Category: Paediatrics

Categories : ENT PaediatricsTags :

Earbuds and Headphone Exposure Creating Noise Health Risks for Children

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Photo by Emily Wade on Unsplash

While it’s not surprising to spot teens wearing headphones and earbuds, it’s also becoming a widespread trend among younger children, a national poll suggests. Two in three parents say their child ages five to 12 uses personal audio devices, with half of parents of children ages five to eight reporting elementary-aged kids use a device.

Among parents whose children use headphones and earbuds, half say kids spend at least an hour a day using them. One in six say their child typically uses them for at least two hours, according to University of Michigan’s C.S. Mott Children’s Hospital National Poll on Children’s Health.

“Over recent years we’ve mostly been concerned about teens overusing audio devices. But earbuds have become increasingly popular and prevalent among younger kids, exposing them to more intense noise on a regular basis,” said Susan Woolford, MD, MPH, Mott paediatrician and co-director of the poll.

“Noise exposure risks to young children have historically involved loud singular events like concerts or fireworks, but parents may underestimate the potential harm from excessive use of listening devices. It may be difficult to know whether their child’s exposure to noise is healthy.”

Children are most likely to use these devices at home, school and in the car, report findings show. About a fourth of parents also say children occasionally use audio devices on airplanes while less than 10% say kids use them on the bus, outside or in bed.

Half of parents agree that headphones or earbuds help keep their child entertained.

The American Academy of Pediatrics released a statement in 2023 on the need to reduce noise risks to children, with increasing evidence that children and teens may be more exposed through personal listening devices.

Prolonged or extreme exposure to high volumes of noise can result in long term health issues, including hearing loss or tinnitus, Woolford says.

“Young children are more vulnerable to potential harm from noise exposure because their auditory systems are still developing. Their ear canals are also smaller than adults, intensifying perceived sound levels,” Woolford said.

Noise exposure among children can also affect their sleep, academic learning, language, stress levels and even blood pressure, she adds.

More parents of children aged 9–12 years than 5–8 years report their child uses headphones or earbuds and daily use was also more likely to be higher among the older age group, the poll suggests.

But only half of parents share they’ve tried to limit their child’s audio device usage, citing strategies such as asking the child to take a break, having set hours for use and using a timer.

Parents whose child uses headphones for more than two hours a day are also less likely to set time or volume limits, compared to parents who report less headphone use for their child.

Woolford offers four tips to reduce risks of noise exposure to children through headphones and earbuds:

Monitor volume levels

Parents can minimise the negative impact of audio device usage by monitoring and adjusting the child’s volume and time on devices, Woolford says. She recommends parents follow the 60/60 rule – children should be limited to no more than 60 minutes of audio devices a day at no more than 60% of the maximum volume.

The sound level on listening devices that are less than 70 dBA (relative loudness of decibels heard) are very unlikely to cause noise-related damage.

“A good way to tell if an audio device is too loud is if a child wearing headphones can’t hear you when you’re an arm’s length away,” she said.

Parents can also limit their child’s risk by setting specific hours for audio device use or using a timer to keep track.

Use noise cancelling or volume limiting headphones

Parents should consider the risk of noise exposure when purchasing audio devices for their child by checking the information on device packages to identify products that limit the volume.

But some products marketed as “kid safe,” Woolford warns, do not limit the volume to 70 decibels.

However, children should avoid using noise-cancelling listening devices in situations when perception of sounds is crucial for safety.

“Noise-cancelling devices may help prevent children from increasing the volume to levels that are too high,” Woolford said. “But these devices shouldn’t be used when a child is engaged in activities where it’s important to hear their surroundings for their safety, such as walking or bike riding.”

Ensure kids take breaks from personal listening devices

Parents should help children intentionally have daily ‘device-free’ time, Woolford says. This may involve putting away or locking the child’s audio devices when time limits are up.

They may also encourage kids to enjoy things like music on a low volume in their rooms instead of using earbuds to reduce noise intensity.

Personal audio devices should also be avoided when children are sleeping or at bedtime, Woolford says.

Be mindful of early signs of hearing loss

If parents feel their child may be at risk of hearing loss due to using audio devices, Woolford recommends checking with a paediatrician, an audiologist, or an ENT specialist.

“Early signs of hearing loss may include asking for repetition, hearing ringing noises often, speaking loudly to people nearby, delayed speech, or lack of reaction to loud noises,” Woolford says.

“Healthcare providers may be of assistance to parents by offering a simple explanation about hearing loss to help the child understand the reasons for limiting their use of audio devices.”

Source: Michigan Medicine – University of Michigan

Categories : Paediatrics VaccinesTags :

Children’s Birthdays Reveal the Best Month to Give Flu Shots

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Photo by Andrea Piacquadio on Unsplash

In the northern hemisphere, children born in October are most likely to be vaccinated for the flu in October – and are least likely to be diagnosed with influenza, according to results of the first large-scale study of optimal timing for the flu shot.

The study, by researchers from the Department of Health Care Policy in the Blavatnik Institute at Harvard Medical School, amplifies public health guidance that encourages getting flu vaccinations in October for those in the northern hemisphere. The findings appear in the BMJ.

“There are a lot of variables when it comes to the timing and severity of flu season or a person’s risk of getting sick, and many of those are out of our control,” said Anupam Jena, the Joseph P. Newhouse Professor of Health Care Policy at HMS, physician at Massachusetts General Hospital, and senior author of the study. Christopher Worsham, HMS assistant professor of medicine and critical care physician at Mass General, led the study.

“One thing we have some control over is the timing of the shot,” Jena said, “and it looks like October is indeed the best month for kids to get vaccinated against the flu.”

In January the U.S. Centers for Disease Control and Prevention reported at least 150,000 hospitalizations and 9,400 deaths due to flu as of the time of the report and noted that high demand for hospital care for influenza has contributed to strained hospital capacity in some parts of the country. Over the past decade in the U.S., between one and 199 children have died of influenza each flu season. Across the years, most children who die are not fully vaccinated against the flu.

Part of the reason the timing of the shot is tricky is the way the immune system responds to a vaccine. If a person gets the shot too early, their immunity may fade by the time flu season peaks. If they wait too long, their body may not have time to build immunity strong enough to protect against the peak level of infections.

How soon is too soon, and how late is too late?

While public health recommendations in the U.S. have long promoted September and October flu shots, there has never been a randomised clinical trial to test the best timing, nor a large-scale effort to see how likely people who get vaccinated in other months are to get sick, Jena said.

When Jena was at a late summer meeting in 2022, he mentioned that his arm was sore from getting his flu shot. A colleague asked whether he was concerned about his immunity waning before flu season.

“It hadn’t occurred to me to check if one month or the other might make a big difference,” Jena said. “When we looked at the science, we were surprised that no one had ever looked at the question in a big population.”

Organising a clinical trial would require a lot of time and resources to coordinate the random distribution of flu jabs across hundreds or thousands of people.

But Jena, Worsham, and study co-author Charles Bray, HMS research assistant in health care policy, had a good idea where they could find an already randomized study population.

The surprising link between birth dates and childhood flu vaccination

In prior research reported in the New England Journal of Medicine in 2020, Jena and Worsham documented the way birth month determines how likely it is that children get the flu shot at all.

Young children in the U.S. tend to get their yearly checkup around their birthday, and it’s also when they get most of their vaccines. Children with spring and summer birthdays often don’t get the flu shot because it’s not available when they go for their annual visit, and many parents don’t make an extra trip for it.

The NEJM research was meant to highlight the importance of promoting the flu vaccine in the fall for children with birthday months that make it less likely that they will get the vaccine. Jena and Worsham realized they could also leverage this quirk of health care to study a ready-made distribution of children who get checkups – and flu shots – across all the months when the vaccine is commonly available.

Randomised by birthday

Studying children who got a flu shot in their birth month minimised certain factors related to the risk of infection that would have made it harder to measure the true impact of the timing of the shot.

For instance, families who proactively sought out shots in a non-birthday month might have done so because the child had a higher risk of catching the flu or because family members were more cautious and more likely to take actions that would protect them from the flu, such as handwashing and disinfecting.

