Work

Early developmental concerns in 22q11.2 deletion and duplication carriers

Year: 2022

Type: article

Abstract: Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL ( N = 63) or 22qDUP ( N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires—the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC)—screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk.

Source: Research in Autism

DOI: 10.1016/j.rasd.2022.102026