Search
Research
Trends in the diagnosis of Rett syndrome in AustraliaModifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
Research
Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatmentTo investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.
Research
The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Research
Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based studyAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Research
Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital settingThis population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
Research
Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
Research
Employing cognitive interviewing to evaluate, improve and validate items for measuring the health-related quality of life of women diagnosed with ovarian cancerUse of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes.
Research
Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factorIt is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.
Research
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.