Copy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood.

We investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics services, with carriers who were not. One hundred twenty-four adult participants (age 18–76), each bearing one of 15 rare CNVs, were recruited through a variety of sources including clinical genetics services, charities for carriers of genetic variants, and online advertising. A battery of psychiatric assessments was used to determine psychopathology.

The frequencies of psychopathology were consistently higher for the CNV group compared to general population rates. We found particularly high rates of neurodevelopmental disorders (NDDs) (48%), mood disorders (42%), anxiety disorders (47%) and personality disorders (73%) as well as high rates of psychiatric multimorbidity (median number of diagnoses: 2 in non-probands, 3 in probands). NDDs [odds ratio (OR) = 4.67, 95% confidence interval (CI) 1.32–16.51; p = 0.017) and psychotic disorders (OR = 6.8, 95% CI 1.3–36.3; p = 0.025) occurred significantly more frequently in probands (N = 45; NDD: 39[87%]; psychosis: 8[18%]) than non-probands (N = 79; NDD: 20 [25%]; psychosis: 3[4%]). Participants also had somatic diagnoses pertaining to all organ systems, particularly conotruncal cardiac malformations (in individuals with 22q11.2 deletion syndrome specifically), musculoskeletal, immunological, and endocrine diseases.

Adult CNV carriers had a markedly increased rate of anxiety and personality disorders not previously reported and high rates of psychiatric multimorbidity. Our findings support in-depth psychiatric and medical assessments of carriers of CNVs and the establishment of multidisciplinary clinical services.

To identify the ways in which parental involvement can be incorporated into interventions to support adolescent health behaviour change.

Data from semi-structured interviews were analysed using inductive thematic analysis.

Southampton, Hampshire, UK.

A convenience sample of twenty-four parents of adolescents.

Parents consider themselves to play an important role in supporting their adolescents to make healthy choices. Parents saw themselves as gatekeepers of the household and as role models to their adolescents but recognised this could be both positive and negative in terms of health behaviours. Parents described the changing dynamics of the relationships they have with their adolescents because of increased adolescent autonomy. Parents stated that these changes altered their level of influence over adolescents’ health behaviours. Parents considered it important to promote independence in their adolescents; however, many described this as challenging because they believed their adolescents were likely to make unhealthy decisions if not given guidance. Parents reported difficulty in supporting adolescents in a way that was not viewed as forceful or pressuring.

When designing adolescent health interventions that include parental components, researchers need to be aware of the disconnect between public health recommendations and the everyday reality for adolescents and their parents. Parental involvement in adolescent interventions could be helpful but needs to be done in a manner that is acceptable to both adolescents and parents. The findings of this study may be useful to inform interventions which need to consider the transitions and negotiations which are common in homes containing adolescents.

Consumption is driven by children’s sensory acceptance, but little is known about the sensory characteristics of vegetables that children commonly eat. A greater understanding could help design more effective interventions to help raise intakes, thus realising beneficial health effects. This study sought to: (1) Understand the vegetable consumption patterns in children, with and without potatoes, using the Australian and WHO definitions. (2) Describe the sensory characteristics of vegetables consumed by children by age group, level of intake and variety. (3) Determine the vegetable preferences of children, by age group, level of intake and variety.

Analysis of National Nutrition Survey data, combining reported vegetable intake with sensory characteristics described by a trained panel.

Australia

A nationally representative sample of Australian children and adolescents aged 2–17·9 years (n 2812).

While consumption increased in older age groups, variety remained constant. Greater variety, however, was associated with higher vegetable consumption. Potato intake increased with consumption, contributing over one-third of total vegetable intake for highest vegetable consumption and for older age groups. Children favoured relatively sweet vegetables and reported lower consumption of bitter vegetables. There were no differences in the sensory properties of vegetables consumed by children in different age groups. After potatoes, carrots, sweetcorn, mixtures, fruiting and cruciferous types were preferred vegetables.

Children tend to prefer vegetables with sensory characteristics consistent with innate taste preferences (sweet and low bitterness). Increasing exposure to a variety of vegetables may help increase the persistently low vegetable consumption patterns of children.

Clinical diagnostics in sudden onset disasters have historically been limited. We set out to design, implement, and evaluate a mobile diagnostic laboratory accompanying a type 2 emergency medical team (EMT) field hospital.

Available diagnostic platforms were reviewed and selected against in field need. Platforms included HemoCue301/WBC DIFF, i-STAT, BIOFIRE FILMARRAY multiplex rt-PCR, Olympus BX53 microscopy, ABO/Rh grouping, and specific rapid diagnostic tests. This equipment was trialed in Katherine, Australia, and Dili, Timor-Leste.

During the initial deployment, an evaluation of FilmArray tests was successful using blood culture identification, gastrointestinal, and respiratory panels. HemoCue301 (n = 20) hemoglobin values were compared on Sysmex XN 550 (r = 0.94). HemoCue WBC DIFF had some variation, dependent on the cell, when compared with Sysmex XN 550 (r = 0.88-0.16). i-STAT showed nonsignificant differences against Vitros 250. Further evaluation of FilmArray in Dili, Timor-Leste, diagnosed 117 pathogens on 168 FilmArray pouches, including 25 separate organisms on blood culture and 4 separate cerebrospinal fluid pathogens.

This mobile laboratory represents a major advance in sudden onset disaster. Setup of the service was quick (< 24 hr) and transport to site rapid. Future deployment in fragmented health systems after sudden onset disasters with EMT2 will now allow broader diagnostic capability.

We designed, developed, and implemented a new hospital-based health technology assessment (HB-HTA) program called Smart Innovation. Smart Innovation is a decision framework that reviews and makes technology adoption decisions. Smart Innovation was meant to replace the fragmented and complex process of procurement and adoption decisions at our institution. Because use of new medical technologies accounts for approximately 50 percent of the growth in healthcare spending, hospitals and integrated delivery systems are working to develop better processes and methods to sharpen their approach to adoption and management of high cost medical innovations.

The program has streamlined the decision-making process and added a robust evidence review for new medical technologies, aiming to balance efficiency with rigorous evidence standards. To promote system-wide adoption, the program engaged a broad representation of leaders, physicians, and administrators to gain support.

To date, Smart Innovation has conducted eleven HB-HTAs and made clinician-led adoption decisions that have resulted in over $5 million dollars in cost avoidance. These are comprised of five laboratory tests, three software-assisted systems, two surgical devices, and one capital purchase.

Smart Innovation has achieved cost savings, avoided uncertain or low-value technologies, and assisted in the implementation of new technologies that have strong evidence. The keys to its success have been the program's collaborative and efficient decision-making systems, partnerships with clinicians, executive support, and proactive role with vendors.

Clinical diagnostics in sudden-onset disasters (SOD) has historically been limited. With poor supply routes, lack of a cold chain, and challenging environmental conditions, many diagnostic platforms are unsuitable.

We set out to design, implement, and evaluate a mobile diagnostic laboratory accompanying a type II emergency medical team (EMT) field hospital.

Available diagnostic platforms were reviewed and selected against infield need. Platforms included HemoCue301/WBC DIFF, i-STAT, BioFire multiplex RT-PCR, Olympus BX53 microscopy, ABO/Rh Grouping, and specific rapid diagnostic tests (RDT). This equipment was trialed in Katherine, Australia and Dili, Timor-Leste.

During the initial deployment, validation of FilmArray rt-PCR multiplex tests was successful on blood culture, gastrointestinal, and respiratory panels. HemoCue301 (n = 20) haemoglobin values were compared on Sysmex XN 550 (r = 0.94). Analysis of HemoCue WBC DIFF samples had some variation when compared to Sysmex XN 550, (neutrophils r = 0.88, lymphocytes r = 0.49, monocytes r = 0.16, eosinophils r = 0.70, basophils r = 0.16). i-STAT showed non-significant differences for CHEM4 (n=10), CG8 (n = 10), and TnI (n = 5) against Vitros 250. A further trial of BioFire rt-PCR testing in Dili, Timor-Leste diagnosed 117 causative pathogens on 168 FilmArray test cartridges.

This mobile laboratory represents a major advance in SOD. Setup of the service was quick (<24hr) and transport to site rapidly. Training was simple and performance consistent. Future deployment in fragmented health systems after sudden onset disasters with EMT2 will now allow broader diagnostics.

Following stage 1 palliation, delayed sternal closure may be used as a technique to enhance thoracic compliance but may also prolong the length of stay and increase the risk of infection.

We reviewed all neonates undergoing stage 1 palliation at our institution between 2010 and 2017 to describe the effects of delayed sternal closure.

