AI detects new class of genetic mutations behind autism

Agencies
May 30, 2019

Using Artificial Intelligence (AI), researchers have discovered new genetic flaws that contribute to autism in people.

Most previous research on the genetic basis of disease has focused on the 20,000 known genes and the surrounding sections of DNA that regulate those genes.

However, even this enormous amount of genetic information makes up only slightly more than one per cent of the 3.2 billion chemical pairs in the human genome.

The other 99 per cent has conventionally been thought of as "dark" or "junk," although recent research has begun to disrupt that idea.

In their new finding, detailed in the journal Nature Genetics, the research team offers a method to make sense of this vast array of genomic data.

The system uses an AI technique called deep learning in which an algorithm performs successive layers of analysis to learn about patterns that would otherwise be impossible to discern.

The algorithm teaches itself how to identify biologically relevant sections of DNA and predicts whether those snippets play a role in any of more than 2,000 protein interactions that are known to affect the regulation of genes.

"This method provides a framework for doing this analysis with any disease," said Olga Troyanskaya, Professor at Princeton University in the US.

The approach could be particularly helpful for neurological disorders, cancer, heart disease and many other conditions that have eluded efforts to identify genetic causes.

In the case of autism, the researchers analysed the genomes of 1,790 families with "simplex" autism spectrum disorder, meaning the condition is apparent in one child but not in other members of the family.

The method sorted among 120,000 mutations to find those that affect the behaviour of genes in people with autism.

Among this sample, fewer than 30 per cent of the people affected by autism spectrum disorder had a previously identified genetic cause.

The newly found mutations are likely to significantly increase that fraction, the researchers said.

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Agencies
February 20,2020

The health and future of every child and adolescent worldwide is under immediate threat from ecological degradation, climate change and exploitative marketing practices that push fast food, sugary drinks, alcohol and tobacco at children, said a new report on Wednesday.

No single country is adequately protecting children's health, their environment and their futures, according to the report by a commission of over 40 child and adolescent health experts from around the world.

The commission, convened by the World Health Organization (WHO), the United Nations children's agency, Unicef, and medical journal the Lancet, found that while the poorest countries need to do more to support their children's ability to live healthy lives, excessive carbon emissions --disproportionately from wealthier countries -- threaten the future of all children.

"Despite improvements in child and adolescent health over the past 20 years, progress has stalled, and is set to reverse," said former Prime Minister of New Zealand and Co-Chair of the Commission, Helen Clark.

"It has been estimated that around 250 million children under five years old in low- and middle-income countries are at risk of not reaching their developmental potential, based on proxy measures of stunting and poverty. But of even greater concern, every child worldwide now faces existential threats from climate change and commercial pressures," Clark said.

The report, titled "A Future for the World's Children?", includes a new global index of 180 countries, comparing performance on child flourishing and sustainability, with a proxy for greenhouse gas emissions, and equity, or income gaps.

India ranked 131 among the 180 countries in the index.

The index shows that children in Norway, the Republic of Korea, and the Netherlands have the best chance at survival and well-being, while children in the Central African Republic, Chad, Somalia, Niger and Mali face the worst odds.

However, when the authors took per capita CO2 emissions into account, the top countries trail behind: Norway ranked 156, the Republic of Korea 166, and the Netherlands 160.

Each of the three emits 210 per cent more CO2 per capita than their 2030 target.

The US, Australia, and Saudi Arabia are among the ten worst emitters.

If global warming exceeds 4 degree Celsius by the year 2100 in line with current projections, this would lead to devastating health consequences for children, due to rising ocean levels, heatwaves, proliferation of diseases like malaria and dengue, and malnutrition, said the report.

The only countries on track to beat CO2 emission per capita targets by 2030, while also performing fairly (within the top 70) on child flourishing measures are: Albania, Armenia, Grenada, Jordan, Moldova, Sri Lanka, Tunisia, Uruguay and Vietnam.

The report also revealed the distinct threat posed to children from harmful marketing. Evidence suggests that children in some countries see as many as 30,000 advertisements on television alone in a single year, while youth exposure to vaping (e-cigarettes) advertisements increased by more than 250 per cent in the US over two years, reaching more than 24 million young people.

Children's exposure to commercial marketing of junk food and sugary beverages is associated with purchase of unhealthy foods and overweight and obesity, linking predatory marketing to the alarming rise in childhood obesity, said the report.

The number of obese children and adolescents increased from 11 million in 1975 to 124 million in 2016 - an 11-fold increase, with dire individual and societal costs.

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Agencies
June 28,2020

As the COVID-19 wave sweeps strongly across the country, including in Tamil Nadu, mental health experts say the pandemic has triggered panic attacks among those who tested positive for the virus, causing bouts of depression and even driving some to the brink of suicide.

