Category: Paediatrics

Categories : Healthcare Politics and Regulations PaediatricsTags : 2 Comments

Warning: Selenium and Zinc Picolinate-containing Products for Children

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Pretoria, 8 January 2026 – The South African Health Products Regulatory Authority (SAHPRA) has been made aware of products in the market containing Zinc picolinate (as a source material for zinc) and/or Selenium intended for use in children.

Both of these ingredients have been identified in the Guidance (SAHPRA Guideline 7.04 / SAHPGL-PEM-COMP-04 v5 CM SE Health Supplements) issued by SAHPRA as not permitted in health supplements for children (persons under the age of 18).

The safety concerns related to children are as follows:

  1. Zinc picolinate, at any supplemental dose, can cause side effects which include indigestion, diarrhoea, headache, nausea, and vomiting. As the bio-availability of Zn from Zn-picolinate is variable due to multiple factors, the risk of side effects may be higher and unpredictable, and it is unsuitable as a source of elemental zinc supplementation in children; and
  2. Selenium, when supplemented to children, represents a safety concern considering the potential differences in selenium daily intake between different population groups. While selenium intake is a viable requirement for children in areas of famine or dietary restriction, the potential adverse effects of selenium overdose are of concern when provided in general supplements/medicines intended for children.

The products currently on the market are marketed and sold, among others, as “Immune boosters” for children, with the main active ingredients being Zinc (when derived from Zinc picolinate) and/or Selenium intended for use in children. These products are indicated for supporting the treatment of colds, flu, diarrhoea, and skin-related conditions, rendering the products in question medicines that require registration by SAHPRA.

Any medicine sold that contains Zinc picolinate or Selenium intended for use in children does not qualify as a Category D (complementary) medicine. As such, their sale as a Category D medicine is illegal. Therefore, with effect from the date of publication of this notice, all selenium and zinc picolinate-containing products intended for use in children shall be subject to registration as a medicine falling into Category A, as defined in Section 14(2) of the Medicines and Related Substances Act, 101 of 1965, and need to be submitted to SAHPRA for registration. The sale of Category D (complementary) medicines containing Zinc picolinate or Selenium and intended for use in children must be withdrawn from the market within six (6) months of the date of this publication.

Advice for health professionals and distributors:

SAHPRA requests that Health professionals cease all distribution, selling, and/or dispensing and remove all selenium and zinc picolinate-containing products intended for use in children from stores, storage facilities, and shelves.

Members of the public are urged to return products containing Zinc Picolinate and Selenium when intended for use in children, to their pharmacist, supplying warehouse, or distributor.

Reporting side effects

Public and healthcare professionals are encouraged to report any side effects after using a health product by using the Med Safety App. Your report will contribute to our monitoring of these health products.

Source: SAHPRA

Categories : PaediatricsTags :

Rise in ADHD Diagnoses can Leave Parents Confused About ‘Typical’ Behaviour for Kids

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Children have higher energy levels than adults – but what is ‘typical’ behaviour?

Photo by Annie Spratt on Unsplash

Parents of children who fidget, daydream, and enjoy running and jumping should not automatically be concerned about ADHD.

This is the argument of a team of experts, comprised of a paediatrician, social worker and occupational therapist. They say it is important to attempt to alleviate confusion among parents around what is ‘typical’, and when children need professional help for developmental or behavioural differences.

Based on extensive evidence, their new book Developmental and Behavioral Complexities in Children highlights how the prevalence of ADHD, autism spectrum disorder, and some other developmental and behavioural diagnoses has increased – although they suggest it is not clear if this is because more people are aware of the conditions, screening has improved, changes in the diagnostic criteria have occurred, and/or if there is a genuine increase in the population. The increase in public awareness can sometimes lead to parents and caregivers questioning whether their child’s behaviour is different from others.

Jo-Ann Blaymore Bier, a retired developmental-behavioural paediatrician from Boston Children’s Hospital, occupational therapist Theresa A. Johnson, and Ellen Mullane who is a social worker, also say that opinions can differ among professionals which adds to the uncertainty for people who have children.

