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Head, Child Disability

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.

Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.

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.

Research

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Research

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

Research

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.