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Showing results for "Neuromuscular disorders "

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

“Correlation doesn’t equal causation”: Autism and caesarean sections

A new study that combines data from over 20 million births has found that a caesarean section delivery is associated with autism spectrum disorder (autism) and attention-deficit hyperactivity disorder (ADHD).

Young minds really do matter

The Young Minds Matter survey has shown mental health services should be overhauled to ensure they are tailor-made to meet the needs of a new generation.

Prevention of neural tube defects with folate

A programme of monitoring mandatory fortification has been established in Australia.

Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: A systematic analysis

Measuring disease and injury burden in populations requires a composite metric that captures both premature mortality and the prevalence and severity of...

Increased mortality among Indigenous persons during and after release from prison in New South Wales

The objective of this study was to estimate the overall and cause specific mortality of Aboriginal offenders in New South Wales (NSW), Australia.

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility.

Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis

Abnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in a