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New Experimental Drug likely to have potential to Improve quality of life for Infants suffering from a rare Muscle Disease

Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births

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Representational image. Pixabay

New York, December 7, 2016: A new experimental drug may have the potential to improve the quality of life for infants suffering from a rare, lethal neuromuscular disorder, US researchers have found.

Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births.

It affects the nerve cells in the spinal cord that connect to the muscles, causing them to waste away resulting in progressive muscle weakness and difficulty in breathing and eating.

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Infantile-onset, which is the most severe form of the disease, occurs from a defect in the gene called SMN2, responsible for producing survival motor neuron (SMN) — a protein critical for normal cell function.

It affects babies under the age of six months. Less than a quarter of those diagnosed with the disease will live up to two years without major feeding and breathing support.

The study — a phase 2 trial involving 20 babies with infantile-onset SMA — showed the treatment with the drug nusinersen could increase the production of SMN protein by modifying a closely-related gene to compensate for the genetic defect.

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Apart from being safe for use in babies as young as five-week-old, nusinersen was also found to halt progression of the disease and in many cases improve motor function.

In addition, nusinersen sometimes enabled children to gain skills such as sitting, rolling over, and standing — usually not seen in SMA Type 1 — as well as improved survival without depending upon the continuous use of a ventilator, the researchers explained.

“With nusinersen, these infants are not only living longer, but living better,” said lead author Richard S. Finkel from Nemours Children’s Hospital in Florida, US.

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“SMA is no longer a death sentence for infants. This treatment is by no means a cure, but it is more than we’ve ever been able to offer these families before,” Finkel added, in the paper published in The Lancet. (IANS)

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Research Shows that People with Genetic Autism are Likely to Report Self-Harm Thoughts

For the study, the research team calculated the genetic likelihood for autism in 100,000 individuals from the UK Biobank Study

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Autism
Those with the highest genetic predisposition to Autism on an average have 28 per cent increase in childhood maltreatment and a 33 per cent increase in self-harm and suicidal ideation compared to those with the lowest genetic predisposition to Autism. Pixabay

People with a higher genetic likelihood of autism are more likely to report higher childhood maltreatment, self-harm and suicidal thoughts, according to a new study by an Indian-origin researcher.

The study, published in the journal Molecular Psychiatry, shows that the findings hold true even for those with a higher genetic likelihood of autism rather than a formal diagnosis.

Previous studies from the University of Cambridge established that autistic individuals experience higher levels of self-harm, including suicidal thoughts and feelings, and higher rates of childhood maltreatment.

“This new study extends our earlier work by showing that individuals who carry more of the genes associated with autism have higher risks for maltreatment and self-harm,” said study researcher Simon Baron-Cohen, Professor at University of Cambridge.

“Our work highlighting unacceptably higher rates of suicide in autistic people was published 5 years ago, yet almost no new support has been provided,” Baron-Cohen added.

For the study, the research team calculated the genetic likelihood for autism in 100,000 individuals from the UK Biobank Study who had their DNA analysed and had also provided self-reported information about childhood maltreatment, suicidal ideation and self-harm.

Those with the highest genetic predisposition to autism on an average have 28 per cent increase in childhood maltreatment and a 33 per cent increase in self-harm and suicidal ideation compared to those with the lowest genetic predisposition to autism.

Autism
This new study extends our earlier work by showing that individuals who carry more of the genes associated with Autism have higher risks for maltreatment and self-harm. Pixabay

“While we have found an association between a genetic likelihood for autism and adverse life events, we cannot conclude the former causes the latter,” said study lead author and Indian-origin researcher Varun Warrier.

“We suspect this association reflects that genes partly influence how many autistic traits you have, and some autistic traits such as difficulties in social understanding may lead to a person to be vulnerable to maltreatment, Warrier added.

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This research highlights the risks of such adverse outcomes for those with a high number of autistic traits, if adequate safeguarding and support aren’t provided. (IANS)