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It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

Government early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management