The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Abstract

Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder, anxiety, and increased rates of tantrums and aggressive behavior. Here, we introduce and phenotype a novel cohort of 25 patients with molecularly confirmed Sotos syndrome. We also present the detailed behavioral histories of two patients and provide guidance for managing the behavioral manifestations of Sotos syndrome, highlighting the importance of a multidisciplinary approach to care for patients with this complex overgrowth condition.