During the study period, 193 patients underwent stage 1 palliation, of whom 12 died before an attempt at sternal closure. Among the 25 patients who underwent primary sternal closure, 4 (16%) had sternal reopening within 24 hours. Among the 156 infants who underwent delayed sternal closure at 4 [3,6] days post-operatively, 11 (7.1%) had one or more failed attempts at sternal closure. Patients undergoing primary sternal closure had a shorter duration of mechanical ventilation and intensive care unit length of stay. Patients who failed delayed sternal closure had a longer aortic cross-clamp time (123±42 versus 99±35 minutes, p=0.029) and circulatory arrest time (39±28 versus 19±17 minutes, p=0.0009) than those who did not fail. Failure of delayed sternal closure was also closely associated with Technical Performance Score: 1.3% of patients with a score of 1 failed sternal closure compared with 18.9% of patients with a score of 3 (p=0.0028). Among the haemodynamic and ventilatory parameters studied, only superior caval vein saturation following sternal closure was different between patients who did and did not fail sternal closure (30±7 versus 42±10%, p=0.002). All patients who failed sternal closure did so within 24 hours owing to hypoxaemia, hypercarbia, or haemodynamic impairment.

When performed according to our current clinical practice, sternal closure causes transient and mild changes in haemodynamic and ventilatory parameters. Monitoring of SvO2 following sternal closure may permit early identification of patients at risk for failure.

The optimal approach to unifocalisation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (pulmonary artery/ventricular septal defect/major aortopulmonary collaterals) remains controversial. Moreover, the impact of collateral vessel disease burden on surgical decision-making and late outcomes remains poorly defined. We investigated our centre’s experience in the surgical management of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals.

Between 1996 and 2015, 84 consecutive patients with pulmonary artery/ventricular septal defect/major aortopulmonary collaterals underwent unifocalisation. In all, 41 patients received single-stage unifocalisation (Group 1) and 43 patients underwent multi-stage repair (Group 2). Preoperative collateral vessel anatomy, branch pulmonary artery reinterventions, ventricular septal defect status, and late right ventricle/left ventricle pressure ratio were evaluated.

Median follow-up was 4.8 compared with 5.7 years for Groups 1 and 2, respectively, p = 0.65. Median number of major aortopulmonary collaterals/patient was 3, ranging from 1 to 8, in Group 1 compared with 4, ranging from 1 to 8, in Group 2, p = 0.09. Group 2 had a higher number of lobar/segmental stenoses within collateral vessels (p = 0.02). Group 1 had fewer catheter-based branch pulmonary artery reinterventions, with 5 (inter-quartile range from 1 to 7) per patient, compared with 9 (inter-quartile range from 4 to 14) in Group 2, p = 0.009. Among patients who achieved ventricular septal defect closure, median right ventricle/left ventricle pressure was 0.48 in Group 1 compared with 0.78 in Group 2, p = 0.03. Overall mortality was 6 (17%) in Group 1 compared with 9 (21%) in Group 2.

Single-stage unifocalisation is a promising repair strategy in select patients, achieving low rates of reintervention for branch pulmonary artery restenosis and excellent mid-term haemodynamic outcomes. However, specific anatomic substrates of pulmonary artery/ventricular septal defect/major aortopulmonary collaterals may be better suited to multi-stage repair. Preoperative evaluation of collateral vessel calibre and function may help inform more patient-specific surgical management.

Screening instruments for autistic-spectrum disorders have not been compared in the same sample.

To compare the Social Communication Questionnaire (SCQ), the Social Responsiveness Scale (SRS) and the Children's Communication Checklist (CCC).

Screen and diagnostic assessments on 119 children between 9 and 13 years of age with special educational needs with and without autistic-spectrum disorders were weighted to estimate screen characteristics for a realistic target population.

The SCQ performed best (area under receiver operating characteristic curve (AUC)=0.90; sensitivity 0.86; specificity 0.78). The SRS had a lower AUC (0.77) with high sensitivity (0.78) and moderate specificity (0.67). The CCC had a high sensitivity but lower specificity (AUC=0.79; sensitivity 0.93; specificity 0.46). The AUC of the SRS and CCC was lower for children with IQ < 70. Behaviour problems reduced specificity for all three instruments.

The SCQ, SRS and CCC showed strong to moderate ability to identify autistic-spectrum disorder in this at-risk sample of school-age children with special educational needs.