Catherine Sullivan
Research Assistant PediatricsCards
About
Research
Overview
We are interested in studying the genetics of autism, regression and other childhood neurological disorders. Our primary focus is on Childhood Disintegrative Disorder (CDD), a rare form or autism in which a child is typically developing until at least age 3 and then experiences a major regression in which they lose skills such as social, language, play and toiletry. After regression, these children are diagnosis on the spectrum, and most with intellectual disorder. As regression is found in roughly 30% of children on the spectrum, we are interested in studying the potential genetic causes of regression as they may shed light on the biological pathways involved in CDD. You can find out more about the Yale CDD study here: https://campuspress.yale.edu/yalecddstudy
Links & Media
Media
- The difference in median expression levels (non-neocortical minus neocortical brain regions) is shown for genes affected by non-synonymous or synonymous variants in CDD probands, their unaffected siblings, SSC probands with regression, and SSC probands without regression. The number in parentheses indicates the number of subjects or variants, and the dark vertical line in each panel indicates birth. For potential CDD candidate genes, the difference reaches a maximum positive value at period six (mid-fetal stages); significance was confirmed by permutation testing with 100,000 iterations of 40 randomly selected genes (P = 0.0022). CDD childhood disintegrative disorder, SSC Simons Simplex Collection