{"id":158,"date":"2016-10-27T21:03:36","date_gmt":"2016-10-27T21:03:36","guid":{"rendered":"https:\/\/mylearningsource.wordpress.com\/?page_id=158"},"modified":"2021-11-12T06:33:34","modified_gmt":"2021-11-12T06:33:34","slug":"genetics-of-autism","status":"publish","type":"page","link":"https:\/\/enablenet.info\/wordpress\/en\/autism\/autism-2\/genetics-of-autism\/","title":{"rendered":"Genetics of autism"},"content":{"rendered":"<p>&nbsp;<\/p>\n<p><a href=\"http:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Genetics-of-autism.En270116.compressed.pdf\"><img loading=\"lazy\" class=\"size-full wp-image-616 alignright\" src=\"http:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/PDF-1.jpeg\" alt=\"\" width=\"142\" height=\"90\" \/><\/a><\/p>\n<p><strong><span style=\"font-size: 12pt; color: #000000;\">Is there a gene for autism? If either the mother or the father has a relative with autism than can we say that autism comes from that side of the family? Is there going to be a genetic treatment for autism?<\/span><\/strong><\/p>\n<p><span style=\"font-size: 12pt;\">There is no doubt that autism is a highly genetic condition, beacuse:<\/span><\/p>\n<ul>\n<li><span style=\"font-size: 12pt;\">if there is one child with autism in a family, the chance of having another child with autism are 10 to 20 fold higher than a family with no child with autism<a href=\"#_edn1\" name=\"_ednref1\">[i]<\/a>. Not every sibling of an autistic child will have autism, but the risk of recurrence of ASD in a sibling is much higher than in the general population. It is very difficult to estimate this risk accurately but from all the studies conducted so far the risk is about 10 to 25% or 1 in 10 to 1 in 4, depending on a number of factors. A good summary of the findings from the studies can be accessed <a href=\"http:\/\/www.earlistudy.org\/Recurrence-Risk-Fact-Sheet\/76\/\">here<\/a>. The risk is higher for boys than girls.<\/span><\/li>\n<li><span style=\"font-size: 12pt;\">monozygotic twins (who share a placenta in the womb and all the genes), have 80-90% concordance rate (the chance of both twins having autism), compared to a 0-10% concordance rate in dizygotic twins (who like siblings in a family don\u2019t share all the genes)<a href=\"#_edn2\" name=\"_ednref2\">[ii]<\/a><sup>,<a href=\"#_edn3\" name=\"_ednref3\">[iii]<\/a><\/sup>. Also, worth looking at <a href=\"https:\/\/jamanetwork.com\/journals\/jama\/fullarticle\/1866100\">this paper<\/a> to see the different levels of risks for other relatives.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-size: 12pt;\">It is worth remembering that while autism is highly genetic, it is not wholly genetic. The genetic contribution is 70-80%. That leaves a significant role for environment; how that role plays out is not yet fully understood.<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">Do we know which genes cause autism? The short answer is \u2018no\u2019. The massive amount of research done so far has indicated:<\/span><\/p>\n<ul>\n<li><span style=\"font-size: 12pt;\">A large number of genes, 200 to 1000 are likely to be involved<a href=\"#_edn4\" name=\"_ednref4\">[iv]<\/a><\/span><\/li>\n<li><span style=\"font-size: 12pt;\">These genes or, to be precise, genetic mutations or changes, are likely to interact with each other and with the environment to cause changes that lead to autism.<\/span><\/li>\n<li><span style=\"font-size: 12pt;\">While most genetic mutations or changes are carried in families and passed on by parents to the child, there are some that appear for the first time in a child (de novo) \u2013 there is no family history of autism in these families. Such cases account for less than 15% of individuals with ASD<a href=\"#_edn5\" name=\"_ednref5\">[v]<\/a>.<\/span><\/li>\n<li><span style=\"font-size: 12pt;\">No single gene has yet been identified that can on its own cause autism, most genes only add a small causal effect.<\/span><\/li>\n<li><span style=\"font-size: 12pt;\">Microscopically visible chromosomal alterations have been reported in fewer than 5% of individuals with ASD. The most frequent are located at chromosomal regions 2q37, 7q11, 15q11\u201313, 16p11, 22q11.2, and 22q13.3<a href=\"#_edn6\" name=\"_ednref6\">[vi]<\/a>.<\/span><\/li>\n<li><span style=\"font-size: 12pt;\">Rather than being \u201ccausal\u201d the genes increase susceptibility or vulnerability to autism. This vulnerability, when combined with environmental factors and stressors (many deriving from either immune dysfunction in the mother or the fetus\/neonate) mostly in prenatal and perinatal period, leads to the expression of autism<a href=\"#_edn7\" name=\"_ednref7\">[vii]<\/a>.<\/span><\/li>\n<\/ul>\n<h3><span style=\"font-size: 12pt;\">How do genes lead to ASD?