Development and Behavior among Children with Dup15q Syndrome (P11-5.002)

Objective: To examine natural change in cognitive, language and adaptive behavior abilities in children with Dup15q Syndrome over 1–2 years.

Background: Maternal 15q duplication syndrome is a neurodevelopmental disorder characterized by motor delays, epilepsy, intellectual disability, and autism spectrum disorder (Lusk et al, 2016). Individuals with isodicentric duplications and epilepsy generally present with a more severe phenotype (DiStefano et al, 2020), though there have been no studies examining longitudinal development.

Design/Methods: As part of a larger study examining the behavioral phenotype within Dup15q Syndrome (DiStefano et al, 2020), 16 participants were evaluated ~24 months apart via direct testing of cognitive development (Mullen Scales of Early Learning [MSEL]) and/or parent report of adaptive behavior (Vineland Adaptive Behavior Scales [VABS]). Analysis focused on two aims:

1. Examine whether participants gained skills, lost skills, or remained consistent over time.

2. Determine whether epilepsy status or duplication type were associated with skill growth.

Results:

1. 12 out of 12 participants tested showed skill growth in at least one domain on the MSEL, compared to 9 out of 13 participants on the VABS. Of the domains, gross motor was comparative across both assessments: On MSEL, 7 out of 8 children with gross motor testing gained skills, 1 showed loss of skills. On VABS, 6 out of 8 children gained skills, 2 children showed loss.

2. Of 7 children who gained skills in the gross motor domain