First Diagnostic Questionnaire for Assessing Patients’ Social Functioning in DDX3X Syndrome
Author Information
Author(s): Stefaniak-Preis Urszula, Kaczmarek Ada, Andrusiewicz Mirosław, Roszak Magdalena, Trzeszczyńska Natalia, Samborski Włodzimierz, Mojs Ewa, Malak Roksana, Carotenuto Marco
Primary Institution: Poznan University of Medical Sciences
Hypothesis
The study aims to identify differences in communication, play, and social interaction among children with ASD only, those with both ASD and DDX3X, and those with DDX3X only.
Conclusion
Identifying early behavioral markers that differentiate children with ASD and those with DDX3X could lead to better long-term outcomes.
Supporting Evidence
- Children with DDX3X exhibited greater social skills than those with ASD.
- Parents of children with DDX3X reported higher levels of social functioning compared to those with ASD.
- The questionnaire was distributed internationally to gather diverse responses.
- Significant differences were found in social skills, play, and communication domains between the two groups.
Takeaway
This study created a questionnaire to help find out if children have DDX3X syndrome, which can look like autism but has different signs.
Methodology
A custom-made questionnaire was used, divided into four sections: medical, social, play, and communication, and distributed to parents of children with ASD and DDX3X.
Limitations
The sample size is small due to the ultra-rare nature of DDX3X syndrome.
Participant Demographics
112 children, including 42 with ASD (14 females, 28 males) and 70 with DDX3X (4 males, 66 females).
Statistical Information
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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