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Novel findings in relation to genotype

Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.

We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique

Join a Focus Group for the Sibling Support Study! Researchers from The Kids Research Institute Australia are conducting research which explores the

Research

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Research

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.

Research

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Research

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.