While the majority of CHD8 case reports in the literature do not mention OCD traits, Talkowski et al. reported the case of a patient diagnosed with ASD, intellectual disability and OCD in the context of CHD8 disruption by a de novo balanced translocation (61). Three cases reported by Bernier et al. mention repetitive motor movements, rare repetitive behaviors, repetitive play, and repetitive/scripted speech; four cases mention problems with anxiety (55). Repetitive behaviors and increased anxiety have been reported in Chd8 haploinsufficient mice (62). One hypothesis from these observations is that CHD8 may either directly or indirectly alter sensorimotor gating which underlies multiple phenotypes, including OCD, ASD, anxiety, and tics (63). Further investigation of CHD8 in OCD and more extensive phenotyping of OCD patients with CHD8 mutations will be important to gain further insight into the mechanisms underlying association.
