TACA-19 自闭症——不仅仅是遗传

StarCare

TACA-19 自闭症——不仅仅是遗传
Autism – It's Not Just Genetics

原文网址：https://tacanow.org/family-resou ... -not-just-genetics/

概述

当孩子被诊断出自闭症时，父母经常被告知这是一种遗传性疾病，没有治疗方法。然而，研究表明自闭症是由遗传和环境因素共同引起的。事实上，越来越多的研究支持自闭症的环境因素比遗传因素更重要的观点。了解这一点可以给父母带来希望，因为环境因素是可以改变的。





Autism - More Than Genetics

自闭症一一不仅仅是和遗传

All contents of this resource were created for informational purposes only and are not intended to be a
substitute for professional advice, diagnosis, or treatment. Always seek the advice of your physician,
therapist, or other qualified health providers with any questions or concerns you may have.

本资源的所有内容仅出于信息目的而创建，并不旨在替代专业建议、诊断或治疗。如有任何疑问或顾虑，请务必容询
您的医生、治疗师或其他合 格的医疗保 健提供者。

ooo

Genetics is a complex science that is constantly evolving. Researchers continue to study the relationship
between genetics and autism spectrum disorders. However, what does this mean for families and
individuals with autism? When a childs autism is genetic, what does that mean?

遗传学是一门复杂的科学，它在不断发展。研究人员继续研究遗传学与自闭症谱系障碍之间的关系。然而，这对
自闭症家庭和个人意味着什么”当一个孩子的自闭症是遗传的，这意味着什么?

This article will cover:

本文将涵盖:

。Autism and Genetics 自闭症和遗传学
。 Different types of genetic testing

不同类型的基因检测
。 What it means if your child has a genetic abnormality

如果您的孩子有遗                 ，这意味着什么

Is Autism Genetic? 自闭症是遗传的吗?
The studies are still being done, but the answer is likely yes and no.
研究仍在进行中，但答案很可能是肯定的和否定的。

Based on years of research, it is widely accepted that most kids diagnosed with autism have a genetic

根据多年的研究，人们普遍认为，大多数被诊 — 自河症的儿童具有由环境因素 |发的遗传易感性。因此，我
们将自闭症称为表观遗传疾病。

Epigenetic means that the environment influences the way the bodys genes work
without changing the DNA.

表观遗传学意味着环境影响身体基因的工作方式，而不会改变 DNA,

Less than 1% of non-syndromic cases of autism stem from mutations in any single gene.

53) 1% 的非综合征性自闭症病例源于任何单个基因的突变。

In 2016, SPARK launched an initiative including 69,000 participants to locate genes responsible for
autism, and in all their research, they have only linked genes to autism in about 10% of cases.

2016 4, SPARK 发起了一项包括 69,000 名参与者的倡议，以找到导致自闭症的基因，并且在他们所有的研究
中，他们只在约 10% 的病例中将基因与自闭症联系起来。

In this 2022 study, over 22,000 genomes were analyzed. The result showed that 14% of children with
autism had one of 134 ASD-associated DNA genes. That means that 86% of children diagnosed with
autism did not have a change in their DNA that caused their autism.

在这项 2022 年研究中，分析了超过 22,000 个基因组。结果表明，14% 的自闭症儿童拥有 134 个 ASD 相关
DNA 基因之一。这意味着 86% 被诊断患有自闭症的儿童的 DNA 中没有导致自闭症的变化。

The likelihood that toxins in the environment are changing the way genes express sheds some light on
what may be happening in our children. Interestingly, the mitochondria (the powerhouse of the cell) are
very vulnerable to environmental factors. Then, we combine that with the fact that studies show

the mitochondria are functioning abnormally in autism. This information should give us pause. But it also
tells us that autism is treatable.

环境中的毒素改变基因表达方式的可能性为我们孩子身上可能发生的事情提供了一些启示。有趣的是，疆粒体
(细胞的动力源) 非常容易受到环境因素的影响。然后，我们将此与研究表明线粒体在自闭症中功能异常的事实
结合起来。这些信息           下。但它也告诉我们自闭症是可以治疗的。

应该让我们暂停一

*

Child receiving labwork #2=H5¢2hE9V LE

Should My Child get Genetic Testing?
我的孩子应该接受基因检测吗?

