ABSTRACT

Children with 22q11.2 deletion syndrome (22q11.2DS) have diverse neurodevelopmental and mental health profiles involving cognitive impairments and behavioral symptomatology that evolve over the lifespan. 22q11.2DS is the second-most common cause of developmental delay in children. Frequent physical manifestations include impact to skeletal, cardiac, immunological, respiratory, renal, auditory, and gastrointestinal systems. Neuropsychological impact ranges from early developmental delay to learning disabilities to more global intellectual disability. This population is also at higher risk for psychiatric conditions including Attention Deficit Hyperactivity Disorder, Anxiety Disorder, Bipolar Disorder and early Schizophrenia. The present case series relays cross-sectional findings from a 3-year -old Black/Non-Hispanic male, a 5-year -old White/Hispanic/Latina female, and an 8-year -old White/Hispanic/Latina female, diagnosed with 22q11.2DS via whole exome sequencing. Based on the referral question, various components of intellectual, attention/executive, memory, language, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning were examined across cases. Results revealed cognitive scores that ranged from exceptionally low to below average, consistent with the variability in cognitive functioning documented in the literature. Their neurodevelopmental and mental health symptoms appear to be consistent with time points reported in the literature including Autism Spectrum Disorder in the youngest patient and elevated levels of anxiety and internalizing behaviors in the oldest patient, placing that patient at a greater risk for further psychiatric difficulties. Therefore, longitudinal documentation of linkages between clinical neuropsychological presentations and specific genetic characteristics in 22q11.2DS is warranted to identify consistent developmental differences across the lifespan.

摘要

患有 22q11.2 缺失综合征 (22q11.2DS) 的儿童具有不同的神经发育和心理健康状况，包括在整个生命周期中不断发展的认知障碍和行为症状。22q11.2DS 是儿童发育迟缓的第二大常见原因。常见的身体表现包括对骨骼、心脏、免疫、呼吸、肾脏、听觉和胃肠系统的影响。神经心理影响范围从早期发育迟缓到学习障碍，再到更全面的智力障碍。这一人群也面临更高的精神疾病风险，包括注意力缺陷多动障碍、焦虑症、双相情感障碍和早期精神分裂症。本病例系列报道了一名 3 岁黑人/非西班牙裔男性的横断面调查结果，一名 5 岁白人/西班牙裔/拉丁裔女性和一名 8 岁白人/西班牙裔/拉丁裔女性，通过全外显子组测序被诊断出患有 22q11.2DS。根据转介问题，在不同情况下检查了智力、注意力/执行力、记忆力、语言、视觉运动/精细运动、学业、适应性和情绪/行为功能的各个组成部分。结果显示，认知评分范围从极低到低于平均水平，与文献中记录的认知功能的可变性一致。他们的神经发育和心理健康症状似乎与文献中报道的时间点一致，包括最年轻患者的自闭症谱系障碍和最年长患者的焦虑和内化行为水平升高，使该患者面临更大的精神障碍风险。因此，有必要对临床神经心理学表现与 22q11.2DS 中特定遗传特征之间的联系进行纵向记录，以识别整个生命周期中一致的发育差异。