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Research

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.

National Siblings Day is a holiday dedicated to celebrating the bond between siblings. It is a time to recognize the importance of siblings, whether they are brothers, sisters, step-siblings, or even those who feel like family.

We want to hear from siblings living outside of Australian cities!

Research

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.