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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.

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways

Australia one step closer to COVID-19 shot for under 5s

Australia’s TGA has granted a provisional determination to Pfizer, allowing the pharmaceutical company to apply for approval to extend its COVID-19 vaccine to children aged 6 mths - 4 yrs.

Major grant supports innovative infant lung health study

A ground-breaking global clinical trial to improve the lifelong lung health of children born extremely prematurely has been awarded a Medical Research Future Fund (MRFF) International Clinical Trials Collaborations Grant totalling almost $3 million.

Kids cancer champion nominated for WA Australian of the Year

Dr Nick Gottardo, Co-Head of The Kids Research Institute Australia's Brain Tumour Research Team, has been announced a nominee for the 2018 WA Australian of the Year Award

Early Moves

The Early Moves study is investigating whether a baby’s early movements can predict difficulties with learning (known as cognitive impairment) later in childhood.

Corrigendum to “A Phase III, multicenter, randomized, double-blind, active comparator-controlled study to evaluate the safety, tolerability, and immunogenicity of V114 compared

Peter Richmond MBBS MRCP(UK) FRACP Head, Vaccine Trials Group Head, Vaccine Trials Group Professor Peter Richmond is Head of the Vaccine Trials Group