Search
Research
Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Research
Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
Research
The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
Research
Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
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.
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
Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeHigh levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome