这 儿童痴呆症 是儿科神经病学中的一个经典术语，它试图通过“ PIND（进行性智力和神经功能恶化），它试图涵盖所有儿童神经退行性综合症。这个概念包括：
- 的存在 发育倒退 （智力能力和已经建立的学习能力的丧失），。
- 进步 （它在时间上不是自我限制的，而是一直持续到孩子失去所有技能，甚至是最基本的技能，例如行走或括约肌失禁）。
- 广义的 （不影响单个认知或发育领域）。
- 外观 神经系统症状和体征 相关，通过临床检查明显（动眼神经障碍、锥体运动、共济失调、运动障碍、癫痫）。
有测试 针对性筛查 排除其中一些疾病，目的是获得早期诊断并预测它们所呈现的灾难性演变。
PIND 诊断标准
病例定义 – 进行性智力和神经功能恶化（英国 PIND 登记处）。
| 任何满足以下三个标准的儿童（症状出现时年龄在 16 岁以下）： 病情进行性恶化超过 3 个月；丧失已获得的智力或发展能力；异常神经体征的发生和发展 |
| 排除 |
| 静态智力丧失（例如脑炎、头部受伤或差点溺水后） |
| 包括 |
| 符合病例定义的儿童，即使已做出特定的神经学诊断 |
| 代谢紊乱导致神经功能恶化 |
| 癫痫发作（如果伴有进行性恶化） |
| 被诊断患有神经退行性疾病但尚未出现症状的儿童 |
| 报告仅限于上个月看到的病例，但包括那些病情较早开始的病例（即，如果在该月看到的情况，则包括随访中儿童的“旧病例”） |
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1.
Verity C、Baker E、Maunder P、Pal S、Winstone AM。儿童进行性智力和神经功能恶化的鉴别诊断。开发医学儿童神经学[互联网]。 2021 年 3 月[引用于 2022 年 10 月 15 日]；63(3):287–94。可从： https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891454/
伪回归。
有必要区分真回归和伪回归。
- 静态性脑病的假性回归：静态脑病的自然演变，可能会出现与青春期后发育阶段相关的恶化，这是由于成年后体内发生的生物变化（痉挛恶化）的结果。
- 自闭症回归。这是 ASD 儿童的特征，出现在 18 至 24 个月之间，主要影响语言，但不出现后续进展。
- 心因性伪回归。这是幼儿中常见的已经获得的发育里程碑（例如括约肌控制）的丧失，这是由于环境变化（兄弟姐妹的出生等）造成的，是暂时的并且具有可识别的情绪触发因素。
导致 PIND 的疾病
溶酶体疾病。
影响脂质转运和代谢的溶酶体疾病。
• 复合性saposin（prosaposin）缺乏症
• 法伯病
• 戈谢病（2 型）
• 戈谢病（3 型）
• 球状细胞脑白质营养不良（克拉伯病）
• GM1 神经节苷脂沉积症（1 型和 2 型）
• GM2 神经节苷脂沉积症 – AB 变体
• GM2 神经节苷脂沉积症（泰萨克斯病）
• GM2 神经节苷脂沉积症（桑德霍夫病）
• 异染性脑白质营养不良
• 多种硫酸酯酶缺乏症
• A 型尼曼-匹克病
• C 型尼曼-匹克病
• Saposin A 缺乏症
• 皂苷B 缺乏症
• 皂苷C 缺乏症
糖蛋白沉积症。
• α-甘露糖苷贮积症
• α-N-乙酰氨基半乳糖苷酶缺乏症（辛德勒病（I 型））
• 天冬氨葡萄糖胺尿 (AGU)
• β-甘露糖苷沉积症
• 岩藻糖苷沉积症（I 型和 II 型）
• 半乳糖唾液酸沉积症（组织蛋白酶 A 突变）
• I 型粘脂沉积症（II 型唾液酸沉积症）
• II 型粘脂沉积症（i 细胞疾病）
• IV 型粘脂沉积症
• MPS I（Hurler 综合征）
• MPS II（亨特综合症）
• MPS III（桑菲利波综合征）
• MPS VII（斯莱综合征）
其他溶酶体疾病。
• 神经元蜡质脂褐质沉积症 （NCL 或巴顿病）； 14 种亚型（成人发病的 CLN 4、11、13 除外）
• 唾液酸贮积病
脂质代谢。
• 无β脂蛋白血症
• 脑腱黄瘤病
氨基酸病和有机酸疾病。
• 卡纳万病
• 谷胱甘肽合成酶缺乏症
• 甘氨酸脑病/非酮症高甘氨酸血症
• 全羧化酶合成酶缺乏症
• 亚硫酸盐氧化酶缺乏
鉴别诊断。
根据神经症状。
脊髓灰质炎脑病。
白质脑病。
脑病。
脊髓小脑病。
根据发病年龄。
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1.
Mishra S. 儿童神经退行性疾病的治疗方法：简短回顾。 PAPN [互联网]。 2018 年 7 月 17 日[引用于 2021 年 7 月 21 日]；1(5)。可从： https://www.lupinepublishers.com/pediatrics-neonatal-journal/fulltext/openaccess-approach-to-neurodegenerative-disease-in-children-a-short-review.ID.000121.php
意识信息。
儿童痴呆症 是一个致力于传播和提高对这些疾病的认识的网站，旨在提高民众和卫生当局对投资研究以促进这些毁灭性疾病的治疗进展的重要性的认识。