Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

Showing results for "rett"

Research

Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood

Research

Autism risk associated with parental age and with increasing difference in age between the parents

Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age

Research

Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia

The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability

Research

Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.

Research

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review

Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

The CDKL5 Disorder

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 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.

Research

Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.

Research

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.