We report 25 individuals with NDD linked to CMIP. Twenty out of 25 individuals (80%) presented with DD in early childhood. Eighteen out of 25 individuals (72%) had ID, which was borderline in three individuals, mild in nine, moderate in five and severe in one. Nine out of 25 (36%) had a history of seizures.
20 individuals (80%) had a formal or suspected neuropsychiatric disorder. ASD features were reported in 13 individuals, and attention-deficit/hyperactivity disorder (ADHD) features were observed in 11 individuals. Other psychiatric disorders were reported in 17 out of 25 individuals (68%), including oppositional defiant disorder, attachment disorder, Gilles de La Tourette syndrome, bipolar disorder, anxiety disorder, schizophrenia and substance abuse.
Failure to thrive was reported in 13/25 individuals (52%). Gastro-esophageal reflux disease (GERD) was reported in 10/25 individuals (40%). Ten out of 25 individuals (40%) were born premature, between 26 and 37 weeks of gestational age. Sleep disturbances were reported in 8/25 (32%), encompassing impairments in both sleep onset and sleep maintenance. Brain MRI was performed in 16/25 (64%) individuals, none of which revealed any clinically relevant abnormalities.
CMIP