TY - JOUR
T1 - Developmental trajectories for young children with 16p11.2 copy number variation
AU - On behalf of the Simons VIP consortium
AU - Bernier, Raphael
AU - Hudac, Caitlin M.
AU - Chen, Qixuan
AU - Zeng, Chubing
AU - Wallace, Arianne Stevens
AU - Gerdts, Jennifer
AU - Earl, Rachel
AU - Peterson, Jessica
AU - Wolken, Anne
AU - Peters, Alana
AU - Hanson, Ellen
AU - Goin-Kochel, Robin P.
AU - Kanne, Stephen
AU - Snyder, Lee Anne Green
AU - Chung, Wendy K.
AU - Alupay, H.
AU - Aaronson, B.
AU - Ackerman, S.
AU - Ankenmann, K.
AU - Atwell, C.
AU - Aylward, E.
AU - Beaudet, A.
AU - Benedetti, M.
AU - Berman, J.
AU - Bernier, R.
AU - Bibb, A.
AU - Blaskey, L.
AU - Brewton, C.
AU - Buckner, R.
AU - Bukshpun, P.
AU - Burko, J.
AU - Cerban, B.
AU - Chen, Q.
AU - Cheong, M.
AU - Chu, Z.
AU - Dale, C.
AU - Dempsey, A.
AU - Elgin, J.
AU - Olson, J.
AU - Evans, Y.
AU - Faucett, W. A.
AU - Fischbach, G.
AU - Garza, S.
AU - Gerdts, J.
AU - Gobuty, S.
AU - Goin-Kochel, R.
AU - Grant, P. E.
AU - Green Snyder, L.
AU - Greenup, M.
AU - Hanson, E.
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/6
Y1 - 2017/6
N2 - Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4-BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other domains. Nonparametric analyses suggest distinct trajectories and early cognitive abilities for deletion carriers who are ultimately diagnosed with intellectual disability and developmental coordination disorder as well as distinct trajectories and early social communication and cognitive abilities for duplication carriers diagnosed with ASD and intellectual disability. Findings provide predictions for patient developmental trajectories, insight into mean functioning of individuals with 16p11.2 at early ages, and highlight the need for ongoing monitoring of social and motor functioning and behavioral symptomatology to improve treatment planning.
AB - Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4-BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other domains. Nonparametric analyses suggest distinct trajectories and early cognitive abilities for deletion carriers who are ultimately diagnosed with intellectual disability and developmental coordination disorder as well as distinct trajectories and early social communication and cognitive abilities for duplication carriers diagnosed with ASD and intellectual disability. Findings provide predictions for patient developmental trajectories, insight into mean functioning of individuals with 16p11.2 at early ages, and highlight the need for ongoing monitoring of social and motor functioning and behavioral symptomatology to improve treatment planning.
KW - 16p11.2 deletion
KW - 16p11.2 duplication
KW - autism spectrum disorder
KW - copy number variation
UR - http://www.scopus.com/inward/record.url?scp=85016395544&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.32525
DO - 10.1002/ajmg.b.32525
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C2 - 28349640
AN - SCOPUS:85016395544
SN - 1552-4841
VL - 174
SP - 367
EP - 380
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
IS - 4
ER -