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Early Developmental Concerns in 22q11.2 Deletion and Duplication Carriers

Eve Kortanek, Department of Psychology, Carleton College, 300 North College Street, Northfield, MN 55057 Dr. Shafali Jeste, Dr. Carrie Bearden, Erin Nosco, Gabrielle MacNaughton, and Amy Lin, UCLA Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, 760 Westwood Plaza, Los Angeles, CA 90024

Chromosomal deletions and duplications at the 22q11.2 locus are among the most common copy number variations (CNVs) associated with neurodevelopmental disorders. Deletions cause multiple medical comorbidities, leading to velo-cardio-facial syndrome, and are also highly penetrant for schizophrenia later in life. Although these CNVs are often diagnosed early in development, there remains a limited number of studies examining their early developmental features. Developmental delays in this population often go undetected, remain untreated, and may worsen over time, resulting in profound effects on daily functioning. Studying early development in this population not only facilitates early intervention and could improve developmental outcomes for children with 22q11.2 deletions and duplications, but it also affords a unique opportunity to prospectively investigate early features of neurodevelopmental disorders such as Autism Spectrum Disorder. This study aimed to investigate general development and social communication skills in young children (age 5 and under) with 22q11.2 CNVs. We used an online survey including standardized caregiver questionnaires to evaluate aspects of early motor, social, and cognitive development in children with 22q11.2 deletions (N = 63) and duplications (N = 30). We found that the majority (> 85%) of caregivers of children with 22q11.2 deletions and duplications reported developmental concerns, with a high proportion (> 60%) reporting social communication concerns as well as global developmental concerns. Overall, proportions of reported concern were similar between 22q11.2 deletion and duplication carriers, with the exception of global concerns [X2 (1, N = 93) = 5.3, p = .021] and gross motor concerns [X2 (1, N = 93) = 9.2, p = .0024] reported more prevalently in 22q11.2 duplications. These findings suggest the need for close monitoring of development in 22q11.2 CNV carriers in order to initiate early interventions.




Additional Abstract Information

Presenter: Eve Kortanek

Institution: Carleton College

Type: Poster

Subject: Psychology

Status: Approved


Time and Location

Session: Poster 10
Date/Time: Wed 1:30pm-2:30pm
Session Number: 6645