Comorbidities - microcephaly, facial dysmorphia and epilepsy - increase the risk of the pathogenic CNV finding in patients with intellectual disability and autism

CNV are known to be a frequent cause of the autism spectrum disorders (ASD) and intellectual disabilities (ID). However, the clinical heterogeneity of both disorders causes the diagnostic efficacy of CNV analysis to be modest. We conclude that comorbidities such as microcephaly, facial dysmorphia and epilepsy increase the risk of the pathogenic CNV finding in patients with ID and ASD. However, the significance of these comorbidities differs between both groups and shows dependency on whether the patients were primarily classified as ID or ASD. We suggest that stratification of the patients according to their comorbidities before testing can increase the yield of the detection rate of pathogenic CNV in both groups. The likelihood of pathogenic CNV detection in ASD patients without any comorbidities is low. Therefore, the effectivity of CNV analysis in these cases is modest 204 patients were analyzed by aCGH and MLPA proceadures. Cytoscan HD and GenomeWideSNP_6 (Affymetrix, Santa Clara, CA, USA) were used for CNV analysis of 112 patients with ID (N=29) and ASD (N=83) according to the manufacturers’ protocols.