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Research

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

Research

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist

Research

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.

Research

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder

Research

Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

The 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

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

Research

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

Research

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

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