CHD2 < /em>haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems< /strong> < /h2>

Original research article by S. Chà ©nier   et al. < /em> (2014) . < /p>

Read the abstract here< /a> . < /p>

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

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. < /p>