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自閉癥遺傳自母親還是父親？

出處：@杜佳楣講孤獨癥日期：2024-08-19 06:15:59編輯：網(wǎng)絡(luò)收集

自閉癥，一種復(fù)雜的神經(jīng)發(fā)育障礙，影響著全球約0.6%的人口。其特征為社交障礙、溝通困難和刻板行為。

長期以來，關(guān)于自閉癥的遺傳因素，大眾普遍存在一種誤解，認(rèn)為自閉癥是遺傳自父親或母親。

然而，這種二分法過于簡化自閉癥的復(fù)雜性。實際上，自閉癥的遺傳因素遠(yuǎn)比我們之前理解的要復(fù)雜得多。

基因與環(huán)境的交互作用

我們要知道基因和環(huán)境是如何共同作用導(dǎo)致自閉癥的。基因是影響自閉癥的一個重要因素，但并不是唯一的因素。事實上，大約80%的自閉癥病例可以歸因于遺傳因素，但這種遺傳復(fù)雜性遠(yuǎn)超簡單的父源或母源遺傳。

自閉癥的遺傳因素包括多種基因變異和環(huán)境因素的交互作用。這些基因變異可能是隱性的、顯性的、半隱性的，或者是基因組中的微小變化。它們可以在自閉癥的發(fā)生中起到重要作用。此外，環(huán)境因素也可能影響自閉癥的發(fā)生，包括孕期中的某些感染、化學(xué)物質(zhì)暴露等。

圖源：視覺中國

自閉癥有家族遺傳史嗎？

研究表明，自閉癥主要是一種遺傳性疾病，具有 40-80% 的遺傳性。

雖然研究人員仍在努力識別與自閉癥相關(guān)的所有基因，但他們確實知道某些基因突變會增加患自閉癥的風(fēng)險。如果家庭成員患有自閉癥，可能需要與醫(yī)生討論是否進(jìn)行基因突變篩查。

患有多動癥、精神分裂癥和雙相情感障礙等其他疾病家庭的兒童患自閉癥的風(fēng)險也較高。

這些變異的基因和自閉癥癥狀之間的關(guān)聯(lián)，使整個醫(yī)學(xué)界對自閉癥的認(rèn)識達(dá)到了一個全新的水平：過去人們只能從某些癥狀（比如語言落后、社交障礙、重復(fù)刻板行為等）發(fā)現(xiàn)自閉癥的線索，往往要等孩子長到2-3歲甚至更晚才能診斷。

但在不久的將來，我們或許可以在孩子剛出生時，就通過遺傳學(xué)分析和基因檢測發(fā)現(xiàn)孩子是否存在自閉癥傾向，并對這些孩子進(jìn)行早期干預(yù)治療，在最大限度上提高自閉癥患兒的康復(fù)水平。

自閉癥遺傳自母親還是父親？

在幾乎50%只有一名自閉癥兒童的家庭中，原因似乎是自發(fā)突變。

自發(fā)突變是受影響兒童的父母和兄弟姐妹中不存在的基因突變。

研究人員早就注意到，自閉癥兒童的父母以一種更加沉默的方式表現(xiàn)出他們孩子身上的一些特征。

2020 年的一項研究探討了家庭關(guān)系在解釋家庭成員行為相似性方面的作用。

該研究發(fā)現(xiàn)父母和孩子的行為特征與母親多基因評分，以及兒童廣泛的自閉癥行為特征之間存在關(guān)系。

這意味著自閉癥兒童可能會模仿母親微妙的類似自閉癥的行為。例如，如果母親在社交場合溝通有問題，那么她的自閉癥孩子也可能有溝通困難。

另一方面，一項基于 9,275 個全基因組分析的大型研究表明，一些與自閉癥相關(guān)的突變可能是從父親那里遺傳下來的。

該研究重點關(guān)注很少觀察到突變的側(cè)翼基因區(qū)域。研究人員報告說，這種罕見的變異從父親遺傳的數(shù)量是從母親遺傳的2倍。

研究表明，自閉癥患者中出現(xiàn)的一種稱為拷貝數(shù)變異的突變在女孩中的發(fā)生率是男孩的3倍。另一種稱為單堿基替換的突變在女孩中也更為常見。

然而，根據(jù)保護(hù)效應(yīng)理論，女性似乎對這些基因突變具有屏蔽效應(yīng)，但仍然將這些突變留給了她們的兒子。與具有相同突變的男性相比，她們的功能要好得多。

歸根結(jié)底，自閉癥是一種復(fù)雜的疾病，涉及數(shù)百個基因。

對于患有自閉癥的兒童，區(qū)分母親和父親的遺傳貢獻(xiàn)非常具有挑戰(zhàn)性。即使沒有精神障礙家族史，兒童也可能因自發(fā)突變而發(fā)生自閉癥。

基因測試可以幫助了解自閉癥的風(fēng)險，解釋可能的原因，并揭示最佳的管理和治療方案。

圖源：視覺中國

患有自閉癥的父母可以生出沒有自閉癥的孩子嗎？

是的，患有自閉癥的父母可以生出沒有自閉癥的孩子。雖然父母患有自閉癥會增加孩子患有自閉癥譜系的可能性，但這并不確定。

每個孩子的基因組成都是獨特的，自閉癥的遺傳是復(fù)雜的，不是由單一基因決定的。

總之，對于自閉癥的遺傳因素，我們需要超越簡單的父源或母源觀點。自閉癥是由多個基因共同作用的結(jié)果，這些基因可能來自父母雙方或其他家族成員。同時，環(huán)境因素也可能影響自閉癥的發(fā)生。

為了更好地理解自閉癥的遺傳機(jī)制，我們需要進(jìn)一步研究基因與基因、基因與環(huán)境的交互作用，以及這些交互作用如何影響大腦發(fā)育和功能。這有助于我們更好地預(yù)防和治療自閉癥，并為受影響的人們提供更好的支持和服務(wù)。

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