Reports and Findings

Research

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.

Research

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.

Research

Lurasidone is a new second generation (atypical) antipsychotic agent with unique receptor affinity and side-effect profiles, but limited literature is available on its use in adolescent populations. Contrasting with research treatment trials which typically recruit patients by stringent selection criteria, this case series examined the effects and tolerability of using lurasidone in adolescents within real-life clinical settings in treating complex cases who had not responded to other therapy options. We conducted a retrospective case-note audit of 6 adolescents aged 14 to 17 years old attending community child and adolescent mental health services (CAMHS) who were prescribed lurasidone.

Research

Recent studies in very premature infants (<32 weeks gestation) have shown that early commencement of parenteral nutrition immediately after birth improves physical growth. However, there are concerns that early use of very high dose of amino-acids (>3.5 g/kg/day immediately after birth) may cause metabolic acidosis, elevated blood urea, slower head growth and refeeding-hypophosphatemia syndrome. A recent multicentre randomized controlled trial found that commencement of parenteral nutrition within 24-h of admission increases the risk of infections and prolongs the duration of ventilation and ICU stay in full-term neonates, older infants and children. The study also found that delaying to day 8 of admission increased the risk of hypoglycaemia.

Research

To assess the safety of live attenuated herpes zoster vaccine live (ZVL) through cumulative analysis of near real-time, participant-based active surveillance from Australia's AusVaxSafety system. ZVL was funded in Australia for adults aged 70 years from November 2016, with a time-limited catch up programme for those up to 79 years. This cohort study monitored safety in the first two programme years through active surveillance at 246 sentinel surveillance immunisation sites.

Research

To investigate the associations between interpregnancy intervals (IPIs) and developmental vulnerability in children's first year of full-time school (age 5). A retrospective cohort study using logistic regression. ORs were estimated for associations with IPIs with adjustment for child, parent and community sociodemographic variables.

Research

The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults' satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.

Research

A search strategy was developed to identify tools used to evaluate standard and teleaudiology hearing aid rehabilitation services for adults. A seven-domain hearing-health-care service model for validation was defined and used to analyse the applicability and suitability of patient- and service-centred tools. This model and the applicability and suitability criteria were based on the literature, the International Classification of Functioning (ICF) framework, and gold standard professional practice guidelines, which together formed the validation framework used in this study.

Research

To characterise somatosensory discrimination impairment of the upper-limb across domains of tactile discrimination, limb position sense and haptic object recognition using the sense_assess© kids and examine associations with upper-limb motor performance in children with hemiplegic cerebral palsy (CP).

Research

Serum 25 hydroxyvitamin D [25(OH)D] levels of pregnant women have been linked to various health outcomes in their offspring. Satellite-derived ultraviolet radiation (UVR) data have been used as a proxy for 25(OH)D levels, as individual-level cohort studies are time-consuming, costly and only feasible for common outcomes.