Friday 15th January 2016- The Independent: Down’s syndrome test which is ‘safer and highly accurate’ approved for pregnant women on NHS

‘A simple new blood test which identifies Down’s syndrome has been recommended for high-risk women on the NHS, reducing the need for examinations which complications.

The highly accurate, non-invasive prenatal test (NIPT) reduces the need for expectant mothers to undergo invasive amniocentesis, which carries a 1 per cent risk of miscarriage and a one in 1,000 risk of serious infection.

The method, which can be processed in five days, also detects Patau’s and Edwards’ syndromes, which all occur when cells carrying an extra chromosome.

While most people with Down’s syndrome have learning difficulties, many babies with Edward’s and Patau’s die before or shortly after they are born.

Currently, women who are at 10 to 14 weeks are offered a blood test and ultrasound to check the foetus for abnormalities.

Government advisers at the UK National Screening Committee have now recommended that women with at least a one in 150 chance of their baby having Down’s, Patau’s or Edwards’ syndromes take the new test.

The examination uses the mother’s blood, which contains the foetus’ DNA, to screen for diseases. Studies show it has a 99 per cent accuracy for identifying Down’s.

Ministers must now approve the recommendations before they can be rolled out.

A study involving 2,500 high and medium risk women at Great Ormond Street Hospital (GOSH) last year showed that the test was safe and 99 per cent accurate.

However, Dr Anne Mackie, director of screening at Public Health England, said that while evidence suggest that NIPT is more accurate than current tests, questions remain about its use in real-life.

“We don’t know how good the test is for other genetic conditions – Edwards’ and Patau’s syndromes – that are currently part of the programme, and the evidence review also found that up to 13 per cent of the NIPTs carried out didn’t give any result at all.”

The tests will be introduced out across England to enable experts to alter the screening programme if necessary.  ‘

Related Articles:

Down’s syndrome test which is ‘safer and highly accurate’ approved for pregnant women on NHS

Non-invasive test for Down’s syndrome recommended for high-risk women- The Guardian

Hundreds of babies could be saved after Down’s Syndrome blood test is approved for NHS- The Telegraph

Safer Down’s test backed for NHS use- BBC News

Friday 8th January 2016- The Guardian: Alzheimer’s treatment closer as brain inflammation shown to be key

‘Scientists have fresh hopes for an Alzheimer’s treatment after experiments to reduce inflammation in diseased mouse brains prevented memory and behavioural problems in the animals.

Alzheimer’s disease has long been linked to disruption in the brain’s immune system, but the latest research adds to evidence that inflammation in the brain is not so much caused by the disease, but is a driver of the disorder.

Researchers at Southampton University studied tissues from healthy human brains and others affected by Alzheimer’s disease. They found that Alzheimer’s brains had more immune cells, known as microglia, than healthy brains.

The scientists next looked at microglia in mice that had been bred to develop a condition that resembles Alzheimer’s disease. In a series of experiments reported in the journal Brain, the team injected mice with a chemical that stops microglia numbers from growing too high.

In untreated mice, the disease caused brain cells steadily to lose their connections with one another. But treated mice kept their nerve cell connections and had fewer memory and behavioural problems. Crucially, the treatment maintained the normal levels of microglia needed for a healthy brain immune system. The treatment did not, however, stop the build up of characteristic amyloid plaques in the animals’ brains.

Diego Gomez-Nicola, who led the study, said the experiments were “as close to evidence as we can get” that inflammation and microglia were important for the progression of Alzheimer’s disease. The team now intends to work with the pharmaceutical industry to find a suitable drug that can be tested in humans. The chemical given to the mice acts on a receptor found on the surface of microglia called CSFR1.’

Related Articles:

Alzheimer’s treatment closer as brain inflammation shown to be key

Alzheimer’s: Curbing inflammation in the brain could help combat effects of disease, study finds- The Independent

Blocking brain inflammation ‘halts Alzheimer’s disease’- BBC News

Tuesday 24th November 2015- The Telegraph: The blind woman who switched personalities and could suddenly see

‘It had been more than a decade since “B.T.” had last seen anything.

After suffering a traumatic accident as a young woman, doctors diagnosed her with cortical blindness, caused by damage to the visual processing centers in her brain. So she got a seeing eye dog to guide her and grew accustomed to the darkness.’

‘Besides, B.T. had other health problems to cope with — namely, more than 10 wildly different personalities that competed for control of her body. It was while seeking treatment for her dissociative identity disorder that the ability to see suddenly returned. Not to B.T., a 37-year-old German woman. But to a teenage boy she sometimes became.

