“The technology ‘ally’ of blind pregnant women: How they were able to ‘see’ their unborn babies”

An unexpected “gift of life” was provided by technology to a 44-year-old mother with vision problems. She managed to “see” her unborn baby through the sense of touch. The new type of ultrasound has a relief form and even combines Braille writing, so blind mothers can experience this milestone in their pregnancy.

Karen Tripp passes her fingers over the relief ultrasound of her baby. Unlike her previous pregnancy, this time she is able to feel all the characteristics of the fetus she is carrying.

Born with a rare eye condition, 44-year-old Karen from England never believed she could experience this touching moment for all future mothers.

“When I was pregnant ten years ago, it was very difficult. Ultrasounds were not a pleasant experience. Because the staff didn’t have the time to explain it to me,” she said.

In the 8th month of her pregnancy, technology, as well as her doctor, gave her the unique “gift” of feeling the image of her unborn baby, beyond just hearing its heartbeat.

Photos of Karen’s baby are included in the “Invisible World” exhibition, hosted for a few days in London, featuring a series of photographs taken by world-renowned photographers, some of whom also have vision problems.

Visitors will thus be able to have a unique tactile experience, designed entirely for people with little or no vision, including relief prints, audio descriptions, and incorporating Braille code.

Edited by Athena Korovesi

Autism – ADHD: What role do microbiota and antibiotics play in their appearance

The role of the gut appears significant in the emergence of neurodevelopmental disorders in children, according to recent study data published in Cell. Specifically, disrupted gut flora in the early years of life is linked to diagnoses such as autism spectrum disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) later in life, as revealed by the study led by researchers from the University of Florida and Linköping University.

This study is the first prospective study examining the composition of gut flora and a wide range of other factors in infants in relation to children’s neurological system development. Researchers identified many biological markers that appear to be related to future neurodevelopmental disorders such as autism spectrum disorder, ADHD, communication disorder, and intellectual disability.

“The remarkable aspect of the work is that these biomarkers were found at birth in umbilical cord blood or in the child’s feces at the age of one, over a decade before the diagnosis,” said Dr. Eric W Triplett, professor in the Department of Microbiology and Cell Science at the University of Florida in the United States, one of the study’s researchers.

The role of antibiotics

Autism: Turning the focus to parents with spectrum children – A psychologist explains

For the study, more than 16,000 children born between 1997 and 1999 were followed from birth to 20 years of age. Of these, 1,197 children, accounting for 7.3%, were diagnosed with autism spectrum disorder, ADHD, communication disorder, or intellectual disability.

A large number of lifestyle and environmental factors were identified through repeated surveys conducted during the children’s upbringing. For some of the children, researchers analyzed substances in umbilical cord blood and bacteria in their feces at just one year of age.

“We found in the study that there are clear differences in gut flora as early as the first year of life between those who develop ASD or ADHD and those who do not. We found correlations with some factors affecting gut bacteria, such as antibiotic treatment in the child’s first year, which is associated with an increased risk of these diseases,” explained Dr. Ludvigsson, senior professor at the Department of Biomedical and Clinical Sciences at Linköping University, who led the study together with Dr. Triplett.

Children who had recurrent ear infections in their first year of life were at an increased risk of being diagnosed with a developmental neurological disorder later in life. It may not be the infection itself that is the culprit, but researchers speculate that there is a correlation with antibiotic treatment. As they found, the presence of Citrobacter bacteria or absence of Coprococcus bacteria increased the risk of future diagnosis.

A possible explanation is that antibiotic treatment may disrupt the composition of the gut flora in a way that contributes to neurodevelopmental disorders. This risk may increase the likelihood of diseases associated with the immune system, such as type 1 diabetes and pediatric rheumatism, as shown in previous studies.

Other environmental factors

The present study also confirms that the risk of developmental neurological diagnosis in children increases if parents smoke. Conversely, breastfeeding has a protective effect, according to the study. Specifically, from umbilical cord blood samples for the detection of various substances from metabolism, such as fatty acids and amino acids, it was found that children who were later diagnosed had low levels of several important fatty substances in the blood. One of these, linolenic acid, necessary for the formation of omega-3 fatty acids and with positive effects on the brain.

Although the research is in its early stages and involves only a portion of children, and more studies are needed, the discovery that many biomarkers for future neurodevelopmental disorders can be observed at a young age opens up the possibility of implementing long-term preventive measures.

Increase of 115% in kidney patients undergoing dialysis, says the Nephrology Society

“Increase of 115% in kidney patients undergoing dialysis,” says the Nephrological Society – On the occasion of the second Thursday of March, which has been established globally as World Kidney Day.

An increase of 115% in the number of our fellow citizens undergoing hemodialysis and peritoneal dialysis is observed in our country during this period, according to the Nephrological Society of Cyprus.

In a statement issued on the occasion of the second Thursday of March, which is globally established as World Kidney Day, the Nephrological Society reports that kidney health problems are the 10th leading cause of mortality worldwide, while 1 in 10 people worldwide is affected by chronic kidney disease (CKD), and it is estimated that this number will continue to increase over time.

It is noted that even if only a small percentage of these individuals will require support through methods such as dialysis – such as hemodialysis – or kidney transplantation, in our country, these individuals amount to over 200 per year, a rate of inclusion that remains among the two highest in Europe over the past 10 years.

These rates are almost double the average for Europe and other Mediterranean countries, so “we observe an increase of 115% in the number of our fellow citizens undergoing hemodialysis and peritoneal dialysis in our country during this period. This continuous and prolonged increase in patients with serious kidney health problems is accompanied by a significant economic burden on the healthcare system, which, combined with inadequate planning and timely and proper management of CKD in its initial stages, has led to many shortages in specialized medical and nursing staff, areas that also face shortages globally.”

The message of this year’s World Kidney Day, “Kidney Health for Everyone Everywhere,” becomes even more important, it is noted. With the implementation of the General Healthcare System (GHS), it is added, access to healthcare services, both personal and specialist doctors, has become much easier for most residents of our island.

As stated, with more frequent and regular health checks, our primary goal of combating and timely addressing CKD, as well as other significant diseases that feed it – such as Diabetes Mellitus and Arterial Hypertension – becomes more feasible.

“A simple blood analysis to assess kidney function and glucose, a general urine examination to check for the presence of leukocytes (or albumin) or other signs of kidney damage, as well as blood pressure monitoring are often sufficient for the timely diagnosis and treatment of these diseases. As Diabetes Mellitus and Arterial Hypertension are contributory factors to the progression of CKD and affect more than 50% of the patients who are undergoing extrarenal dialysis therapies, it is also important to combat obesity and excessive salt consumption,” it is added.

In combination with what has already been implemented, the Nephrological Society of Cyprus (NSC) promotes and closely collaborates with the Health Insurance Organization (HIO) to adapt to Cypriot data and implement the guidance of the British National Institute of Clinical Excellence (NICE) for the diagnosis and management of CKD.

This process, it is noted, is now at an advanced stage, and we have already committed as a scientific body to contribute to the training and education of healthcare professionals for their correct use and implementation. We also promote the integration of new drugs into the GHS, whose effectiveness in treating CKD is supported by numerous serious and large clinical studies. The evaluation process of these drugs, it is reported, by the HIO and the Drug Advisory Committee has already begun.

Finally, for those patients reaching the final stage of CKD, it is noted that kidney transplantation offers the best clinical outcomes as well as better survival and quality of life.

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Vision: Where is the suspected location on the body for eye conditions that lead to blindness

Could the health of the eyes be related to the functioning of the intestine? A recent study reveals a unique correlation and the role played by the gut microbiota

Recent findings create hope that antibiotics could potentially treat certain genetic diseases that can lead to blindness.

