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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Severe Congenital Heart Defects and Cerebral Palsy

To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.

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. 

Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability

Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe. 

“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.

Risk of otitis media in offspring following maternal prenatal stress exposure

There is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age. 

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.

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.

Siblings of Individuals With Neurodevelopmental Conditions: Perspectives on Risk, Resiliency and Future Research Directions

Siblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.