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Research
Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
Research
The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
Research
Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorderCyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.
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
Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
Research
Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort studyOur findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood
News & Events
Celebrating our STEM teamTo celebrate International Day of Women and Girls in Science, we asked our research team to share why they became researchers, how autism became their focus and for their top tip for girls interested in pursuing a STEM career.
News & Events
Congratulations to the Embrace 2023 Research Award winnersEmbrace 2023 Research Award winners Zoe Waters and Pulan Bai.
Research
Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samplesHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763