Publications by authors named "Barbara Gomez-Taylor"
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a developmental delay and autism spectrum disorder (ASD)-like behaviors. Emerging research suggests a link between gut microbiota and neuropsychiatric conditions, including PMS. This study aimed to investigate the fecal microbiota and immune profiles of children with PMS compared to healthy controls.
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- Phelan-McDermid syndrome is a rare genetic disorder linked to chromosome 22 alterations and is the focus of this research looking at prevalence and demographics in Spain.
- The study involved gathering clinical data from diagnosed patients over a twelve-year period, with molecular diagnosis confirmed through microarrays.
- Findings showed 201 diagnosed cases in Spain, mainly in Madrid, with a prevalence of 4 in 10,000 inhabitants, and an average diagnosis age of 6.67 years, suggesting more cases might exist unreported.