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Research

The Sibling Project

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

Movement Disorders

Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.

Research

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.

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...

Research

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

Research

Respiratory morbidity in Rett syndrome: An observational study

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization

Research

Motor abnormalities in Rett Syndrome

For most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.

Research

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

Research

Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome