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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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Overnight monitoring of sleep biomechanics: A scoping reviewBody position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.
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Investigating the Feasibility and Acceptability of a Facebook Delivered, Parent Mediated, Physical Activity Intervention for Children with Developmental Coordination DisorderChildren with Developmental Coordination Disorder (DCD) experience difficulties performing fundamental movement skills, resulting in reduced physical activity (PA). Given low PA can impact mental and physical health, improving PA in DCD appears imperative. This study investigates the feasibility of a Facebook delivered, parent mediated, PA intervention for children with DCD.
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Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency DisorderCDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.
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The longitudinal relationship between BOLD signal variability changes and white matter maturation during early childhoodIntra-individual transient temporal fluctuations in brain signal, as measured by fMRI blood oxygenation level dependent (BOLD) variability, is increasingly considered an important signal rather than measurement noise.
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Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and PerspectivesBy directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway.
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order.
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The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett SyndromeThe Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.
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Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive studyThis study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
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Australian children living with rare diseases: health service use and barriers to accessing careChildren 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.