For the BMJ study, Jena, Worsham, and Bray analysed the anonymised commercial health insurance records of more than 800 000 children in the U.S. from 2 to 5 years old who received influenza vaccines from 2011 to 2018.

The analysis showed that children born in October had the lowest rate of influenza diagnosis. For example, 2.7% of children born and vaccinated in October were diagnosed with the flu that season, compared to 3% of those born and vaccinated in August or January, 2.9% of those born and vaccinated in September or December, and 2.8% of those born and vaccinated in November.

The findings suggest that U.S. public health interventions focused on vaccination of young children in October may yield the best protection in typical flu seasons, the authors said.

“This study can help people pinpoint the best time to get flu vaccines for their children – especially the ones who weren’t born in October,” Worsham said.

“We’ve had several rough winters in a row for respiratory viruses, between COVID-19, RSV, and the flu,” Worsham said. “We need all the help we can get to keep people safe from these diseases.”

Source: Harvard Medical School

Categories : PaediatricsTags :

Medicinal Plants Help Keep Children Healthy in South Africa: 61 Species were Recorded

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The common yellow commelina, one of the popular plants used to treat children. Photo by Bernard DUPONT via Wikimedia Commons. CC2.0

In 2021, almost 33 of every 1 000 South African children under five years old died.

This under-five mortality rate is far worse than in similar middle-income countries such as Brazil (14.4 per 1000 births), Cuba (5 per 1000), India (30.6), Indonesia (22.2) and Egypt (19.0).

South Africa’s under-five mortality rate also lags behind the UN’s Sustainable Development Goal of reducing these figures worldwide by 2030 to 25 deaths per 1000.

Significant progress has been made. In 1994, South Africa’s under-five mortality rate was 60.4 per 1000. The government’s Expanded Programme on Immunisation was one health intervention that made a difference.

However, inequalities persist. The underfunded public health sector has been stretched to serve 71% of the population.

Worldwide, many people, particularly those in rural settlements, depend on medicinal plants for their health. In August 2023, the World Health Organization held the first global summit on traditional medicine, in India.

As researchers with an interest in indigenous knowledge, we explored the use of medicinal plants as remedies against diseases among children in the North West province of South Africa.

Of the province’s population, 49.2% live below the poverty line with no access to proper housing, water and sanitation. These conditions have an impact on children’s health.

Despite the high reliance on traditional medicine by rural populations, the role of medicinal plants for the treatment of childhood diseases remains speculative and lacks systematic documentation.

Our study yielded the first comprehensive inventory of medicinal plants and indigenous knowledge related to children’s healthcare in the area.

In total, 61 plants from 34 families were recorded as medicine used for managing seven categories of diseases. Skin-related and gastro-intestinal diseases were the most prevalent childhood health conditions encountered by the study participants.

Capturing local wisdom

Evidence shows traditional health practitioners continue to play an important role in managing childhood illness in sub-Saharan Africa.

South Africa is endowed with a rich wealth of flora and is often acclaimed as a biodiversity hotspot. Thousands of plants are used for traditional medicine for the management of diverse health conditions.

In the North West, we interviewed 101 participants, including traditional health practitioners, specifically those with expertise in managing and treating diseases among children, and herbal vendors operating in the selected study areas.

Gender distribution among the participants was 78% female and 21% male. This signifies the importance of women as active custodians of indigenous knowledge related to childhood health needs.

Of the participants, 63% had completed a secondary level of education, 21.8% had no formal education and 5% had attended primary school. Although 79% of the participants lived in villages, 15.8% were based in urban areas.

The participants were asked which plants they used to treat children. Of the 61 plants identified, 89% were recorded for the first time as botanicals used for childhood-related diseases by traditional health practitioners.

Carpet plant (Geranium incanum), common yellow commelina (Commelina africana) and elephant’s root (Elephantorrhiza elephantina) were the most popular medicinal plants.

Carpet plant was used as a treatment for diverse health problems such as umbilical cord conditions, muscle fits, measles, weight loss and appetite loss.