For genetic eye conditions that lead to blindness, according to a recent study published in Cell, bacteria that escape from the intestine and “travel” to the retina may also be implicated. Until recently, specialists estimated that the eyes are usually protected by a layer of tissue that bacteria cannot penetrate. Therefore, these results are “unexpected” according to Dr. Martin Kriegel, a microbiome researcher at the University of Münster in Germany, who was not involved in the study. “This is a major shift in the paradigm we knew until now,” he adds.

Inherited diseases of the retina, such as retinitis pigmentosa, affect about 5.5 million people worldwide. Mutations in the Crumbs homolog 1 (CRB1) gene are the primary cause of these diseases, some of which lead to blindness. Previous studies have shown that bacteria are not as rare in the eyes as ophthalmologists previously believed, leading the authors of the study to wonder if bacteria cause diseases of the retina, says co-author Dr. Richard Lee, an ophthalmologist then at University College London.

As Dr. Lee and his colleagues found, mutations in CRB1 weaken the bonds between the cells lining the intestine, in addition to the role they have long observed in weakening the protective barrier around the eye. This conclusion prompted the study’s co-author, Dr. Lai Wei, an ophthalmologist at Guangzhou Medical University in China, to create mice with CRB1 mutations with reduced levels of intestinal bacteria. These mice did not show signs of distortion of the cellular layers in the retina, unlike those with typical gut flora.

Twin: New exoskeleton gives mobility to people with disabilities

A new robotic exoskeleton could allow individuals who have lost the ability to move their legs to stand up and even walk again. It can also help them walk independently, guiding their movements and keeping them upright as they participate in rehabilitation therapy.

Named Twin, the exoskeleton designed in Italy for the lower body was presented at the Museum of Science and Technology in Milan. It is still in the prototype stage and is being developed by scientists from the Istituto Italiano di Tecnologia (Italian Institute of Technology) and the Istituto Nazionale Assicurazione Infortuni sul Lavoro (National Institute for Insurance against Accidents at Work).

Designed for use by patients with reduced or absent mobility in the lower body, it moves their legs through motors located at the knee and hip joints. These motors are powered by an integrated battery, which is said to last for about four hours of use per one hour of charging. The Twin can be used in three different operating modes. In Walk mode, intended for individuals who cannot use their legs at all, the exoskeleton moves the user’s legs on their behalf and assists them in sitting and standing up. The person still needs to use crutches for balance, as with other assistive exoskeletons.

Retrain mode is for patients who still have some mobility in their lower limbs. It allows them to walk on their own to the extent they can, but provides adjustable assistance when needed. Throughout the process, the exoskeleton guides them towards a predetermined optimal trajectory of leg movement.

Finally, there is TwinCare mode, intended for individuals who have full use of one leg but not the other. In this case, the exoskeleton enhances the movement of the affected leg to match that of the healthy leg. In all three modes, a physiotherapist or the user themselves can adjust walking parameters, such as step length/type and walking speed, using a wirelessly connected Android tablet.

According to its designers, two things that make Twin stand out from similar exoskeletons are the fact that it is made from lightweight materials – aluminum alloy instead of steel, for example – and that it features an articulated design allowing for the removal of components for transport or upgrade.

The 4 early signs – sos that we suffer from vertigo and we don’t know it.

It can occur at any age. Audiologists share the red “lines” that urgently signal that we should check our ears as soon as possible

While we often believe that hearing loss is something that only happens to much older people, this is not actually true.

According to the National Institute on Deafness and Other Communication Disorders (NIDCD) in the United States, 1 in 8 people aged 12 and older has hearing loss in both ears, and approximately 28.8 million adults in the US could benefit from hearing aids. While difficulty in hearing may be the most obvious sign that we need to check our ears, it is not the only one.

We asked audiologists to share the main signs that it’s time to check our hearing. Here’s what they had to say:

Number 1: We struggle to follow conversations.

If we constantly find ourselves saying “what?” during conversations, it’s probably time to check our ears.

