Neurological morbidity in a 22q11.2 deletion children population

We describe a high frequency of neuropsychiatric disorders in 22q11.2 deletion syndrome (22q11.2DS). Medical records of 71 children with 22q11.2SD into our database were reviewed. The mean age follow-up was 8.8 (SD 10.2) years, 37 boys (52.1%). The average age at diagnosis was 30.5 (SD ±74.2) months (significant differences in children with/without congenital heart disease 0.7 vs 32.64 months). In infant period (0-2 years) the neurological morbidity were motor coordination disorders (86.6%), epileptic disorders (60%) and microcephaly (44.4%). In the preschool (2-5 years) and school stage, the most frequent morbidity were childhood neurodevelopmental as disorders global delay in psychomotor development (98%), communication disorder (89.4%) and autism spectrum disorder (16%). In the school stage, learning disorders (96.6%), attention deficit hyperactivity disorder (86.4%) and cognitive disability 60%. Towards adolescence (10-18 years) the spectrum of schizophrenia and other psychotic disorders (18.5%) became evident and type parkinsonian motor disorders (11.1%). Conclusions: The variability of neuropsychiatric involvement in 22q11.2SD is age dependent. A systematic search for them is required for early treatment and rehabilitation. 1.-Van den Bree M, Challenger A, Cuthbert A, Ayllon MA, Clarke A, et al. Co-creating a knowledge base in the “22q11.2 deletion syndrome” community. J Community Genet. 2020 Jan;11(1):101–11. 2.-Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, et al. What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058–69.
Keywords: 22q11.2DS, epilepsy, neurodevelopmental disorder, seizures, psychosis, movement disorder