Obesity Prevalence in DDX3X-Related Neurodevelopmental Disorder.

Area of Science:

• Genetics and Neurology
• Pediatric Health
• Metabolic Disorders

Background:

• DDX3X-related neurodevelopmental disorder (DDX3X-NDD) was initially associated with failure to thrive.
• Anecdotal evidence suggested obesity is prevalent in older DDX3X-NDD patients.
• Feeding difficulties and hypotonia are common early symptoms.

Purpose of the Study:

• To investigate the prevalence of obesity in individuals with DDX3X-NDD.
• To understand caregiver concerns regarding obesity in this population.
• To explore interventions for obesity in DDX3X-NDD.

Main Methods:

• Development of an anonymous online survey for caregivers of DDX3X-NDD patients.
• Distribution of surveys via flyers with QR codes.
• Data collection on diagnosis and obesity concerns.

Main Results:

• Approximately 31% of surveyed caregivers (n=70) expressed concerns about obesity.
• Nearly half of those with concerns identified obesity as an issue after DDX3X-NDD diagnosis.
• Interventions included medications, specialist visits, diet, and exercise modifications.

Conclusions:

• Obesity is a significant health concern for older individuals with DDX3X-NDD.
• Findings contrast with earlier observations of poor weight gain in infancy.
• Further research is needed to explore correlations with other conditions like autism and intellectual disability.