients received IVIG later compared to those with a complete KD diagnosis. 15/32 (47%) had abnormal echocardiogram findings in the acute phase, 8/32 (25%) had echocardiogram abnormalities at 6-week follow-up, and 4/32 (12.5%) had persisting abnormalities. This study highlights the potential for adverse outcome in KD, the difficulty in diagnosis in ‘incomplete’ cases, and the need to identify children at higher risk for adverse outcome where adjunctive therapies would be most beneficial.
    • Post-Chemotherapy Retroperitoneal Lymph Node Dissection in Patients with Non-Seminomatous Germ Cell Tumour (NSGCT)

      Ariffin, Nur A; Nason, Gregory J; Omer, Shawgi I; Considine, Shane W; Sweeney, Paul; Power, Derek G (Irish Medical Journal, 2017-11)
      Testicular cancer is the most common neoplasm in 20- to 35-year-old men and accounts for one percent of all male neoplasms1,2. It has an incidence of 6.2 per 100,000 per year and an overall mortality of 0.3 deaths per 100,000 per year in the Irish male population3. It is also one of the most curable malignant conditions and has become a model for the multimodal management of malignancies4. Metastases from testicular cancer follow a predictable path via lymphatic spread to the retroperitoneal lymph nodes5. The primary treatment of nodal disease is platinum-based chemotherapy. Twenty to fifty percent of patients have metastatic disease after chemotherapy, in the form of significant residual retroperitoneal disease. In this subset of patients, surgical resection of the residual disease burden plays an important part.
    • The Role of Screening for Coeliac Disease in Asymptomatic Individuals

      Kernan, R; Hussey, S (Irish Medical Journal, 2017-11)
      Coeliac Disease (CD) is a genetically linked autoimmune disorder in which ingestion of gluten causes an immune-mediated reaction in the small intestine, leading to either gastrointestinal malabsorptive symptoms or non-gastrointestinal features including anaemia, Vitamin D deficiency, fatigue and growth failure in childhood. Ireland’s rising incidence of CD likely represents a true increase in disease, correlating with emerging epidemiological data from Scotland and North America
    • Atresia Hymenalis with Haematometrocolpos: A Benefit of Teaching a Case Series and Review of the Literature

      Whitla, L; Jones, J; Barrett, MJ; O’Donnell, SM; Walsh, S; Blackburn, C (Irish Medical Journal, 2017-09)
      Imperforate hymen or atresia hymenalis is a rare clinical presentation, the condition is estimated to be present in 0.5/1000 females1. It is the most common obstructive anomaly of the female genital tract, and results from failure of canalization of the vaginal plate in utero. Atresia hymenalis can present in neonates as bulging hymen due to accumulation of secretions by the uterovaginal mucosa2,3. Usually the imperforate hymen is asymptomatic until menarche, when haematometrocolpos results in symptoms such as abdominal pain, abdominal mass, urinary retention and constipation. Many cases are diagnosed in the evaluation of primary amenorrhoea or recurrent abdominal pain2,3. We present 4 cases diagnosed over a 7 month period in our ED.
    • Vaccine-Preventable Admissions to an Irish Paediatric Intensive Care

      Doyle, Y; Healy, M; McMahon, C; Crowe, S (Irish Medical Journal, 2017-05)
      In the Republic of Ireland, the schedule of state-funded immunisation for children is comprehensive and includes diphtheria, pertussis, tetanus, pneumococcus, hepatitis B, meningococcus C, haemophilus B, polio, measles, rubella and mumps. Varicella and meningococcal B vaccines are commercially available but are not currently funded by the government. Each of the illnesses preventable by these vaccines can cause substantial morbidity, and rarely mortality, in infants and children. Our PICU continues to see serious illness due to avoidable infection. There were 39 admissions in a 4 year period, with 34 children surviving to discharge. Nine children were infected with pneumococcus, with 4 deaths. There was one case of pertussis, causing death. Most infections occurred in previously healthy children. These preventable conditions represent a significant burden on children, families, and on social and healthcare resources
    • First tooth, first visit, zero cavities: a practical approach to the infant oral health visit

