Research areas
Intellectual Disability
Fetal Alcohol Spectrum Disorder (FASD)
Rare Diseases
Movement Disorders
Family & Community
Measurement & Resources
Rett syndrome and related disorders
Measuring quality of life
Team
Reports and Findings
qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome
This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
Published research Rett Syndrome Child Disability Child disabilityEffects 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.
Published research Child Disability Developmental Coordination Disorder Child disabilityPatient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials
Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.
Published research Child Disability Child disability“Broken fragments or a breathtaking mosaic”: A mixed methods study of self-reported attributes and aspirations of siblings of individuals with and without neurodevelopmental conditions
Siblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.
Published research Child Disability Child disability