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One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
Research
Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndromeTo 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.
Research
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trialCDKL5 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.
Research
Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.
Research
Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: A population-based cohort studyID and/or ASD were found to be associated with an increased risk of hospitalisation compared with the remainder of the population.
Research
Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancyThe aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.
Research
Variation over time in medical conditions and health service utilization of children with Down syndromeVariation over time in medical conditions and health service utilization of children with Down syndrome.
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Maths & making a differenceFor Perth researcher Ami Bebbington, mathematics is a vital tool in her personal and professional quest to improve the lives of children everywhere.
Research
Developing sensitive endpoints for respiratory disease progression in children with neuromuscular diseaseWe hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders.
Research
Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort studyThis study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.