Common yellow commelina was used as a remedy to treat skin conditions, while elephant’s root was used to treat gastrointestinal and skin diseases.

Roots and rhizomes were the parts most frequently used as treatments (40%), followed by leaves (23%) and whole plants (20%).

Boiling plants or softening them in liquid were the main preparation methods. The plant remedies were mainly administered orally (60%) and used on the skin (39%).

The study also confirmed there are similarities in indigenous practices, techniques and plant matter for specific conditions that were previously reported in other provinces: KwaZulu-Natal and the Eastern Cape.

The way forward

There is increasing support from governments for promoting traditional medicine as part of primary healthcare in African countries such as Cameroon and South Africa.

We recommend that:

  1. Government provide institutional and financial support to determine the role of herbal medicine in primary healthcare. Working with traditional health practitioners, medicinal plants must be documented and testing laboratories need to be set up to establish their efficacy and to determine appropriate dosages.
  2. Botanical gardens should be created to ensure the sustainability of plants and their continued role in providing much-needed medical care. In the North West province, 40% of the ecosystems are under severe stress, with 11 of the 61 vegetation and 14 of the 18 river types classified as threatened. Medicinal plants are mostly harvested from the wild, so it’s possible that many could face extinction from uncontrolled harvesting.

Authors

This article is republished from The Conversation under a Creative Commons license. Read the original article.

Categories : PaediatricsTags :

Oral Rehydration Salts for Children Underprescribed Despite Effectiveness

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Photo by Ron Lach : https://www.pexels.com/photo/mother-taking-care-of-sick-daughter-9874630/

Health care providers in developing countries know that oral rehydration salts (ORS) are a lifesaving and inexpensive treatment for diarrhoeal disease, a leading cause of death for children worldwide – yet few prescribe it.

A new study published in Science suggests that closing the knowledge gap between what treatments health care providers think patients want and what treatments patients really want could help save half a million lives a year and reduce unnecessary use of antibiotics.

“Even when children seek care from a health care provider for their diarrhoea, as most do, they often do not receive ORS, which costs only a few cents and has been recommended by the World Health Organization for decades,” said Neeraj Sood, senior author of the study, senior fellow at the USC Schaeffer Center for Health Policy & Economics and a professor at the USC Price School of Public Policy.

“This issue has puzzled experts for decades, and we wanted to get to the bottom of it,” said Sood.

A closer look at childhood illness in India

There are several popular explanations for the underprescription of ORS in India, which accounts for the most cases of child diarrhoea of any country in the world:

  • Physicians assume their patients do not want oral rehydration salts, which come in a small packet and dissolve in water, because they taste bad or they aren’t “real” medicine like antibiotics.
  • The salts are out of stock because they aren’t as profitable as other treatments.
  • Physicians make more money prescribing antibiotics, even though they are ineffective against viral diarrhea.

To test these three hypotheses, Sood and his colleagues enrolled over 2000 health care providers across 253 medium-size towns in the Indian states of Karnataka and Bihar. The researchers selected states with vastly different socioeconomic demographics and varied access to health care to ensure the results were representative of a broad population. Bihar is one of the poorest states in India with below-average ORS use, while Karnataka has above-average per capita income and above-average ORS use.

The researchers then hired staff who were trained to act as patients or caretakers. These “standardized patients” were given scripts to use in unannounced visits to doctors’ offices where they would present a case of viral diarrhea — for which antibiotics are not appropriate — in their 2-year-old child. (For ethical considerations, children did not attend these visits.) The standardized patients made approximately 2,000 visits in total.

Providers were randomly assigned to patient visits where patients expressed a preference for ORS, a preference for antibiotics or no treatment preference. During the visits, patients indicated their preference by showing the health care provider a photo of an ORS packet or antibiotics. The set of patients with no treatment preference simply asked the physician for a recommendation.

To control for profit-motivated prescribing, some of the standardized patients assigned as having no treatment preference informed the provider that they would purchase medicine elsewhere. Additionally, to estimate the effect of stockouts, the researchers randomly assigned all providers in half of the 253 towns to receive a six-week supply of ORS.

