Search
Research
Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian databaseStereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
Research
InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Research
Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year PeriodWe describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database
Research
Rett Syndrome: Revised diagnostic criteria and nomenclatureThe purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Research
Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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.
Research
Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
Research
Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
Research
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
Research
Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome