Search
Research
Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysisNonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy
Research
Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort studyConception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy
Research
Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance systemThe IDEA system is a valuable resource to address the needs of people living with intellectual disability
Research
Exploring enablers and barriers to accessing health services after a fall among people with intellectual disabilityThere is an urgent need to develop high-quality falls prevention services for older adults with intellectual disability
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.
Research
Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeHigh levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
Research
Children and adolescents with type 1 diabetes in Australasia: An online survey of model of care, workforce and outcomesSurvey of the model of care and workforce that manages children and adolescents with type 1 diabetes in Australasia along with glycaemic outcomes
Research
Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Research
Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual DisabilityMothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders
Research
Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome