Out-of-hospital arrests attending an Australian tertiary paediatric emergency department over 13 years: An observational study.

OBJECTIVE: In paediatric cardiopulmonary arrest, International Liaison Committee on Resuscitation (ILCOR) states, 'there are no simple guidelines to determine when resuscitative efforts become futile'. Considerations to assist this decision-making include cause of arrest, pre-existing medical conditions, age, site of arrest, duration of untreated cardiopulmonary arrest, witnessed arrest and presence of shockable rhythm. Outcomes are poor in out-of-hospital cardiac arrests (OHCA), particularly for infants. This single-centre observational study describes the characteristics and outcomes of the subgroup of children presenting to our hospital's ED following OHCA still receiving cardiac compressions, to assist development of guidelines for future resuscitation efforts in our ED, particularly for cessation of cardiopulmonary resuscitation (CPR). METHODS: The ED database was searched for children presenting in cardiopulmonary arrest receiving cardiac compressions. Data were reviewed on pre-hospital, ED and hospital management and outcome, particularly looking at considerations outlined by ILCOR. RESULTS: From January 2000 to December 2013, 60 children were identified: median age 1.71 years; 87% arresting at home; 68% with bystander CPR; median CPR duration pre-hospital 42 min, and in ED 19.5 min; total CPR median 61 min. Fifty patients (83%) died in ED, 10 (17%) were admitted to intensive care but all died within 4 days. CONCLUSION: Children presenting to ED still receiving cardiac compressions following OHCA had a universally poor outcome, regardless of age and underlying cause. This implies resuscitative efforts could be discontinued earlier in this subgroup. A national, multicentre study is needed to determine if this finding is reproducible with a larger population.

An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies.

A boy with autistic spectrum disorder without dysmorphisms was found to have a chromosome duplication of part of band 13q21. His mother and grandfather both of normal intellect had the same chromosomal duplication. Comparison was made with the Chromosome anomaly database www.som.soton.ac.uk/research/geneticsdiv/anomaly%20register which revealed similar cases. Mapping on DNA microarray for the proband and mother showed the duplication to be of length 11.2 Mb, encompassing the 13q21.1-13q21.32 region. The duplicated region is profoundly gene poor, with a mean gene density of 0.45 genes/Mb. We estimate, that the mean gene density in the sub-bands of the chromosome anomalies is 2.4-2.5 genes/Mb. In addition the percentages of the sub-bands reported as copy number variants (CNV) was estimated from the Database of Chromosome Genomic Variants (http://projects.tcag.ca/variation/). It was found that for some of these sub-bands, gene paucity was likely to be a major contributor to their innocuous phenotypic effect, for example, the gene densities were for: 1p31.2 (1.25 genes/Mb); 2p12 (1.7); 4p15.31 (1.3); 5p14.1 (0.22); 5p14.3 (0.8); 5q21.2 (0.6); 5q21.3 (1.2); 8p23.2 (0.25); 13q21.1 (0.9); 14q31.1 (1.4); 18q22.1 (1.4); 21q21.1 (1.2); and 21q21.2 (0.7). For other sub-bands the percentage of the band in which CNV have been reported was found to be markedly increased, for example, 8p23.2 (94.7% of the band is defined by reported CNV); 3p26.3 (81.6); 5p14.3 (59.3); 8p22 (48.8); 2p12 (44.0); 5q21.1 (43.6); 6q24.2 (41.4); 9p23 (38.8); 10q21.1 (36.5); 5q21.2 (35.4), and 11q14.3 (33.8). We argue that both gene paucity and pervasive CNV are major indicators of bands conforming to the Chromosome Anomaly phenomenon.