CDD Study: Childhood Disintegrative Disorder
Does your child have childhood disintegrative disorder (CDD) or autism spectrum disorder (ASD) with a history of normal development followed by a regression (loss of skills) around 3 years of age or later? We invite you to participate in the Yale CDD study.
About the study:
CDD is a rare form of ASD. It is characterized by late-onset regression leading to intellectual disability (ID) and severe autism. The causes of CDD are unclear, but our research group published the first neurogenetic analysis of this condition from a pilot study of 15 families (https://t2m.io/vbFgs3C). We conducted a multidisciplinary study consisting of: (1) expert clinical characterization, (2) genetics analysis, (3) analysis of brain function via functional magnetic resonance imaging (fMRI), and (4) quantification of social behaviors through eye tracking. We discovered differences between CDD and other forms of ASD at every level of analysis, which has important implications for how we recognize and treat CDD. Therefore, it is critical that we confirm our initial results. The aim of the current study is to identify additional families affected by CDD, so that we can continue neurogenetic analyses, such as the ones described above, in the future. In addition to the individual with CDD, we strongly prefer participation by both biological parents and any siblings, including half-siblings. However, since CDD is rare, we invite participation by the individual with CDD, including adoptees, and any subset of family members who are available.
What do we need from you to participate?
- Signing consent forms
- Completion of caregiver questionnaires
- Medical/educational records
- Home video clips of the individual with CDD before and after the regression and of any siblings at similar ages if possible
- Saliva samples from the individual with CDD and family members for future genetics analysis
You can read more about our work in Slate Magazine: https://t2m.io/0XADZs5
If you have any questions or are interested in participating in our study, please contact us by: email yale.cdd@yale.edu or phone (203) 868-0653.
Thank you!
Catherine Sullivan, MS (Study coordinator)
Abha Gupta, MD, PhD (Investigator)
Thomas Fernandez, MD (Investigator)
Study information
Study title: Neurogenetic analysis of regression in autism spectrum disorder
HIC: 0301024156