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Laqueisha's story: living with RHDLaqueisha was just five years old when she was diagnosed with rheumatic heart disease and sent on a 5,000km return trip to Perth for major heart surgery.
The ESDM aims to promote a child’s development across all domains, including language, joint attention, imitation, cognition, play and social skills, and fine and gross motor skills.
At CliniKids, the JASPER approach is for preschool and school-aged children who have differences in play and social communication skills.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.