The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
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DOI：
10.1002/ajmg.a.40535
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发表时间：
2018-10
期刊：
影响因子：
--
通讯作者：
McDonald-McGinn DM
中科院分区：
文献类型：
--
作者：
Grand K;Levitt Katz LE;Crowley TB;Moss E;Lessig M;Bamba V;Lord K;Zackai EH;Emanuel BS;Valverde K;McDonald-McGinn DM
据报道，约50%的22q11.2DS患者存在低钙血症，已知钙调节在神经元发育和突触可塑性中发挥作用。由于钙离子在神经元功能和发育中起作用，我们假设低钙血症与22q11.2DS患者的全量表智商指数（FSIQ）的不良反应相关。对费城儿童医院1073例经实验室证实的染色体22q11.2缺失受试者进行了一项回顾性病历审查，对是否存在低钙血症进行了分类。852/1073例患者进行了实验室确认钙水平的内分泌学评价。466/852例（54.7%）诊断为低钙血症。265/1073例年龄范围为0-51岁的受试者既测量了钙水平，又进行了神经心理学评价，得出FSIQ。146/265例低钙血症患者的平均FSIQ为77.09（SD=13.56），119/265例正常钙血症患者的平均FSIQ为77.27（SD=14.25）。低钙组与正常组智力残疾（FSIQ<69）、临界智商（FSIQ 70-79）和平均智商（FSIQ>80）的分布差异无统计学意义（χ2=0.2676，p=0.8748）。未发现新生儿低钙癫痫发作与ID相关。我们发现低钙和非低钙22q11.2DS患者的FSIQ无差异。由于我们的研究结果与以前在成人受试者中的报告不同，我们推测这可能反映了早期治疗低钙血症的潜在益处，并可能支持早期22q11.2缺失检测，以提供及时的诊断和低钙血症的后续治疗。
Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11.2DS. A retrospective chart review cataloguing the presence or absence of hypocalcemia in 1073 subjects with a laboratory confirmed chromosome 22q11.2 deletion evaluated at the Children’s Hospital of Philadelphia was conducted. 852/1073 patients had an endocrinology evaluation with laboratory confirmed calcium levels. 466/852 (54.7%) had a diagnosis of hypocalcemia. 265/1073 subjects ranging from 0-51 years of age had both calcium levels measured and a neuropsychological evaluation yielding a FSIQ. The mean FSIQ for 146/265 patients with hypocalcemia was 77.09 (SD=13.56) and the mean FSIQ for 119/265 patients with normocalcemia was 77.27 (SD=14.25). The distribution of patients with intellectual disability (ID) (FSIQ<69), borderline IQ (FSIQ 70-79), and average IQ (FSIQ>80) between the hypocalcemic and normocalcemic groups was not statistically significant (χ2=0.2676, p=0.8748). Neonatal hypocalcemic seizures were not found to be associated with ID. We found no difference in FSIQ between the hypocalcemic and non-hypocalcemic patients with 22q11.2DS. As our findings differ from a previous report in adult subjects, we speculate that this may reflect a potential benefit from early treatment of hypocalcemia and may support early 22q11.2 deletion detection in order to offer prompt diagnosis and subsequent treatment of hypocalcemia.
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影响因子：
3.2
作者：
Cheung EN;George SR;Costain GA;Andrade DM;Chow EW;Silversides CK;Bassett AS
通讯作者：
Bassett AS
影响因子：
64.5
作者：
Merscher, S;Funke, B;Kucherlapati, R
通讯作者：
Kucherlapati, R
影响因子：
8.8
作者：
Kapadia, Chirag R.;Kim, Yuran E.;Katz, Lorraine E. Levitt
通讯作者：
Katz, Lorraine E. Levitt
影响因子：
3.6
作者：
Evers, L. J. M.;van Amelsvoort, T. A. M. J.;Curfs, L. M. G.
通讯作者：
Curfs, L. M. G.
DOI：
10.1073/pnas.201127298
发表时间：
2001-09-25
影响因子：
11.1
作者：
Taddei, I;Morishima, M;Lindsay, EA
通讯作者：
Lindsay, EA