“Terry Zwolan, director of Audiology Access & Standard of Care for Cochlear Americas, says, ‘Making an effort to listen when we talk to others or to continue a conversation is very important. This may include struggling to hear when there is background noise and regularly asking people to repeat what they have said or often mishearing.'”

Number 2: We need to increase the volume of the sound on the television.

Whether others regularly tell us to turn down the volume of the television or we are surprised by the number we see on the volume control, this can be a sign that it’s time to check our hearing.

“We may find ourselves turning up the volume on the television or radio to a level louder than others prefer, or feel that people are mumbling (because of it),” he says.

Number 3: Our ears are ringing.

While ringing in the ears (or tinnitus) isn’t always a sign of hearing loss, it certainly can be at times. “Some people may experience persistent ‘ringing,’ buzzing, pain, or pressure in one or both ears,” says Zvolan. “Also, difficulties hearing from one ear may arise, it may be challenging to distinguish where sounds are coming from, or our own voice may sound different.”

Katie Campbell, an audiologist and Senior Director of Audiology at HearingLife Canada, emphasizes that experiencing symptoms like ringing in the ears is a good reason to consider getting a hearing test. “Ringing in the ears, or tinnitus, is usually associated with situations of hearing loss,” she states. “If it persists for an extended period, it’s a good idea to arrange for a hearing test.”

Number 4: We may struggle to hear the sounds of nature.

If we suddenly find it difficult to hear the sounds of nature, such as birds chirping or rainfall, this could be a red flag, according to Zvolan.

“Lazy eye” may be responsible for metabolic syndrome in adult life, study finds

A pediatric ophthalmic condition may jeopardize health in adult life, according to a recent study.

Amblyopia, also known as “lazy eye,” manifests during childhood, and its impact could extend into adulthood, causing various dysfunctions. Specifically, children who experience this condition are more likely to develop hypertension, obesity, and metabolic syndrome in adulthood, as well as an increased risk of heart attack, according to a recent study by researchers at University College London.

However, in their publication in eClinicalMedicine, the authors emphasize that although they identified an association, their research does not demonstrate a causal relationship between amblyopia and adverse health outcomes in adulthood.

Konstantinos N. Fellas: Mental Health, a Fundamental Challenge for the EU

Timely remark by the Senior Vice Rector of the University of Nicosia during an event in Larnaca, where the possibility that Mental Health could be the next Pandemic was emphasized.

“Mental health is one of the most significant challenges for the healthcare systems of EU member states,” emphasized Professor Konstantinos N. Fellas, Senior Vice Rector of the University of Nicosia, in a timely presentation during an event in Larnaca titled “We Can Do Better: Mental Health in the Workplace.” Professor Fellas clarified that according to credible reports, mental disorders, especially depression, constitute a major cause of disability worldwide. According to the World Health Organization, 5% of the global population lives with depression, with women, young people, and the elderly being more susceptible.”

In his presentation on the topic “The Psychosocial Legacy of the Pandemic on Youth,” Professor Fellas initially provided a summary of the frightening and unprecedented impacts of the Covid-19 pandemic that affected large segments of the Cypriot population and severely tested everyone, creating the impression that “we were now trapped in an extended nightmarish ordeal.” He spoke of anger, despair, uncertainty, fear, loneliness, and social exclusion that emerged as a result of the pandemic, while noting that the scientific community had warned about the short-term and long-term consequences on our mental health.

He reminded that a nationwide study conducted in 2022 by the University of Nicosia and the Cyprus Youth Organization revealed various negative emotions prevailing among the youth as a consequence of the pandemic. “A thousand young people aged 14-35 from all over Cyprus participated in the survey. 46% of them reported that their mental health deteriorated due to the pandemic,” he said. Furthermore, he added that 71% of young people aged 14-17 declared that their mental health was adversely affected, while 29% of the same age group expressed the need for psychological support since the beginning of the pandemic.

He didn’t fail to address the negative experiences of LGBTQ+ individuals during the pandemic. “A scientific study by the University of Nicosia and ACCEPT organization documented anxiety, melancholy, depression, loneliness, panic attacks, and suicidal tendencies. They felt ‘disconnected’ from the LGBTQ+ community, admitting that they struggled without this vital support network,” he emphasized.

