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Research

A comparison of autism prevalence trends in Denmark and Western Australia

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...

Research

The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study

It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...

Research

The use of cross-jurisdictional population data to investigate health indicators of child maltreatment

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children

Research

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

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Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

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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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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...

Research

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

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The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

Research conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...