Yes. Genetic testing is recommended for all kids diagnosed with autism. In addition, the genetics field is a
rapidly changing science. Therefore, if current testing does not reveal any abnormalities, it is advised to
return for testing every five years.

是。建议对所有被诊断患有自闭症的儿童进行基因检测。 ni
目前的检测没有发现任何异常，建议每五年进行一次检沈

遗传学领域是一门快速变化的科学。因此，如果

If testing reveals an abnormality, it is not guaranteed that your child will develop gene-related symptoms.

如果检测显示异常，并不保证您的孩子会发展出与基因相关的症状。
人和群比例高于没有该基因和症状的人群。

这仅仅意味着具有该基因异常和特定症状的

Types of Genetic Testing 基因检测类型

When you see a geneticist, they will test for gene abnormalities. Testing for single nucleotides

polymorphisms (or “snips”) is different and usually not done with a geneticist. We will discuss both below.
However, first we will cover how genes and polymorphisms are passed from parent to child.

当您去看遗传学家时，他们会对基因异常进行检测。对单核苷酸多坊性 (或"snips“) 的检测是不同的，      不会
由遗传学家进行。我们将在下面讨论这两者。但是，首先我们将介绍基因和多坊 SOARES,

Genes and SNPs (Single nucleotide polymorphisms) are inherited from a child's biological parents.

基因和 SNP (RSS) 是从孩子的生物学父母那里遗传的。

。 Everyone gets one allele from each parent.

每个人从每个父母那里获得一个等位基因。

These alleles can be either (+) or (-).

这些等位基因可以是 (+) 或 (-)。

o If the alleles are both (-), then you are negative for the gene or polymorphism.

如果等位基因都是 (-)，那么您对该基因或多态性呈阴性。

o However, if you have one (+) allele and one (-) allele, then you are heterozygous for that gene or
polymorphism.

但是，如果您有一个 (+) 等位基因和一个 (-) 等位基因，那么您对该基因或多态性是杂合的。

o Finally, if both alleles are (+), then you are homozygous for that gene or polymorphism.
最后，如果两个等位基因都是 (+)，那么您对该基因或多态性是纯合的

o For example, a child that is MTHFR c667t +/- is heterozygous for that SNP.
例如，一个 MTHFR c667t +/- 的孩子对该 SNP 是杂合的。

Genetic Testing to Check for Mutations/Deletions/Abnormalities
基因检测以检查突变/缺失/异常

Genetic testing may be beneficial because it takes a more in-depth look at the genetic abnormalities and
may give insight into how to treat your child's medical and behavioral issues.

基因检测可能是有益的，因为它对基因异常进行了更深入的了解，并可能洞悉如何治疗您孩子的医疗和行为问
题。

A geneticist takes a full family history and runs testing to look for mutations or variants in your child's
DNA. Typically, the geneticist will run a microarray and karyotype to look for common genetic

abnormalities found in autism. These include but are not limited to:

遗传学家会获取完整的家族病史并进行检测，以寻找您孩子 DNA 中的突变或变异。通常，遗传学家会进
和核型分析，以寻找自闭症中常见的基因异常。这些包括但不限于:

行微阵列

。 Fragile X 脆性 X

。Rett Syndrome 雷特综合征
。Tuberous Sclerosis 结节性硬化症
e Phelan-McDermid syndrome

Phelan-McDermid 综合征

Every case is different. However, even if the microarray and karyotype come back negative, genetics may

insurance authorization should be obtained before running this testing. However, there may be other
options if your insurance will not pay. Probably Genetic is a nonprofit that pays for WES testing if your

child meets certain criteria.

每个病例都不同。然而，即使微阵列和核型分析结果为阴性，遗传学可能仍然涉及其中。您的医生可能会要求进
tempat (WES) 或全基因组测序 (WGS)，这些都是可以4 gelesen DNA 的较新技术。由于费用昂贵，在

行此项检 测之前局获得保  险授权。但是  re 给不予支付，    还有其他选择。Probably Genetic 是一
家闫芝组织 A, mee PET AMEE   会支付 WES amuse.

Genetic SNP Testing 基因 SNP 检测

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in people. They
are much more prevalent in the general population than gene mutations, deletions, or abnormalities. In

1000 Genomes Project, approximately 25% of the global population are carriers of MTHFR c677t and
MTHFR a1298c.

单核昔酸多态性 (SNP) 是人类中最常见的遗传变异类型。它们在普通人群中比基因突变、缺失或异常更为普遍。
事实上，为了符合 SNP 的资格，变异必须发生在至少 1% 或更多的人群中。非常著名的"MTHFR“就是一个单核苷
酸多态性 (SNP) 的示例。根据 1000 个基因组计划，大约 25% 的全球人口是 MTHFR c677t 和 MTHFR a1298c
的携带者。

Many parents ask about testing for single nucleotide polymorphisms (SNPs) through Ancestry, 23andme,
or another website that extracts raw data information. That data is uploaded into an app or website such
as Livewello, Stategene, Promethease, or another website. It reads the raw data to determine the child’s

genotype.

许多父母询问通过 Ancestry, 23andme 或另一个提取原始数据信息的网站来测试单核苷酸多态性 (SNP)。该数
据被上传到应用程序或网站，例如 Livewello、Stategene、Promethease 或其他网站。它读取原始数据以确定
孩子的基因型。

In a June 2022 meta-analysis, twelve SNPs were found to be significant in autism

including CNTNAP2, MTHFR, OXTR, SLC25A12, and VDR. However, it is important to realize that none of
these SNPs can diagnose autism or any other disorder. Rather, they can help pinpoint susceptibility to a
wide variety of symptoms.

4 2022 年 6 月的一项苦楚分析中，发现十二个 SNP 与自闭症显着相关，包括 CNTNAP2, MTHFR, OXTR,
SLC25A12 和 VDR。然而，重要的是要认识到，这些 SNP 都不足以诊断自闭症或任何其他疾病。相反，它们可
以帮助查明对各种症状的易感性。

Likewise, it is noteworthy that treating autism medically should be based on symptoms, lab work, and
clinical observation. Autism should not be treated based solely on SNPs. There are 4-5 million SNPs in
the human genome, and they all work synergistically. However, if your child is homozygous for a SNP, the
enzyme is likely not working at maximum capacity. Therefore, it is wise to run lab work to see if these
specific processes need support.

同样值得注意的是，对自闭症的医学治疗应基于症状、实验室检查和临床观察。不应仅根据 SNP 对自闭症进行治

疗。人类基因组中有 4-500 万个 SNP，它们都协同工作。但是， 如果您的孩子是 SNP 的纯合子，那么该酶可能
无法以最大能力发挥作用。因此，明智的做法是进行实验室检查

，以了解这些特定过程是否需要支持。

Is Genetic Autism Treatable?

基因自闭症可治疗吗?

If your child has a genetic disorder that is causing their autistic symptoms, their autism is very likely still
treatable! This is because genetic disorders are associated with metabolic abnormalities. This means that
there are abnormal chemical reactions in the body. If you can treat the metabolic problem, your child
can improve. In spite of the fact that you cannot change a genetic variation, you may be able to
medically support the biological issue. After you meet with the geneticist, please seek out a functional
medicine doctor who can help you treat the underlying metabolic medical issues.