“The field of child development is not always a ‘black and white’ science,” they add.

“The way that children behave varies under different conditions and settings. Professionals may have varying thresholds for recommending intervention.

For example, they say: “Being energetic does not necessarily mean that a child has ADHD. Most children enjoy movement, and young children have limited attention spans.

Based on latest research and clinical experience, the experts offer strategies to manage problematic behaviours and examine the evidence behind available treatments.

The book is intended for advanced level students and professionals working in the field of child development, but may also be beneficial for parents and other caregivers who may have concerns. The book also answers questions that caregivers often ask such as is it my child’s personality or something more serious?

The authors, who have helped thousands of children, document a range of ‘typical’ behaviours as well as those likely to be symptoms of specific diagnoses, including autism, ADHD, and oppositional defiant disorder.

In the book, they emphasise that no one demonstrates what others consider acceptable behaviour all the time, and that all children are ‘wired’ differently.

ADHD is the most common childhood neuro-behavioural disorder, with some data sources indicating that about a million more children and adolescents in the US were diagnosed with ADHD in 2022 compared to 2016.

Increased awareness, changes in diagnostic criteria and in social norms are among many factors which the authors of Developmental and Behavioral Complexities in Children suggest may have contributed to the rise in cases.

However, no single specific medical test exists for ADHD. Clinicians make an assessment based on the child’s clinical presentation and on information from people who have observed the child’s behaviour.

For instance, children who are more energetic than their peers but also ‘function in group activities’ may not necessarily have ADHD,  according to the authors.

Autism spectrum disorder (ASD) is also on the rise and is examined in detail in the book. The authors say the ASD diagnosis may have become even more complex – instead of easier – to understand.

The term ‘neurodiversity’ has also become increasingly used. In the book, the authors say: “Accepting and encouraging individuality can be positive goals. But if an individual’s differences are having a negative impact on their functioning, providing supports to improve their quality of life can be beneficial.”

Source: Taylor & Francis

Categories : PaediatricsTags :

Sleep Practices During Infant Illnesses May Increase Risk of Sudden Infant Death

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When a child falls ill, caregivers often change how and where the infant sleeps – wanting to keep them close through the night. But new research from Johns Hopkins Children’s Center suggests that some of these changes – although well-intentioned – contradict proven safe sleep practices for infants, and may do more harm than good.

In interviews with more than 100 caregivers of infants ages birth to 12 months presenting to the emergency department for infant illness, researchers found that unsafe sleep practices became more common during periods of illness – and often persisted even after the illness resolved. These changes to sleep practices increase an infant’s risk of sudden unexpected infant death (SUID), a broad term that includes sudden infant death syndrome (SIDS). SUID, defined as the unexpected sudden death of a seemingly healthy infant from known and unknown causes, resulted in the deaths of 3700 infants in 2022, according to federal health statistics.

Numerous studies over past decades have tied unsafe sleep practices to both SIDS and SUID. Findings from the new study published in Pediatrics add to evidence that infant illness is a risk factor for SUID.

Caregivers were asked about the infants’ usual sleep practices, and if they changed when the babies were sick. The caregivers reported that adherence to safe habits, such as putting their infants in a crib or playpen, declined overall from 61.8% before illness to 48.1% during illness. In addition, the proportion of caregivers reporting their infants sleeping in a bed or on a couch rose from 56.5% before illness to 62.6% during illness, and further increased to 75% at the one-month follow-up. Similarly, bed-sharing rates increased overall from 57.3% before illness to 68.7% during illness, and further increased to 83.6% at the one-month follow-up.

Many caregivers in the study reported shifts away from recommended safe sleep practices, such as placing infants on their backs to sleep, during infant illness. The most common changes included increased bed-sharing, sleeping on non-recommended sleep surfaces, and prone or side positioning, which are not in line with the American Academy of Pediatrics safe sleep recommendations.

The fact that the alterations persisted beyond the illness period highlights the need for targeted interventions to reinforce safe sleep practices during illness, says Mary Beth Howard, MD, MSc, paediatric emergency medicine physician at Johns Hopkins Children’s Center and lead researcher on the study.

