Enrolment of the first paediatric cohort into the Australian lupus registry and biobank: A single-centre experience.

INTRODUCTION: We aim to report on the feasibility of establishment of the first paediatric cohort as part of the longitudinal database of the Australian Lupus Registry and Biobank (ALRB) and to describe the enrolment data with a focus on clinical characteristics, serological data, treatment strategies and patient/parent-reported outcome measures. METHODS: All patients under the age of 18 years with a diagnosis of systemic lupus erythematosus (SLE) attending the paediatric rheumatology service of a single, tertiary hospital were identified. Patients were enrolled in the ALRB if they met ≥4/11 of the American College of Rheumatology (ACR) 1997 SLE classification criteria or the Systemic Lupus International Collaborating Clinics (SLICC) 2012 classification criteria. Enrolment data including demographics, clinical characteristics, serological profiles, disease activity and damage assessments were recorded. Peds-QL Rheumatology and General Modules were used to assess patient and parent-reported outcomes. RESULTS: Twenty-seven patients were eligible for inclusion, with 26 patients (96%) consenting for enrolment. Twenty-five patients (92%) consented for biobanking. Twenty patients (77%) were female. The median age at enrolment was 16 years (interquartile range (IQR) 13.7, 17.4). The median disease duration from diagnosis was 3.2 years (IQR 1.4, 5.3). Sixteen patients (62%) had synovitis, 16 (62%) had cutaneous involvement, 4 (15%) had serositis, 17 (65%) had haematological involvement and 7 (27%) had renal involvement at enrolment. Nineteen patients (73%) were prescribed at least two disease-modifying anti-rheumatic medications (DMARDs). Hydroxychloroquine (n = 22, 85%) and mycophenolate mofetil (n = 9, 35%) were the most commonly prescribed DMARDs. The median SLEDAI-2K score was 2 (IQR 2, 4). Six patients (23%) had active disease (SLEDAI-2K ≥6) at enrolment. Three patients (11.5%) had reported damage using the SLICC/ACR Damage Index. Twenty-three children (88%) and eighteen parents (69%) completed the Paediatric Quality of Life Inventory. Quality of life scores reported across domains of physical, emotional, social and school functioning at enrolment were comparable to previously studied paediatric cohorts with SLE and other chronic diseases. CONCLUSION: We have established our centre as the first paediatric participating site of the ALRB, providing contemporary data on the clinical characteristics, serological profile and health-related quality of life outcomes of Australian children with SLE. Paediatric involvement with this national registry will provide a unique perspective for future clinical and scientific research. Collection of Australian-specific paediatric longitudinal data will also enable a broader understanding of SLE within a multicultural Australian population.

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.

BACKGROUND: Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine ß-synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens dislocation, developmental delay, skeletal anomalies, or thromboembolism. Limited literature exists outlining the risk of encephalopathy associated with hypermethioninemia presenting in children with classical homocystinuria. AIM: To assess the quality of metabolic control and plasma methionine concentrations in infancy in a cohort of 36 patients with classical homocystinuria in the Republic of Ireland. METHODS: Review of biochemical and clinical data including neuroradiological results that are available for the first year of life in our patients diagnosed on newborn screening was performed with appropriate consent and ethical approval. RESULTS AND DISCUSSION: Median total homocyst(e)ine and methionine plasma concentrations were 78 and 55 µmol/L, respectively. Methionine concentrations were significantly higher in neonates as opposed to older children. The highest methionine level identified was 1329 µmol/L in a child who presented clinically with encephalopathy. Elevated homocyst(e)ine and methionine levels are associated with significant morbidities. Therefore, prevention of complications requires prompt recognition and treatment. Chronic and acute complications may be encountered in patients with classical homocystinuria and plasma methionine concentrations pose an additional risk factor.

Donor human milk use in neonatal units: practice and opinions in the Republic of Ireland.

BACKGROUND: Over the past decade, where mother's own milk (MOM) is unavailable, the use of donor human milk has become increasingly common in preterm and very low birth weight (VLBW) neonates. Limited literature exists regarding donor human milk practices in neonatal units. AIMS: To examine practices and opinions regarding use of donor human milk in neonatal units in the Republic of Ireland. METHODS: Cross-sectional postal survey of all neonatologists and paediatricians working in each of the 19 neonatal units in the Republic of Ireland. MAIN RESULTS: Eighty-eight paediatricians and neonatologists were surveyed and 44 (50%) replied. Responses were received from 20 (95%) neonatal units, of whom 15 (75%) reported using donor milk. Sixty percent of units had a written donor milk policy however significant variation existed in birth weight and gestational age thresholds for its use. Thirty-eight (86%) of respondents were opposed to the use of donor milk for supplementation of otherwise healthy term neonates. Ten (23%) of respondents believed that supplementation with donor milk compared to formula improves long-term breastfeeding rates. Twenty-two (56%) agreed that the majority of studies supporting the use of donor milk to prevent necrotising enterocolitis in preterm infants were undertaken in the past 15 years. CONCLUSION: This is the first study to evaluate current practices and opinions regarding donor milk use in the Republic of Ireland and highlights the necessity to develop a national guideline of evidence-based best practice.