Search
Showing results for "autism"
Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Research
CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Research
Oral health education and promotion in special needs children: Systematic review and meta-analysisTo review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.
Research
Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
Research
Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
Research
Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
Research
Gastrointestinal dysmotility in rett syndromeThrough evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
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
News & Events
National Grants for Innovative Child Health ResearchPerth's Telethon Institute for Child Health Research has been awarded more than 3 million dollars from the National Health and Medical Research Council (NHMRC)
Research
Pre-service teachers’ experiences with students impacted by trauma in the school settingExperiencing trauma may adversely impact a child’s education, and research in this field requires a deeper understanding about how those working in the education system, specifically pre-service teachers, can respond and support children impacted by trauma. Pre-service teachers, who are our future teachers, play a role in recognising and helping children when signs of trauma are revealed, but risk re-traumatising children if not adequately trained during their university education.