Provider misperceptions matter most when it comes to ORS underprescribing

Researchers found that provider perceptions of patient preferences are the biggest barrier to ORS prescribing – not because caretakers do not want ORS, but rather because providers assume most patients do not want the treatment. Health care providers’ perception that patients do not want ORS accounted for roughly 42% of underprescribing, while stockouts and financial incentives explained only 6% and 5%, respectively.

Patients expressing a preference for ORS increased prescribing of the treatment by 27 percentage points — a more effective intervention than eliminating stockouts (which increased ORS prescribing by 7 percentage points) or removing financial incentives (which only increased ORS prescribing at pharmacies).

“Despite decades of widespread knowledge that ORS is a lifesaving intervention that can save lives of children suffering from diarrhea, the rates of ORS use remain stubbornly low in many countries such as India,” said Manoj Mohanan, co-author of the study and professor of public policy, economics, and global health at the Sanford School of Public Policy at Duke University. “Changing provider behavior about ORS prescription remains a huge challenge.”

Study authors said these results can be used to design interventions that encourage patients and caretakers to express an ORS preference when seeking care, as well as efforts to raise awareness among providers about patients’ preferences.

“We need to find ways to change providers’ perceptions of patient preferences to increase ORS use and combat antibiotic resistance, which is a huge problem globally,” said Zachary Wagner, the study’s corresponding author, an economist at RAND Corporation and professor of policy analysis at Pardee RAND Graduate School. “How to reduce overprescribing of antibiotics and address antimicrobial resistance is a major global health question, and our study shows that changing provider perceptions of patient preferences is one way to work toward a solution.”

Source: University of Southern California

Categories : Cancer PaediatricsTags :

Conquering Childhood Leukaemia: How You can Help

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Preshthi Ishwarlal

Receiving the news that their child has been diagnosed with cancer is devastating for any parent, but this is even worse when they hear that, after 18 months of remission, their little one will need to battle the disease all over again.

This was the case for mom of two Arthie Ishwarlal. Back in 2021, her then two-year-old daughter, Preshthi, was diagnosed with Acute Lymphoblastic Leukaemia (ALL), a type of blood cancer that affects the bone marrow, white blood cells, red blood cells, and blood platelets. But, despite undergoing inpatient treatment, Preshthi experienced a relapse earlier this year with doctors saying that her only chance for survival is a stem cell transplant from a matching donor. Unfortunately, however, there is no match for her on the country’s stem cell registry at present.

As the world observes International Childhood Cancer Day (ICCD) on 15February, Palesa Mokomele, Head of Community Engagement and Communications at DKMS Africa explains that South Africans can potentially save Preshthi’s life. While there are currently over 73 000 donors on the South African registry, each only has a 1 in 100 000 chance of being a match for a blood cancer patient in need. But exacerbating the situation for little Preshthi is the lack of Indian donors since the best chance of a match comes from within one’s own ethnic group.”

She adds that it is not just Preshthi who needs a stem cell transplant for a second chance at life. “This is often the only treatment offering children with other blood cancers, like lymphomas, any hope of a cure.”

With leukaemia and lymphomas being two of the five most common cancers among South Africa’s youth, with the former accounting for 34% of childhood cancer cases and the latter 11%, Mokomele urges South Africans aged between 17 and 55 who are in good general health to register as donors. “In doing so, you might save a child’s life.”

Register at https://www.dkms-africa.org/register-now. Registration is entirely free and takes less than five minutes.

For further information, get in touch with DKMS Africa at 0800 12 10 82.

Categories : Neurology PaediatricsTags :

fMRI in World’s Largest Childhood Trauma Study Reveals Brain Rewiring

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Photo by Caleb Woods on Unsplash

The world’s largest brain study of childhood trauma has revealed how it affects development and rewires vital pathways. The University of Essex study, published in Biological Psychiatry Cognitive Neuroscience and Neuroimaging, uncovered a disruption in neural networks involved in self-focus and problem-solving.

