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Despite the availability of five guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD), there is no national endorsement for their use in...
This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
The objective was to investigate the association between heavy prenatal alcohol exposure and stillbirth.
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
To assess the effectiveness of alcohol documentation and to measure the practice of health practitioners in relation to asking about alcohol and pregnancy.
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
When examining the association between prenatal alcohol exposure and fetal effects, the timing and intensity of exposure have been ignored in epidemiological st
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...
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
The goal was to examine the associations between dose, pattern, and timing of prenatal alcohol exposure (PAE) and birth defects.
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
Alcohol exposure in pregnancy is a common and modifiable risk factor for poor pregnancy and child outcomes.
There is a lack of evidence regarding the effect of dose, pattern and timing of prenatal alcohol exposure and behaviour problems in children aged 2 years.
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
Senior Principal Research Fellow; Director, FASD Research Australia
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...
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
A huge congratulations to The Kids Research Institute Australia founding researcher, Emeritus Professor Carol Bower, who has been recognised in the King’s Birthday Honours for her profound impact on child and public health over a 40-year career.