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It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
Jeffrey Jonathan Judy Cannon Carapetis AM Katzenellenbogen BSc(Hons) BBus PhD AM MBBS FRACP FAFPHM PhD FAHMS BSc (Occ Ther) BSc Hons (Epidemiol) MSc
Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.
Young adults who are lesbian, gay, bisexual, trans, queer or questioning, intersex, asexual and other diverse genders and sexualities (LGBTQIA+) are more likely to experience mental health difficulties and are at significantly elevated risk of substance abuse, self-harm and suicide, relative to their heterosexual, endosex and cisgender peers. There is a need for effective mental health interventions for LGBTQIA+ young adults. Mindful Self-Compassion training is a promising approach; among LGBTQIA+ individuals, self-compassion accounts for more variation in mental health outcomes than bullying, victimization, and adverse childhood experiences combined. Furthermore, LGBTQIA+ individuals with high self-compassion report more positive identity and happiness, less self-stigma, and lower suicidality than those with low self-compassion.
Benzathine penicillin G (BPG) is used as first-line treatment for most forms of syphilis and as secondary prophylaxis against rheumatic heart disease (RHD). Perceptions that poor quality of BPG is linked to reported adverse effects and therapeutic failure may impact syphilis and RHD control programs. Clinical networks and web-based advertising were used to obtain vials of BPG from a wide range of countries.
This study tested a new program for helping smokers with severe mental illness to reduce their tobacco use, together with determining the feasibility of such research in community mental health settings in Australia.
Immunity is distinct in early life and greater precision is required in our understanding of mechanisms of early life protection to inform development of new pediatric vaccines
Benefits in teaching the Alert Program® to students in a region with high reported rates of foetal alcohol spectrum disorder and self-regulation impairment
We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations