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Early detection, intervention vital for identifying, destigmatizing autism spectrum disorder

Autism spectrum disorder is one of the more common childhood disorders, with the World Health Organization estimating that, globally, 1 in 160 children has autism spectrum disorder.

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Early detection and intervention for children with autism spectrum disorder could help millions worldwide gain greater developmentally appropriate skills, enhance independence, and harness their unique abilities, says an expert at Cleveland Clinic Children’s, marking World Autism Awareness Day on Friday, 2 April.

Cynthia Johnson, PhD, Director of Cleveland Clinic Children’s Center for Autism, said: “Early detection and early intervention leads to better outcomes. Increased awareness destigmatizes the diagnosis of autism spectrum disorder. While every parent views their child as a perfect gift, we want to tell them that identifying and treating autism spectrum disorder is not changing their child, but rather helping them to adapt and to capitalize on their unique abilities.”

Autism spectrum disorder is one of the more common childhood disorders, with the World Health Organization estimating that, globally, 1 in 160 children has autism spectrum disorder.

Autism spectrum disorder has two key components: lack of or weakness in social and social communication abilities, and presence of restrictive or repetitive behaviors, with identification possible as early as in the first year of life. While there is no one known medical cause for autism, research suggests a mix of many genetic and environmental factors are risks, such as older parents, premature birth, and environmental pollutants. Diagnosis can come from interviews with parents and teachers, along with specialized developmental tests.

“Parents with toddlers and preschool-aged children should be on the lookout for delayed speech and unusual communication development,” said Dr. Johnson. “Possible symptoms can include repetitive speech or phrases, lack of imitation of other people’s actions and emotions, atypical, repetitive and restricted play, engaging in repetitive motor movement such as hand flapping or finger flicking, or oversensitivity to sound. The earlier that we can identify autism spectrum disorder, the faster we can address these patients’ differences and hopefully offset a cascade of disruptions in early development.”

People with autism spectrum disorder are more likely to have seizures, epilepsy, gastrointestinal and nutritional issues, sleep disturbances, and anxiety.

Professionals focus treatment on one-on-one behavior therapy, and training parents on enhancing their children’s social skills. Technology solutions are also seeing increasing uptake among patients, according to Dr. Johnson. For example, children with autism spectrum disorder can use tablet devices with special speech software to better develop their multiple-word communication and vocabulary. As many people with autism spectrum disorder may be uncomfortable around people, they may be more comfortable to learn social skills from humanoid robotics that have fun and simplified expressions.

Medications are often used to treat disruptive behaviors and attention weakness and hyperactivity.

Dr. Johnson concluded: “Many people with autism spectrum disorder do want to be social and be part of their social community, they may just need to develop age-appropriate social skills and reduce interfering restricted behaviors. Medical treatment and applied behavior analysis can help patients become more independent. Many people with autism spectrum disorder are among the brightest people I’ve ever met. They have the ability to contribute to society in different ways because of their attention to detail, laser focus, mastery of fields, and thinking outside of the box.”

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Gene therapy has potential to cure thalassemia patients from blood disorder

Thalassemia is a blood disorder that affects the body’s ability to produce red blood cells, and hemoglobin, the protein that carries oxygen in red blood cells. Even with blood transfusion and appropriate iron chelation therapy; patients can develop iron overload, with potential to damage the liver, heart, and endocrine system.

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Gene therapy could pave the way for patients with the inherited blood disorder thalassemia to stop or significantly reduce blood transfusions and transform their daily lives, says an expert at a top American hospital, Cleveland Clinic.

Dr. Rabi Hanna, a pediatric hematologist-oncologist, said: “Thalassemia is a disease that can be cured, with gene therapy as a novel step that uses the patients’ own hematopoietic stem cells to produce healthier red blood cells and fix their blood disorder. Thalassemia patients who have received gene therapy have either eliminated or significantly reduced the amount of blood transfusions needed to manage their condition. With gene therapy, we can remove the challenges that thalassemia patients face to give them the courage to pursue their goals and dreams, whether in education, careers, or families.”

Thalassemia is a blood disorder that affects the body’s ability to produce red blood cells, and hemoglobin, the protein that carries oxygen in red blood cells. Even with blood transfusion and appropriate iron chelation therapy; patients can develop iron overload, with potential to damage the liver, heart, and endocrine system.

There are two type of thalassemia, alpha and beta, depending on the defects that can occur in the protein chains that make up hemoglobin. Patients with alpha thalassemia tend to be silent carriers without symptoms, while patients with beta thalassemia major will have major symptoms early after birth and require frequent red blood transfusions. Moderate and severe thalassemia cases are usually diagnosed with early childhood blood tests. Married couples can also have genetic tests that can predict the risk of thalassemia and related blood disorders.

Worldwide, there are 270 million carriers with abnormal hemoglobin and thalassemia, with 300,000-400,000 babies born with serious hemoglobin disorders annually, according to the US National Institute of Health. It is estimated that 90 percent of those births are in low- or middle-income countries, especially in the Middle East, South and Southeast Asia, the Mediterranean, Africa, and the South Pacific. Recognizing this, International Thalassemia Day’s theme for 2021 is “Addressing Health Inequalities Across the Global Thalassemia Community.”

In contrast to time-consuming, life-long blood transfusions, gene therapy could be a one-time therapy and provide a potential cure. Despite that, the allogeneic bone marrow transplant is currently the only available option with the potential to correct the genetic deficiency in Transfusion-dependent Thalassemia (TDT), but it has possible complications such as graft failure, graft-versus-host disease (GvHD), and opportunistic infections, particularly in patients who undergo non-sibling matched allogeneic HSCT. Gene therapy, in contrast, uses the patient’s own cells and eliminates the risk of GVHD.

The challenge in Dr. Hann’s opinion is how we can make this therapy available worldwide, especially in developing countries, where most of the patients are, globally.

The European Medicines Agency has given conditional marketing authorization to one form of genetically modified products for beta-thalassemia. In the United States, there are currently clinical trials for gene therapy, and this therapy is under review by Food and Drug Administration – which experts hope could lead to authorization later in 2021.

In recent phase 1-2 studies of gene therapy for 22 patients, all of them had reduced or eliminated the need for long-term red blood cell transfusions. Of the 13 alpha-thalassemia patients, 12 stopped receiving red blood cell transfusions. For the nine beta-thalassemia patients, three stopped red blood cell transfusions, and the remaining six patients saw their median annualized transfusion volume decrease by 73 percent.

“While gene therapy is a promising cure for transfusion-dependent thalassemia, many patients do not know the whole process – including chemotherapy to get rid of the old bone marrow and create space for the new modified stem cells. This will currently require admission to hospital for four to 6 weeks until new the stem cells are working and able to produce white blood cells, platelets and healthier red blood cells,” added Dr. Hanna. “We are hopeful that in the future we can target the bone marrow more selectively using reduced intensity chemotherapy or other medication to avoid the acute and long-term toxicity associated with high doses of chemotherapy.”

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Asthma both under-diagnosed and misdiagnosed

Proper medical diagnosis of asthma could mean that about one-third of people assumed to suffer from the disease could be weaned off long-term medications, impacting millions of people worldwide, says an expert at a top American hospital, Cleveland Clinic.

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Proper medical diagnosis of asthma could mean that about one-third of people assumed to suffer from the disease could be weaned off long-term medications, impacting millions of people worldwide, says an expert at a top American hospital, Cleveland Clinic.

Dr. Joe Zein, who specializes in pulmonary medicine at Cleveland Clinic, said: “Asthma impacts millions of people, and proper diagnoses and treatment are vital to treat asthma early before any damage occurs to the airway. Studies show that one-third of patients thought to have asthma are misdiagnosed by doctors, and 15% of asthma patients taking medication long term do not have an objective diagnosis. Proper diagnosis can ensure that patients receive the right treatment, reduce triggers, and lead healthier lives.”

A study in the Journal of American Medicine (JAMA) found that 33% of randomly tested asthma patients could be safely weaned off their medications, and did not need long-term inhaled steroids.

Asthma is one of the world’s major chronic diseases, impacting more than 339 million people globally, and the most common, non-communicable disease among children, according to the World Health Organization. At the same time, studies have found that asthma is under-diagnosed and under-treated.