Professor Fellas spoke about what children, their families, and educational staff faced upon their return to school, emphasizing that school is an ideal space to create bridges of communication and dialogue with children.

“We must speak to them honestly and treat them like young adults. Strengthening the mental resilience of children and cultivating optimistic thoughts and values are collective tasks that undoubtedly require the cooperation not only of educators and parents but the entire school, the relevant ministry, and various relevant bodies to help children adjust to the post-pandemic era,” he suggested. As he pointed out, adequate support from the state, the activation of appropriate structures, and the development of supportive programs are essential to heal the wounds caused by the pandemic.

He elaborated on the harsh consequences of the pandemic not only in Cyprus but worldwide, especially for young people whose lives were disrupted, filled with pervasive fear, forced isolation, imposed loss of their freedoms, sudden disruption of their school routines, distancing from their hobbies, and beloved friends. He concluded his speech by emphasizing that we must make education and training an absolute priority, reevaluating and reconsidering the intended role of the educational system beyond success in examinations, seeking to reconnect education with the mental world of young people.

“The legacy we owe to the new generation is the education to empower young men and women to be autonomous, casting off indifference and disdain, and turning towards cultivating a strong desire for progress and development,” he stressed.

The event where Professor Fellas spoke was organized by the Europe Direct Information Center of Larnaca Municipality and the Delegation of the European Commission in Cyprus, under the patronage of the Member of the European Parliament and rapporteur for the European Year of Skills, Loukas Fourlas.

Source: παιδεία news

ADHD & Hyperfocus: The Phenomenon of Extreme Concentration

Have you ever found yourself so deeply absorbed in what you’re doing that time passes by very quickly? Perhaps it’s playing a musical instrument, reading an exciting book, or learning a new skill.

For individuals who do not have ADHD (Attention-Deficit/Hyperactivity Disorder), this state of flow can be a pleasant or productive way to spend time. However, for those who suffer from ADHD, periods of hyperfocus can be both a blessing and a curse.

Hyperfocus is not an official symptom of ADHD. In fact, it sounds contradictory to what ADHD is more widely known for, which is inattention and lack of focus.

However, ADHD is not really a deficit of attention; it’s more of an abundance of attention. The challenge lies in learning how to regulate and control it.

When this excessive focus is not managed properly, you can experience what is known as hyperfocused ADHD. The good news is that you can learn to recognize hyperfocus and find ways to keep it under control!

At this point, I’d like to demystify many of the experiences that a person with hyperfocus goes through and address some misconceptions or misunderstandings. I want to delve into things like hyperfocus, overstimulation, “selective hearing,” “attention-seeking behaviors,” and emotional dysregulation.

A common characteristic for many neurodivergent individuals is the difficulty of verbally expressing what they are experiencing. They can sit in their own little world, and without the pressure of anyone standing in front of them, they let the words swell from within and flow out from their fingertips onto their laptop. Most, if not all neurodivergent individuals, long to share and have their stories heard.

“Hyperfocus, at least for me, feels almost like a way of being. I don’t feel like I choose my hyperfixations. I feel like they choose me, like a stray cat that shows up one day and decides it’s your pet now. Many of my hyperfixations have taken me by surprise, but one thing I know is that every hyperfixation feels like a Christmas gift from my brain.

Uruguay. Where is that? Oh, they speak an indigenous language more often than a colonial one? Tell me more! You mean mushrooms function like an internet network for trees? I’ll take five books. I just got a tattoo, and now I’m going to buy a tattoo suitcase on my hand and spend hours watching documentaries about the historical and cultural significance of tattoos.

Hyperfocus means I can quickly memorize a list of the 54 regions of Greece because I like the look of maps and I enjoy geography. It means I did really well in math class because there was nothing nice to look at or daydream about, but I excelled in history because the past is full of good stories and questions.

