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Cause-Specific Secular Trends and Prevention Measures of Post-Neonatally Acquired Cerebral Palsy in Victoria and Western Australia 1975–2014: A Population-Based Observational StudyTo describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.
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Content Validation of the Communication Inventory Disability–Observer Reported CID-ORCDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.
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Factors influencing public perceptions of child neglect: A mixed methods studyMore 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.
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Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular DisordersNeuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.
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Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trialsCDKL5 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).
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Mandatory fortification with folic acid for the prevention of neural tube defects: a case study of Australia and New ZealandTo present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand.
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Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010Children 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.
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Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based studyUnderstanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.
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Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor StructureRett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.