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Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual di…

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

Stereotypical hand movements

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database ... clapping are one of the most recogn…

Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

University of Sydney and (iv) the Australia-wide Rett syndrome cohort. Our data which we continue to use ... disorders: Down syndrome, Rett syndrome…

News and events

Rett syndrome news and events Discover the news and events of the Rett syndrome and related disorders

Rare Diseases

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population a…

HBF Run for a Reason 2014

On Sunday May 25th, the 'I love someone with Rett syndrome' team participated in the annual HBF Run

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, C…