Search
Research
Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Research
Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
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.
Research
EEG power at 3 months in infants at high familial risk for autismReduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.
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
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
Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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
An exploration of the use of eye gaze and gestures in females with rett syndromeEye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities