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Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
This population-based study investigated the association of BMI and other predictors with gestational diabetes mellitus among Australian Aboriginal and non-Aboriginal mothers. We conducted a state-wide retrospective cohort study that included all singleton births in Western Australia between 2012 and 2015 using population health datasets linked by the Western Australian Data Linkage Branch.
More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.
Children 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.
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy.
Children with cerebral palsy face challenges in maintaining oral hygiene; data on their oral health practices and outcomes are limited.
Respiratory disease is a leading cause of hospitalisations in children with cerebral palsy (CP). Over 40% of individuals with CP are born preterm; however, the relationship between prematurity, CP and respiratory disease is unknown.
To evaluate the participation difficulties experienced by children with developmental coordination disorder in home, school, and community environments.