摘要

PURPOSE:Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome.
METHODS:We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability.
RESULTS:The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate-to-severe intellectual disability with other factors such as major structural brain malformations in this sample.
CONCLUSION:The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions.

译文

目的: 低钙血症是 22q11.2 缺失综合征的常见内分泌疾病。新生儿低钙血症可能影响神经发育。我们假设新生儿低钙血症与 22q11.2 缺失综合征中罕见的、更严重的智力残疾有关。
方法: 我们使用逻辑回归模型来调查智力残疾严重程度的潜在预测因素，包括新生儿低钙血症、新生儿癫痫发作和复杂的先天性心脏病，例如主动脉弓中断, 在 149 名 22q11 的成年人中。 2 缺失综合征。10 名受试者有中度至重度智力残疾。
结果: 模型高度显著 (P & lt; 0.0001)，显示新生儿癫痫发作 (P = 0.0018) 和新生儿低钙血症 (P = 0.047) 成为更严重的智力残疾的重要预测因素。无论智力水平如何，在整个样本中，新生儿癫痫发作与新生儿低钙血症显著相关 (P & lt; 0.0001)。在该样本中，没有证据表明中度至重度智力残疾与其他因素如主要结构大脑畸形有关。
结论: 结果表明，新生儿癫痫发作可能增加 22q11.2 缺失综合征中更严重智力缺陷的风险，这可能是由新生儿低钙血症介导的。新生儿低钙血症通常直到癫痫发作后才被发现，那时可能已经发生了神经元损伤。这些发现支持了新生儿低钙血症的早期识别和治疗以及 22q11.2 缺失的潜在新生儿筛查的重要性。