A5093686244- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital Heart Disease Studies
University of Alberta
2024
<title>Abstract</title> Snijders Blok-Campeau syndrome (SNIBCPS), a neurodevelopmental disorder first described in 2018, is caused by heterozygous pathogenic variants CHD3. Its encoded protein plays crucial role the development of nervous system embryos. While phenotypic traits have been broadly defined (i.e. global delays such as intellectual disabilities and delayed speech acquisition, physical features characteristic facial macrocephaly), spectrum has not further assessed. We present...
Abstract Background: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning quality of life. FXS is the most common cause inherited intellectual disability (ID) monogenetic ASD. Previous literature has shown electrophysiological activity measured by electroencephalogram (EEG) during resting state perturbated in However, whether profiles participants with ASD similar remains unclear. The aim this...