Commenting on World Asthma Day 2021’s theme of “Uncovering Asthma Misconceptions,” Dr. Zein emphasized that while some people assume otherwise, asthma tests are often quick and easy. Common diagnostic methods include a spirometry test that measures the airflow through the lungs, and a methacholine challenge test that evaluates how reactive lungs are to changes in the environment. Healthcare practitioners may also request chest x-rays, and blood, skin, or allergy tests.

Asthma patients can suffer from chest tightness, pain, or pressure; coughing; and shortness of breath or wheezing. An asthma attack restricts airflow due to tightened and inflamed airways, and mucus clogs.

Treatment can include anti-inflammatory medicines that make it easier for air to enter and exit the lungs, bronchodilators that relax the airway muscles, or biologic therapies that target specific molecules.

Asthma, which has both genetic and environmental causes, has a wide range of triggers – especially in people’s own homes and neighborhoods. The most common asthma triggers are dust mites, pet dander, pollen and ragweed, pests such as cockroaches and mice, and mold. Tobacco smoke from the patient themselves or from secondhand smoke, air pollution, and exercise can also all trigger asthma attacks.

“People with asthma may not want to get rid of their pets, especially cats or dogs,” added Dr. Zein. “If asthma patients have to keep their pets in the house, they should keep pets outside of the bedroom, and replace any thick carpets with tile or hardwood to reduce pet dander. Asthma patients should also wash their bedding with hot water, vacuum often to remove dust, and put in de-humidifiers in any damp areas of the house.”

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Does listening to calming music at bedtime actually help you sleep?

Listening to calming music at bedtime improved sleep quality in older adults, and calming music was much better at improving sleep quality than rhythmic music.

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A new study published in the Journal of the American Geriatrics Society has found that listening to music can help older adults sleep better.

Researchers from the National Cheng Kung University Hospital in Taiwan combined the results of past studies to understand the effect that listening to music can have on the quality of older adults’ sleep. Their work suggests that:

  • Older adults (ages 60 and up) living at home sleep better when they listen to music for 30 minutes to one hour at bedtime.
  • Calm music improves older adults’ sleep quality better than rhythmic music does.
  • Older adults should listen to music for more than four weeks to see the most benefit from listening to music.

Why Older Adults Have Trouble Getting a Good Night’s Sleep

As we age, our sleep cycles change and make a good night’s sleep harder to achieve. What does it really mean to get a good night’s sleep? If you wake up rested and ready to start your day, you probably slept deeply the night before. But if you’re tired during the day, need coffee to keep you going, or wake up several times during the night, you may not be getting the deep sleep you need. According to the National Institute on Aging, older adults need seven to nine hours of sleep each night.

But studies have shown that 40 to 70 percent of older adults have sleep problems and over 40 percent have insomnia, meaning they wake up often during the night or too early in the morning. Sleep problems can make you feel irritable and depressed, can cause memory problems, and can even lead to falls or accidents.

How the Researchers Studied the Effect of Music on Older Adults’ Quality of Sleep

For their study, the researchers searched for past studies that tested the effect of listening to music on older adults with sleep problems who live at home. They looked at five studies with 288 participants. Half of these people listened to music; the other half got the usual or no treatment for their sleep problems. People who were treated with music listened to either calming or rhythmic music for 30 minutes to one hour, over a period ranging from two days to three months. (Calming music has slow tempo of 60 to 80 beats per minute and a smooth melody, while rhythmic music is faster and louder.) All participants answered questions about how well they thought they were sleeping. Each participant ended up with a score between 0 and 21 for the quality of their sleep.

The researchers looked at the difference in average scores for:

  • people who listened to music compared to people who did not listen to music;
  • people who listened to calm music compared to people who listened to rhythmic music;
  • and people who listened to music for less than four weeks compared to people who listened to music for more than four weeks.

What the Researchers Learned

Listening to calming music at bedtime improved sleep quality in older adults, and calming music was much better at improving sleep quality than rhythmic music. The researchers said that calming music may improve sleep by slowing your heart rate and breathing, and lowering your blood pressure. This, in turn helps lower your levels of stress and anxiety.

Researchers also learned that listening to music for longer than four weeks is better at improving sleep quality than listening to music for a shorter length of time.

What this Study Means for You

If you’re having trouble sleeping, listening to music can be a safe, effective, and easy way to help you fall and stay asleep. It may also reduce your need for medication to help you sleep.

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