Hyperfocus feeds dopamine. That’s what those of us with ADHD desire. And that’s why every new fixation feels like Christmas. There’s a special kind of magic, almost like a new crush, when I discover a new hobby, and I’m ready to let my mind go on this adventure.”

What is ADHD Hyperfocus?

Hyperfocus occurs when you become fully immersed in something that interests you. This intense focus on a single topic can make you spend more time and energy on it than you intend to. If left unchecked, hyperfocus can lead to negative consequences and disrupt your daily functioning.

Individuals with ADHD are more likely to experience this heightened state of focus more intensely and frequently. In an ADHD hyperfocus state, you may disregard the passage of time and what is happening around you.

When you re-enter reality, you may become disoriented from your surroundings, as if coming out of a “trance.” It may also take some time to regain your orientation and adjust to “real life.”

If you have ADHD, you are more likely to become engrossed in something enjoyable or satisfying. This happens because ADHD changes how your brain perceives reward and satisfaction. Remember that this doesn’t make you a “lazy” or “irresponsible” adult. A brain with ADHD is simply wired to process information, stimulation, and pleasure differently than a brain without ADHD.

ADHD Hyperfixation vs. Hyperfocus

The terms ADHD hyperfixation and hyperfocus are often used interchangeably, but they refer to two different phenomena. ADHD hyperfixation refers to an intense and often prolonged state of concentration on a specific activity or object. This can lead to happiness, satisfaction, and sometimes increased productivity.

However, if not properly managed, a person may invest more time and effort into it than they can afford financially, neglecting their personal needs, duties, and everyday responsibilities. People with ADHD are more likely to experience symptoms of hyperfixation compared to those without ADHD.

On the other hand, ADHD hyperfocus refers to deep focus on a specific task or activity. Anyone can tap into this “flow state,” which is described as being fully dedicated to a task without internal distractions, fatigue, or boredom. Research also shows that this can increase productivity and is often associated with a sense of accomplishment.

While these two phenomena may be somewhat similar, hyperfixation is fueled by intense passion or interest in the activity. In contrast, hyperfocus is guided by tasks and often comes with clear goals and a strong sense of direction.

Controlling and regulating hyperfixation can be challenging. On the other hand, with hyperfocus, you can intentionally induce a “flow state” and adjust it as you wish.

Examples and Signs of Hyperfocus

When uncontrolled hyperfocus in ADHD occurs, a person may have an unhealthy obsession or addiction to a hobby, activity, or object. This is usually associated with the following signs:

  • Losing track of time
  • Disconnecting from the environment
  • Neglecting roles and responsibilities
  • Ignoring personal needs
  • Struggling to stop or change activities
  • Getting caught up in small details

Hyperfocus manifests differently from one person to another. Someone with ADHD may engage in a hobby like knitting or painting, or they might become engrossed in a random activity like cloud watching.

At times, this hyperfocus can be beneficial. Someone fully engrossed in a work-related task or project can dedicate hours to complete it without being distracted.

However, in other cases, it may affect how a person manages their daily tasks and responsibilities. For instance, someone who is deeply engaged in an activity might forget to eat, take a shower, or complete an important assignment.

The overflow of attention associated with ADHD is not necessarily a burden. You can harness this attention towards your current goals when you learn how to direct your focus.

How to Overcome Hyperfocus and Redirect Your Attention

You can overcome ADHD hyperfocus with professional support and proper strategies. Here’s how you can effectively manage your attention and make the most of it:

Set Healthy Boundaries

If you realize that a specific hobby or interest is taking up more and more of your time, try to set clear time boundaries for these activities. Here’s how you can set boundaries effectively:

  • Create a daily or weekly time limit for the activities or hobbies you’re fixated on.
  • Specify a time of day when these activities are allowed. For example, you can schedule them toward the end of the day to ensure you remain focused when working or studying.
  • Define the conditions under which you’ll allow yourself to engage in these activities, such as after exercising or during designated free time.
  • Ask friends and family to help keep you accountable by staying in touch with you.

