Publications by authors named "Abby Hare-Harris"
Article Synopsis
- Increased population screening for genetic variants is being utilized to improve early detection and prevention of diseases, including neuropsychiatric disorders (NPDs), which are complex and genetically influenced but less commonly included in screening programs.
- The study aims to assess the suitability of incorporating pathogenic copy number variants (CNVs) linked to NPD in population screening by analyzing their prevalence, penetrance, and the personal relevance of such genetic information to individuals.
- Conducted with a cohort from Geisinger Health System, the research collected and analyzed exome data and electronic health records to determine NPD CNV frequency and examine participants' psychosocial reactions to receiving genetic results.
Background: Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic of autism spectrum disorder (ASD). We developed the Response Dispersion Index (RDI), a measure of this phenomenon based on intra-subtest scatter of item responses on standardized psychometric assessments, to assess the within-task variability among individuals with language impairment (LI) and/or ASD.
Methods: Standard clinical assessments of language were administered to 502 individuals from the New Jersey Language and Autism Genetics Study (NJLAGS) cohort.