自闭症 实验室检查等 Autism laboratory tests, etc

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自闭症  实验室检查等 Autism laboratory tests, etc

自闭症  实验室检查等   :
自闭症的诊断主要依赖 行为学评估，而不是实验室检查。然而，某些 实验室检查 可以用于排除其他可能导致类似症状的疾病，或者辅助评估自闭症患者的生理和代谢特征。
1. 遗传学检测（用于寻找潜在的遗传原因）
• 染色体微阵列（CMA）：检测微缺失和微重复，发现约10-20%的病因。
• 基因测序（WES/WGS）：外显子组测序（WES）或全基因组测序（WGS），可识别特定基因突变，如 SHANK3、SCN2A、MECP2、FMR1 等。
• 脆性X综合征检测：推荐对有智力障碍或家族史的患者进行检测。
2. 代谢和生化检测（评估功能异常）
• 有机酸检测（尿液）：评估线粒体功能、肠道菌群代谢异常（如短链脂肪酸、酚类代谢物）。
• 氨基酸和酰基肉碱谱（血液）：筛查遗传代谢病，如苯丙酮尿症（PKU）。
• 叶酸代谢（血液）：叶酸受体抗体检测，与脑叶酸缺乏综合征相关。
• 氧化应激指标（如谷胱甘肽GSH/ GSSG比值、脂质过氧化物）：评估氧化应激水平。
3. 免疫和炎症标志物
• 细胞因子检测（IL-6、TNF-α、IL-17等）：评估慢性炎症。
• 自身抗体检测（抗脑蛋白抗体）：部分自闭症患者可能有异常自身免疫反应。
4. 肠道菌群分析（粪便）
• 宏基因组测序：分析肠道微生物组成，评估 双歧杆菌、普雷沃氏菌、梭菌等 相关菌群的失衡情况。
• 短链脂肪酸（SCFAs）检测：评估丁酸、丙酸等神经活性代谢产物水平。
5. 神经递质相关检查
• 血清或尿液神经递质代谢物（如5-HIAA、HVA）：评估 血清素、多巴胺代谢，但临床应用有限。
• GABA/谷氨酸比值：自闭症患者可能存在 谷氨酸过量、GABA功能不足，导致神经过度兴奋。
6. 神经影像学检查（仅用于特殊情况）
• 脑MRI：用于排除结构异常，如胼胝体发育不良或其他脑部异常。
• 功能性MRI（fMRI）和脑电图（EEG）：研究表明部分自闭症患者存在功能连接异常或癫痫波，但并非常规诊断手段。
总结 ：
实验室检查并不能直接诊断自闭症，但可以用于 筛查潜在病因、评估代谢和神经功能状态。在你的研究方向（自闭症的非药物干预）中，肠道菌群、神经递质、炎症状态 可能是重点关注的方向，因为这些因素都与自闭症的神经兴奋状态相关，可作为功能性食品的研究靶点。
（你有兴趣针对哪一类检测深入研究？ ）
( Software translation )   Autism laboratory tests, etc ：  The diagnosis of autism mainly relies on behavioral assessments rather than laboratory tests. However, certain laboratory tests can be used to exclude other diseases that may cause similar symptoms, or to assist in evaluating the physiological and metabolic characteristics of individuals with autism.
1. Genetic testing (used to identify potential genetic causes)
Chromosome microarray (CMA): detects microdeletions and microduplications, identifying approximately 10-20% of the causes.
• Gene sequencing (WES/WGS): Exome sequencing (WES) or whole genome sequencing (WGS) can identify specific gene mutations, such as SHANK3, SCN2A, MECP2, FMR1, etc.
Fragile X syndrome testing: It is recommended to test patients with intellectual disabilities or a family history.
2. Metabolic and biochemical testing (evaluating functional abnormalities)
Organic acid detection (urine): Evaluate mitochondrial function and intestinal microbiota metabolism abnormalities (such as short chain fatty acids and phenolic metabolites).
Amino acid and acylcarnitine profiles (blood): screening for genetic metabolic disorders such as phenylketonuria (PKU).
Folic acid metabolism (blood): detection of folate receptor antibodies, associated with cerebral folate deficiency syndrome.
Oxidative stress indicators (such as glutathione GSH/GSSG ratio, lipid peroxides): assess oxidative stress levels.
3. Immune and inflammatory markers
• Cytokine testing (IL-6, TNF - α, IL-17, etc.): Evaluate chronic inflammation.
Autoantibody testing (anti brain protein antibodies): Some individuals with autism may have abnormal autoimmune reactions.
4. Analysis of gut microbiota (feces)
• Metagenomic sequencing: Analyze the composition of gut microbiota and evaluate the imbalance of related microbial communities such as Bifidobacterium, Prevotella, Clostridium, etc.
Short chain fatty acid (SCFAs) detection: Evaluate the levels of neuroactive metabolites such as butyric acid and propionic acid.
5. Neurotransmitter related examinations
Serum or urine neurotransmitter metabolites (such as 5-HIAA, HVA): evaluate serotonin and dopamine metabolism, but clinical applications are limited.
GABA/glutamate ratio: Autistic patients may have excessive glutamate and insufficient GABA function, leading to excessive neural excitation.
6. Neuroimaging examination (only for special cases)
Brain MRI: Used to exclude structural abnormalities, such as underdeveloped corpus callosum or other brain abnormalities.
Functional MRI (fMRI) and electroencephalography (EEG): Studies have shown that some individuals with autism may have functional connectivity abnormalities or epileptic waves, but they are not routine diagnostic methods.
Summary:
Laboratory tests cannot directly diagnose autism, but can be used to screen for potential causes, assess metabolic and neurological status. In your research direction (non pharmacological interventions for autism), gut microbiota, neurotransmitters, and inflammatory status may be key areas of focus, as these factors are all related to the neural excitability of autism and can serve as research targets for functional foods.
( Which type of detection are you interested in conducting in-depth research on ? )