“Parents often make these changes because they want to comfort or closely watch their sick baby, but these well-intentioned adjustments actually raise the risks of sudden, unexpected death. Illness is a particularly vulnerable time, making it even more important to stick to safe sleep guidelines,” says Howard.

The Johns Hopkins investigators note that October is Sudden Infant Death Syndrome (SIDS) Awareness Month, a time to encourage safe infant sleep practices. According to the American Academy of Pediatrics, safe sleep practices include placing infants on their backs to sleep, having infants sleep alone without blankets, pillows or stuffed animals, and having babies sleep in a crib or bassinet.

Source: Johns Hopkins Medicine

Categories : PaediatricsTags :

Use of Social Media Linked to ADHD-like Symptoms in Kids

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Increased ADHD-related symptoms in children were linked to social media use, but not video games and television

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Children who spend a significant amount of time on social media tend to experience a gradual decline in their ability to concentrate. This is according to a comprehensive study from Karolinska Institutet, published in Pediatrics Open Science, where researchers followed more than 8000 children from around age 10 through age 14.

The use of screens and digital media has risen sharply in the past 15 years, coinciding with an increase in ADHD diagnoses in Sweden and elsewhere. Researchers at Karolinska Institutet in Sweden and Oregon Health & Science University in the USA have now investigated a possible link between screen habits and ADHD-related symptoms.

The study followed 8324 children aged 9–10 in the USA for four years, with the children reporting how much time they spent on social media, watching TV/videos and playing video games, and their parents assessing their levels of attention and hyperactivity/impulsiveness. 

Social media stands out

Children who spent a significant amount of time on social media platforms, such as Instagram, Snapchat, TikTok, Facebook, Twitter or Messenger, gradually developed inattention symptoms; there was no such association, however, for watching television or playing video games.

“Our study suggests that it is specifically social media that affects children’s ability to concentrate,” says Torkel Klingberg, professor of cognitive neuroscience at the Department of Neuroscience, Karolinska Institutet. “Social media entails constant distractions in the form of messages and notifications, and the mere thought of whether a message has arrived can act as a mental distraction. This affects the ability to stay focused and could explain the association.”

Significance at population level

The association was not influenced by socioeconomic background or a genetic predisposition towards ADHD. Additionally, children who already had symptoms of inattentiveness did not start to use social media more, which suggests that the association leads from use to symptoms and not vice versa.

The researchers found no increase in hyperactive/impulsive behaviour. The effect on concentration was small at the individual level. At a population level, however, it could have a significant impact.

“Greater consumption of social media might explain part of the increase we’re seeing in ADHD diagnoses, even if ADHD is also associated with hyperactivity, which didn’t increase in our study,” says Professor Klingberg.

Well-informed decisions

The researchers stress that the results do not imply that all children who use social media develop concentration difficulties, but there is reason to discuss age limits and platform design. In the study, the average time spent on social media rose from approximately 30 minutes a day for 9-year-olds to 2.5 hours for 13-year-olds, despite the fact that many platforms set their minimum age requirement at 13. 

“We hope that our findings will help parents and policymakers make well-informed decisions on healthy digital consumption that support children’s cognitive development,” says the study’s first author Samson Nivins, postdoctoral researcher at the Department of Women’s and Children’s Health, Karolinska Institutet.

The researchers now plan to follow the children after the age of 14 to see if this association holds. 

Source: Karolinska Institutet

Categories : Dermatology PaediatricsTags :

Do Babies Really Need Sunscreen? The Risks of Overuse and Underuse

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When it comes to protecting babies from the sun, many parents wonder if sunscreen is safe and necessary. The truth is, experts advise against using sunscreen on infants under six months old as their skin is thinner and more sensitive, leading to greater absorption of chemicals and a higher risk of irritation and rashes.

