Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
Simons Foundation, New York, New York, USA.
Am J Med Genet A. 2022 Jul;188(7):1954-1963. doi: 10.1002/ajmg.a.62721. Epub 2022 Mar 14.
DYRK1A haploinsufficiency syndrome is a well-established neurodevelopmental disorder, but detailed information on the range of cognitive and behavioral issues associated with the condition is limited. We studied 24 participants with likely pathogenic or pathogenic variants in DYRK1A through the Simons Searchlight study and systematically assessed their medical history and development using standardized instruments: Vineland Adaptive Behavior Scale II (VABS-II) and Child Behavior Checklists/1.5-5 and 6-18 (CBCL/1.5-5, CBCL/6-18). All of the individuals in the cohort had neurological manifestations including intellectual disability or developmental delay, microcephaly, autism spectrum disorder, and/or seizures. The severity of the neurodevelopmental disorder was variable with a few children scoring in the moderately low range on the adaptive behavior composite score on the VABS-II. This study confirms the association of DYRK1A haploinsufficiency with neurodevelopmental disabilities, microcephaly, autism spectrum disorder, and epilepsy and quantifies the range of adaptive behaviors.
DYRK1A 基因单亲二倍体不足综合征是一种已确立的神经发育障碍，但与该病症相关的认知和行为问题的详细信息有限。我们通过西蒙斯搜索灯研究对 24 名 DYRK1A 中可能存在致病性或致病性变异的参与者进行了研究，并使用标准化工具系统地评估了他们的病史和发育情况：Vineland 适应行为量表第二版（VABS-II）和儿童行为检查表/1.5-5 和 6-18（CBCL/1.5-5、CBCL/6-18）。该队列中的所有个体均有神经学表现，包括智力障碍或发育迟缓、小头畸形、自闭症谱系障碍和/或癫痫发作。神经发育障碍的严重程度各不相同，少数儿童在 VABS-II 的适应行为综合评分中得分处于中等偏低水平。这项研究证实了 DYRK1A 基因单亲二倍体不足与神经发育障碍、小头畸形、自闭症谱系障碍和癫痫的关联，并量化了适应行为的范围。
