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Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
A severe neurodevelopmental disorder mostly affecting girls.
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 are affected by rare disease.
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.