Babies under six months have a higher surface-area-to-body-weight ratio, which increases their exposure to sunscreen chemicals. Some chemical ingredients, like oxybenzone, may cause allergic reactions or disrupt hormones. Sunscreen can also impede a baby’s ability to sweat and regulate their body temperature. 

Instead, the best protection for young babies is to keep them out of direct sunlight, dress them in lightweight, long-sleeved clothing, and use hats and shade as natural barriers. 

For babies over six months, a gentle, broad-spectrum baby sunscreen with at least SPF 30 can be safely applied. However, using sunscreen should complement, not replace, other sun safety measures, which are vital – especially in our sunny South African climate! 

Karen Van Rensburg, spokesperson for Sanosan, explains, “Parents often struggle with knowing how much sunscreen to use on their babies. It’s important to understand that while sunscreen is a helpful tool, relying solely on it, especially for very young infants, can be risky. Using physical barriers like shade and protective clothing alongside sunscreen provides the safest approach to sun care for babies.”

To keep babies safe, parents should:

  • Avoid sun exposure during peak hours (10 a.m. to 4 p.m.)
  • Use shade and protective clothing as the first defence.
  • For babies over six months, reapply a suitable sunscreen on a regular basis to maintain protection, especially after going in the water, after drying off or after sweating. 
  • Your baby should not stay in the sun too long even with sunscreen because every sunburn damages the skin and is a serious risk to their health. 

This balanced approach highlights that cautious sunscreen use combined with physical protection methods is key to keeping baby skin healthy and safe from sun damage.

Sanosan Baby Sun Cream SPF 50+ is a top-tier sunscreen designed specifically for delicate baby skin including broad range of UVA+UVB protection SPF 50+. With its pleasant texture, this cream absorbs quickly for easy application and delivers 24 hours of nourishing care, making it suitable for babies, children, and adults alike. With its gentle formula, this sun cream helps maintain skin hydration while protecting against sun damage, allowing for worry-free outdoor playtime. Plus, its microplastic-free, and safe for our oceans!

Categories : Mental Health PaediatricsTags :

Social Media Use Drives Distrust Among Gen Z Teenage Girls

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Social media use in adolescence is linked to delayed bedtimes, negative self-image and, especially among teenage girls, greater distrust, shows a new study from University College London. In turn, these changes are associated with more symptoms of depression and anxiety, risk of self-harm, and suicidal behaviours several years later. 

Published in Social Psychiatry and Psychiatric Epidemiology, the study examined how use of social media on the cusp of adolescence (11-years-old) was indirectly associated with a range of psychiatric symptoms, including psychological distress, self-harm and suicidal behaviours, in late adolescence (17-years-old). 

The study found three mechanisms linking social media use in early adolescence to small overall increases in subsequent mental health problems. Both boys and girls who were using social media from early on (at age 11) tended to sleep a little later on average, and had more negative thoughts about their physical appearance at age 14, compared to those who had not used social media. Crucially, teenage girls who had been using social media at age 11 reported greater distrust of other people at age 14.  

The three key mechanisms, which involved later bedtimes, more negative perceptions of body image, and distrust, mediated the association between early social media use and subsequent mental health problems. These small but significant relationships held true even after adjusting for socioeconomic and demographic factors, any maternal mental health problems, and children’s prior mental health difficulties (at age 7).  

The findings were based on data from the UK’s nationally representative Millennium Cohort Study, which was designed to track the lives of around 19 000 children born in 2000 to 2001 (and who belong to ‘Gen Z’, that is, children born between 1997 and 2012).  

During 2011-2012, at around age 11, the participants were asked: “How often do you visit a social networking website on the internet, such as Facebook or Bebo?”. Around three years later, they were followed up and asked about their usual bedtime, their trust in others, and their self-perception. A range of mental health challenges were subsequently tracked another three years later, at age 17. 

Lead author, Dr Dimitris Tsomokos (UCL Institute of Education) said: “These findings suggest that interpersonal distrust was a significant driver of psychiatric symptoms among Gen Z girls who used social media from early adolescence. 

“This distrust of others may be a particularly female response to the pressures of social media, which can sadly be fertile ground for social comparison, cyberbullying and perceived exclusion.” 

