一个患有KIF11相关疾病的男孩,以及ADHD和ASD:儿科和儿童精神病学之间的合作
Annelien Marcelis1, Evelyne Van Reet2
1AZ Sint-Maria Halle, Halle, Belgium.
Case reports in psychiatry
|October 3, 2024
概括
基因素家族成员11 (KIF11) 障碍可以与自闭症谱系障碍 (ASD) 和注意力缺陷/多动症障碍 (ADHD) 一起发生,即使没有智力障碍. 早期检测和干预是改善受影响儿童治疗结果的关键.
科学领域:
- 神经遗传学 神经遗传学
- 发育儿科 发育儿科
- 精神病学是一个精神病学.
背景情况:
- 基因素家族成员11 (KIF11) 相关疾病,一种自体主导性疾病,通常表现为小头症,胆管形,淋巴和智力障碍.
- 虽然智力障碍已有证据,但KIF11突变中自闭症谱系障碍 (ASD) 和注意力缺陷/多动症障碍 (ADHD) 的同时发生仍未得到充分研究.
研究的目的:
- 在没有智力障碍的儿童中报告KIF11相关疾病的病例,同时出现ADHD和ASD.
- 调查KIF11突变儿童神经发育障碍的患病率.
- 强调早期查和干预KIF11相关疾病中神经发育问题的重要性.
主要方法:
- 一个8岁男孩患有KIF11突变,ADHD和ASD的病例报告.
- 包括认知,语言和运动评估在内的全面评估.
- 儿童神经科医生和精神科医生的多学科诊断确认.
- 对家长支持小组进行调查,以评估神经发育障碍的流行率.
主要成果:
- 患者呈现了KIF11突变,ADHD和ASD,但没有智力障碍.
- 认知和运动评估显示了精细运动延迟和注意力缺陷.
- 调查数据显示,与一般人群相比,KIF11突变的儿童中神经发育障碍的患病率更高.
结论:
- 与KIF11相关的障碍可以与ASD和ADHD等神经发育状况一起出现,需要精神病学转诊的低门.
- 早期的多学科干预,包括物理治疗和药物管理,可以产生积极的结果.
- 在KIF11突变中,对神经发育障碍的基因机制进行进一步的研究是有必要的.
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