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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Research
Motor abnormalities in Rett SyndromeFor most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.
Research
Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
Research
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.