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Research

Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

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TREK2School Study

Gina Trapp BHSc(Hons1A), RPHNutr, PhD Honorary Research Associate Gina.Trapp@thekids.org.au ARC DECRA Fellow & Head of Food and Nutrition Research Dr

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Understanding autistic LGBTQA+ young people’s experiences of trauma: An intersectional approach

Recent research has consistently found significantly higher rates of gender and sexual diversity reported in the autistic population compared to the non-autistic population, and higher rates of autism reported in LGBTQA+ populations compared to cisgender and heterosexual populations

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Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome

To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.

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Uplift: Online self-compassion training for young people with chronic conditions

Amy Yael Asha Finlay-Jones Perry Parkinson BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BPsych (Hons) MPsych (Clin) PhD BPsych (Hons

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Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. 

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Screen Time and Parent-Child Talk When Children Are Aged 12 to 36 Months

Growing up in a language-rich home environment is important for children's language development in the early years. The concept of "technoference" (technology-based interference) suggests that screen time may be interfering with opportunities for talk and interactions between parent and child; however, limited longitudinal evidence exists exploring this association. 

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Children’s regenerative and genetic medicine program

The project aims to build capacity in regenerative medicine for children with respiratory diseases.

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Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age

This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.

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Immunogenicity of pneumococcal vaccine schedules in high-risk infants in Papua New Guinea

Deborah Lea-Ann Peter Peter Ruth Lehmann Kirkham Jacoby Richmond Thornton AO, MBBS, MSc PhD BA (Hons) MSc MBBS MRCP(UK) FRACP PhD Honorary Emeritus

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Breakfast skipping among children and adolescents in South Australia

Eating a regular, healthy breakfast is required to support good health, wellbeing and development throughout childhood and adolescence.

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Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...

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National School Readiness Project

Researchers at the Institute were engaged to undertake the National School Readiness Project, which aimed to describe current practice across education authorities in assessing or describing child development status at school entry and use evidence to identify areas where the scope/quality of curren