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"You can't stop loving them" - a grandmother's story about her granddaughter who has Rett syndromeYou can't stop loving them: the gift of a grandchild can sometimes be painful, writes Wendy Macklin.
Research
Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samplesHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeHigh levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
Research
Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeWe aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.
Research
Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidenceA clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
Research
Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersRett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
Research
A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
Research
A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 LockdownRett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.