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Research
Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
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Co-design of the neurodevelopment assessment scaleNeurodevelopmental disorders (NDDs) have high comorbidity rates and shared etiology. Nevertheless, NDD assessment is diagnosis-driven and focuses on symptom profiles of individual disorders, which hinders diagnosis and treatment. There is also no evidence-based, standardized transdiagnostic approach currently available to provide a full clinical picture of individuals with NDDs. The pressing need for transdiagnostic assessment led to the development of the Neurodevelopment Assessment Scale.
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Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disordersClinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.
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Psychosocial predictors of problem gambling severity in males: findings from a longitudinal study of Australian menGambling disorder has emerged as a significant public health issue in Australia. Men are more likely than women to gamble and to develop gambling disorder. This study aimed predict men’s problem gambling severity using a multivariate approach comprised of different indicators of psychosocial functioning, past gambling behavior, and demographics (age and socioeconomic disadvantage).
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Ethnicity and anthropometric deficits in children: A cross-sectional analysis of national survey data from 18 countries in sub-Saharan AfricaChild anthropometric deficits remain a major public health problem in Sub-Saharan Africa (SSA) and are a key target of the UN Sustainable Development Goals (SDGs). The SDGs recommend disaggregation of health indicators by ethnic group. However, few studies have assessed how ethnicity is associated with anthropometric deficits across SSA.
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Estimating the impact of imported malaria on local transmission in a near elimination setting: a case study from BhutanBhutan has achieved a substantial reduction in both malaria morbidity and mortality over the last two decades and is aiming for malaria elimination certification in 2025. However, a significant percentage of malaria cases in Bhutan are imported (acquired in another country). The aim of the study was to understand how importation drives local malaria transmission in Bhutan.
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Inclusion of genital, sexual, and gender diversity in human reproductive teaching: impact on student experience and recommendations for tertiary educatorsWestern societal norms have long been constrained by binary and exclusionary perspectives on matters such as infertility, contraception, sexual health, sexuality, and gender. These viewpoints have shaped research and knowledge frameworks for decades and led to an inaccurate and incomplete reproductive biology curriculum. To combat these deficiencies in reproductive systems-related education, our teaching team undertook a gradual transformation of unit content from 2018 to 2023, aiming to better reflect real diversity in human reproductive biology.
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Prenatal Origins of Obstructive Airway Disease: Starting on the Wrong Trajectory?From the results of well-performed population health studies, we now have excellent data demonstrating that deficits in adult lung function may be present early in life, possibly as a result of developmental disorders, incurring a lifelong risk of obstructive airway diseases such as asthma and chronic obstructive pulmonary disease.
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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic reviewCommunication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments.
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The use of psychotropic medications in autistic individuals (21 years and younger) in Western Australia: A preliminary investigationPrescriptions and use of medications to treat mental health conditions in young autistic populations are inconsistent worldwide. This makes it hard to compare findings from international studies to the Australian autistic population, where there are limited relevant studies. Apart from risperidone, there are no other medications specified for direct use in autistic persons. This study aims to gain initial broad understanding of the use of medications, commonly prescribed for mental health conditions, specifically by autistics under the age of 21 years.