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Down Syndrome Clinical Trial- BTD-001

Helen Jenny Peter Leonard Downs Richmond MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Head, Child Disability

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

Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

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

Fetal head circumference growth in children with specific language impairment

The aim was to characterise fetal brain growth in children with specific language impairment (SLI). A nested case-control study was set in Perth, WA.

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Free testosterone levels in umbilical cord blood predict infant head circumference in girls

Fetal androgens influence fetal growth as well as postnatal neurocognitive ability.

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

Re-analysis of the association between perinatal androgens and postnatal head circumference growth

This paper is a correction of an earlier report that identified a link between exposure to high levels of testosterone during pregnancy and reduced head...

Maternal serum vitamin D levels during pregnancy and offspring neurocognitive development

The objective was to determine the association between maternal serum 25(OH)-vitamin D concentrations and behavioural, emotional and language outcomes...