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Research

Mental disorders in Australian 4- to 17- year olds: Parent-reported need for help

Many children and adolescents meeting Diagnostic and Statistical Manual of Mental Disorders, 4th edition criteria for mental disorders have a completely unmet need for help, especially those with conduct disorders.

Research

Production of IgG antibodies to pneumococcal polysaccharides is associated with expansion of ICOS+ circulating memory T follicular-helper cells which is impaired by HIV infection

Dysfunction of T follicular-helper cells is a possible cause of impaired germinal centre and IgG antibody responses in individuals with HIV

Research

ERS technical standard on bronchial challenge testing: General considerations and performance of methacholine challenge tests

This international task force report updates general considerations for bronchial challenge testing and the performance of the methacholine challenge test.

Parental origin of mutations

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

The range of expression of symptoms in girls and women with Rett syndrome

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

The diagnosis of autism in a female: could it be Rett syndrome?

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

The Natural History of Scoliosis in Females with Rett Syndrome

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.

Family satisfaction with spinal fusion

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

Predictors of seizure onset in Rett syndrome

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.

Guidelines, reports and books

We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.