This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
No validated oral health-related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabiliti…
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate.…
This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndr…
People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists…
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown cha…
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.