Schedule Regular Breaks

Incorporate frequent breaks into your activities to prevent excessive immersion in them. Schedule a 5-10 minute break for every 30 minutes you dedicate to your favorite pursuits. During these breaks, you can have a snack, take a quick walk, or do something that helps you shift your focus away from the activity.

Stepping away from what you’re doing can prevent overindulgence in the activity and help you reorient your perception of time and reality.

Explore New Skills and Interests

Diversifying your range of hobbies makes it less likely that you’ll become excessively fixated on a specific activity. Challenge yourself by trying a new sport, learning a foreign language, or picking up a musical instrument. Volunteering is another great way to find enjoyment and fulfillment. When trying something new, it’s a good idea to approach it with healthy boundaries in mind.

Seeking advice and support

Seeking advice and support is crucial when dealing with ADHD hyperfocus. With a stable support system and professional guidance, you can manage your time and resources more effectively. Collaborating with a psychologist can create a safe space for discussing different strategies to help you avoid hyperfocus triggers, set firm boundaries, and prioritize daily activities.

Additionally, your psychologist may recommend Cognitive Behavioral Therapy (CBT) to assist you in managing ADHD hyperfocus and other related symptoms. This form of therapy can enhance motivation and focus while helping you address habits that affect your productivity and progress.

Utilize Tools and Resources

Effective time management is essential when dealing with ADHD hyperfocus. You can use various tools and resources to maximize your productivity, keep yourself focused, and better manage your time.

For example, consider using a time management app to create a daily schedule with time blocks for work and leisure. Additionally, you can try the Pomodoro Technique using a simple timer. This widely used time management method divides activities into intervals separated by short breaks.

A productivity app can help you track your daily responsibilities, ensuring that you complete everything you need to before indulging in leisure activities. ADHD hyperfocus doesn’t have to be the enemy of your productivity. It’s a common experience for individuals with ADHD, especially when engaging in activities they find interesting.

The tendency for hyperfocus doesn’t mean you have to stop doing activities you enjoy. What’s important is to establish the right boundaries, have a support system, and employ strategies to prevent these interests from taking over your life.

Source: Notos Press

Hopes for halting Duchenne muscular dystrophy

“Duchenne Muscular Dystrophy (DMD) is a genetic disorder that progressively causes muscle degeneration throughout the body, leading to weakness and increasing disability. It is one of the most common forms of muscular dystrophy, with an annual incidence of 1 in 3,500 births worldwide.

Duchenne Muscular Dystrophy (DMD) primarily affects boys due to its X-linked inheritance pattern. Symptoms usually manifest around the age of 3-5 or even earlier. Girls can be carriers of the mutated gene and typically do not develop the disease, although they may experience muscle weakness and fatigue or cardiomyopathy at a later age.

Managing and treating Duchenne Muscular Dystrophy requires regular and multidisciplinary care from experienced healthcare professionals and support staff with various interventions. When a boy is diagnosed with DMD, it is essential to seek medical advice and perform necessary tests on family members who may be carriers or at risk of developing the condition. Physical therapy, combined with orthopedic aids and wheelchairs, orthopedic interventions when necessary, and symptomatic drug therapy, can reduce complications of the disease and improve functionality and quality of life.

Innovative Therapies

Innovative therapies for Duchenne Muscular Dystrophy have been introduced into clinical practice in recent years, with more in experimental stages or on the verge of clinical trials. Most of these therapies aim to increase the amount of dystrophin in muscles. Due to the large size of the dystrophin gene, it is challenging to deliver it to the body using viral vectors. Therefore, researchers focus on producing a smaller dystrophin, either through the replacement of a mini DMD gene (gene replacement), intervention at the mRNA level to prevent premature protein degradation due to specific premature termination mutations (read-through for premature stop codons), or skipping of incompatible exons resulting from deletions or duplications of DNA (exon skipping) to achieve the production of a smaller dystrophin.

