Obesity Prevalence in DDX3X-Related Neurodevelopmental Disorder

The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X-related neurodevelopmental disorder (DDX3X-NDD). Initial descriptions suggested that individuals with DDX3X-NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to associated hypotonia. However, through a patient's parent, we came to learn that obesity was a common problem for older patients. To investigate this, we developed a survey to be distributed to caregivers of patients with DDX3X-NDD. The flyer contained a QR code to access an online and anonymous survey, with questions regarding the diagnosis of DDX3X-NDD and concerns about obesity in the affected child. Approximately 31% of the study population (n = 70) expressed concerns about obesity on the anonymous survey, and nearly half of this population found obesity to be a concern after the diagnosis of DDX3X-NDD. Common interventions that were implemented for obesity concerns included medications, visits with Endocrinology specialists, exercise regimens, and diet modifications. There is not a defined correlation between concerns for obesity and other medical diagnoses affecting this clinical symptom prevalence, since it is understood that autism can affect diet and weight. The degree of intellectual disability in those with obesity concerns and diagnoses of DDX3X-NDD was not established. Our findings suggest that while poor weight gain due to feeding difficulties in infancy is common, obesity is a common health concern for older DDX3X-NDD patients.