Chronic Fatigue Syndrome May Have a Significant Genetic Influence.

Chronic fatigue syndrome has multiple influencing factors, with genetics starting to emerge as a key player.

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Recent research is illuminating how genetics contributes to the development of chronic fatigue syndrome, also known as myalgic encephalomyelitis (ME/CFS). This latest study, the most extensive of its kind to date, identifies over 250 genes, significantly outpacing previous discoveries. The findings paves the way for targeted treatments for ME/CFS and enriches our understanding of how it varies from conditions like long COVID-19.

“We are exploring numerous possibilities, including new treatment options and repurposing existing medications,” remarks Steve Gardner of Precision Life in Oxford.

ME/CFS is a chronic and often debilitating illness characterized primarily by severe fatigue following even minor exertion. The cause is often linked to infections, yet not every individual exposed to these infections goes on to develop symptoms.

To deepen the understanding of this condition, Gardner’s team analyzed genomic information from over 10,500 individuals diagnosed with ME/CFS. This data originated from the DecodeME project, which notably found that patients with ME/CFS possess distinct genetic characteristics when compared to individuals without the disorder.

Subsequently, Gardner and colleagues cross-referenced this data with information from the UK Biobank, focusing on genetic variations known as single nucleotide polymorphisms (SNPs), which occur when one letter of the genetic code is altered.

While traditional analyses often evaluate one SNP at a time, Gardner notes, “The complexity of disease biology doesn’t operate that way. Multiple genes interact, with some enhancing and others diminishing each other’s effects.”

In a different approach, the researchers sought groups of SNPs linked to the risk of developing ME/CFS, uncovering 22,411 such groups drawn from 7,555 combinations of SNPs, out of an extensive dataset of over 300,000. They also discovered that individuals with a higher count of these SNP groups faced an increased likelihood of developing ME/CFS.

“This is where their progress begins,” adds Jacqueline Cliff from Brunel University, London.

The researchers proceeded to map the SNPs to 2,311 genes. Each gene plays a subtle role in an individual’s risk, culminating in the identification of 259 “core” genes that had a robust association with ME/CFS and contained the most frequently observed SNPs. This represents a profound advancement from the earlier August study, which identified only 43 genes.

“For drug discovery, it’s essential to focus on variants with greater prevalence and significant effect sizes,” Gardner states. While there are currently no specific medications for ME/CFS, symptomatic treatments like pain relievers and antidepressants may be offered, along with resources for energy management.

Danny Altman, a professor at Imperial College London, expresses optimism that investigations like this will highlight the severe impact of ME/CFS, a condition that has long been misunderstood. “We are gaining momentum in understanding genomics and pathophysiology.”

Previous studies have sought to pinpoint genetic risk factors for ME/CFS, but often duplicated findings. “It’s primarily about scale and statistical power,” explains Altman, emphasizing that inadequate sample sizes can overlook significant genetic signals.

In August, DecodeME researchers indicated several mutations in eight genomic regions, identifying 43 genes with links to ME/CFS risk, though not all could be validated in independent datasets. Nevertheless, PrecisionLife verified all eight regions, reinforcing their status as legitimate risk factors for the ailment.

ME/CFS is frequently compared to long COVID, given that both arise from infections and frequently result in post-exertional fatigue. In this recent study, researchers aimed to explore the connections between these conditions by analyzing gene lists associated with ME/CFS against those linked with long COVID-19. “Approximately 42 percent of the genes identified in long COVID-19 have been demonstrated in multiple cohorts of ME,” Gardner observes, underscoring the partially overlapping nature of these two diseases.

Despite this, Cliff cautioned that differing analyses of long COVID patients limit researchers’ confidence in the outcomes. The authors indicate that their genetic overlap findings represent a “minimal estimate,” implying a greater genetic similarity than previously assumed between these conditions.

Altman and his colleagues, including Rosemary Boyton, have recently secured £1.1 million in funding to explore the potential links between ME/CFS and long COVID-19. The focus will be on recruiting individuals with both conditions to conduct a comprehensive analysis that includes an overview of participants’ health, the immune system, and aspects such as latent viruses within the body and gut microbiome, believed to be contributors to these symptoms.

By delving into the mechanisms behind ME/CFS and long COVID, as well as individual variations, Altman aspires to create tailored interventions.

topic:

  • genetics/
  • chronic fatigue syndrome

Source: www.newscientist.com

Unraveling Polycystic Ovary Syndrome: New Insights into the Genetic Causes of PCOS

Visual representation of polycystic ovary syndrome showing enlarged ovaries

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Recent research has begun to shed light on the genetics behind polycystic ovary syndrome (PCOS), paving the way for potential new therapies.