如果您的孩子患有导致其自闭症症状的遗传疾病，那么他们的自闭症很可能仍然可以治疗! 这是因为遗传疾病与
代谢异常有关。这意味着体内存在异常的化学反应。如果您能够治 疗代谢问题， 您的孩子就会好转。 尽管您无法
改变遗传变异，但您可能能够在医学上文持生物学问题。在您会见遗传学家后，请寻求一位功能医学医生，他们
可以帮助您治疗潜在的代谢医学问题

Mitochondrial Dysfunction

线粒体功能障碍

A significant number of studies show that most kids with autism have mitochondrial dysfunction.
Treatment of this issue with a mitochondrial cocktail can bring significant progress. Numerous genetic
disorders involve treatable mitochondrial disorders such as:

大量研究表明，大多数自闭症儿童患有线粒体功能障碍。用线粒体鸡尾酒治
多遗传性疾病涉及可治疗的线粒体疾病，例如:

了这个问题可以带来显著的进展。许

。Rett Syndrome 雷特综合征

。Down Syndrome 唐氏综合征

。PTEN mutations PTEN 突变
。15d11q13 duplication 15q11q13 复制

。Angelman Syndrome Angelman 综合征

。Septo Optic Dysplasia 视神经发育不全

Redox Abnormalities 氧化还原异常

Many genetic disorders involve abnormal oxidation-reduction (redox). In other words, there is not enough
glutathione (or glutathione recycling) to prevent oxidation and facilitate proper detoxification. These are
also involved in autism and are very treatable with supplementation and dietary changes. B12, folate, B6,
and glutathione are all used to treat redox abnormalities. Examples of genetic disorders that have redox
abnormalities are:

许多遗传性疾病都涉及异常的氧化还原 (氧化还原) . AIA, RARBAIADHAK (RADAR) 来防
上氧化并促进适当的排. 这些也与自闭症有关，  en 进行非常有效的治疗。B12、叶
酸、B6 和合胱甘肽都用于治疗氧化还原异常。具有和氧化还原异常的遗传性疾病的示例包括 :

。Rett Syndrome 雷特综合征
。Down Syndrome 唐氏综合征
。Phenylketonuria (PKU) 共丙酮尿症 (PKU)

Folate Abnormalities 叶酸异常

Lastly, there are genetic disorders that involve folate abnormalities that are also very common in
autism. Thankfully, this is treatable with prescription strength nutritional folinic acid supplementation.
Examples of genetic disorders that involve folate abnormalities are:

还有一些遗传性疾病涉及叶酸异常，在自闭症中也很常见。值得庆幸的是，这可以通过处方强度的营养叶
常的遗传性疾病的示例包括:

be
BO,

酸补充剂进行治疗。涉及叶酸异

。Rett Syndrome 雷特综合征
。Down Syndrome 唐氏综合和

Variants of Unknown Significance
意义不明的变异

Sometimes testing detects genetic variants. However, it is unknown what they could mean, if anything, to
the individual. These are called variants of unknown significance or VUS. These are not cause for
concern because it is unknown how, or if, they will affect your child.

有时检测会发现基因变异。然而，尚不清楚它们对个体来说意味着什么 〈如果有的话) 。这些被称为意义不明的
变异或 VUS。这些并不值得关注，因为尚不清楚它们将如何影响您的孩子，或者是否会影响您的孩子。

Conclusion 结论

Opting for genetic testing for your child is a wise choice, but finding a genetic variant is uncommon.

However, if your child does have a genetic abnormality, please don’t lose hope! Many medical treatment
options can help your child gain improved health, cognition, and behavior.

SERVE eA 测是一个明智的选择，但发现基因变异并不常见。然而，如果您的孩子确实有基因异常，
请不要失去希望! 许多医疗治疗方案可以帮助您的孩子获得更好的健康、认知和行为。

Glossary of Terms

Alleles - Two versions of the same gene. You receive one allele from each parent.

Gene - A portion of DNA that contains the genetic code for traits.

Chromosome - This is where genes are located. Humans have 23 pairs of chromosomes.

De novo mutation - Any mutation/alteration in the genome that was not transmitted by the child’s parents.
Inherited - Traits or variants that are encoded in DNA and passed from parent child.

Variant - A permanent change in the DNA sequence that makes up a gene.

Deletion - A type of mutation that involves the loss of one or more nucleotides from a segment of DNA.
Frameshift - A variant that occurs when there is an addition or loss of nucleotides that shifts the ch
changes the code for all downstream amino acids.
SNP - Single nucleotide polymorphisms, (pronounced “snips"), are the most common Wi led of
in 1% or more of the population.

Microarray - A laboratory tool used to detect the expression of thousands of gen
Karyotype - An individual's complete set of chromosomes.
Genotype - The genetic makeup of an organism that contri
Dominant - If the alleles of a gene are different, the
Recessive - |f the alleles of a gene are diffe
WES - Whole Exome vont  WES

ofa cell at a sin







遗传与环境

遗传因素的局限性：
- 同卵双胞胎的遗传相同，但自闭症一致率并非100%
- 自闭症诊断率的急剧上升不能仅用遗传来解释
- 许多自闭症儿童没有已知的遗传突变

环境因素的证据：
- 自闭症率在过去几十年急剧上升
- 不同地区自闭症率差异显著
- 研究显示环境因素可能占自闭症风险的55-60%

自闭症的环境因素

产前因素：
- 母体感染 - 孕期感染增加自闭症风险
- 母体自身免疫疾病 - 母亲有自身免疫疾病增加风险
- 孕期用药 - 某些药物（如丙戊酸）增加风险
- 孕期压力 - 高压力水平影响胎儿发育
- 孕期营养 - 叶酸缺乏、维生素D缺乏等
- 孕期毒素暴露 - 农药、重金属、空气污染

围产期因素：
- 早产 - 早产儿自闭症风险更高
- 低出生体重
- 分娩并发症
- 缺氧

产后因素：
- 环境毒素暴露
- 重金属
- 农药
- 空气污染
- 霉菌毒素

环境毒素与自闭症

重金属：
- 铅 - 神经毒性，影响发育
- 汞 - 神经毒性，存在于某些疫苗和鱼类中
- 铝 - 神经毒性
- 砷 - 存在于某些食物和水中

农药：
- 有机磷农药
- 氨基甲酸酯类农药
- 除草剂（如草甘膦）

工业化学品：
- 多氯联苯（PCBs）
- 邻苯二甲酸酯
- 双酚A（BPA）
- 挥发性有机化合物（VOCs）

免疫系统与自闭症

母体抗体：
- 一些母亲产生针对胎儿大脑的抗体
- 这些抗体可以穿过胎盘并影响大脑发育

免疫功能失调：
- 自闭症儿童常有免疫功能异常
- 自身免疫疾病在自闭症家庭中更常见
- 慢性炎症可能影响大脑功能

肠道健康与自闭症

肠道-大脑轴：
- 肠道微生物影响大脑功能
- 自闭症儿童常有肠道菌群失衡
- 肠道炎症可以影响行为

肠道问题：
- 便秘
- 腹泻
- 肠道通透性增加（"肠漏"）
- 食物敏感性

线粒体功能障碍

线粒体与自闭症：
- 许多自闭症儿童有线粒体功能障碍
- 环境毒素可以损害线粒体
- 线粒体功能障碍影响能量产生和神经功能

影响因素：
- 氧化应激
- 营养缺乏
- 环境毒素

甲基化问题

甲基化的作用：
- DNA甲基化影响基因表达
- 甲基化支持解毒和神经递质产生
- 环境因素可以影响甲基化

甲基化障碍：
- MTHFR基因变异常见于自闭症
- 影响叶酸代谢
- 影响谷胱甘肽产生

对父母的希望

理解自闭症有重要的环境因素意味着：

可以预防：
- 孕前和孕期健康管理
- 减少毒素暴露
- 良好的营养

可以治疗：
- 解决潜在医学问题
- 减少毒素负担
- 支持解毒途径
- 改善肠道健康
- 支持线粒体功能
- 支持免疫系统

功能性方法：
- 寻找和解决根本原因
- 个性化治疗
- 支持身体的自然愈合能力

结论

自闭症不仅仅是遗传的。环境因素起着重要作用，这意味着我们可以做一些事情来预防和治疗。通过减少毒素暴露、支持身体的解毒系统、改善肠道健康和解决潜在的医学问题，许多自闭症儿童可以改善。这给父母带来了希望和行动的方向。与功能医学医生合作，制定个性化的治疗方案。