Search
Research
Choice making in Rett syndrome: a descriptive study using video dataWe describe the choice-making abilities of girls and women with Rett syndrome.
Research
Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialWe investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
Research
Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western AustraliaTo investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.
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
Research
Respiratory Health Inequities among Children and Young Adults with Cerebral Palsy in Aotearoa New Zealand: A Data Linkage StudyRespiratory disease is a leading cause of morbidity, mortality, and poor quality of life in children with cerebral palsy (CP). This study describes the prevalence of CP-related respiratory disease and the non-modifiable risk factors for respiratory-related hospital admissions in the Aotearoa New Zealand population.
Research
Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.
Research
Difficulties in developmental follow-up of preterm neonates in a randomised-controlled trialProbiotics may be neuroprotective for preterm neonates due to their anti-inflammatory effects and ability to facilitate nutrition. AIM: To assess long-term effects of early probiotic supplementation on neuropsychological development in preterm infants
Research
Transition to adulthood for young people with intellectual disability: the experiences of their familiesA number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood
Research
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysParents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
Research
Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndromeThe aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.