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Research

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome

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Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder

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EEG power at 3 months in infants at high familial risk for autism

Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.

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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

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Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

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Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.

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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

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The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.

Research

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.