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Implications of providing wrist-hand orthoses for children with cerebral palsy: evidence from a randomised controlled trialTo investigate the effects of providing rigid wrist-hand orthoses plus usual multidisciplinary care, on reducing hand impairments in children with cerebral palsy.
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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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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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Motor problems in autism: Co-occurrence or feature?Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder for autistic individuals with significant motor problems.
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Is sleep captured during a standard daytime EEG sufficient to diagnose Electrical Status Epilepticus in SleepElectrical Status epilepticus of sleep (SES) is an EEG pattern where there is significant activation of epileptiform activity in NREM sleep. A spike wave index (SWI) of > 80-85% is often labelled as typical SES. We aimed to explore if sleep during a standard daytime-EEG, as compared an overnight-EEG, was adequate to diagnose ESES.
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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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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.
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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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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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Participate CP 2: optimising participation in physically active leisure for children with cerebral palsy - protocol for a phase III randomised controlled trialChildren with cerebral palsy (CP) participate less in physical activities and have increased sedentary behaviour compared with typically developing peers. Participate CP is a participation-focused therapy intervention for children with CP with demonstrated efficacy in a phase II randomised controlled trial (RCT) to increase perceived performance of physical activity participation goals. This study will test the effectiveness of Participate CP in a multisite phase III RCT.