“We know that teenage girls display more empathetic concern and tend to place higher value on reciprocal relationships, and perhaps this is what drives greater distrust among them.” 

As policymakers and parents grapple with how to navigate technology use in childhood, the study’s authors recommend greater intervention in early adolescence, focused on fostering a sense of trust and social safety. They believe this can help mitigate the negative impacts of social media usage on young people’s long term mental health. 

Source: University College London

Categories : Mental Health PaediatricsTags :

Mental Health and the NICU Mom: The Silent Battle Behind the Glass

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If you’ve ever walked through a neonatal intensive care unit (NICU), you’ll know the atmosphere – quiet, sterile, filled with tiny machines keeping even tinier lives stable. What you might not see, though, is the emotional toll it takes on mothers standing behind that glass.

For many moms of premature babies, the NICU isn’t just a place of healing – it’s a battlefield of fear, hope, and heartache. Studies suggest that up to 70% of mothers with babies in NICU experience symptoms of anxiety or depression, and a significant number show signs of post-traumatic stress disorder (PTSD) even months after discharge.

“Having a baby in NICU can be one of the most emotionally isolating experiences a mother faces,” says Sr Londe, independent midwife and Vital Baby South Africa’s trusted advisor. “You’re told to be strong, to hold it together. But inside, you’re scared and feel powerless.”

Unlike traditional postpartum depression, which often develops after birth, NICU-related mental health challenges can begin immediately; triggered by medical uncertainty, feelings of guilt, or the inability to bond physically with your baby.

“You may only be allowed to touch your baby for minutes at a time,” says Sr Londe. “That separation can deeply impact bonding and confidence.”

Feeling numb, struggling to sleep even when your baby is safe, replaying traumatic moments, or feeling disconnected from your child – these are all warning signs of trauma or depression. And yet, many mothers dismiss them.

“There’s still a stigma around maternal mental health,” says Sr Londe. “We need to normalise the conversation and remind mothers that they’re not alone.”

Talking to your healthcare provider, joining a support group, or connecting with a therapist who specialises in perinatal mental health can make a world of difference. Hospitals are also increasingly introducing peer-support programmes where NICU graduates’ parents help new families navigate the emotional maze.

“It’s okay to need help,” says Sr Londe. “You’re not failing as a mother, you’re processing an extraordinary experience.” 

As the conversation around maternal mental health grows, brands like Vital Baby are helping raise awareness that caring for moms is as important as caring for their babies. Because behind every incubator, there’s a mother who needs healing too. 

Vital Baby is a family-run business with over 45 years of experience in the baby industry. Our mission is to create products that make family time effortless and enjoyable for parents. The Vital Baby range is 100% BPA-free and covers every stage of your baby’s development, from feeding and weaning to hygiene and soothing. Explore the range online at Vital Baby® (vitalbabyshop.co.za) and enjoy delivery within South Africa or find us on shelf at Clicks and Dischem.

Categories : Ophthalmology PaediatricsTags :

Babies Learning to See After Being Born Blind

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A study conducted by University of Louvain (UCLouvain), published in Nature Communications, shows that part of the brain of babies born blind is permanently altered, while another part remains surprisingly intact. Babies’ brains are much more adaptable than previously thought: even if they cannot see at the very beginning of life, they can later learn to recognise the world around them.

Some babies are born with early blindness due to dense bilateral congenital cataracts, requiring surgery to restore their sight. This period of several months without vision can leave a lasting mark on how the brain processes visual details, but surprisingly little on the recognition of faces, objects, or words.

Using brain imaging, the researchers compared adults who had undergone surgery for congenital cataracts as babies with people born with normal vision. The results are striking: in people born with cataracts, the area of the brain that analyses small visual details (contours, contrasts, etc.) retains a lasting alteration from this early blindness. On the other hand, the more advanced regions of the visual brain, responsible for recognising faces, objects, and words, function almost normally. These “biological” results have been validated by computer models involving artificial neural networks. This distinction between altered and preserved areas of the brain paves the way for new treatments. In the future, clinicians may be able to offer visual therapies that are better tailored to each patient.

“Babies’ brains are much more adaptable than we thought,” explains Olivier Collignon, Professor at University of Louvain (UCLouvain). “Even if vision is lacking at the very beginning of life, the brain can adapt and learn to recognise the world around it even on the basis of degraded information.”

These findings also challenge the idea of a single “critical period” for visual development. Some areas of the brain are more vulnerable to early vision loss, while others retain a surprising capacity for recovery. “The brain is both fragile and resilient,” adds Olivier Collignon. “Early experiences matter, but they don’t determine everything.”

Source: Université catholique de Louvain

Categories : Cardiovascular Disease PaediatricsTags :

Hypertension in Children and Adolescents Nearly Doubled Between 2000 and 2020

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The rate of children and adolescents experiencing high blood pressure worldwide nearly doubled between 2000 and 2020, according to a new meta-analysis published in The Lancet Child & Adolescent Health journal.

In 2000, approximately 3.2% of children had hypertension, but by 2020, the prevalence had increased to more than 6.2% of children and adolescents under age 19, affecting 114 million young people around the world. The study suggests that obesity is a substantial driver of the increase in childhood hypertension, with nearly 19% of children and adolescents living with obesity affected by hypertension, compared to less than 3% in children and adolescents considered a healthy weight.

“The nearly twofold increase in childhood high blood pressure over 20 years should raise alarm bells for healthcare providers and caregivers,” said study author Prof Igor Rudan, Director of the Centre for Global Health Research at The Usher Institute, University of Edinburgh (UK). “But the good news is that we can take steps now, such as improving screening and prevention efforts, to help control high blood pressure in children and reduce the risks of additional health complications in the future.”

Based on a meta-analysis of data from 96 large studies involving more than 443 000 children across 21 countries, the researchers found that how blood pressure is measured in children and adolescents can affect prevalence estimates. When hypertension is confirmed by a healthcare provider over at least three in-office visits, the prevalence was estimated to be approximately 4.3%. However, when the researchers also included out-of-office assessments such as ambulatory or home blood pressure monitoring, the prevalence of sustained hypertension climbed to about 6.7%. The research highlighted that conditions like masked hypertension – where hypertension is not detected during routine checkups – affect nearly 9.2% of children and adolescents globally, indicating potential underdiagnosis. Simultaneously, the prevalence of white-coat hypertension (a condition where a person’s blood pressure is elevated only when they are in a medical setting, such as a doctor’s office, but is normal at home or when measured with a home blood pressure monitor) was estimated at 5.2%, which suggests that a notable proportion of children might be misclassified.

“Childhood high blood pressure is more common than previously thought, and relying solely on traditional in-office blood pressure readings likely underestimates the true prevalence or leads to misdiagnosis of hypertension in children and adolescents. Early detection and improved access to prevention and treatment options are more critical than ever to identify children experiencing or at-risk for hypertension. Addressing childhood hypertension now is vital to prevent future health complications as children transition to adulthood,” said study author Dr Peige Song, of the Zhejiang University School of Medicine (China).

The analysis suggests that children and adolescents with obesity are at a nearly eight times higher risk of developing high blood pressure, with approximately 19% of children with obesity having hypertension, compared to 2.4% of children and adolescents considered to be within a healthy weight range. This happens because obesity can cause other health problems, such as insulin resistance and changes in blood vessels, which make it harder to keep blood pressure within a healthy range.

The study also suggests that an additional 8.2% of children and adolescents have prehypertension, meaning blood pressure levels are higher than normal but do not yet meet the criteria for hypertension. Prehypertension is especially prevalent during adolescence, with rates reaching around 11.8% among teenagers, compared to about 7% in younger children. Blood pressure levels also tend to increase sharply during early adolescence, peaking around age 14, especially among boys. This pattern emphasises the importance of regular blood pressure screening during these critical years. Children and adolescents with prehypertension are more likely to progress to full hypertension.

