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It is unclear whether sex differences in behavior arising from birth weight (BW) are genuine because of the cross-sectional nature and potential confounding in previous studies. We aimed to test whether sex differences associated with BW phenotype were reproducible using a Mendelian randomization approach, i.e., association between polygenic score (PGS) for BW and behavior outcomes across childhood and adolescence.
Measures of autistic traits are only useful – for pre-diagnostic screening, exploring individual differences, and gaining personal insight – if they efficiently and accurately assess autism as currently conceptualised while maintaining psychometric validity across different demographic groups. We recruited 1322 autistic and 1279 non-autistic adults who varied in autism status (non-autistic, diagnosed autistic, self-identifying autistic) and gender (cisgender men, cisgender women, gender diverse) to assess the psychometric properties of the Comprehensive Autistic Trait Inventory, a recently developed measure of autistic traits that examines six trait domains using 42 self-report statements.
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Neurodevelopmental disorders (NDDs) have high comorbidity rates and shared etiology. Nevertheless, NDD assessment is diagnosis-driven and focuses on symptom profiles of individual disorders, which hinders diagnosis and treatment. There is also no evidence-based, standardized transdiagnostic approach currently available to provide a full clinical picture of individuals with NDDs. The pressing need for transdiagnostic assessment led to the development of the Neurodevelopment Assessment Scale.
The PEDI-CAT (ASD) is used to assess functioning of children and youth on the autism spectrum; however, current psychometric evidence is limited. This study aimed to explore the reliability, validity and acceptability of the PEDI-CAT (ASD) using a large Australian sample.
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
To investigate in a population-based pediatric cohort: prevalence of moderate-severe diabetic ketoacidosis at type 1 diabetes diagnosis over two decades and its association with long-term glycemic control.
Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.
The placebo effect is established in clinical trials, but for paediatric research, questions remain about how to best manage its influence. Within the autism field, data on these issues is sparse. This is particularly important in the oxytocin field where placebo responses are thought to play an important role. This study reports on data from the single-blind, placebo lead-in phase of a randomised controlled trial to investigate the placebo response and its relationship to treatment response in autistic children.