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pregnancy, birth, growth, development, physical examination and vaccination, to promote and maintain health. We identified, among other codes, the Logical Observation Identifiers Names and Codes, a universal standard and electronic database for clinical care and management, applicable to child health care (such as codes 8339-4Birth weight Measured and 8287-5Head Occipital-frontal circumference by Tape measure) for registering the first feature of a (rare) disabling condition. Medical guidelines on Shwachman Diamond Syndrome (SDS) and Thalassemia Major were reviewed on recommended measurements. LOINC codes specific for SDS and thalassemia were applied in text mining for processing PubMed document sets. Results We identified a subset of international interoperable codes to help to identify (rare) disabling conditions presenting in the first years of life. Child health handbooks can be enriched with a simple laboratory test to help diagnose diseases as a possible part of a (rare) condition.Text mining is a powerful tool for processing PubMed document sets to identify diagnostic test in literature. Using unsupervised techniques such as clustering and spatial placement, with one can quickly gain insight into the contents of the documents, discover hidden properties and determine how to further explore and label the data. 2 Terms that belong to LOINC codes in filtering the whole (ranked) document set one can identify also the important rare disease papers that most likely are relevant for a medical test. Conclusions The application of specific code-sets ensures the harmonization of data and the possibility of data exchange. As demonstrated with the LOINC the establishment of an interoperable child health record, including children with chronic illness and disabilities, is feasible. Collaboration between paediatricians, families, health system managers and data services is necessary to provide digital solutions to support the SDG3.

positive results from 1249 CSF samples tested using FA-M/E technology. Of the positive analyses, 50 (19.5%) were bacterial and 206 (80.5%) were viral/fungal pathogens. 41/50 (82%) bacterial isolates were TP and 6/50 (12%) False Positives (FP) and 3 unconfirmed by reference tests. The bacterial analytes detected include S.Pneumonia 19 (15 TP, 2 FP, 2 unconfirmed) S.Agalactiae 13 (11 TP, 2 FP), E.Coli K1 13 (11TP, 1 FP, 1 unconfirmed), HiB 3 (2 TP, 1 FP), N. Meningitidis 1 (1 TP), L. Monocytogenes 1 (1 TP). 41/50 (82%) bacterial isolates were TP's confirmed by reference testing, 6/50 (12%) were FP and 3/50 (6%) were unconfirmed by reference testing. Conclusions The FA-M/E panel can detect 6 common bacterial organisms in the CSF with a TP rate of 82% and a FP rate of 12%. The PCR panels ability to rapidly identify CNS pathogens within 60 minutes makes it a useful diagnostic tool in emergency settings. However five out of eight studies included were retrospective and as a result clinical data may had been lost, some samples were retrospectively tested after 2 years, thus we cannot determine the exact impact the FA-M/E would have on clinical outcomes. Due to study design or insufficient CSF volume, many samples did not undergo adjudicatory testing to validate FA-M/E panel results.The FA-M/E panel and rapid PCR panels are feasible adjuncts to conventional testing but larger studies in different settings are required before they can replace current practice.

Food Diaries to evaluate dietary intake. Nutritional bloods to assess iron and Vitamin D status were taken. Results Participants included nineteen children. Median age was 7.9 years (range 0.6-18.1 years). Majority were female (n=14, 74%). Median age at diagnosis was 2.5 weeks (range birth -2.7 years). Growth Hormone treatment was in place for the majority (n=14, 74%) and commenced at a median age of 2.6 years. Of the reporting parents, 89% (n=17) were mothers with 37% (n=7) reporting to be homemakers. All children were living in 2 parent households. BMI was calculated for all children over 2 years (n=15). Using the BMI classification 20% (n=3) were underweight, 60% (n=9) were healthy weight, one patient was overweight and 13.3% (n=2) were obese. Body composition analysis was completed where appropriate (n=9), median% bodyfat was 26% and ranged from 10 -40%. The majority reported early feeding issues, all of whom required admission to the special care baby unit with median length of stay of 7 days (IQR 14 days). Difficulties progressing with textures and difficulties achieving typical feeding milestones was reported in 7 cases (39%). Food seeking behaviours were present in 10 patients (55%) with a median age of onset of 3.7 years. Children achieved 41% -112% of their estimated average requirement (EAR) for energy (median 82%, IQR 33). The macronutrient composition of the diet varied greatly. Insufficient micronutrient intake was reported for iron, calcium and vitamin D. Nutritional bloods identified iron deficiency anaemia and vitamin D insufficiency in 2 patients. 58% (n=11) were taking self-prescribed supplements.Conclusion Early feeding issues are common in PWS. The majority of our cohort were classified as having a healthy BMI achieved through significant restriction of energy intake. Suboptimal dietary intake of and deficiencies in key nutrients was noted. This study highlights the importance of adjusting energy intake to prevent overweight and obesity while ensuring adequate micronutrient intake to support optimal growth and development.