We are excited to share journal publications like this one resulting from FORWARD data. There are many more papers currently in development, and the future for Fragile X syndrome research is bright as more data is gathered.
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2
This paper, published in the Journal of Autism and Developmental Disorders, addresses the difficulty of diagnosing autism in Fragile X syndrome. Although individuals with FXS are commonly diagnosed with ASD, it is a challenging diagnosis because intellectual disability and co-occurring mental health conditions can be interpreted as autistic features. Two commonly used standard measures, the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS), were examined as potential tools for improving ASD diagnosis and characterization in FXS. Researchers scientifically analyzed the SCQ and SRS and compared it to the standard DSM5 method used across clinicians to diagnose ASD in FXS. To improve diagnostic accuracy of ASD, various methodological revisions were applied to the SCQ and SRS in order to improve sensitivity and specificity of the measures.
Although the revised SCQ and SRS have an improved sensitivity/specificity balance and may be better suited for identifying ASD in males with lower cognitive function and irritability/aggression, the diagnostic accuracy of these measures is still below optimal levels, reflecting to some extent the inherent difficulty of diagnosing ASD in intellectual disability. This research suggests there are differences between the diagnosis of FXS and FXS+ASD. More work needs to be done to examine additional modifications, beyond deletion of non-informative items, that can further improve the diagnostic potential of the SCQ and SRS in FXS.
Kidd SA, et al. (2019). Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2019, 1-20. doi: 10.1007/s10803-019-04148-0
About the FORWARD-MARCH Registry & Database
Since 2012, the CDC has funded four FORWARD Fragile X studies to expand understanding of Fragile X syndrome. The NFXF has been coordinating study efforts since the beginning and has been vital in ensuring its success.
FORWARD-MARCH is the next step and will collect more detailed information from participants to better understand FXS and improve the lives of children and adolescents with FXS and the lives of their families.
Below are more journal publications resulting from FORWARD data.
more from forward
Predictors of Attendance at Fragile X Clinics
Research Summary // Samples showed that children who attended Fragile X clinics were mostly male, high-school aged or younger, and white, non-Hispanic.
Cliniciansʼ Experiences with the Fragile X Clinical and Research Consortium
Research Summary // Suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes.
Featured image by Ayush Shakya from Pixabay