<\/span><\/h3>\n<p><img loading=\"lazy\" class=\"aligncenter size-full wp-image-2066\" src=\"http:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Adolphs-R-autism.png\" alt=\"\" width=\"1280\" height=\"720\" srcset=\"https:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Adolphs-R-autism.png 1280w, https:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Adolphs-R-autism-300x169.png 300w, https:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Adolphs-R-autism-768x432.png 768w, https:\/\/enablenet.info\/wordpress\/wp-content\/uploads\/2017\/01\/Adolphs-R-autism-1024x576.png 1024w\" sizes=\"(max-width: 1280px) 100vw, 1280px\" \/><\/p>\n<p><span style=\"font-size: 12pt;\">There is an emerging picture of the pathways through which genes result in ASD<a href=\"#_edn8\" name=\"_ednref8\">[viii]<\/a><sup>,<a href=\"#_edn9\" name=\"_ednref9\">[ix]<\/a><\/sup>. In very broad terms the disrupted genetic expression, working in concert with environmental influences leads to impaired protein synthesis and immune function. There is widespread impact of this on neuronal development, neurotransmitters, synaptic structure and function, circuit miswiring due to difficulties with neuronal migration, axon pathfinding and synaptic function. This disruption is over the whole brain but is expressed more in some regions. The cognitive effects of this are also widespread affecting perception, processing and integration of information.<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref1\" name=\"_edn1\">[i]<\/a>Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, et al. 2011. Recurrence risk for autism<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 128:e488\u201395<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref2\" name=\"_edn2\">[ii]<\/a> Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, et al. 1995. Autism as a strongly genetic<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">disorder: evidence from a British twin study. Psychol. Med. 25:63\u201377<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref3\" name=\"_edn3\">[iii]<\/a> Folstein S, Rutter M. 1977. Infantile autism: a genetic study of 21 twin pairs. J. Child Psychol. Psychiatry<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">18:297\u2013321<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref4\" name=\"_edn4\">[iv]<\/a> Jason A. Chen, Olga Pe\u00f1agarikano, T. Grant Belgard,\u00a0 Vivek Swarup and Daniel H. Geschwind. The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology. Annual Review of Pathology: Mechanisms of Disease. Vol. 10: 111-144<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref5\" name=\"_edn5\">[v]<\/a> Huguet, G., Ey, E., &amp; Bourgeron, T. (2013). The genetic landscapes of autism spectrum disorders. Annual review of genomics and human genetics, 14, 191-213.<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref6\" name=\"_edn6\">[vi]<\/a> Microscopically visible chromosomal alterations have been reported in fewer than 5% of individuals<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">with ASD. The most frequent are located at chromosomal regions 2q37, 7q11, 15q11\u201313,<\/span><\/p>\n<p><span style=\"font-size: 12pt;\">16p11, 22q11.2, and 22q13.3<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref7\" name=\"_edn7\">[vii]<\/a> Antar, L. N., Ferretti, C. J., &amp; Hollander, E. (2012). Immune response and inflammation in autism spectrum disorder. Psychiatric Annals, 42(9), 342-346.<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref8\" name=\"_edn8\">[viii]<\/a> Geschwind, D. H. (2008). Autism: many genes, common pathways?. Cell, 135(3), 391-395.<\/span><\/p>\n<p><span style=\"font-size: 12pt;\"><a href=\"#_ednref9\" name=\"_edn9\">[ix]<\/a> Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., &#8230; &amp; Vorstman, J. A. (2014). Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. The American Journal of Human Genetics, 94(5), 677-694.<\/span><\/p>\n<p>&nbsp;<\/p>\n<p class=\"entry-title\"><a href=\"https:\/\/enablenet.info\/wordpress\/index.php\/autism\/autism-2\/developmental-regression\/\">Developmental regression&lt;<strong>PREVIOUS PAGE<\/strong><\/a>\u00a0 \u00a0<a href=\"https:\/\/enablenet.info\/wordpress\/index.php\/autism\/autism-2\/the-social-brain\/\"><strong>NEXT PAGE<\/strong><strong>&gt;The Social Brain<\/strong><\/a><\/p>\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>&nbsp; Is there a gene for autism? If either the mother or the father has a relative with autism than can we say that autism comes from that side of the family? Is there going to be a genetic treatment&#8230; <a href=\"https:\/\/enablenet.info\/wordpress\/en\/autism\/autism-2\/genetics-of-autism\/\" class=\"readmore\">Read more<span class=\"screen-reader-text\">Genetics of autism<\/span><span class=\"fa fa-angle-double-right\" aria-hidden=\"true\"><\/span><\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"parent":49,"menu_order":9,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_bbp_topic_count":0,"_bbp_reply_count":0,"_bbp_total_topic_count":0,"_bbp_total_reply_count":0,"_bbp_voice_count":0,"_bbp_anonymous_reply_count":0,"_bbp_topic_count_hidden":0,"_bbp_reply_count_hidden":0,"_bbp_forum_subforum_count":0},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v17.7.1 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Genetics of autism - EnableNet.Info<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/enablenet.info\/wordpress\/en\/autism\/autism-2\/genetics-of-autism\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"[:en]Genetics of autism[:hi]\u0906\u091f\u093f\u091c\u094d\u092e \u0915\u0947 \u0906\u0928\u0941\u0935\u0902\u0936\u093f\u0915 \u092f\u093e \u091c\u0947\u0928\u0947\u091f\u093f\u0915 \u0915\u093e\u0930\u0923[:] - EnableNet.Info\" \/>\n<meta property=\"og:description\" content=\"&nbsp; Is there a gene for autism? 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