CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Original research article by S. Chénier et al. (2014).

Read the abstract here.

The researchers in this study describe 11 people with CHD2 changes, who were identified from a group of over 26,000 people with autism, intellectual disability, or developmental delay.

The genetic changes in all 11 people were de novo (not inherited from either parent). All 11 had a seizure disorder that began in childhood, experienced intellectual disability ranging from mild to severe, and had various delays ranging from a mild speech delay to severe/global delays. Two of the 11 had also had a curved spine (scoliosis). MRIs of the brain of all 11 appeared normal.