This means under-18s who experienced abuse will likely struggle with emotions, empathy and understanding their bodies. Difficulties in school caused by memory, hard mental tasks and decision making may also emerge.

The cutting-edge research, led by the Department of Psychology’s Dr Megan Klabunde, used AI to re-examine hundreds of brain scans and identify patterns. It is hoped the research will help hone new treatments for children who have endured mistreatment. This could mean therapists focus on techniques that rewire these centres and rebuild their sense of self.

Dr Klabunde said: “Currently, science-based treatments for childhood trauma primarily focus on addressing the fearful thoughts and avoidance of trauma triggers.

“This is a very important part of trauma treatment. However, our study has revealed that we are only treating one part of the problem.

“Even when a child who has experienced trauma is not thinking about their traumatic experiences, their brains are struggling to process their sensations within their bodies.

“This influences how one thinks and feels about one’s ‘internal world’ and this also influences one’s ability to empathise and form relationships.”

Dr Klabunde reviewed 14 studies involving more than 580 children for the research. The paper re-examined functional magnetic resonance imaging (fMRI) scans. This procedure highlights blood flow in different centres, showing neurological activity.

The study discovered a marked difference in traumatised children’s default mode (DMN) and central executive networks (CEN) – two large scale brain systems.

The DMN and the posterior insula are involved in how people sense their body, the sense of self and their internal reflections.

New studies are finding the DMN plays an important role in most mental health problems — and may be influenced by experiencing childhood trauma.

The CEN is also more active than in healthy children, which means that children with trauma histories tend to ruminate and relive terrible experiences when triggered.

Dr Klabunde hopes this study will be a springboard to find out more about how trauma affects developing minds.

She said: “Our brain findings indicate that childhood trauma treatments appear to be missing an important piece of the puzzle.

“In addition to preventing avoidance of scary situations and addressing one’s thoughts, trauma therapies in children should also address how trauma’s impacts on one’s body, sense of self, emotional/empathetic processing, and relationships.

“This is important to do so since untreated symptoms will likely contribute to other health and mental health problems throughout the lifespan.”

Dr Klabunde worked with Dr Anna Hughes, also from the Department of Psychology, and Masters student Rebecca Ireton on the study.

Source: University of Essex

Categories : Diseases, Syndromes and Conditions PaediatricsTags :

Rickets in the Industrial Revolution Driven by Low Vitamin D

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Photo by Mayur Gala on Unsplash

Rickets ran rife in children following the Industrial Revolution, but University of Otago-led research has found factory work and polluted cities aren’t entirely to blame for the period’s vitamin D deficiencies.

In a study published in PLOS One, researchers sampled teeth from a cemetery site in industrial era England, looking for microscopic markers of nutritional disease.

Lead author Dr Annie Sohler-Snoddy, Research Fellow in Otago’s Department of Anatomy, says they uncovered some of the first clear evidence of seasonal vitamin D deficiency in an archaeological sample.

She says it has been known for many years that there was an increase in rickets, a childhood bone disease caused by vitamin D deficiency, in 18th and 19th Century Europe.

“It has been assumed that this was due to more people, including children, working long hours indoors, living in crowded housing and in smog-filled environments, all of which reduce the amount of sunlight that reaches a person’s skin, which is the main way humans make vitamin D.”

However, new bioarchaeological methods enabled the researchers to get a much clearer picture of how vitamin D deficiency affected the people living in industrial England, rather than looking at bone deformities alone.

The study, from Otago, Durham University, University of Edinburgh, University of Brighton, and University of Queensland, found markers associated with vitamin D deficiency in the interior part of 76% of the teeth analysed.

In many samples, these occurred regularly, in annual increments.

“This shows clear evidence of seasonal vitamin D deficiency in the teeth of people living in the north of England.

“This is exciting because it highlights that latitude and seasonal lack of sunlight was a major factor in the amount of vitamin D these people could make in their skin – it’s more complicated than the factors associated with the industrial revolution like working indoors more,” Dr Sohler-Snoddy explains.

Poor vitamin D status is associated with several negative health outcomes including increased risk for infectious diseases, cardiovascular disease, and cancers.

