Often misdiagnosed as other conditions such as Rett syndrome or cerebral palsy, DDX3X mutations cause both cognitive and physical difficulties. Since only an estimated 700 patients have been diagnosed worldwide, it is crucial to deepen the medical understanding of these mutations, symptoms, and potential therapies. According to Spectrum News, new research presented during the 2021 International Society for Autism Research annual meeting furthered DDX3X insights. For example, researchers determined that DDX3X mutations increase the risk of anxiety and self-harming behavior.
Anxiety & Self-Harming Behavior
Within this particular study, researchers wanted to understand the symptoms and characteristics associated with DDX3X mutations as compared to other types of cognitive or intellectual disabilities. Altogether, 20 girls and women with DDX3X syndrome enrolled in the study. The researchers compared their data to that of 23 girls and women with other conditions. Patient ages ranged from 3-26. Some findings discovered:
- Although 10% of patients in each group noted that they did not struggle socially, or had a small amount of social difficulties, many patients reported social problems.
- Patients within the first group had higher anxiety and significantly higher rates of self-harming behaviors like head banging (47% vs. 17%).
- Additionally, parents of those with DDX3X self-reported higher amounts of self-harming behavior such as pulling hair, hitting, or biting that seemed to correlate to rising stress or anxiety levels.
Altogether, this suggests that medical professionals should be aware of potentially higher anxiety in those with this condition, which could improve patient outcomes moving forward.
DDX3X mutations almost exclusively affect females, as the mutation is located on the X chromosome. Previously misdiagnosed, these mutations were really discovered in 2015 – just six years ago! These mutations occur spontaneously. Thus, this condition can occur in patients with no family history. DDX3X symptoms and manifestations vary greatly from patient to patient. While some patients can speak in full sentences or run and jump, others are unable to. Some potential symptoms include:
- Developmental delays
- Intellectual disability
- Microcephaly (unusually small head)
- Hypotonia (low muscle tone)
- Movement disorders
- Brain abnormalities
- Speech difficulties
Learn more about DDX3X here.