Bernier Raphael, Hudac Caitlin M, Chen Qixuan, Zeng Chubing, Wallace Arianne Stevens, Gerdts Jennifer, Earl Rachel, Peterson Jessica, Wolken Anne, Peters Alana, Hanson Ellen, Goin-Kochel Robin P, Kanne Stephen, Snyder LeeAnne Green, Chung Wendy K
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington.
Department of Biostatistics, Columbia University, New York, New York.
Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):367-380. doi: 10.1002/ajmg.b.32525. Epub 2017 Mar 27.
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.
16p11.2区域的拷贝数变异与多种表型相关，但对于其早期发育轨迹及表型的出现却知之甚少。这项纵向研究跟踪了56名年龄在6个月至8岁之间、存在16p11.2 BP4 - BP5缺失或重复的儿童，对其进行了诊断特征分析以及认知、适应性和行为领域的维度评估。线性混合模型揭示了不同的发育轨迹，缺失型表现为智商（VIQ）提高，但运动和社交能力下降，而重复型则表现为VIQ提高且其他领域发育稳定。非参数分析表明，最终被诊断为智力残疾和发育协调障碍的缺失携带者具有独特的轨迹和早期认知能力，而被诊断为自闭症谱系障碍（ASD）和智力残疾的重复携带者具有独特的轨迹以及早期社交沟通和认知能力。研究结果为患者的发育轨迹提供了预测，深入了解了16p11.2区域个体在早期的平均功能状况，并强调了持续监测社交和运动功能以及行为症状以改善治疗计划的必要性。© 2017威利期刊公司。
