{"id":57958,"date":"2015-08-03T21:15:55","date_gmt":"2015-08-03T13:15:55","guid":{"rendered":"https:\/\/canadianinquirer.net\/v1\/?p=57958"},"modified":"2025-01-16T22:52:21","modified_gmt":"2025-01-17T03:52:21","slug":"some-cerebral-palsy-cases-caused-by-genetic-anomalies-not-just-brain-injury-study","status":"publish","type":"post","link":"https:\/\/canadianinquirer.net\/v1\/2015\/08\/03\/some-cerebral-palsy-cases-caused-by-genetic-anomalies-not-just-brain-injury-study\/","title":{"rendered":"Some cerebral palsy cases caused by genetic anomalies, not just brain injury: study"},"content":{"rendered":"
\"TCAG<\/a>
TCAG DNA Synthesis Facility (Photo from Wikipedia\/ The Hospital for Sick Children<\/a>)<\/figcaption><\/figure>\n

TORONTO \u2013 Cerebral palsy, the most common cause of physical disability in children, has long been thought to result from brain injury in the fetus. But new Canadian research is challenging that notion, finding that at least one in 10 cases likely has an underlying genetic cause.<\/p>\n

\u201cOur findings were shocking, actually,\u201d said principal investigator Stephen Scherer, director of the Centre for Applied Genomics at Toronto\u2019s Hospital for Sick Children.<\/p>\n

So ingrained has medical dogma been around the root causes of cerebral palsy that \u201cwhen I showed the results to our clinical geneticists, initially they didn\u2019t believe it,\u201d he said.<\/p>\n

About two in every 1,000 babies born are affected by cerebral palsy. An estimated 50,000 Canadian children and adults have the condition, which leads to varying degrees of motor impairment, including muscle spasticity and involuntary movements.<\/p>\n

Symptoms can include epilepsy as well as learning, speech, hearing and visual impairments.<\/p>\n

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Some with the disorder are mildly affected, while others can\u2019t walk or communicate.<\/p>\n

Traditionally, cerebral palsy was believed to be caused by a stroke or infection of the brain in the developing fetus, or by birth asphyxia \u2013 a lack of oxygen to the infant during delivery.<\/p>\n

But genetic testing of a group of affected children from across Canada found that in 10 per cent of cases, structural changes to the DNA appear to have given rise to the condition.<\/p>\n

The research team, which includes physicians at the McGill University Health Centre in Montreal, performed genome sequencing tests on 115 children with cerebral palsy and their parents.<\/p>\n

Ten per cent of the children were found to have DNA alterations known as copy number variations, or CNVs, that affect clinically relevant genes. CNVs can be present as deletions, additions or reorganized segments of DNA that can lead to disease.<\/p>\n

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<\/p>\n

\u201cIn five per cent, we found these spontaneous, massive changes,\u201d affecting dozens or even hundreds of genes in some children, said Scherer. \u201cFor five per cent, these big changes are the cause of their CP.<\/p>\n

\u201cThe other five per cent were smaller changes, but affect lots of genes and in some cases were inherited from the parents.<\/p>\n

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And we think they’re involved in the medical complexities these kids have.\u201d<\/p>\n

The study, published Monday in the journal Nature Communications, also shows there are many different genes involved in cerebral palsy, just as there are in autism spectrum disorder and other neurodevelopmental conditions.<\/p>\n

\u201cI think what\u2019s really interesting here is that what was thought to be an almost entirely environmental disorder (caused by fetal injury or infection) has a significant genetic component,\u201d said Scherer.<\/p>\n

\u201cI can’t imagine having a child who\u2019s got any disorder and not having some type of an explanation (as to why),\u201d he said.<\/p>\n

\u201cSo I think it\u2019s pretty exciting that we can actually provide for these spontaneous cases that the parents didn\u2019t do anything wrong. They didn\u2019t make a wrong decision in their pregnancy or eat the wrong food or expose the fetus to the wrong thing. It was just a random genetic change.\u201d<\/p>\n

Dr. Maryam Oskoui, a pediatric neurologist at Montreal Children\u2019s Hospital and a study co-author, agreed parents want to know what caused their child’s cerebral palsy, but often they don\u2019t have a clear explanation.<\/p>\n

\u201cFor most kids we can find some risk factors \u2013 you were born early or you were exposed to this or that \u2013 but they\u2019re always left kind of wondering: \u2018If I had done something differently …\u2019 Knowing is a big part of the process of dealing with such a diagnosis.\u201d<\/p>\n

Genetic testing of children with CP is not recommended by the American Academy of Neurology, which provides guidelines for doctors, nor is such sequencing commonly conducted, Oskoui noted.<\/p>\n

But given their findings, the researchers are calling for genetic testing to be a routine part of the CP diagnostic process.<\/p>\n

Such DNA sequencing would also tell parents if they carry genetic anomalies that could be passed on to future children, Scherer noted.<\/p>\n

Emily Diamond’s son Bennett, 4, was diagnosed with cerebral palsy at six months after she noticed he wasn’t developing in the same way as her first two children.<\/p>\n

\u201cI was trying to teach him to sit and I couldn\u2019t straighten his legs,\u201d Diamond said from her Montreal home. \u201cHe didn\u2019t bring toys or the facecloth in the bath to his mouth, as most kids do. He didn\u2019t play with his feet and he didn’t babble the same way babies do at that age.\u201d<\/p>\n

While his diagnosis was a shock, Diamond said she and her husband feel lucky that Bennett isn\u2019t worse off. Though he doesn\u2019t walk or speak, he has no epilepsy, doesn\u2019t need a feeding tube as some CP kids do, and appears to be unharmed intellectually.<\/p>\n

Bennett wasn\u2019t part of the study, so he hasn’t had his genome sequenced, said his mom, who was told by doctors that his cerebral palsy was likely linked to a ruptured abdominal aneurysm she suffered during her second trimester that required emergency surgery.<\/p>\n

\u201cSo I don\u2019t know if he has any of these genetic markers or not,\u201d she said. \u201cAt the same time, there\u2019s something specific (the aneurysm) they can point to.<\/p>\n

\u201cUnfortunately, there are parents out there who have no idea \u2013 there was no prenatal event, no trauma during birth, yet their children have CP. So they\u2019re left in the dark as to what happened.<\/p>\n

\u201cI think this research that\u2019s coming out is going to give them a little bit of closure, a little bit of an answer, saying that this isn\u2019t something we did, this isn\u2019t something we could have prevented.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

TORONTO \u2013 Cerebral palsy, the most common cause of physical disability in children, has long been thought to result from …<\/p>\n","protected":false},"author":33,"featured_media":57966,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[37],"tags":[35],"class_list":["post-57958","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-original","mauthors-sheryl-ubelacker","mauthors-the-canadian-press1"],"_links":{"self":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts\/57958","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/users\/33"}],"replies":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/comments?post=57958"}],"version-history":[{"count":1,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts\/57958\/revisions"}],"predecessor-version":[{"id":284764,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/posts\/57958\/revisions\/284764"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/media\/57966"}],"wp:attachment":[{"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/media?parent=57958"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/categories?post=57958"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/canadianinquirer.net\/v1\/wp-json\/wp\/v2\/tags?post=57958"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}