Vitamin D deficiency has been an ongoing problem in society and Dr Sohler-Snoddy believes it is important to study what happened in the past in order to inform modern approaches to the ailment.

“We tend to think of archaeological human remains as belonging to a different world, but our biology hasn’t changed in the last 200 years.

“Teeth provide a really important source of information for archaeologists as they form in a very precise chronology and, importantly, their tissues do not change over the lifespan. This means that they lock in a record of a person’s development and this stays with them until they die, or the tooth is lost.

“Understanding how vitamin D deficiency impacted past populations and why gives us an important deep-time perspective on the disease,” she says.

Source: University of Otago

Categories : Genetics PaediatricsTags :

Gene Identified for Rare Disorder Involving Extra Fingers and Toes

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Photo by Jonathan Borba on Unsplash

A rare disorder which causes babies to be born with extra fingers and toes and a range of birth defects has been identified in new research published in the American Journal of Human Genetics. The disorder, which has not yet been named, is caused by a genetic mutation in a gene called MAX.

As well as extra digits – polydactyly — it leads to a range of symptoms relating to ongoing brain growth, such as autism. The research marks the first time this genetic link has been identified. It has also found a molecule that could potentially be used to treat some of the neurological symptoms and prevent any worsening of their condition. However, more research is needed to test this molecule before it can be used as a treatment.

Co-led by the University of Leeds, the study focuses on three individuals with a rare combination of physical traits, namely polydactyly, and a much larger than average head circumference – known as macrocephaly.

The individuals share some other characteristics, including delayed development of their eyes which results in problems with their vision early in life.

The researchers compared the DNA of these individuals and found they all carried the shared genetic mutation causing their birth defects.

The latest research was co-led by Dr James Poulter from the University of Leeds; Dr Pierre Lavigne at Université de Sherbrooke in Québec and Professor Helen Firth at Cambridge University.

As with many rare disorders, the disorder currently has no treatments – but in this case, the researchers identified one already undergoing clinical trials which might reverse some of the mutation’s effects.

The study team has highlighted the importance of interdisciplinary research into rare diseases in giving understanding and hope of a treatment to families who often face many years of uncertainty about their child’s condition and prognosis.

The researchers now plan to look for additional patients with mutations in MAX to better understand the disorder and investigate whether the potential treatment improves the symptoms caused by the mutation.

Source: University of Leeds

Categories : Paediatrics Respiratory DiseasesTags :

Appeasing the Wheezing: Determinants and Outcomes of Respiratory Disease in Childhood

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Credit: Pixabay CC0

Asthma and cystic fibrosis are diseases which affect the lungs of children and adults. Previous research has shown that genetic and environmental factors during pregnancy and early childhood can contribute to the way children and young adults are affected by these lung diseases.

In her thesis, Emma Caffrey Osvald, PhD student at Karolinska Institutet looked for new factors that may influence the development and outcomes of asthma and cystic fibrosis. In the four included studies, Emma used data from a clinical cohort and national health and demographic registers and a quality register on individuals born in Sweden to shed light on potential factors which impact the course of asthma and cystic fibrosis. Her findings should be useful when creating clinical guidelines and policies for the prevention and management of respiratory disease in children and young adults.

What are the most important results in your thesis?

“In my first study, we show that mothers with asthma have an increased likelihood of having a child with asthma and that higher lung function in pregnancy is associated with a decreased likelihood of having a child with asthma. However, asthma or lung function in the mother does not impact childhood growth. In the second study, we see that parental social standing (socioeconomic status, measured as parents’ education and income) is associated with the onset of asthma in childhood. By comparing the social standing and onset of asthma among first cousins we see that parental education may be directly linked to the onset of asthma. In the third study, we also show that there is a connection between having asthma in childhood or young adulthood and death between 1 to 25 years of age. The likelihood of death between 1 to 25 years of age is higher if the person also has a life-limiting disease but not altered by the parents social standing at the child’s birth. In the final study, we see some association between low parental social standing and severe disease and lung function decline among persons with cystic fibrosis, however low parental social standing does not impact growth. So we found that there are factors in the parents (including during the pregnancy and social standing) which impacts the onset of asthma. Asthma increases the risk of mortality between 1 to 25 years and low parental social standing is shown to be associated with severe disease and lung function decline in persons with cystic fibrosis.”

