Search
In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
The breadth of available non-pharmacological interventions for autistic children, with varying evidence for efficacy summarised in multiple systematic reviews, creates challenges for parents, practitioners, and policymakers in navigating the research evidence. In this article, we report the findings of an umbrella review of 58 systematic reviews of non-pharmacological interventions for autistic children (aged 0–12 years).
We developed the iOS smartphone app Sun Safe to support healthy sun practices in young teenagers (aged 12-13 years). The production involved co-design with young co-researchers (ie, aged 12-13 years) with a health message of using sun protection when the UV index is ≥3. Important features include real-time and location-specific weather data on the UV index and gamified educational content.
Bronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy.
Pediatric acute lymphoblastic leukemia (ALL) therapy is accompanied by treatment-related toxicities (TRTs) and impaired quality of life. In Australia and New Zealand, children with ALL are treated with either Children's Oncology Group (COG) or international Berlin-Frankfurt-Munster (iBFM) Study Group-based therapy.
The majority of children acquire language effortlessly but approximately 10% of all children find it difficult especially in the early or preschool years with consequences for many aspects of their subsequent development and experience: literacy, social skills, educational qualifications, mental health and employment.
Many adolescents with diverse sexual orientations lead happy and fulfilled lives. However, evidence consistently suggests elevated rates of mental health difficulties in this population relative to heterosexual peers, and internalization of stigma (i.e., self-stigma) is implicated in these elevated rates. This study aimed to understand and describe the lived experience of self-stigma with respect to participants’ sexual orientations.
The economic and social development of nations relies on their population having physical access to services and employment opportunities. For the vast majority of the 3.4 billion people living in rural areas, this largely depends on their access to urban centers of different sizes.
Structural lung disease and neutrophil-dominated airway inflammation is present from 3 months of age in children diagnosed with cystic fibrosis after newborn screening. We hypothesised that azithromycin, given three times weekly to infants with cystic fibrosis from diagnosis until age 36 months, would reduce the extent of structural lung disease as captured on chest CT scans.
General practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting.