Research points to future test for ALS

Researchers have uncovered new insights on the genetic causes of Amyotrophic Lateral Sclerosis (ALS), which is also known as Lou Gehrig's disease. These findings could uncover a new way to detect a genetic predisposition to ALS before the disease strikes, they say. 

A common mutation associated with ALS is an unstable repeated DNA sequence within the C9orf72 gene that could reach into the thousands. However, it is unknown how many repeats would be sufficient to cause the disease. A way to predict if the number of repeats increases to the damaging range is the addition of methyl groups to the repeats. This modifies the DNA, shutting off production of C9orf72.
The study -- led by Professors Ekaterina Rogaeva and Lorne Zinman of the U of T Division of Neurology -- followed three generations of a single family. While the grandparents and parents in the family were healthy, four of five adult children possessed the repeat methylation, as a result of a damaging mutation in the C9orf72 gene responsible for ALS. Two of them have already died due to complications of ALS.
The cause of ALS is unknown in about 90 per cent of patients. The remaining 10 per cent are attributed to genes passed down through parents. Scientists have long understood that people with genetically acquired ALS have a parent with the disease. However, the study by the Rogaeva and Zinman team found that neither parent nor grandparents had ALS.
In most people, it's common for the C9orf72 gene to have less than 30 repeats. The father examined in this study had 70 unmethylated repeats, which is not sufficient to cause ALS. Yet, in his children the mutation expanded to more than 1000 repeats. While the father had an overexpression of C9orf72, the children had reduced expression of that gene. The researchers believe these factors explain how his children acquired ALS, while he remained unaffected.
"With further research, we may be able to use this information to develop a genetic test that can identify if parents are likely to pass a mutation that may cause ALS in their offspring," said Zinman, who is also an associate scientist at Sunnybrook Research Institute and a staff neurologist at Sunnybrook Health Sciences Centre.
By expanding this research to include other multi-generational families, as well as study unaffected parents, the team hopes to identify a range of C9orf72 repeats that can be used to predict a genetic predisposition to ALS in children.
"We were fortunate to have the opportunity to look at a multiple generation family," said Rogaeva, who is also a professor at the Tanz Centre for Research in Neurodegenerative Diseases. "It gave us a much more complete picture of the genetic development between each branch of the family tree."
Their research was published in June 4 issue of The American Journal of Human Genetics.
 

 

This story is taken from Science Daily

Nearly one-third of early adulthood depression could be linked to bullying in teenage years

Bullying in teenage years is strongly associated with depression later on in life, suggests new research. Depression is a major public health problem with high economic and societal costs. There is a rapid increase in depression from childhood to adulthood and one contributing factor could be bullying by peers. But the link between bullying at school and depression in adulthood is still unclear due to limitations in previous research.

Depression is a major public health problem with high economic and societal costs. There is a rapid increase in depression from childhood to adulthood and one contributing factor could be bullying by peers. But the link between bullying at school and depression in adulthood is still unclear due to limitations in previous research.
So a team of scientists, led by Lucy Bowes at the University of Oxford, carried out one of the largest studies on the association between bullying by peers in teenage years and depression in early adulthood.
They undertook a longitudinal observational study that examined the relationship between bullying at 13 years and depression at 18 years.
They analysed bullying and depression data on 3,898 participants in the Avon Longitudinal Study of Parents and Children (ALSPAC), a UK community based birth cohort.
The participants completed a self-report questionnaire at 13 years about bullying and at 18 years completed an assessment that identified individuals who met internationally agreed criteria for depressive illness.
Of the 683 teenagers who reported frequent bullying at more than once a week at 13 years, 14.8% were depressed at 18 years. And of the 1446 teenagers who had some bullying of 1-3 times over six months at 13 years, 7.1% were depressed at 18 years.
Only 5.5% of teenagers who did not experience bullying were depressed at 18 years.
Around 10.1% of frequently bullied teenagers experienced depression for more than two years, compared with 4.1% from the non-bullied group.
Overall, 2668 participants had data on bullying and depression as well as other factors that may have caused depression such as previous bullying in childhood, mental and behavioral problems, family set up and stressful life events.
When these factors were taken into account, frequently bullied teenagers still had around a twofold increase in odds of depression compared with those who did not experience bullying. This association was the same for both males and females.
The most common type of bullying was name calling -- 36% experienced this, while 23% had belongings taken.
Most teenagers never told a teacher (41%-74%) or a parent (24%-51%), but up to 75% told an adult about physical bullying such as being hit or beaten up.
If this were a causal relationship up to 30% of depression in early adulthood could be attributable to bullying in teenage years, explain the authors, adding that bullying could make a substantial contribution to the overall burden of depression.
While this is an observational study and no definitive conclusions can be drawn about cause and effect, they say that interventions to reduce bullying in schools could reduce depression in later life.
In an accompanying editorial, Maria M Ttofi from the University of Cambridge writes that this study has clear anti bullying messages that should be endorsed by parents, schools and practitioners. She also calls for more research to establish the causal links between bullying and depression, and to drive specific interventions to reduce victimisation.
 

This story is taken from Science Daily

Smart watches, apps can make life easier for ADHD children

Researchers believe that children with autism or ADHD can benefit from technologies originally developed for the elderly. Children and young people with ADHD can find it difficult to keep appointments and easy to forget what they have to bring with them in different situations. Their lives can be made easier if they use a smart watch or a calendar displayed on a mobile phone or tablet. Such aids may use a combination of pictures, sounds or text to remind them about where they have to be and when, and the things they have to do. 

"Our experience is that it takes time to set the systems up and that using them can sometimes be difficult," says researcher Øystein Dale. "But we can also claim that these are aids that can be of benefit to these groups," he says. Dale, together with Lisbet Grut, his colleague at SINTEF, has been looking into how smartphones, tablets, smart watches and shared calendar systems can provide support for children and their families in their everyday lives.
Wake-up lights and shared calendars
Children and young people with ADHD can find it difficult to keep appointments and easy to forget what they have to bring with them in different situations. Their lives can be made easier if they use a smart watch or a calendar displayed on a mobile phone or tablet. Such aids may use a combination of pictures, sounds or text to remind them about where they have to be and when, and the things they have to do.
Fourteen year-old Lisa is one of the ADHD children taking part in the study. She finds it difficult to get going in the mornings and organise her day-to-day activities. In order to help her first get to sleep and then get up in the mornings, Lisa tried using a wake-up light linked to an iPhone app. The system simulated sunlight and played music that gave her a gentle start to the day. She only used the wake-up light for a few weeks up until the school summer holidays, but was pleased with how it worked. Her mother agreed that the morning routine went easier when Lisa used the light.
Lisa tried out a shared calendar app to help her in her everyday activities. She got reminders about things she had to do both on her iPhone and on a smart watch connected to the phone. Her mother also got a message on her phone as soon as Lisa checked off that she had completed an activity. However, some of the services provided by the technical aids proved to be unstable. Moreover, Lisa didn't like the smart watch which she found was too big for her wrist and stopped using it.
The original set-up using a shared Google calendar was swapped for an Apple product involving a built-in task list with reminders. "This was better suited to Lisa's and her mother's needs," says Grut. "Mother entered the things that had to be done, and Lisa checked them off on the phone when she had finished them," she says.
A lot of choice
There is a huge number of technologies on the market. On the positive side, there is a lot of choice. However, the wide variety of technologies available makes it difficult to navigate the market and identify the system that works best in individual cases. It is important that systems intended to support children are not made up of too many different components. It is difficult to have to carry lots of devices around -- all of which have to be operated differently. During the testing process, the researchers also found that set-ups consisting of many interconnected components are vulnerable to technical problems. A good example is when a calendar is shared between many people involving multiple appointment reminders on both mobile phones and smart watches. It proved difficult to get such systems to function consistently well over time.
Quality of life for a vulnerable group
"We believe that our knowledge about how technology can be applied may enable children to function better in their day-to-day lives, both at school and in other social situations," says Dale. "This will contribute towards enhancing their quality of life, and that of their families," he says. "To achieve this the children and their families need effective guidance and facilitation, and close supervision by professionals over time. The positive aspect here is that these days children probably own and use tablets and similar technologies all the time, and are curious and eager to try new ones out," says Dale.
 

This story is taken from Science Daily