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Study reveals genetic and developmental differences in people with earlier versus later autism diagnosis

Researchers find different genetic profiles related to two trajectories that autistic children tend to follow. One is linked to early diagnosis and communication difficulties in infancy. The other is linked to later diagnosis, increased social and behavioral difficulties in adolescence, and higher rates of conditions like ADHD, depression, and PTSD.

An international study led by researchers at the University of Cambridge has discovered that diagnosed in early childhood has a different genetic and developmental profile than that of autism diagnosed from late childhood onwards.

The scientists say that the findings challenge the long-held assumption that autism is a single condition with a unified underlying cause.

Materialism and Consciousness: The Case of Philosophical Zombies David Chalmers

This is one of the Royal Institute of Philosophy’s 15-minute Philosophy Briefings, a series in which eminent philosophers provide their own view of a key philosophical topic, in straightforward and accessible language.

Each one is designed to be a resource for anyone who wants to know more about these questions, whether you are covering them at A-level, teaching them at A-level, studying Philosophy at university, or are simply curious to know more.

David Chalmers, Professor of Philosophy and Neural Science at New York University and co-director of NYU’s Center for Mind, Brain, and Consciousness, looks at whether there exist philosophical zombies.

PA-915 molecule shows long-lasting antidepressant effects without common side effects in mice

Depression and anxiety disorders are among the most widespread mental health disorders, with estimates suggesting that they affect around 264 million and 284 million people worldwide, respectively. Depression is a mood disorder characterized by persistent sadness and a loss of interest in everyday activities, while anxiety disorders are marked by high levels of nervousness, worry and fear, either in specific situations or generalized.

Today, there are several for both depression and , including both pharmacological drugs and specific types of psychotherapy. Yet available therapeutic strategies are not effective for all affected individuals; thus, identifying alternative treatments could be highly advantageous.

Researchers at the University of Osaka, Kobe University School of Medicine, Hamamatsu University School of Medicine and other institutes have recently developed a called PA-915, which could hold some promise for the treatment of depression, anxiety and stress-related disorders. In a paper published in Molecular Psychiatry, they showed that the molecule suppressed both anxiety-like and depression-like behaviors in mice who were placed under high levels of stress.

How gene mutations drive dementia in Parkinson’s disease

Parkinson’s disease causes both movement and cognitive deficits, and for a long time both were thought to be caused by the accumulation of a protein called alpha-synuclein in the brain. But a new Nature Communications study has found that the cognitive deficits arise through a different—and unexpected—mechanism.

The new findings suggest that mutations in a gene called GBA—which are a risk factor for developing Parkinson’s disease—drive by disrupting how neurons communicate with each other in the brain. Patients living with Parkinson’s disease can experience such as difficulty with concentrating and forgetfulness. Over time, many go on to develop dementia, in which they experience profound memory loss among other symptoms.

“Dementia is often the scariest thing for many patients with Parkinson’s disease, more so than ,” says Sreeganga Chandra, PhD, professor of neurology and of neuroscience at Yale School of Medicine (YSM) and the study’s principal investigator. “We are trying to understand the basis of cognitive dysfunction and whether we can find targets to ameliorate it.”

New digital cognitive test for diagnosing Alzheimer’s disease

“The unique aspect of our BioCog test is that unlike other digital tests, it has been evaluated in a primary care population, i.e. patients seeking treatment at a health centre because they are experiencing cognitive problems, such as memory problems. Combining the results of the digital test and the blood test increases the accuracy of diagnosing Alzheimer’s disease. The purpose of the test is to make things easier for primary care doctors,” says one of the authors.

The digital test is done by the patient individually on a tablet computer. The test measures:


Alzheimer’s disease is the most common cause of dementia. As new disease-modifying treatments for Alzheimer’s disease are now becoming available, both early and accurate diagnosis in a resource-efficient assessment process are becoming increasingly important, as not everyone responds to the new drugs. Seeking medical care for cognitive impairment is not necessarily the result of Alzheimer’s disease – it can for example be caused by depression, fatigue or other dementias.

“Primary care does not have the resources, time or specialist knowledge to investigate possible Alzheimer’s disease in the same way as specialised memory clinics. And this is where a digital cognitive test can make the biggest difference,” says the senior author.

Unlike pen-and-paper tests, which are generally used to assess cognitive impairment, digital tests provide a more detailed picture. More aspects and new variables that could not previously be measured as easily are included.

DNA Study of 117-Year-Old Woman Reveals Clues to a Long Life

There’s no escaping the unrelenting passage of time, but supercentenarians who live to see their 110th birthday have a peculiar ability to postpone the inevitable.

A thorough health evaluation of one of the world’s oldest people, Maria Branyas, suggests that one of the reasons she lived to 117 was that she possessed an exceptionally young genome.

Some of her rare genetic variants are linked to longevity, immune function, and a healthy heart and brain.

This Popular Diet Seems to Reduce Gum Disease, Scientists Say

There’s something rather special about the Mediterranean diet: already associated with a lower risk of Alzheimer’s disease, early death, poor mental health, and more besides, a new study links the diet to better gum health too.

The study, carried out by researchers from King’s College London and the University of Catania in Italy, involved 195 participants with an average age of 49, who were given a health check-up and quizzed on their dietary habits.

Those participants who stuck more closely to the plant-rich Mediterranean diet were less likely to have gum disease, the data showed – especially those who didn’t eat much red meat.

A review of the sufficient conditions for consciousness

In a recently published article, I reviewed over 100 years of neuroscience research to see if some brain regions are more important than others for consciousness. What I found suggests scientists who study consciousness may have been undervaluing the most ancient regions of human brains.

Consciousness is usually defined by neuroscientists as the ability to have subjective experience, such as the experience of tasting an apple or of seeing the redness of its skin.

The leading theories of consciousness suggest that the outer layer of the human brain, called the cortex (in blue in figure 1), is fundamental to consciousness. This is mostly composed of the neocortex, which is newer in our evolutionary history.

The human subcortex (figure 1, brown/beige), underneath the neocortex, has not changed much in the last 500 million years. It is thought to be like electricity for a TV, necessary for consciousness, but not enough on its own.

There is another part of the brain that some neuroscientific theories of consciousness state is irrelevant for consciousness. This is the cerebellum, which is also older than the neocortex and looks like a little brain tucked in the back of the skull (figure 1, purple). Brain activity and brain networks are disrupted in unconsciousness (like in a coma). These changes can be seen in the cortex, subcortex and cerebellum.

As part of my analysis I looked at studies showing what happens to consciousness when brain activity is changed, for example, by applying electrical currents or magnetic pulses to brain regions.

These experiments in humans and animals showed that altering activity in any of these three parts of the brain can alter consciousness. Changing the activity of the neocortex can change your sense of self, make you hallucinate, or affect your judgment.

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