Characterisation of the clinical phenotype in Phelan-McDermid syndrome

ConclusionsThis study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis.

http://link.springer.com/10.1186/s11689-021-09370-5

Source: Journal of Neurodevelopmental Disorders - July 10, 2021 Category: Neurology Source Type: research