患有安吉尔曼综合征的儿童的多,成长和青春期
Karen G C B Bindels-de Heus1,2, Doesjka A Hagenaar1,2,3, Ilonka Dekker1
1Department of Pediatrics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
Journal of clinical medicine
|September 28, 2023
概括
患有安吉尔曼综合征 (AS) 的儿童经历了中度的多和改变的生长模式,包括更矮的身材和更高的BMI,这些都随着年龄的增长而恶化. 建议对饮食和运动进行早期干预,以控制肥胖风险.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 安吉尔曼综合征 (AS) 是一种罕见的遗传疾病,影响发育,和行为.
- 在AS患者的长度生长数据是有限的,尽管观察到过,更短的身材和更高的BMI.
- 母亲UBE3A基因损失对生长的确切影响尚不清楚.
研究的目的:
- 在患有安吉尔曼综合征的儿童队列中分析生长参数和吞过量.
- 调查基因型,超和生长指标之间的关联.
- 在AS患者中识别与年龄相关的身高和BMI变化.
主要方法:
- 对145名患有AS的儿童 (2010-2021) 的数据进行前性分析.
- 使用戴肯斯高质问卷,测量身高和BMI标准偏差 (SDS) 分数.
- 统计分析,以评估基因型,超和生长相关性,包括与年龄相关的趋势.
主要成果:
- 患有AS的儿童表现出高过得分 (平均25分) 和更高的BMI-SDS (平均0.6分),其中43%的BMI-SDS>1.
- 身高SDS较低 (平均值-1.2) 并且随着年龄的增长而减少 (p < 0.001);BMI-SDS随着年龄的增长而增加 (p < 0.001).
- 较高的BMI-SDS与非删除基因型和独立行走相关;超食症得分与较高的BMI-SDS相关.
结论:
- 患有AS的儿童表现出中度过,身高下降和BMI增加,这些偏差随着年龄的增长而升级.
- 更高的BMI与特定的基因型和运动发育里程碑相关.
- 建议包括早期关注饮食,运动和过管理,以预防肥胖.
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