Search
Research
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Research
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
Research
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.
Research
Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trialIndividuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.
Research
Predicting Long-Term Survival Without Major Disability for Infants Born PretermApgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
Research
An investigation of the determinants of quality of life in adolescents and young adults with Down syndromeQuality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships
Research
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.
Research
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...
Research
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...
Research
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.