With therapy, over the course of months, all but two of B.T.’s identities regained their sight. And as B.T. oscillated between identities, her vision flicked on and off like a light switch in her mind. The world would appear, then go dark.

Writing in PsyCh Journal, B.T.’s doctors say that her blindness wasn’t caused by brain damage, her original diagnosis. It was instead something more akin to a brain directive, a psychological problem rather than a physiological one.

B.T.’s strange case reveals a lot about the mind’s extraordinary power — how it can control what we see and who we are.

To understand what happened with B.T. (who is identified only by her initials in the journal article) her doctors, German psychologists Hans Strasburger and Bruno Waldvogel, went all the way back to her initial diagnosis of cortical blindness. Her health records from the time show that she was subjected to a series of vision tests — involving lasers, special glasses, lights shined across a room — all of which demonstrated her apparent blindness. Since there was no damage to her eyes themselves, it was assumed that B.T.’s vision problems must have come from brain damage caused by her accident (the report does not say what exactly happened in the accident).

Waldvogel had no reason to doubt that diagnosis when B.T. was referred to him 13 years later for treatment for dissociative identity disorder, once called multiple personality disorder. B.T. exhibited more than 10 personalities, each of them varying in age, gender, habits and temperament. They even spoke different languages: some communicated only in English, others only in German, some in both (B.T. had spent time in an English-speaking country as a child but lived in Germany).

Then, four years into psychotherapy, something strange happened: Just after ending a therapy session, while in one of her adolescent male states, B.T. saw a word on the cover of a magazine. It was the first word she had read visually in 17 years.

At first, B.T.’s renewed sight was restricted to recognizing whole words in that one identity. If asked, she couldn’t even see the individual letters that made up the words, just the words themselves. But it gradually expanded, first to higher-order visual processes (like reading), then to lower-level ones (like recognizing patterns) until most of her personalities were able to see most of the time. When B.T. alternated between sighted and sightless personalities, her vision switched as well.

That’s when Waldvogel began doubting the cause of B.T.’s vision loss. It’s unlikely that a brain injury of the kind that can cause cortical blindness would heal instantaneously after such a long time. And even if it did, that didn’t explain why B.T.’s vision continued to switch on and off. Clearly something else was going on.’

See:

The blind woman who switched personalities and could suddenly see

Monday 21st September 2015- The Independent: Arthritis drug could soon reverse Alzheimer’s symptoms after successful tests on mice, say scientists

‘A painkiller widely used to treat rheumatoid arthritis has been shown to reverse the symptoms of dementia in the brains of laboratory mice, raising hope that there may soon be an effective treatment for Alzheimer’s disease, scientists have said.

The drug, salsalate, is a licensed pain killer but in mice with a form of dementia similar to Alzheimer’s it reversed the changes to a key protein in the brain that builds up in patients with the debilitating neurological disease, they found.

The researchers said it is the first time any drug has been shown to have an effect on the “tau” protein that accumulates in the brain of people with Alzheimer’s and a range of similar dementias known as “tauopathies”. It could lead to an effective therapy even for patients in the later stages of disease, the researchers said.

“We identified for the first time a pharmacological approach that reverses all aspects of tau toxicity,” said Li Gan, PhD of the Gladstone Institutes, a non-profit research organisation affiliated with the University of California, San Francisco.’

See:

Arthritis drug could soon reverse Alzheimer’s symptoms after successful tests on mice, say scientists

Monday 21st September 2015- The Guardian: One-third of people born in 2015 ‘will develop dementia’

‘One in three people born this year will develop dementia, according to new figures.

The Alzheimer’s Research UK charity warned of a “looming national health crisis” as the population ages.

It called for greater efforts across the globe to help develop new treatments.
Dementia affects 850,000 people in the UK, resulting in the loss of brain cells. The most common type is Alzheimer’s disease.

Early symptoms include problems with memory and thinking. As the disease progresses, people can experience difficulty with walking, balance and swallowing.

Alzheimer’s Research UK said age was the biggest risk factor for developing dementia.

As people live longer than ever before, the numbers with dementia will rise. The latest analysis, commissioned by the charity and carried out by the Office of Health Economics, was released to mark World Alzheimer’s Day.

It showed 27% of boys born in 2015 will develop the condition in their lifetime, alongside 37% of girls. Previous research from the same team has estimated that the development of a drug that could delay the onset of dementia by five years would cut the number of cases by a third.

See:

One-third of people born in 2015 ‘will develop dementia

Thursday 10th September 2015: The Independent: Alzheimer’s disease may be infectious, study claims

‘The “seeds” of Alzheimer’s disease may be transmitted from one person to another during certain medical procedures, scientists have found.’

