For children with autism spectrum disorder (ASD), a lifelong neurodevelopmental condition, assessment and treatment services vary widely across Canada-potentially creating inequities. To highlight this, the Preschool Autism Treatment Impact study compared children's services and outcomes in New Brunswick (NB) and Nova Scotia (NS). Diagnostic practices, service delivery models, wait times, and treatment approaches differed, as did children's 1-year outcomes and costs for families and the public sector. Considering NB and NS strengths, we suggest that an optimal system would include: rapid access to high-quality diagnostic and intervention services; adherence to research-informed practice guidelines; interventions to enhance parents' skills and self-efficacy; and measures to minimize financial burdens for families. Our results also suggest that provinces/territories must do more to ensure equitable access to effective services, including sharing and reporting on national comparative data. Canadian children with ASD deserve access to effective and consistent services, no matter where they live.
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http://dx.doi.org/10.1093/pch/pxaa097 | DOI Listing |
Sci Rep
December 2024
Omicron, Telefonvej 8D, 2nd, Søborg, 2860, Denmark.
We studied mortality and hospital contact in people from Thyborøn-Harboøre, an environmentally contaminated fishing community on the Danish West Coast. The population and a comparison group from other fishing communities on the Danish West Coast were identified from historical data in the Central Population Register. All persons were followed up for death and hospital contacts to March 2023.
View Article and Find Full Text PDFMol Autism
December 2024
Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.
View Article and Find Full Text PDFFront Psychiatry
December 2024
Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
Background: Eye tracking (ET) is emerging as a promising early and objective screening method for autism spectrum disorders (ASD), but it requires more reliable metrics with enhanced sensitivity and specificity for clinical use.
Methods: This study introduces a suite of novel ET metrics: Area of Interest (AOI) Switch Counts (ASC), Favorable AOI Shifts (FAS) along self-determined pathways, and AOI Vacancy Counts (AVC), applied to toddlers and preschoolers diagnosed with ASD. The correlation between these new ET metrics and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) scores via linear regression and sensitivity and specificity of the cut-off scores were assessed to predict diagnosis.
Mol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Background: Thyroid hormones (THs) are essential for brain development. Numerous studies have identified significant links between thyroid dysfunction and cognitive function. However, research on the significance and necessity of thyroid function tests in diagnosis of neurological disorders is limited and subject to controversy.
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