In a significant development, the U.S. Food and Drug Administration (FDA) provisionally approved a new gene therapy for DMD patients aged 4-5 (Elevidys) for the first time in an emergency phase last June. It uses an adeno-associated viral (AAV) vector, which, after intravenous administration, transfers an artificial gene for a micro-dystrophin to muscle cells, where it begins to be produced and takes over some of the dystrophin’s functions inside muscle cells. The ongoing EMBARΚ study in 140 children with DMD has shown preliminary production of micro-dystrophin and an improvement in the clinical picture, particularly in this age group of patients. The expected final results of the Phase 3 clinical trial will help confirm and possibly approve the drug.

In addition to this treatment, other gene therapies for DMD are currently being tested. These include various variants of micro-dystrophin or the transfer of other genes that can stabilize muscle cells. New gene editing technologies, precise interventions for repairing genetic defects (such as gene editing CRISPR/Cas9, Prime editing), are also in development in experimental preclinical models of DMD. All of these advancements hold promise for a better prognosis and more effective treatment of the disease in the near future.

Neuromuscular Diseases Center in Cyprus

In our country, the Neuromuscular Diseases Center – the muscular dystrophy clinic of the Cyprus Institute of Neurology and Genetics (CING) has been at the forefront of diagnosing, treating, and providing multidisciplinary care for DMD patients for the past 30 years. The Center deals with the diagnosis and treatment of conditions such as myopathies and muscular dystrophies, motor neuron disease, myasthenia gravis, and peripheral neuropathies. It is supported by unique specialized laboratories in Cyprus, including electromyography, neurology, neurogenetics, biochemistry, and more. The Center implements new and specialized therapies for both local and international patients based on specific protocols and offers comprehensive care. Moreover, the center feeds into pioneering research programs involving clinical and basic research and provides education to medical and paramedical personnel. The Neuromuscular Diseases Center was accepted as an affiliated member of the European Reference Network for Neuromuscular Diseases (ERN-Neuromuscular), based in Paris, which involves top academic institutions from across Europe.

The Center provides comprehensive care for patients with neuromuscular diseases, including a multidisciplinary team consisting of a pulmonologist, orthopedic specialist, cardiologist, endocrinologist, gastroenterologist, dietitian, and speech therapist. It also offers support through genetic counseling, psychological support, and social services. Special emphasis is placed on physical therapy, with highly trained personnel for individual and group therapy to address mobility problems.

The Center has all the means for a complete diagnosis of neuromuscular diseases. The Electromyography Laboratory offers specialized electrophysiological examinations for identifying and characterizing dysfunction in the neuromuscular system. The Neuropathology Laboratory provides specialized diagnostic services concerning muscle and nerve biopsies for accurate diagnosis of neuromuscular diseases like muscular dystrophy, utilizing a wide range of histological and immunocytochemical techniques to evaluate the molecular structure and various metabolic functions of muscles.

Diagnostic Tests

The Department of Neurogenetics at CING closely collaborates with the Neuromuscular Diseases Center, providing a wide range of genetic diagnostic tests for most of the diseases monitored at the Center. The Department offers genetic DNA testing for patients, studies in families, and the possibility of next-generation sequencing for diagnostic and research purposes. The Biochemical Genetics Department at CING provides specialized laboratory tests on blood and muscle samples for the diagnosis of metabolic and other diseases. Additionally, the Thalassemia Department at CING offers pre-implantation diagnosis services for families with neuromuscular diseases.

Clinical trials for the treatment of Neuromuscular Diseases are conducted at the Center, as well as translational and basic research focusing on the diagnosis and treatment of neuromuscular diseases. Currently, there are four clinical trials underway for new therapeutic drugs for hereditary amyloid polyneuropathy (FAP) and autoimmune myositis.

Dr. Kleopas A. Kleopa is a Senior Neurologist, Director of the Department of Neurosciences, and Coordinator of the Neuromuscular Diseases Center at the Cyprus Institute of Neurology (CING).

Source: Φilenews