Publications by authors named "Lisa Frugere"
Article Synopsis
- The study aimed to compare imaging and genetic findings in fetuses with corpus callosum abnormalities identified through prenatal exome sequencing (pES) between 2018 and 2020.
- A total of 113 fetuses were included, revealing pathogenic/likely pathogenic (P/LP) genetic variants in certain types of abnormalities, with significant findings in cases with associated cerebellar issues.
- The results indicated that P/LP variants were more common in non-isolated conditions and certain types of callosal dysgenesis, but no variants were found for isolated short CC, interhemispheric cysts, or pericallosal lipoma.
Despite advances in neurogenetics of autism spectrum disorders (ASD), many patients fail to be systematically investigated, owing to preconceived ideas, limited access to genetics facilities and inadequacy of consultations to children with behavioural problems. To improve access to services, we reversed the paradigm and delivered on-site genetics consultations to ASD children of Greater Paris day care hospitals and specialized institutions. Since 1998, an ambulatory medical genetics team has been in operation, offering on-site consultations and services to patients and relatives in their usual environment.
View Article and Find Full Text PDFBackground: Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated.
Methods: To improve access to services, an ambulatory team has been established since 1998, delivering on-site clinical genetics consultations and gradually upgrading services to 502 children and young adults with ASD in their standard environment across 26 day-care hospitals and specialized institutions within the Greater Paris region.