Why did you become interested in this topic?

“I have wanted to learn more about epidemiology ever since my ex-job project as a medical student and these PhD projects have allowed me, as a paediatric pulmonologist, to explore the factors which influence onset and outcomes for children and young adults with respiratory disease. Asthma and CF are two chronic diseases which we meet as part of our routine clinical practice and for me it has been really interesting to avail of both clinical data and national register data and a variety of statistical methods to further our understanding of these diseases.“

What do you think should be done in future research?

“Areas which will interest me in my future research continues to be the determinants and outcomes of respiratory disease in childhood. For me, the future of register-based research lies in the combining of clinical data with register data. There is more to explore in regards to risk factors for acute respiratory disease such as severe pneumonia and empyema, but also the outcomes for persons with asthma and CF, such as presence of comorbidity or educational attainment.”

Doctoral thesis: Appeasing the wheezing: determinants and outcomes of respiratory disease in childhood.

Source: Karolinska Institutet

Categories : Ethics and Law PaediatricsTags :

Murder-accused Paediatric Surgeon Advised that Procedures Were Unnecessary

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Photo by Tingey Injury Law Firm on Unsplash

A state witness in the trial of murder accused Dr Peter Beale has testified that colleagues advised him against a procedure which led to the death of a three year old patient.

Paediatric surgeon Beale is charged with three counts of murder, as a result of deaths from unnecessary surgeries over 2012 to 2019. He is also charged with two counts of fraud. He was first arrested in 2019, with his trial date postponed multiple times and only getting underway this week Monday in Johannesburg. His co-accused, anaesthetist Dr Abdulhay Munshi, was shot dead in 2020. As a result of the case, some have voiced concerns over what could lead to criminalisation over deaths resulting from unavoidable errors and systemic failures.

Two of the three deaths stemmed from laparoscopic Nissen fundoplication, a complex and costly procedure that is usually used to treat GERD by tightening the junction of the oesophagus and stomach.

According to the indictment, Beale is accused of “unlawfully and intentionally” causing the deaths of a three-year-old boy in 2012, a 21-month-old girl in 2016 and a 10-year-old boy in 2019 after he had operated on the children.

The state contends that Beale performed these unnecessary procedures as he needed money to recover from heavy financial losses incurred in a failed investment in the 1990s.

News24 reports that, based on a rectal biopsy, Beale believed that the three year old boy had Hirschsprung’s Disease, requiring surgical intervention. As reported in Beeld, Beale said in his plea explanation that he “misread” the patient’s biopsy results and did not deliberately misrepresent the biopsy results to the parents.

The parents sought a second opinion, the state alleges, and the second doctor was hesitant about carrying out the procedure. Beale was able to convince the other doctor that the procedure was necessary based on the biopsy results. Beale also explained in his plea deal that there was a variant of the disease, and the treatment was the same. His counsel, Advocate Ian Greene, also pointed out that the pathologist testified at a disciplinary hearing that the biopsy did not exclude the variant even if it did not exclude Hirschsprung’s Disease.

According to News24, a state witness, who is another paediatric surgeon who remains anonymous at the court’s order, stated that Beale had tried to recruit him to a Ponzi scheme. The scheme had a joining fee of R1 million.

The witness, who had know Beale since 1996, said that in 2009, the accused had also confided in him at a conference that he had suffered significant losses in an investment. The witness was also on the committee at the Healthcare Practitioners’ Council of South Africa disciplinary hearing over the three-year-old’s death. Beale has since been struck from the HPCSA.

The South African Medical Association released a statement urging that, while tragic, the case highlights laws that criminalise and punish individuals instead of taking into account the various organisational failings that can lead to patient deaths and can in no way prevent “unavoidable errors”.

Note: this article has been updated to correct the number of laparoscopic Nissen fundoplication procedures and to add more information about the Hirschsprung’s Disease diagnosis.