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About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.
If there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.
Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...
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
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
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management