Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder

Abstract

Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene. Attention-deficit/hyperactivity disorder (ADHD) is considered a neurodevelopment and psychiatric disorder in childhood. Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD. Magnetic resonance imaging (MRI) has been used to assess medical images in Sotos syndrome and ADHD. The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial. In the future, genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.

Keywords: Sotos syndrome; Attention-deficit/hyperactivity disorder; Genetic mutation; Magnetic resonance imaging; Wavelet fusion

Core Tip: Nuclear receptor binding SET domain protein 1 (NSD1) gene mutation has been shown to be involved in the process of Sotos syndrome but without a confirmed effect on patients with attention-deficit/hyperactivity disorder (ADHD). The case report by Yang et al showed a meaningful result to indicate that NSD1 gene mutation existed in a pediatric patient with Sotos syndrome and ADHD.