Search
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
Research
"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groupsJenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.
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
Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Research
Motor abnormalities in Rett SyndromeFor 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 familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis