Search

Objective: To evaluate genetic disease among children referred to a community paediatric clinic.Design: Retrospective cohort study.Setting: Community paediatric clinic, Tower Hamlets, London.Patients: All patients seen for first time in the Child Development Team (CDT) clinic between 1999 and 2013.Interventions: Clinical notes were reviewed. Genetic test results were obtained. Exploratory Excel analysis was performed. Patients without an identified genetic disorder were labelled 'more likely genetic cause' if they had at least two out of three risk factors: developmental delay, congenital abnormality or parental consanguinity, and 'unlikely genetic cause' if they had one or no risk factors, or an obvious alternative cause.Main Outcome Measures: Prevalence of genetic diagnoses and parental consanguinity, undertaking of genetic tests, predicted likelihood of a genetic cause among unsolved patients.Results: 749 patients were included. 404 (53.9%) had undergone genetic testing and 158 of those tested (39.1%) had a confirmed genetic diagnosis. Parental relatedness was documented in 461 patients, of which 128 (27.8%) had first-cousin parents. The number of patients undergoing genetic testing increased over time. Aneuploidies and syndromic/Mendelian disorders were most common. Of the 591 patients without a genetic diagnosis, 29.9% were classified 'more likely genetic cause'. Patients with consanguineous parents were significantly more likely to have a diagnosed genetic disorder than those with non-consanguineous parents (43/128 vs 72/333), particularly an autosomal recessive condition (27/43 vs 6/72).Conclusions: Genetic disease was common and genetic testing is important in evaluating children in this clinic. Consanguinity increases the likelihood of autosomal recessive disease. [ABSTRACT FROM AUTHOR]

Objectives To evaluate the change in physiologic stability of very low-birth-weight (VLBW) infants following transport using TRIPS (transport risk index of physiologic stability) score as a measure of physiologic stability and compare changes in TRIPS score in groups of VLBW infants who underwent shorter versus longer transport. Study Design Retrospective chart review. Results Our cohort of 106 infants, 44 (41%) of whom were females, had a mean birth weight of 777 g (standard deviation [SD] 159) and median gestational age of 26 weeks (range 23 to 32 weeks). Mean weight at transfer was 1,610 g (SD 924) and mean postnatal age at transfer was 56 days (SD45). Median time on transport was 15 minutes (range 10 to 85 minutes). All 106 transports were ground transports. Of the 106 infants, 57 (54%) had deterioration, 20 (19%) had improvement, and 29 (27%) had no change in their physiologic status during transport. Comparison of the two transport duration groups based on median transport time as a cutoff point (i.e., ≤ 15 minutes and > 15 minutes) revealed a higher proportion of infants with deterioration in their physiologic status in the prolonged transport (>15 minutes) group (65% versus 45%; p = 0.03). Temperature change, either alone or in combination with other indices, was responsible for change in TRIPS score (deterioration or improvement) in 79% of these infants. Conclusions Interhospital transport of VLBW infants may cause deterioration in their physiologic status, the likelihood of which is increased with longer duration of transport. Better temperature regulation during interhospital transport may decrease the chances of deterioration in physiologic status of VLBW infants. [ABSTRACT FROM AUTHOR]

Objective: To reduce the incidence of hypothermia (admission temperatures <36°C) in extremely low birth weight (ELBW) neonates using a multi-intervention quality improvement (QI) initiative. Study design: We conducted a multi-intervention QI initiative to reduce hypothermia (admission temperatures <36°C) among preterm ELBW (≤1000 g birth weight) neonates born at Hutzel Women's Hospital. The QI project was conducted in three periods: period 1, traditional thermal care of drying and wrapping in towel; period 2, wrapping in plastic wTap without first drying; and period 3, periodic staff education, additional use of chemical warming mattress, and increase in operating room temperature from 20°C to 21°C. Statistical analysis included ANOVA, χ², and logistic regression as appropriate. Results: In our cohort of 209 patients, baseline characteristics were comparable in the three periods except for a reduction in the need for surfactant doses in the 3rd period. Temperature on admission to the neonatal intensive care unit was significantly higher, with a reduction in hypothermia in the 3rd period. There was no patient with a temperature of >37.5 C. On logistic regression, with gestational age, 5-min Apgar score, and mode of delivery as covariates, time period 3 was significantly associated with a reduction in the incidence of hypothermia (P=0.02). Conclusion: A concerted QI approach improved admission temperature in ELBW neonates, with more neonates in the euthermic range, without increasing the risk for hyperthermia. Such an approach could be associated with improved outcomes in this population. [ABSTRACT FROM AUTHOR]