Maria Rosa Scopelliti
A5058621582- Voice and Speech Disorders
- Human Health and Disease
- Intensive Care Unit Cognitive Disorders
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Long-Term Effects of COVID-19
- Language Development and Disorders
- Stroke Rehabilitation and Recovery
- Genomic variations and chromosomal abnormalities
- Phonetics and Phonology Research
Fondazione IRCCS Istituto Neurologico Carlo Besta
2021-2023
Lombardy was severely hit by the COVID-19 pandemic since February 2020 and Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before pandemic, Televisits neither recognized nor priced. At Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient deliver Neuro-telemedicine services, including...
Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, patients with genetic alteration disrupting SHANK3 gene are very rare and they also disorder such as autism spectrum intellectual disability. The real incidence is unknown because mild phenotype could cause reduction in diagnosed cases. We describe the first case of microduplication gene, inherited from mother to son, that presents a “persistent” language speech sound main symptom without...