多学科头管功能障碍评估有助于检测22q11.2删除的非经典病例
Krystof Stanek1, Alice T Wang2, Anne F Hseu1,3
1Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA.
概括
多学科的乳喉功能障碍 (VPD) 评估是诊断儿童22q11.2删除综合征 (22q) 的关键. 非裂纹VPI强烈表明22q,有助于在未被诊断的情况下早期检测.
科学领域:
- 遗传学 遗传学 是一个
- 儿科医学 儿科医学
- 语音语言病理学 语言病理学
背景情况:
- 22q11.2删除综合征 (22q) 是一种复杂的遗传疾病,具有多样化的临床表现.
- 脊髓功能障碍 (VPD) 是22q儿童的常见症状,但其诊断作用尚未完全阐明.
- 早期诊断22q对于及时干预和改善患者结果至关重要.
研究的目的:
- 调查多学科VPD评估在儿童群体中诊断22q的有用性.
- 在VPD评估中确定在未被诊断的儿童中表明22q的临床指标.
- 突出22q诊断的多学科方法的重要性.
主要方法:
- 75名基因确诊22q儿童的回顾性队列研究,在第三级儿科医院的VPD诊所进行评估.
- 通过全面的医疗记录审查,ICD-10代码和机构关键字搜索收集的数据.
- 分析重点是患者特征,诊断途径和临床表现,导致22q遗传测试.
主要成果:
- 在75名儿童中,有9名 (12%) 在经过VPD评估后被新诊断为22q.
- 在新诊断的22q病例中,非裂性VPI存在于100%的新诊断的22q病例中,而在以前诊断的病例中,这一比例为52% (P=.008),作为一个重要指标.
- 先天性心脏病,面异常和发育迟缓是与22q诊断相关的额外发现.
结论:
- 多学科的VPD评估有效地识别了以前未被诊断的22q.病例.
- 非裂口VPI的存在应促使儿童在未解释的VPI中对22q产生高的怀疑指数.
- 综合的临床方法涉及专家如整形外科医生,耳鼻喉科医生和语音语言病理学家对于早期22q检测和管理至关重要.
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