Baylor College of Medicine

Refining Metrics Of Food Behavior In Smith-Magenis Syndrome (H-51761)

Description

Content

Background

Smith-Magenis Syndrome (SMS) is a genetic syndrome caused by mutations in the RAI1 gene or deletions of the 17p11.2 chromosome. Individuals with SMS commonly experience excessive weight gain which leads to obesity, and current clinical trials are underway to treat obesity in this population. The exact causes exacerbating weight gain in this population are not known, as not all patients suffer from obesity. In addition to cognitive impairments, adults and children with SMS also suffer from anxiety, behavioral disturbances, and sleep disorder. How each of these comorbidities contribute to the presence or absence of food-related behaviors, such as preoccupation with food, emotional outbursts around food availability, and sneaking/hiding food, in SMS is unknown. Our previous data show that there is a discrepancy between measures of satiety in currently available questionnaires and the need for caregivers to lock away food. These findings indicate that the current measures do not adequately assess the satiety and food-related behavior concerns for the SMS population. Since these questionnaires were not created for the SMS population, it is likely they are missing important features necessary to fully measure the food-related behavioral phenotype in SMS.

Purpose and Objectives

The purpose of this study is to create and validate a clinical measure of food-related and problem behaviors specific to the SMS population to address obesity, hyperphagia, and food-related concerns.

Our objective is to create, test and validate a SMS Food-Related Behavior Questionnaire (SMS-FRBQ) which encompasses problems and concerns specific to the SMS population. A second objective is to translate the measure into Spanish and pilot test the Spanish version.

Get in touch with us at (713) 798-9316 or Sisley.Lab@bcm.edu.

IRB: H-51761

Status:

Active

Created:

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