      Fitzgerald, Kirsten; McGovern, Eleanor; Ní Chaollaí, Aifric (Journal of the Irish Dental Association, 2017-04)
      The IDA adopted a formal policy on children’s oral health in 2011. There is increasing evidence to support early dental visits for children. The background to the infant oral health visit is discussed and a systematic approach to the practicalities of the visit is offered. General dental practitioners are encouraged to offer the first oral health visit before the first birthday, and this paper aims to give them practical advice concerning this visit. The feature is accompanied by a companion paper that reviews the literature pertaining to the topic, and serves to complement the recent clinical feature published in the Journal of the Irish Dental Association.
    • Dilated cardiomyopathy secondary to vitamin D deficiency and hypocalcaemia in the Irish paediatric population. A case report.

      Glackin, S; Mayne, P; Kenny, D; McMahon, CJ; Cody, D (Irish Medical Journal, 2017-03)
      We identified three infants with dilated cardiomyopathy (DCM) secondary to severe vitamin D deficieny and hypocalcaemia. All infants were exclusively breast fed, from dark skinned ethnic backgrounds, born and living in Ireland. None of these pregnant mothers or infants received the recommended vitamin D supplementation. Each infant presented in heart failure and required inotropic support as well as calcium and vitamin D replacement. Cardiac function subsequently improved. This highlights the public health issue that many high risk pregnant mothers and infants are not receiving the recommended vitamin D supplementation.
    • MUTYH-Associated Polyposis: The Irish Experience

      McVeigh, TP; Duff, M; Carroll, C; Cody, N; O’Shea, R; Bradley, L; Farrell, M; Gallagher, DJ; Clabb, C; Green, AJ (Irish Medical Journal, 2016-11)
      MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common European MUTYH mutations account for 90% of MUTYH-associated polyposis (MAP). We aimed to examine the incidence of MAP in Ireland. A retrospective cohort study was undertaken. Patients undergoing MUTYH testing from 2003-2016 were identified by searching electronic databases using terms "MUTYH" and "MYH". Phenotypic and genotypic details were obtained by chart review. Bi-allelic mutations were confirmed in 26 individuals (17 families), of whom 16 (62%) developed colorectal malignancies, and 22(85%) polyposis. Eleven families had bi-allelic status for one/both common European mutations. Regional variation was noted, with over-representation of bi-allelic mutation carriers in the South-west of Ireland. MAP is under-diagnosed in Ireland. Increased awareness is required to facilitate appropriate identification and surveillance of bi-allelic mutation carriers for colorectal pathology.
    • Baby steps: a systematic approach to the infant oral health visit

      FitzGerald, Kirsten; McGovern, Eleanor; Ní Chaollaí, Aifric; Duane, Brett (Irish Dental Assocation (IDA), 2016-06)
      For practitioners who wish to offer the infant oral health visit in their practice, some new knowledge and skills may be needed, and it is hoped that the following advice and systematic approach will facilitate both practitioner and family. The visit should include a formal caries risk assessment, which is generally best achieved with the aid of a tool such as the Caries Risk Assessment Checklist (CRAC),1 which is suitable for all children, or a specific tool aimed at the 0-3 age group, such as the American Academy of Pediatric Dentistry’s (AAPD) Caries-risk Assessment Tool (CAT).2
    • The efficacy of an extended scope physiotherapy clinic in paediatric orthopaedics.

      O Mir, Marie; Cooney, Ciara; O'Sullivan, Cliona; Blake, Catherine; Kelly, Paula; Kiely, Pat; Noel, Jacques; Moore, David (Journal of children's orthopaedics, 2016-04)
      The demand for paediatric orthopaedic care is growing, and providing the service required is an increasingly challenging task. Physiotherapist-led triage clinics are utilised in adult orthopaedics to enable the provision of care to patients who may not require a surgical consult. The Physiotherapy Orthopaedic Triage Clinic (POTC) was established in Our Lady's Children's Hospital Crumlin in response to increasing demands on the paediatric orthopaedic service. The clinic is run by physiotherapists working in an advanced practice role (APP), and is the first paediatric clinic of its type and scale in the Republic of Ireland.
    • Difficulties in the Diagnosis and Management of Paediatric Posterior Circulation Stroke