According to experts, nervousness, fear of contamination, panic attacks, constant reassurance seeking behaviour, sleep disturbance, excessive worry, feelings of helplessness and probability of an economic slowdown are the major factors leading to depression and anxiety among the people.

Potential job losses, financial burden, uncertainty about the future and fears of running out of food and necessities add to the worries.

Online platforms too have seen a growing number of people seeking help for mental health issues, ranging from anxiety and loneliness to concerns over productivity and job loss since the outbreak of COVID-19.

Director of Institute of Mental Health here, Dr R Purna Chandrika said towards April end about 3,632 calls were received and psychiatric counselling was provided to 2,603 callers.

"We have dedicated services at our centres in the districts and the calls meant for government medical college hospitals are routed to the respective institutions," she said.

Due to heavy virus caseloads, making this city the major contributor to the state's tally, the Greater Chennai Corporation too started a free helpline to help residents cope up with stress during the pandemic.

"From the psychological perspective, we don't find a single human being who is not feeling some degree of stress or anxiety due to coronavirus. The intensity and impact varies from person to person," said Lt Col N T Rajan, director of Chennai-based Mastermind Foundation.

The organisation is involved in free counselling throughout India ever since the first case of the deadly virus was reported in the country.

The foundation's recommendation on not to deploy the vulnerable in the police force, especially those above 50 years and women personnel with children below five years for COVID-19 related duty, was accepted and implemented by the Punjab government.

Psychiatrists feel that further worsening situations could lead to severe mental health issues, even triggering suicidal tendencies.

"Further worsening depression may lead to severe mental health issues and suicidal tendencies," said Dr S Senthil Kumar, a psychiatrist.

However, not all of them require medicines, he added.

"The situation is serious. There should be counselling at three stages--on coping with the virus, how to face it if tested positive and how to face life once treated and discharged from the hospital," Rajan said.

Awareness was of paramount importance, he said and warned the pandemic could cause panic attacks while in hospital or drive them to the brink of suicide.

Tamil Nadu, one of the worst affected states with a virus count in excess of 74,000 as of Friday, has witnessed a few instances of suicides allegedly related to COVID-19.

Hari Singh, owner of popular 'Iruttu Kadai' halwa shop in Tirunelveli, allegedly died by committing suicide on Thursday after being tested positive for COVID-19. He was 80.

Earlier in May, two COVID-19 patients in their 50s allegedly committed suicide in separate instances, at the government hospitals they were admitted to for treatment.

In the city corporation limits, a three-member team comprising a psychiatrist, counsellor and a social worker work for the respective zones.

"We direct certain sections of people like those with withdrawal symptoms and people requiring pills, to visit the doctor at their corporation zonal at a specific time, for medicines," a health worker of the civic body said.

Health platform, Lybrate reported an increase of 180 per cent in online patient consultations related to mental health on its platform between March 1 and June 20 across the country.

The largest increase came from Mumbai and Delhi, followed by Pune, Ahmedabad, Chennai and Bengaluru.

The biggest jump was witnessed in the age group of 25 and 45 years.

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Agencies
March 15,2020

Should you let your babies "cry it out" or rush to their side? Researchers have found that leaving an infant to 'cry it out' from birth up to 18 months does not adversely affect their behaviour development or attachment.

The study, published in the Journal of Child Psychology and Psychiatry, found that an infant's development and attachment to their parents is not affected by being left to "cry it out" and can actually decrease the amount of crying and duration.

"Only two previous studies nearly 50 or 20 years ago had investigated whether letting babies 'cry it out' affects babies' development. Our study documents contemporary parenting in the UK and the different approaches to crying used," said the study's researcher Ayten Bilgin from the University of Warwick in the UK.

For the study, the researchers followed 178 infants and their mums over 18 months and repeatedly assessed whether parents intervened immediately when a baby cried or let the baby let it cry out a few times or often.

They found that it made little difference to the baby’s development by 18 months.

The use of parent’s leaving their baby to ‘cry it out’ was assessed via maternal report at term, 3, 6 and 18 months and cry duration at term, 3 and 18 months.

Duration and frequency of fussing and crying was assessed at the same ages with the Crying Pattern Questionnaire.

According to the researchers, how sensitive the mother is in interaction with their baby was video-recorded and rated at 3 and 18 months of age.

Attachment was assessed at 18 months using a gold standard experimental procedure, the strange situation test, which assesses how securely an infant is attached to the major caregiver during separation and reunion episodes.

Behavioural development was assessed by direct observation in play with the mother and during assessment by a psychologist and a parent-report questionnaire at 18 months.

Researchers found that whether contemporary parents respond immediately or leave their infant to cry it out a few times to often makes no difference on the short - or longer term relationship with the mother or the infants behaviour.

This study shows that 2/3 of mum's parent intuitively and learn from their infant, meaning they intervene when they were just born immediately, but as they get older the mother waits a bit to see whether the baby can calm themselves, so babies learn self-regulation.

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