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This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.
To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
Improving the lives of children with a disability and their families sits at the core of our team.
Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
Jenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow