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患有巴德特-比德尔综合征的儿童的早期发育和适应性功能
Ekaterina Keifer1,2, Richard L Berg1, Jesse G Richardson1
1Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
American journal of medical genetics. Part A
|September 26, 2023
概括
患有巴德特-比德尔综合征 (BBS) 的儿童经历了显著的发育迟缓,特别是在自我照顾和表达性语言方面. 特定的BBS基因型和年龄会影响这些适应性技能轨迹.
科学领域:
- 遗传学 遗传学 是一个
- 发育儿科 发育儿科
- 罕见疾病 罕见疾病
背景情况:
- 巴德特-比德尔综合征 (BBS) 是一种罕见的遗传疾病,影响多个器官系统.
- 对于患有BBS的儿童来说,早期发育评估至关重要,以确定支持需求.
- 临床注册调查巴德特-比德尔综合征 (CRIBBS) 提供了有价值的纵向数据.
研究的目的:
- 评估BBS儿童的发展里程碑的实现情况.
- 通过使用ABAS-II.II.评估BBS的幼儿早期适应能力.
- 探索基因型特异性差异和年龄对BBS发育的影响.
主要方法:
- 来自CRIBBS注册表的发展里程碑的回顾性数据分析.
- 护理人员对适应性技能进行适应性行为评估系统 (ABAS-II 0-5) 的管理.
- 统计分析比较里程碑成就,适应能力,BBS基因型和年龄.
主要成果:
- 观察到适应能力的广泛延迟,自我护理尤其受到影响.
- 表达性语言是BBS儿童中最常见的发展里程碑.
- 与BBS10.0的个人相比,BBS1基因型的个人表现出更好的适应性和发育得分.
- 适应性技能轨迹与规范性路径分开,因为BBS儿童年龄.
结论:
- 患有BBS的儿童表现出显著的发育和适应能力缺陷.
- 早期识别和干预对于管理BBS的发展挑战至关重要.
- 了解基因型-表型相关性,比如BBS1与BBS10,可以为个性化护理策略提供信息.
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