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Research

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy...

Research

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

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The role of family and maternal factors in childhood obesity

The aim of this study was to investigate the relationship between a child's weight and a broad range of family and maternal factors.

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Comparison of the immunogenicity and reactogenicity of a prophylactic quadrivalent human papilloma Virus

We conducted a noninferiority immunogenicity study to bridge the efficacy findings in young women to preadolescent and adolescent girls and boys...

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Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

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Inner speech impairments in autism

Three experiments investigated the role of inner speech deficit in cognitive performances of children with autism.

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Independent effects of socioeconomic status and place of residence on the incidence of type 1 diabetes in Western Australia

To analyze the incidence of type 1 diabetes in 0- to 14-year olds in Western Australia, from 1985 to 2002, by region and socioeconomic status.

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Centralising Local Aboriginal Language and Culture in Healthy Skin Books on the See Treat Prevent (SToP) Trial in the Kimberley Region of Western Australia: A Process and Impact Inquiry

Language is significant for communicating knowledge across cultures and generations and has the power to attribute meanings and alter our worldviews. More than 250 Aboriginal and Torres Strait Islanders languages were spoken in 1788. This number has diminished to approximately 110 languages spoken in 2016, of which 90% were considered endangered in 2019. Language custodians and speakers across Australia are working to preserve and ensure languages are strongly spoken into the future.

Research

Acute rheumatic fever

Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.

Research

Recovery of culturable Streptococcus pyogenes from swabs stored at different temperatures

Improving our understanding of superficial Streptococcus pyogenes (Strep A) carriage and transmission necessitates robust sampling methods. Here, we compared the effect of storing swab samples in fridge (+4°C) and freezer (-20°C) conditions on the recovery of laboratory-cultured S. pyogenes.