{"id":511,"date":"2018-08-07T10:53:55","date_gmt":"2018-08-07T10:53:55","guid":{"rendered":"https:\/\/www.autismconnect.com\/blogs\/?p=511"},"modified":"2018-09-17T17:06:26","modified_gmt":"2018-09-17T17:06:26","slug":"hidden-ties-between-epilepsy-and-autism","status":"publish","type":"post","link":"https:\/\/www.autismconnect.com\/blogs\/hidden-ties-between-epilepsy-and-autism\/","title":{"rendered":"Hidden Ties Between Epilepsy And Autism"},"content":{"rendered":"<p>Researchers uncovered a genetic malfunction, that according to them, activated epilepsy and intellectual disability alongside <a href=\"https:\/\/www.autismconnect.com\/\" target=\"_blank\" rel=\"noopener\"><strong>autism<\/strong><\/a>. The relationship between autism and epilepsy is standard yet complicated. The increased occurrence of epilepsy in ASD has been termed as being a \u201ccomorbidity\u201d of the other.<\/p>\n<p>&nbsp;<\/p>\n<p>Every gene\u00a0holds a definite place on a chromosome. Genes\u00a0provide instructions for making proteins, and proteins govern the function and structure of each cell in the body. Hence, these genes\u00a0are responsible for all the characteristics a person inherits. An error during cell division causes abnormality in the chromosomes that lead to physical as well as a neurological disorder.<\/p>\n<p>&nbsp;<\/p>\n<p>The sharp eyes of a Belgian doctor noticed the tight muscles and lack of language in Abigail who was just 19 months old.\u00a0 She asked her mother Gillian about her syndrome. Gillian was unaware of her daughter\u2019s condition.<\/p>\n<p>&nbsp;<\/p>\n<p>In 2013, under Dr. Meena Balasubramanian, Abigail was enrolled in Deciphering Developmental Disorders to detect the cause of her undiagnosed genetic conditions. The study revealed that she had a spontaneous mutation in an epilepsy\u00a0gene called HNRNPU. This alteration in the gene emerged as autism associated with a neurodevelopmental syndrome.<\/p>\n<p>&nbsp;<\/p>\n<p>The high rates of individuals with ASD, having no single type of epilepsy, is due to the heterogeneity and cognitive function in them. Some of the behaviours associated with autism and epilepsy include regression of skills like language and social functions and the most important risk feature being the overall cognitive function.<\/p>\n<p>&nbsp;<\/p>\n<p>Dr. Balasubramanian\u2019s findings suggest that mutations in HNRNPU gene lead to a condition characterized by distinctive facial features, seizures, intellectual disability, and often with autism.<\/p>\n<p>&nbsp;<\/p>\n<p>The possibility about the link between epilepsy and autism developed an interest in Evan Eichler and his colleagues at the University of Washington, Seattle. They assembled data from more than 11,000 individuals with neurodevelopmental conditions. They noticed that 11 people were detected with mutations in their HNRNPU and 8 of the individuals were also identified by the DDD. Eichler\u2019s team found three new individuals with mutations in the gene.<\/p>\n<p>&nbsp;<\/p>\n<p>According to the published studies, 5 out of 25 people with an HNRNPU appear to have autism features.\u00a0 They are also investigating how the mutations could contribute to autism.<\/p>\n<p>&nbsp;<\/p>\n<p>A genetic disorder\u00a0is one of the causes of high infant mortality. This condition can be passed on to a child if both the parents have a faulty gene or &#8220;carriers&#8221; of a disorder. Genetic disorders\u00a0are not curable but\u00a0can be prevented.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Researchers uncovered a genetic malfunction, that according to them, activated epilepsy and intellectual disability alongside autism. The relationship between autism and epilepsy is standard yet complicated. The increased occurrence of [&hellip;]<\/p>\n","protected":false},"author":7,"featured_media":512,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[11,92,91],"_links":{"self":[{"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/posts\/511"}],"collection":[{"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/comments?post=511"}],"version-history":[{"count":2,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/posts\/511\/revisions"}],"predecessor-version":[{"id":516,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/posts\/511\/revisions\/516"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/media\/512"}],"wp:attachment":[{"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/media?parent=511"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/categories?post=511"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.autismconnect.com\/blogs\/wp-json\/wp\/v2\/tags?post=511"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}