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Mutations In Father’s Sperm Can Predict Children’s Autism

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There’s no question that autism can be traced to a combination of genetic and environmental factors. One genetic contributor in particular has in recent years intrigued scientists studying autism: DNA mutations originating in fathers’ sperm.

Studies have linked autism risk to de novo mutations, or changes in DNA that arise spontaneously in sperm as the germline cell develops, or in the embryo after fertilization. Researchers estimate that such mutations might be involved in anywhere from 10% to 30% of autism cases, and that the older a father is at the time of conception, the higher the chance his sperm will result in de novo mutations that can contribute to autism spectrum disorder. In fact, with every decade of life, the number of de novo mutations in sperm doubles.

In a new study published in Nature Medicine, researchers led by a team at the University of California, San Diego (UCSD) set out to determine if they could match specific disease-causing genetic mutations in the DNA of children with autism to the same mutations in their fathers’ sperm.

The team analyzed DNA from eight sets of fathers and children. In the children, they looked for a phenomenon called mosaicism, which are genetic differences even among cells from the same person. Each time a cell divides, the process can generate mutations, or genetic mistakes—some can be harmful (for example, some can lead to cancer), but most are not because they occur outside of important genes in what are known as “DNA deserts.”

The researchers then matched these changes found in the children to those found in their fathers’ sperm. That confirmed that the de novo mutations were indeed playing some role in contributing to autism.

The researchers also determined what percentage of sperm produced by the father contained these de novo mutations. This knowledge, say the study authors, could potentially lead to a test that can help fathers of children with autism to know how likely they are to have another child affected by the condition.

Eventually, the genetic test could also tell parents-to-be if they are at increased risk of having a child with autism. The DNA sequencing technology used is basically the same as used for whole genome sequencing, and the price for that continues to drop, so this wouldn’t be an especially expensive tool.

Inhibitor CocktailsCurrently around 165 genetic mutations have been linked to autism, and conducting a deep analysis of a potential father’s sperm for some of these aberrations could let him know if he is at higher or lower risk of fathering a child who might be affected by autism. (The list of implicated genes continues to grow at a rapid pace, and at the time of the study, the scientists worked with a smaller number of culprit genetic variants).

In some of the eight fathers in the study, up to 10% of their sperm carried mutations; if these men decided to have more children, they would have the option of choosing whether they wanted to take measures to reduce the risk their children would be affected. Some, for example, might use IVF so they could screen their embryos for the mutations.

By Alice Park December 23, 2019

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Source: Mutations In Father’s Sperm Can Predict Children’s Autism

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Part of the joy and challenge of being a parent is making sacrifices so your children can hit traditional milestones: a high school graduation, going off to college, starting a life of their own. But for some parents – like Barbara Rivera, a mother of three with two autistic children – the sacrifices are far greater and the milestones far different than what she expected. (Caregiving; Season 2, Episode 8. Original Air Date: Saturday, December 20, 2014.)

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Number of Children Who Visit ER Due to Suicidal Thoughts Is Rising at a Shocking Pace

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More and more kids are visiting the emergency room for both attempted suicide and suicidal thoughts. According to a new study published on Monday, the number of suicide-related ER visits for children and teens ages five to 18 has nearly doubled since 2007, up from 580,000 to almost 1.2 million in 2015.

“The numbers are very alarming,” Dr. Brett Burstein, lead study author and a pediatric ER doctor at Montreal Children’s Hospital of McGill University Health Centre, told FOX 8, adding, “It also represents a larger percentage of all pediatric emergency department visits. Where suicidal behavior among the pediatric population was just 2 percent of all visits, that’s now up to 3.5 percent.”

The study, which appeared in JAMA Pediatrics, used data from the annual National Hospital Ambulatory Medical Care Survey run by the U.S. Centers for Disease Control and Prevention. Researchers analyzed children and teens from 300 emergency rooms across the country who were diagnosed with suicidal thoughts or suicide attempts.

In addition to the rising rate of visits, they found that the average age admitted was 13 years old and that almost half of the visits (43 percent) were for children between the ages of five and 11.

This came on the heels of a similar study published in the American Academy of Pediatrics’ journal, Pediatrics, which found that the number of young people visiting the emergency room due to “psychiatric reasons” between 2011 and 2015 was up nearly 28 percent. And in March, another national study revealed that the rate of depression among children and teens had increased over 60 percent since 2009.

The results have many medical professionals calling for improved mental healthcare for children moving forward. In Monday’s research letter, study authors explain that there is “a critical need to augment community mental health resources, ED physician preparedness, and post-emergency department risk reduction initiatives to decrease the burden of suicide among children.”

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Source: https://www.fatherly.com/news/number-emergency-room-visits-kids-suicide-doubled/

 

 

 

Grappling With Mortality In The White Mountains – Joshua Bright

 

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Last year, medical tests revealed that a rare genetic cardiomyopathy is slowly but surely mutating, expanding, and gradually weakening my heart. Though there are no outward symptoms yet, my heart pumps only four-fifths of what it should, and my future health feels less certain. At age 44, the more I thought about my mortality, the more I thought about my desire to live more fully. Recently, I completed a yearlong class called “A Year to Live” at the New York Zen Center for Contemplative Care. We discussed loss and fear, imagined having a terminal diagnosis, created wills and advance directives……….

Read more: https://www.outsideonline.com/2322006/hiking-white-mountains

 

 

 

 

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The Global Drug Industry Putting Your Life At Risk – Srinath Perur

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In late 2012, 60 people died in two cities in Pakistan after drinking cough syrup to get high. Syrups from two separate manufacturers were involved. It was found that both were using an active ingredient — dextromethorphan, a synthetic morphine-like compound — imported from the same manufacturer in India. Indian drug authorities put a halt to production while they investigated. Tests in Pakistan revealed that the medicines seemed to contain the correct amount of active ingredient. But further tests revealed something that was not supposed to be there……..

Read more: http://digg.com/2018/fake-drugs-global-industry

 

 

 

 

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Despite What Anti-Vaxxers Say, Vitamin K Shots Are Safe For Newborns – Lauren Strapagiel

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Babies are born with a deficiency in vitamin K, an important factor for proper blood clotting. So most newborns are given a shot of vitamin K soon after birth to prevent potentially life-threatening hemorrhages in the brain or intestines. It’s been standard practice since the early 1960s, but the rise in anti-vaccination rhetoric has also created a distrust around the vitamin K shot. And it’s all too easy to find risky or just plain false information. Search “vitamin K shot” on Google and some of the top results caution against them…..

Read more: https://www.buzzfeednews.com/article/laurenstrapagiel/vitamin-k-shot-helps-protect-newborns

 

 

 

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