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The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot studyThis study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
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Trends in the diagnosis of Rett syndrome in AustraliaModifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
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Longitudinal hand function in Rett syndromeLoss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...
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Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatmentTo investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.
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Impact of scoliosis surgery on activities of daily living in females with Rett syndromeScoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
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Predictors of seizure onset in Rett syndromeInformation on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...
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Parent-reported health-related quality of life of children with Down syndrome: A descriptive studyTo describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
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Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.