This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.
Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.
Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type…
Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities
Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47…
This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.
We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.
We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a cal…
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
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…