title: Developmental trajectories for young children with 16p11.2 copy number variation.
abstract: 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. © 2017 Wiley Periodicals, Inc.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Raphael
authors.initials: R
authors.lastname: Bernier
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Caitlin M
authors.initials: CM
authors.lastname: Hudac
authors.affiliation: Department of Biostatistics, Columbia University, New York, New York.
authors.forename: Qixuan
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of Biostatistics, Columbia University, New York, New York.
authors.forename: Chubing
authors.initials: C
authors.lastname: Zeng
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Arianne Stevens
authors.initials: AS
authors.lastname: Wallace
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gerdts
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Rachel
authors.initials: R
authors.lastname: Earl
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Jessica
authors.initials: J
authors.lastname: Peterson
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Anne
authors.initials: A
authors.lastname: Wolken
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
authors.forename: Alana
authors.initials: A
authors.lastname: Peters
authors.affiliation: Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts.|Harvard Medical School, Boston, Massachusetts.
authors.forename: Ellen
authors.initials: E
authors.lastname: Hanson
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
authors.forename: Robin P
authors.initials: RP
authors.lastname: Goin-Kochel
authors.affiliation: Thompson Autism Center, University of Missouri, Columbia, Missouri.
authors.forename: Stephen
authors.initials: S
authors.lastname: Kanne
authors.affiliation: Simons Foundation, New York, New York.
authors.forename: LeeAnne Green
authors.initials: LG
authors.lastname: Snyder
authors.affiliation: Department of Pediatrics and Medicine, Columbia University, New York, New York.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D010641:Phenotype; D011379:Prognosis
keywords: 16p11.2 deletion; 16p11.2 duplication; autism spectrum disorder; copy number variation