PCOS affects up to 20% of women, leading to disrupted ovarian function characterized by at least two of the following: irregular or absent periods, elevated male hormones like testosterone, and the accumulation of immature eggs within cyst-like ovaries. Consequently, it can result in fertility challenges.

While the exact causes remain unclear, PCOS is believed to correlate with changes in the gut microbiome and hormonal imbalances during prenatal development. The condition also appears to have a hereditary component, with studies indicating that 70% of the risk is genetic. However, researchers have only pinpointed about 25 genetic mutations impacting sex hormone production and ovarian function, explaining roughly 10% of an individual’s risk.

To address this knowledge gap, Qiao Shigang and colleagues at Shandong University in Jinan, China, conducted a genomic study involving over 440,000 women from China and Europe, out of which 25,000 were diagnosed with PCOS, marking the largest gene analysis related to the condition to date.

The researchers discovered 94 genetic variants that appear to contribute to PCOS risk, with 73 being previously unrecognized. Notably, one mutation affects the gene responsible for the mitochondrial ribosomal protein S22, essential for mitochondrial function, an area that Zhao points out has connections in earlier studies discussing the link between PCOS and mitochondrial dysfunction.

Another newly identified variant impacts sex hormone-binding globulin, a protein that moderates the activity of sex hormones and is often found at reduced levels in women with PCOS.

Several of the remaining variants influence the function of granulosa cells in the ovaries, responsible for producing estrogen and progesterone and aiding in egg development during the menstrual cycle. This supports the hypothesis that PCOS is genetically influenced by fluctuations in sex hormone levels, according to Zhao.

In summary, the research indicated that these 94 mutations account for around 27% of the risk variation in PCOS among European participants and about 34% in the Chinese cohort.

“This study is significant because it enhances our understanding of the genetic factors associated with this condition,” remarks Elisabeth Stenner-Victorin from Karolinska Institutet, Sweden. Furthermore, it underscores the necessity of including diverse ancestral backgrounds in PCOS genetic research, according to Zhao.

Ultimately, the team identified medications that could modify the pathways affected by the recognized mutations. Some of these, like clomiphene, are already used for PCOS treatment; they stimulate ovulation which is often hampered by the syndrome. Additionally, the team discovered that betaine—sometimes utilized for homocystinuria treatment—might also benefit PCOS patients. Future studies using mice exhibiting PCOS-like symptoms could explore this treatment potential.

“Current treatments focus on alleviating symptoms, as there aren’t any medications that can cure PCOS,” states Stenner-Victorin. Typical interventions include clomiphene, contraceptive pills to manage periods, and metformin, a type 2 diabetes medication that may enhance fertility. However, effectiveness varies among individuals. “Identifying genetic clusters that affect PCOS risk will be essential for developing more targeted treatment strategies for these women,” she adds.

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Source: www.newscientist.com

Treatment Could Be the Most Effective Solution for Easing Irritable Bowel Syndrome

Irritable bowel syndrome may be alleviated by techniques taught in various therapies

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A new approach that alters behaviors in individuals with irritable bowel syndrome (IBS) could prove to be more effective than traditional treatments. When offered digitally, these methods might also enhance the speed of relief.

IBS is often accompanied by symptoms such as bloating, diarrhea, constipation, and abdominal pain. While the underlying cause is not entirely understood, disruptions in gut-brain signaling are thought to play a pivotal role. Factors such as intestinal infections and certain foods can irritate the gastrointestinal tract, sending distress signals to the brain, while psychological stress can trigger the opposite response. Patients with IBS are advised to explore relaxation techniques.

While dietary recommendations and medications, like laxatives, provide relief for some, others continue to struggle with symptoms. Consequently, researchers are investigating innovative alternatives, including fecal transplants. Behavioral therapy, often seen as a last resort by physicians, may actually offer greater benefits than standard care according to a 2020 review. This approach may surpass regular treatment efficacy.

Among the methods is cognitive behavioral therapy (CBT), which empowers individuals to modify their thoughts and behaviors to better cope with and accept their symptoms, and gut-directed hypnotherapy, which induces a trance-like state prior to signaling symptom improvement.

Following the release of more studies, Alexander Ford and his colleagues at the University of Leeds in the UK, some of whom contributed to earlier reviews, conducted a comprehensive review of 67 randomized controlled trials with over 7,000 participants. These trials compared behavioral interventions lasting 4 to 12 weeks against various control groups that received conventional treatments like dietary guidance and laxatives, or those on a waiting list for intervention.

“This represents the most extensive review of behavioral treatments for irritable bowel syndrome in terms of both the number of studies and participants,” stated Perjohan Lindfors from Karolinska Institutet, Sweden.

The findings indicate that CBT and gut-directed hypnotherapy, whether in-person or via apps and the internet, are more beneficial compared to standard treatments when participants evaluated their symptoms pre- and post-treatment.

Rather than typically being provided solely in-person after standard treatments fail, the results imply that behavioral therapies can be utilized much earlier in the process. Ford remarked, “Digital solutions can help expedite the delivery of these treatments.” He further mentioned that such approaches may allow for broader implementation of behavioral therapies. However, before any updates to guidelines can be made, further trials that directly compare digital therapies with traditional treatments are required, which Ford estimates could take another five years.

Additionally, as most participants were unaware of their assigned groups, a portion of the observed benefits may stem from a placebo effect, according to Lindfors. He proposed that trials involving full treatment versus partial treatment could assist in estimating the effect size, assuming all participants genuinely believed they were receiving effective behavioral therapy.

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Source: www.newscientist.com

Significant Genetic Variations Identified in Individuals with Chronic Fatigue Syndrome

Genetics could play a significant role in the development of chronic fatigue syndrome or myalgic encephalomyelitis.

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Recent large-scale studies have identified genetic factors that might increase the risk of developing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME). Researchers have associated eight regions of the human genome with this condition based on DNA analyses from over 15,000 affected individuals.

“Our research offers the first strong evidence for genetic influences,” says Sonya Chowdhury from the UK charity Action for ME.

In the long term, these findings may aid in creating new diagnostic tools and treatments for ME/CFS. This condition has been recognized for decades and is primarily characterized by a debilitating response to minimal exertion, often accompanied by fatigue after mental effort.

Chowdhury adds that the results provide “recognition and validation” for individuals suffering from this condition. “Many people have been dismissed with comments such as, ‘It’s not a real illness,'” she explains. “They visited doctors who often downplayed their symptoms.”

“This represents a significant breakthrough for patients,” notes Andy Devereux Cooke, co-founder of Science for ME, a forum supporting those with the condition.

The research, termed Decode, involved analysis of DNA from over 15,500 individuals with ME/CFS against approximately 260,000 samples from unaffected individuals.

“Eight genetic signals were identified,” explains Chris Ponting from the University of Edinburgh, UK. These genomic regions appear to differ significantly in individuals with ME/CFS, suggesting that genetic variants in these areas could influence the likelihood of developing the condition. The findings were announced at a press briefing but have not yet been published in scientific journals or preprint platforms.

Among these eight regions, the research team pinpointed 43 protein-coding genes, with 29 deemed particularly noteworthy. “Delving into these genetic signals reveals associations with both immune and nervous system functions,” Ponting states. “Notably, the activity of these genes is prevalent in brain tissue, indicating a potential link to nervous system involvement.”

Additionally, researchers uncovered immune system-related genes, particularly rabgap1l, which may significantly heighten the risk of CFS. This aligns with anecdotal reports from many individuals with the condition, who often cite prior mild infections as precursors to their symptoms.

“I believed there was something distinct about the immune systems of individuals suffering from ME/CFS,” comments Jackie Cliff from Brunel University in London, noting that this study represents a substantial advancement in ME/CFS research.

Despite the fact that ME/CFS is significantly more prevalent in women, this study found no differences in genetic susceptibility between men and women. However, the team has yet to analyze the X and Y sex chromosomes.

The next steps involve examining these eight genome regions in greater depth to comprehend how genetic variations translate into molecular and cellular processes, both with and without ME/CFS. This could potentially pave the way for diagnostic tests and targeted treatments addressing the fundamental mechanisms of the disorder. However, this progress is contingent upon securing research funding, which is currently limited, says Cliff.

ME/CFS is estimated to impact 67 million individuals globally. A 2017 report from Think Tank 20/20 Health estimated that it incurs costs of £3.3 billion annually to the UK economy due to decreased productivity and healthcare expenses. “It’s an overlooked and marginalized illness that deserves attention and investment,” emphasizes Ponting.

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Source: www.newscientist.com

Gluten May Not Be the Culprit Behind Many Cases of Irritable Bowel Syndrome

Gluten is a protein found in most types of bread.

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Some individuals believe that gluten can aggravate IBS symptoms, even though they consume proteins from wheat, barley, and rye without experiencing any discomfort.

IBS typically leads to abdominal pain, bloating, diarrhea, and constipation. Although the exact mechanism remains unclear, many affected individuals claim that gluten and its sources, which include wheat, can worsen their symptoms.

To determine the true triggers of these symptoms, Premysl Bercik and his team at McMaster University in Canada enlisted 28 participants with IBS who reported relief on a gluten-free diet.

Participants followed a gluten-free regimen for three weeks and then assessed their symptoms based on a scale from 0 to 500, averaging a score of 183.

They were then randomly given one of three types of cereal bars: one containing wheat, another with gluten alone, and a third that was free of both. The first two bars included a gluten dose similar to that found in four slices of bread, according to Bercik.

Although participants were informed that the bars may worsen their symptoms, they were unaware of the specific ingredients they contained.

After one week, participants rated the severity of their symptoms again and returned to a gluten-free diet for two weeks to reverse the effects of the bars. The experiment was repeated twice, ensuring each participant tried all three types of bars.

Following the exposure to the placebo bar, participants indicated a symptom increase of 50 points. Conversely, 11 participants reported worsening after consuming the wheat bars compared to 10 after the gluten-only bars.

Bercik notes, “All three challenges elicited symptoms in a comparable proportion of patients.”

While gluten and wheat may trigger IBS for some individuals, the findings indicate that others might be experiencing a nocebo effect.

Commentary accompanying the study by Sigrid Elsenbruch from the University of Duisburg-Essen, noted that participants were cautioned that the bars could worsen their symptoms.

Analysis of stool samples revealed that participants often did not adhere to the bar consumption as instructed. This raises the possibility that they may not have ingested sufficient gluten or wheat to specifically impact their IBS symptoms.

Bercik added that the research team is exploring how gluten and wheat might trigger IBS symptoms in some individuals, potentially by altering gut microbiota.

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Source: www.newscientist.com

Polycystic Ovary Syndrome May Be Inherited Through Chemical Modifications of DNA

Illustration of enlarged ovaries in an individual with polycystic ovary syndrome

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Polycystic ovarian syndrome (PCOS) may be transmitted through families via chemical markers that modify DNA structure, implying that medications that adjust these markers in embryos could potentially prevent the disorder.

Individuals with PCOS usually display at least two of the following three key traits: elevated levels of male hormones like testosterone, irregular menstrual cycles, and the presence of immature eggs that resemble cysts in the ovaries.

While this condition frequently runs in families, its inheritance pattern remains unclear. “Around 25-30 genetic mutations are associated with PCOS, but they only account for a minor part of the hereditary aspects,” explains Elisabet Stener-Victorin from the Karolinska Institute in Sweden.

Research on mice indicates that variations in epigenetic marks (chemical tags that regulate gene activity without changing DNA sequences) may also be influential. As eggs develop, most of these marks are believed to be erased, but some may persist as a possible means of inheritance.

To investigate this in relation to human PCOS, Qianshu Zhu from China’s Chungin Medical University and colleagues conducted an analysis of the epigenetic markers in eggs and embryos donated 3 days prior, revealing data from 133 and 95 PCOS donors respectively. “No one has truly explored this with human samples,” states Stener-Victorin.

The study revealed a correlation between PCOS donation and altered patterns in three epigenetic marks in eggs and embryos. Two of these marks contribute to silencing genes and helping to package them within cells, resulting in a tighter DNA coil around a protein called histone, rendering the genetic code less accessible for RNA transcription, a crucial step in protein synthesis. Meanwhile, the third type of mark activates genes by loosening the DNA coil.

Together, the epigenetic modifications related to PCOS could potentially affect the metabolic processes of eggs and embryos, thereby elevating the chances of passing on PCOS to the next generation. Nevertheless, more research is essential to understand how these changes influence PCOS symptoms in offspring, both in mice and humans, as noted by Stener-Victorin. “At this stage, I recognize these marks differ, and that doesn’t inherently mean they are harmful,” she remarks.

Additional experiments suggest that the researchers may employ medications to reverse epigenetic alterations, potentially mitigating the risk of PCOS. “If we observe that modifying these histone marks changes the next-generation characteristics of PCOS, it could present a critical prevention target,” Zhu stated in a press release. Furthermore, the team posits that clinicians might utilize PCOS-related epigenetic markers to choose the healthiest embryos during in vitro fertilization procedures.

Zhu presented these findings at the European Breeding Association’s Annual Meeting held in Paris on July 1st.

topics:

  • Epigenetics/
  • Women’s health

Source: www.newscientist.com

Study Finds Men More Prone to “Hard Heart Syndrome” Mortality

Following traumatic experiences, such as a divorce or the loss of a loved one, individuals may encounter symptoms like chest pain and shortness of breath.

This phenomenon, clinically termed takotsubo cardiomyopathy, is believed to arise from emotional or physical stress that triggers a surge of hormones, including adrenaline, which hampers the heart’s ability to contract effectively. While most individuals recover swiftly, a minority may face heart failure.

Wounded heart syndrome predominantly affects women; however, men have a mortality rate that is more than double that of women. A study published recently in the Journal of the American Heart Association highlights this disparity.

The research examined data from around 200,000 adults in the U.S. who were hospitalized for this condition between 2016 and 2020. It found that nearly 11% of men in this group died, compared to about 5% of women. This was supported by previous studies indicating a higher mortality rate among men.

“It’s consistently noted that men generally do not experience takotsubo syndrome as frequently, but when they do, the outcomes tend to be worse,” explained Dr. Harmony Reynolds, director of NYU Langone Health’s Center for Women’s Cardiovascular Research, who was not part of the study.

The differences between men and women could be tied to the triggers of their conditions, according to the cardiologist. In men, the syndrome is often instigated by physical stressors like surgery or stroke, whereas in women, the triggers tend to be emotional, such as job loss or the death of a loved one.

“Individuals facing emotional stressors tend to fare better,” noted Dr. Iran Wittstein, a cardiologist at Johns Hopkins Medicine who was not involved in the study.

“Men appear to have a higher risk of severe outcomes or mortality, suggesting that a more dangerous trigger is necessary for syndrome onset.”

Dr. Mohammad Movahed, the principal investigator of the study, added that men may also struggle more with recovery from takotsubo cardiomyopathy. Research indicates lower social support for men to help them cope with stress.

“If the stressor is transient and then removed, there could still be damage to the heart or diminished recovery chances,” Movahed, a cardiologist at the University of Arizona Sarver Heart Center, explained.

However, scientists continue to explore the underlying mechanisms of the syndrome and why fatalities occur in rare instances.

“Researchers are still pursuing to uncover the definitive causes of this condition,” Wittstein remarked.

Is stress the only trigger?

To diagnose takotsubo cardiomyopathy, physicians look for certain hallmark signs. Typically, in affected patients, parts of the heart muscle balloon out, but there are usually no blocked arteries, which would indicate a heart attack. Most patients can also identify stressors that led to their episodes.

“During these moments, we feel the weight on our hearts,” stated Dr. Matthew Tomey, a cardiologist at Mount Sinai St. Luke’s Hospital in New York City. “It’s as if heartache manifests physically.”

However, Wittstein cautioned that stress alone may not suffice to trigger takotsubo syndrome.

“Some individuals might have minor work-related frustrations, engage in a slightly intense jog, or experience irritation at a red light,” he described.

Reynolds shared that one of her patients had four instances of the syndrome, each stemming from a mild stomach bug that caused vomiting.

“She is quite averse to vomiting, which likely contributed to her incidents,” she noted.

Wittstein now posits that certain individuals may harbor an inherent sensitivity to takotsubo syndrome. His findings suggest that stress hormones narrow small blood vessels around the heart, limiting blood flow and making some individuals, especially those with high blood pressure or cholesterol, more vulnerable.

Research indicates that postmenopausal women are at an elevated risk of developing this syndrome, potentially due to decreased estrogen levels, which facilitate the dilation of small blood vessels around the heart.

However, Reynolds emphasized that further research is needed to fully understand these mechanisms.

“There’s a suggestion that sex hormones may play a role, but establishing that link is still an ongoing challenge,” she said.

It’s complex to manage and prevent

The intricate nature of takotsubo cardiomyopathy can complicate its prevention and treatment.

Doctors often seek ways to alleviate stress, sometimes prescribing medications intended for other heart conditions, such as beta blockers, or recommending meditation and mental health support.

“To date, we have not identified any preventive drugs that effectively reduce complications, mortality rates, or specific therapies,” Movahed stated.

The new study found that mortality rates associated with takotsubo syndrome remained relatively stable from 2016 to 2020.

However, Wittstein noted that the study relies on diagnostic codes assigned to hospitalized patients, which might overlook broader circumstances influencing a patient’s death, particularly regarding strokes or other neurological issues.

“I suspect many individuals recover from takotsubo syndrome but subsequently succumb to other complications,” he remarked.

The cardiologist advises patients to seek immediate medical attention if they experience chest pain or shortness of breath, rather than attributing it solely to stress.

“Only through a comprehensive evaluation at the hospital can we differentiate between this condition and a traditional heart attack,” Reynolds cautioned. “Thus, it’s critical not to ignore chest pain.”

Source: www.nbcnews.com

Are you unable to focus? You could be one of the 20 people affected by Cognitive Withdrawal Syndrome

Concerned that you may be dealing with ADHD? Have you ever caught yourself trailing off in the middle of a conversation, getting lost in your own thoughts? It is normal to lose focus, but if you constantly find yourself daydreaming and struggling to concentrate, you may be experiencing a lesser-known attention disorder known as Cognitive Withdrawal Syndrome (CDS).

While often mistaken for laziness, lack of motivation, or ADHD, CDS is actually a legitimate neurological disorder that is gaining more attention from scientists and researchers.


What exactly is cognitive withdrawal syndrome?

CDS was first described in the 1960s as “cognitive tempo slowing” and was rebranded in 2022 to better reflect its core feature: cognitive detachment.

“CDS is characterized by symptoms such as confusion, daydreaming, absent-mindedness, and drowsiness,” according to Dr. Sophia Boukas, an Academic in Psychology and Education at Brunel University, London, in BBC Science Focus. People with CDS often take longer to complete tasks, but this does not affect the quality of their work, they simply require more time.

Although CDS is gaining recognition, it has not yet been officially classified as a disorder. The Diagnostic and Statistical Manual of Mental Disorders is used by medical professionals to diagnose mental disorders.

Research suggests that CDS may impact 5-7% of children, comparable to ADHD, indicating that a significant number of people may be experiencing CDS symptoms without realizing it.

Is CDS a form of ADHD?

CDS and ADHD are distinct conditions, but they share similarities and overlaps that can cause confusion. While ADHD can manifest in three ways, primarily inattention, hyperactivity, or a combination of both, CDS is more closely associated with predominantly inattentive ADHD, rather than hyperactivity disorder.

Research shows that between 25 and 40 percent of youth with ADHD exhibit symptoms of CDS. Importantly, CDS can also occur in individuals without ADHD.

What treatments are available?

As CDS is not yet officially recognized as a disorder, seeking treatment can be challenging. However, some psychologists are using questionnaires and behavioral observations to help diagnose the condition, which may eventually lead to formal diagnostic criteria.

Organizations like Cincinnati Children’s Hospital are pioneering CDS assessment and treatment, offering resources such as psychoeducation, parent training, cognitive behavioral therapy, and more.

Cognitive behavioral therapy, sleep hygiene, and mindfulness practices are emphasized for managing CDS. Treatment options are still evolving, with non-stimulant medications showing promise for CDS, while stimulants commonly used for ADHD may not be as effective.

If you suspect you or your child may have CDS, it’s important to consult a medical professional for guidance on treatment options.

About our experts

Sofia Barbosa-Boucas is a Lecturer in Psychology (Education) at Brunel University, London, known for significant contributions to psychology and education.


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Source: www.sciencefocus.com

It is possible that Neanderthal children had Down syndrome

Reconstruction of a Neanderthal man at the Natural History Museum in Vienna, Austria

Neanderthal/Alamy Stock Photo

If the interpretation of the fossilized ear bones is correct, Neanderthal children with Down’s syndrome lived to at least the age of 6. The discovery adds to evidence that, far from being savage and heartless, Neanderthals routinely showed consideration for other members of their society, although researchers disagree about the extent to which children might have needed special attention.

“Neanderthals clearly cared about the people in their group, and this is a really great example of how much they cared.” Penny Spikins He is a researcher at the University of York in the UK, but was not involved in the study.

The Neanderthal fossils were found in the Cova Negra cave near the town of Xativa in eastern Spain, which has been excavated intermittently since the 1920s and reveals that Neanderthals lived there between 273,000 and 146,000 years ago.

Researchers cataloguing the animal remains at Cova Negra Mercedes Conde Valverde Researchers from the University of Alcala in Spain have identified a hominid bone fragment, which cannot be dated precisely because it was found in disturbed sediments, that includes part of the temporal bone at the side and base of the skull, as well as part of the inner ear.

Conde-Valverde and her colleagues used CT scans to create a 3D model of the bone, which allowed them to determine that it was from a Neanderthal, not a modern human: Judging by the state of bone development, the bone belonged to a child at least 6 years old, and possibly no older than 10.

The team found several peculiarities in the development of the inner ear, particularly in the three canals called the semicircular canals that are involved in hearing and balance. One of the canals was abnormally wide. The other connected to an adjacent chamber called the vestibular aqueduct, which is normally separate. What’s more, the cochlea, which is crucial for hearing, was particularly small.

According to Conde Valverde, this combination of characteristics is only seen in people with Down syndrome, a genetic condition in which people have three copies of chromosome 21 instead of the usual two. The condition can cause learning disabilities, hearing and balance problems, and distinctive facial features.

It has probably been around for as long as humans, according to a study of ancient DNA published in February. 6 cases of Down Syndrome They are found in babies and young children, and one of them dates back nearly 5,000 years.

The newly identified child would have needed more care than other Neanderthal children, Conde Valverde said — for example, attacks of dizziness, a symptom of Down syndrome, may have made it difficult for him to get from place to place.

“Maybe mothers need help,” she says, because the increased time required for childcare can take away from other important activities, like finding food, not just for mothers but also for fathers.

Conde Valverde says that other Neanderthals in the group would not have expected the child to be of practical help, so they must have cared for him out of pure compassion.

Sarah Turner A Down syndrome researcher at Concordia University in Montreal, Canada, believes this low expectation isn’t necessarily true: “People with Down syndrome contribute in many different ways to modern human societies,” she says, “and I’m sure that was true in Neanderthal societies as well.”

Neanderthal temporal bone fossil discovered in Cova Negra, Spain

Julia Diez Valero

“There’s a lot of diversity in what counts as a disability and how disabled people are treated in different relationships,” Turner says. “Compassion may be one motivating factor, but without knowing someone’s life and how they were treated and behaved, I don’t think you can say much about how and why they survived.”

Turner has previously studied wild primates. Can survive for a long time Even if they are born with a disability or developmental disorder. This includes: What is thought to be Down SyndromeThe mother survived as long as her older daughter had her help, but died after the daughter gave birth to a baby and was no longer able to help.

This new study: Neanderthal care and compassionFor example, Spikins says, an adult male Neanderthal found in Iraq’s Shanidar Cave had atrophied arms and damaged legs and was “probably deaf and blind in one eye. He lived 10 to 15 years after these injuries, so “he must have been well cared for.”

Both Conde Valverde and Spikins reject the idea that caregiving was carried out in the hope that help would come when the children grew up.

“The idea of analytically thinking about whether someone is going to be productive comes from our society,” Spikins says. The reality is, we evolved to live in close-knit groups, The instinct to care for one another It was very important. People with Down syndrome “tend to be very loving and very outgoing,” she says, “and that’s very important in a small community like this.”

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Source: www.newscientist.com

Malaria drug shows promise in treating polycystic ovary syndrome

The malaria drug artemisinin is extracted from the plant wormwood.

Frederick J. Brown/AFP via Getty Images

A drug already used to treat malaria may also be effective in treating polycystic ovary syndrome (PCOS).

A small study of 19 women with PCOS found that the commonly used drug artemisinin improved menstrual cycle regularity and reduced high testosterone levels that are common in PCOS patients.

The underlying cause of PCOS is unknown, but it is linked to several hormonal imbalances, including excess testosterone produced by the ovaries, which can lead to symptoms like irregular menstrual periods, infertility, and increased acne and body hair.

Affected people also tend to have reduced sensitivity to insulin, the hormone that regulates sugar, which leads to weight gain and exacerbates the hormonal imbalance.

Currently, PCOS patients are treated individually depending on their symptoms, for example undergoing laser treatments to remove body hair or taking birth control pills to regularize menstruation.

While investigating the effects of various drugs on fat cells in mice, Chi Kun Tang Researchers at Fudan University in Shanghai, China, found that artemisinin reduced symptoms in mice with PCOS-like conditions.

His team then gave 19 women with PCOS artemisinin for three months and found that all of them experienced a drop in testosterone levels, and most also saw a reduction in another substance called anti-Müllerian hormone. Associated with PCOSTwelve of the participants also experienced more regular menstrual cycles after taking the drug.

In other studies using mouse and human cells, the team found that artemisinin could reduce testosterone production in the ovaries.

Stephen Franks The Imperial College London researcher says that although the 19 women had a healthy BMI on average, weight loss tends to reduce PCOS symptoms, suggesting that artemisinin may work through another mechanism: improving insulin sensitivity. “If the results are as positive in a randomized trial as they are in this pilot study, it would be exciting,” he says.

Elisabeth Stener-Victorin Researchers at the Karolinska Institutet in Stockholm, Sweden, say the fact that artemisinin is already generally safe when used to treat malaria means that it could soon be repurposed as a new treatment for PCOS.

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Source: www.newscientist.com

Adopting a low FODMAP diet may be more effective than medication in reducing symptoms of irritable bowel syndrome

Eating less of some types of foods and more of others may ease irritable bowel syndrome

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Two types of diets are more effective at treating irritable bowel syndrome (IBS) than drugs, a trial has found.

One diet was designed to be low in FODMAPs, a group of carbohydrates similar to sugars found in dairy products, wheat, and certain fruits and vegetables. The second, less common approach used for IBS is an adaptation of a low-carbohydrate diet that is high in fiber and low in other types of carbohydrates, such as sugar and starch.

In a randomized trial, both diets showed better symptom improvement than standard drug treatment after four weeks.

IBS can cause mysterious symptoms such as diarrhea, constipation, bloating, and abdominal pain that increase or decrease over time. The underlying cause of this condition is unknown.

The usual advice is to avoid common triggers such as caffeine, alcohol and spicy foods. Symptomatic treatments such as laxatives for constipation and drug therapy for diarrhea may be given.

If these measures don’t work, you may want to consider cutting back on foods high in FODMAPs. FODMAPs tend not to be digested until they reach the colon, which is why they are thought to cause bloating and diarrhea. This encourages the colon to retain water, and when the molecules are consumed by bacteria, gas is produced and causes bloating.

Sanna Niebacka Researchers from the University of Gothenburg in Sweden wanted to find out how a regular low-FODMAP diet compared to an alternative approach: high in fiber but low in carbohydrates. In practice, this means eating high-fat, high-protein foods such as meat and dairy products, and sources of fiber include nuts, seeds, beans, and vegetables such as cabbage.

The research team asked around 300 people with IBS to use one of three approaches depending on their symptoms: take medication or adopt one of two diets. The diet provided people with free grocery delivery, as well as detailed meal plans and recipes.

After one month, 76% of the low-FODMAP group reported a significant reduction in symptoms, compared with 71% of the low-carbohydrate diet group and 58% of the drug treatment group.

The big surprise was that a low-carbohydrate, high-fiber diet that didn’t exclude FODMAP-containing foods was about as effective as a low-FODMAP approach, Nybacka says. “We can’t answer any questions as to why. It appears that altering carbohydrate content and reducing FODMAP intake may be beneficial.”

but hazel everitt Researchers at the University of Southampton in the UK say the trial would have been more informative if it had lasted longer. “The problem with many of the IBS diets that have been proposed is that they are very difficult to stick to long-term,” she says.

Participants were followed for up to six months, but during the last five months participants who were initially offered drug treatment were also given dietary advice.

Niebacka says one potential problem with the low-carbohydrate, high-fiber diet is that this group of people had slightly elevated blood cholesterol levels. Therefore, you should seek your doctor’s advice before adopting this diet, she says.

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Source: www.newscientist.com

Recognizing Burnout Syndrome: Insights from a Therapist

Work-related stress can sometimes lead to a condition called burnout, resulting in noticeable symptoms and chronic exhaustion.

For help understanding burnout, listening to a podcast episode of instant genius or speaking with Dr. Sarah Boss, a psychotherapist and clinical director at The Balance, can provide valuable insights.

The conversation provided has been edited for length and clarity.

What Causes Burnout?

Burnout typically develops as a result of prolonged stress from work overload or excessive demands, leading to chronic symptoms.

Although often associated with work-related issues such as excessive pressure, no rewards, or monotonous tasks, burnout can also result from family, social, and caregiver stress.

Credit: Kathryn Ziegler

Brain and Body Effects of Burnout

Burnout impacts the body’s nervous system and stress response, hindering the ability to recover and triggering a continuous state of stress. Prolonged periods of stress ultimately lead to burnout.

Differentiating Burnout from Stress, Anxiety, and Depression

Burnout is characterized by difficulties in relaxing and unwinding, noticeable changes in behavior, and physical symptoms, distinguishing it from other mental health issues.

Prevalence of Burnout

Personality traits, family environment, and lack of self-awareness can contribute to an increased risk of burnout. Perfectionists and overachievers are particularly susceptible.

Burnout Prevalence Among Young People

Youth experiencing job uncertainty, rapidly changing environments, and social media influences are more prone to burnout. The digital age has also led to increased stress and uncertainty.

Managing Burnout

To address burnout effectively, it is crucial to understand its underlying causes and seek support from therapists, coaches, or medical professionals. Adopting self-care practices, maintaining a balanced lifestyle, and addressing any problematic coping mechanisms are essential steps in overcoming burnout.


About Dr. Sarah Boss

Dr. Sarah Boss, a psychiatrist and psychotherapist with expertise in addiction, currently serves as the clinical director of The Balance, a rehabilitation and mental health center.

Source: www.sciencefocus.com