      Walsh, Ó; Mc Coy, B; Rea, D; Webb, D (Irish Medical Journal, 2016-03)
      We present two children with posterior circulation stroke (PCS) highlighting the wide spectrum of presentation, the need for complete radiological assessment, and the relatively high recurrence risk.
    • Preoperative curves of greater magnitude (>70°) in adolescent idiopathic scoliosis are associated with increased surgical complexity, higher cost of surgical treatment and a delayed return to function

      Tarrant, R. C.; Queally, J. M.; O’Loughlin, P. F.; Sheeran, P.; Moore, D. P.; Kiely, P. J.; Our Lady's Children's Hospital Crumlin; National Children's Research Centre Dublin 12 (2016-01-07)
    • Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

      Gobius, Ilan; Morcom, Laura; Suárez, Rodrigo; Bunt, Jens; Bukshpun, Polina; Reardon, William; Dobyns, William B; Rubenstein, John L R; Barkovich, A James; Sherr, Elliott H; Richards, Linda J (CellPress, 2016)
      The corpus callosum is the major axon tract that connects and integrates neural activity between the two cerebral hemispheres. Although ∼1:4,000 children are born with developmental absence of the corpus callosum, the primary etiology of this condition remains unknown. Here, we demonstrate that midline crossing of callosal axons is dependent upon the prior remodeling and degradation of the intervening interhemispheric fissure. This remodeling event is initiated by astroglia on either side of the interhemispheric fissure, which intercalate with one another and degrade the intervening leptomeninges. Callosal axons then preferentially extend over these specialized astroglial cells to cross the midline. A key regulatory step in interhemispheric remodeling is the differentiation of these astroglia from radial glia, which is initiated by Fgf8 signaling to downstream Nfi transcription factors. Crucially, our findings from human neuroimaging studies reveal that developmental defects in interhemispheric remodeling are likely to be a primary etiology underlying human callosal agenesis.
    • NSD1 mutations generate a genome-wide DNA methylation signature.

      Choufani, S; Cytrynbaum, C; Chung, B H Y; Turinsky, A L; Grafodatskaya, D; Chen, Y A; Cohen, A S A; Dupuis, L; Butcher, D T; Siu, M T; Luk, H M; Lo, I F M; Lam, S T S; Caluseriu, O; Stavropoulos, D J; Reardon, W; Mendoza-Londono, R; Brudno, M; Gibson, W T; Chitayat, D; Weksberg, R (Nature Publishing Group, 2015-12-22)
      Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations have a genome-wide impact on the most stable epigenetic mark, DNA methylation (DNAm). By interrogating DNAm in SS patients, we identify a genome-wide, highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome. Validation studies of independent cohorts of SS and controls assigned 100% of these samples correctly. This highly specific and sensitive NSD1(+/-) signature encompasses genes that function in cellular morphogenesis and neuronal differentiation, reflecting cardinal features of the SS phenotype. The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing.
    • A paediatric hernia with a twist: the presentation, imaging findings and management of a strangulated ovarian hernia

      Hughes, P; Abdelhafeez, A; Byrne, AT; Rea, D; JGillick, J (Irish Medical Journal, 2015-10)
      Indirect inguinal hernias are the most commonly encountered congenital abnormality in infants. 1,2 They may be complicated by herniation of abdominal or pelvic viscus. In girls, a herniated ovary is a relatively common finding, however torsion of the ovary is infrequent. A tender irreducible inguinal hernia in an infant girl should raise the possibility of a strangulated herniated ovary as it requires urgent surgical attention. When in doubt, ultrasound with colour Doppler easily confirms the diagnosis. Here we present the case of an ovarian inguinal hernia which had undergone torsion and review the presentation, imaging findings and management.
    • Further delineation of the KAT6B molecular and phenotypic spectrum.

      Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth; Johnson, Diana; Doco-Fenzy, Martine; Bijlsma, Emilia; Unger, Sheila; Veenstra-Knol, Hermine E; Kohlhase, Jürgen; Lo, Ivan F M; Smith, Janine; Clayton-Smith, Jill (Nature Publishing Group, 2015-09)
      KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.