‘The investigation has shown for the first time in humans that Alzheimer’s disease may be a transmissible infection which could be inadvertently passed between people.’

‘Scientists emphasised that the new evidence is still preliminary and should not stop anyone from having surgery. They have also stressed that it is not possible to “catch” Alzheimer’s by living with someone with the disease.

However, the findings of a study into eight people who were given growth hormone injections when they were children have raised the disturbing possibility that Alzheimer’s can be transmitted under certain circumstances when infected tissues or surgical instruments are passed between individuals.’

‘Until now, it was thought that Alzheimer’s occurred only as a result of inheriting certain genetic mutations causing the familial version of the disease, or from random “sporadic” events within the brain of elderly people, said Professor John Collinge, head of neurodegenerative diseases at University College London.

“What we need to consider is that in addition to there being sporadic Alzheimer’s disease and inherited or familial Alzheimer’s disease, there could also be acquired forms of Alzheimer’s disease,” Professor Collinge said.

“You could have three different ways you have these protein seeds generated in your brain. Either they happen spontaneously, an unlucky event as you age, or you have a faulty gene, or you’ve been exposed to a medical accident. That’s what we’re hypothesising,” he said.’

See:

Alzheimer’s disease may be infectious, study claims

Saturday 29th August 2015- BBC News: Speed of autism diagnosis must improve, experts say

‘Children with autism are having to wait an average of three-and-a-half years before diagnosis, experts claim.

Adults with the condition have to wait an average of two years, causing anxiety and depression, the National Autistic Society and academics said.

In a letter to NHS England, 12,000 of the society’s supporters have demanded action to cut the wait for diagnosis.

NHS England said it was working to cut waiting times, but diagnosis could be complex and involve different agencies.’

See:

Speed of autism diagnosis must improve, experts say

Tuesday 14th July 2015- The Telegraph: What is it like to be a girl with autism?

‘Beth Worboys was desperate to read a novel aimed at girls like her. “All the books about autism were for boys,” says the 17-year-old. “I wanted to read a book aimed at anxious, isolated girls like me”.

Thanks in large part to Beth, that novel now exists. At a 2014 autism event, the teenager, then a pupil at Limpsfield Grange, a Surrey-based school for girls with autism and communication difficulties – and the subject of an ITV documentary tomorrow – cornered Robert Pritchett, a leading figure at the National Autistic Society. She persuaded him to fund her book. The resulting novel, M is For Autism, was published last week. Co-written by the entire cohort of the school, it allows the reader to view the world through the eyes of a girl with autism. And with experts now recognising that female autism often goes undiagnosed, it’s a novel that could change lives.’

‘Aggressive and angry as a toddler and with delayed speech, she was different from her five siblings, and by the time she was 11 she was suffering from Tourette’s syndrome and obsessive compulsive disorder (OCD), both of which are linked to her autism.’

See:

What is it like to be a girl with autism?

Tuesday 14th July 2015- The World Health Organisation: Global health workforce, finances remain low for mental health

‘Worldwide, nearly 1 in 10 people have a mental health disorder, but only 1% of the global health workforce is working in mental health. This means, for example, that nearly half of the world’s population lives in a country where there is less than one psychiatrist per 100 000 people.

Huge inequalities in access to mental health services exist depending on where people live. On average globally, there is less than one mental health worker per 10 000 people, according to the World Health Organization’s Mental Health Atlas 2014, released today. In low and middle-income countries rates fall below 1 per 100 000 people, whereas in high-income countries the rate is 1 per 2000 people.’

See:

Global health workforce, finances remain low for mental health

Sunday 21st June 2015- The Guardian: NHS trial ‘transforms lives’ of young anorexia and bulimia sufferers

‘Nine-month trial led by King’s College London shows that speeding up treatment for eating disorders has a wide range of benefits’.

‘Ulrike Schmidt, professor of eating disorders at King’s College London (KCL), is explaining why she and a team of medical personnel have begun helping young adults suffering from anorexia and bulimia to start specialist treatment within weeks rather than the months of delay that are so common across the NHS. The first episode and rapid early intervention for eating disorders (Freed) trial has only been going for nine months but has so far given patients – mainly young women – access to vital treatment in an average of 33 days rather than the usual time of between four and eight months.

Its initial results show that cutting long waiting times makes patients much more likely to engage with the treatment; reduces the high dropout rate from such care; helps patients recover more quickly than normal; and is hugely appreciated by patients and their parents. Although only 45 patients have so far benefitted from this innovative approach at the South London and Maudsley (Slam) NHS foundation trust, it has the potential to help end what Schmidt calls intolerable waits for urgent treatment.’

See:

NHS trial ‘transforms lives’ of young anorexia and bulimia sufferers