具有挑战性的案例:2岁的孩子有"自闭症行为"
Brian A Harris1, Katherine A Trier2, DePorres Cormier3
1Pediatric Behavioral Health and Development, Orlando Health Arnold Palmer Hospital for Children, Orlando, FL.
在一个发育迟缓的孩子身上发现了一种罕见的基因突变,最初被误诊为全球发育迟缓. 整体外因子测序证实了一种罕见的自体主导性疾病,促使重新评估护理和支持策略.
科学领域:
- 儿科发育神经学 儿科发育神经学
- 临床遗传学 临床遗传学
- 罕见的遗传疾病 罕见的遗传疾病
背景情况:
- 一个2岁的男孩出现了全球发育迟缓和自闭症行为,最初不符合自闭症谱系障碍的标准.
- 早期干预和治疗已经开始,但在提供者中,对自闭症的担忧仍然存在.
- 最初的基因测试,包括脆弱X分析和染色体微阵列,没有得出结论.
研究的目的:
- 通过先进的遗传检测,重新评估持续发育迟缓和行为问题儿童.
- 为了确定患者复杂的神经发育表现的潜在遗传原因.
- 以指导未来的护理和支持策略,以确定的遗传诊断为基础.
主要方法:
- 全球发育迟缓和自闭症行为的临床评估.
- 最初的遗传检测:脆弱X分析和染色体微阵列.
- 在技术进步后,通过全外体测序 (WES) 进行后续基因测试.
主要成果:
- 整体外因子测序发现了一种罕见的,自体主导突变.
- 这种突变与多系统性疾病有关,包括显著的神经发育损害,言语受限,行为问题和面异常.
- 诊断从全球发育迟缓转向特定的罕见遗传疾病.
结论:
- 准确的基因诊断对于理解复杂的神经发育障碍至关重要.
- 整体外体序列测试可以识别早期测试中遗漏的罕见遗传突变.
- 识别特定的基因突变指导了针对罕见疾病的定制治疗干预和家庭支持.
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