The authors acknowledge some limitations of the study, including data variability due to differences in measurement methods, study designs, and regional healthcare practices. Many of the articles included originated from low- and middle-income countries, which may influence the overall estimates’ applicability globally. Additionally, some specific hypertension phenotypes and out-of-office assessments had limited data. Lastly, practical barriers such as lack of access to advanced blood pressure monitoring tools in some areas could hamper widespread adoption of recommended diagnostic procedures.

Writing in a linked Comment, lead author Rahul Chanchlani of McMaster University (Canada), who was not involved in the study, said, “Harmonised diagnostic criteria, expanded out-of-office monitoring, and context-sensitive surveillance are essential next steps. Education of healthcare providers, families, and policymakers is also crucial. The integration and implementation of childhood hypertension into broader non-communicable disease prevention strategies is a priority, recognising that cardiovascular risk begins not in middle age, but in childhood. The task ahead is straightforward: to ensure that no child’s elevated blood pressure goes undetected, unrecognised, or untreated.”

Source: EurekAlert!

Categories : Ageing PaediatricsTags :

Longevity Gene from Supercentenarians Offers Hope for Rapid Ageing Disease in Children

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A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using ‘longevity genes’ found in people who live exceptionally long lives – over 100 years old. The research, by the University of Bristol and IRCCS MultiMedica, found these genes which helps keep the heart and blood vessels healthy during ageing could reverse the damage caused by this life-limiting disease.

This is the first study, published in Signal Transduction and Targeted Therapy, to show that a gene from long-lived people can slow down heart ageing in a progeria model. Also known as Hutchinson-Gilford Progeria Syndrome (HGPS), Progeria is a rare, fatal genetic condition of “rapid-ageing” in children.

HGPS is caused by a mutation in the LMNA gene, which leads to the production of a toxic protein called progerin. Most affected individuals die in their teens due to heart problems, although a few, like Sammy Basso, the oldest known person with progeria, have lived longer.  Sadly, late last year (24 October) at the age of 28 Sammy passed away.

Progerin damages cells by disrupting the structure of their nucleus leading to early signs of ageing, especially in the heart and blood vessels.

Currently, the only United States Food and Drug Administration (FDA)-approved treatment is a drug called lonafarnib, which helps reduce the build-up of progerin. A newer clinical trial is now testing lonafarnib in combination with another drug called Progerinin to see if the combination works better.

In this study, researchers from Bristol Heart Institute, Dr Yan Qiu and Professor Paolo Madeddu, in collaboration with Professor Annibale Puca’s team at IRCCS MultiMedica in Italy, sought to explore whether genes from supercentenarians could help protect children with Progeria from the damaging effects of progerin.

The team focused on a ‘longevity gene’ found in centenarians, called LAV-BPIFB4. Previous research has showed that this gene helps keep the heart and blood vessels healthy during ageing.

Using mouse models genetically engineered to have Progeria, the research team were able to show early heart problems like those seen in children with the disease. The team found that a single injection of the longevity gene helped to improve heart function, specifically diastolic function.

It reduced heart tissue fibrosis and decreased the number of ‘aged’ cells in the heart. The gene also boosted the growth of new small blood vessels, which could help keep heart tissue healthy.

The team then tested the effect of the longevity gene in human cells from Progeria patients. Their findings showed adding the longevity gene to these cells reduced signs of ageing and fibrosis, without changing progerin levels directly. This suggests the gene helps protect cells from the effects of progerin, rather than removing it.  Importantly, the treatment doesn’t try to eliminate progerin but instead helps the body cope with its toxic effects.

Dr Yan Qiu, Honorary Research Fellow in the Bristol Heart Institute at the University of Bristol, said: “Our research has identified a protective effect of a “supercentenarian longevity gene” against progeria heart dysfunction in both animal and cell models.

“The results offer hope to a new type of therapy for Progeria; one based on the natural biology of healthy ageing rather than blocking the faulty protein. This approach, in time, could also help fight normal age-related heart disease.

“Our research brings new hope in the fight against Progeria and suggests the genetics of supercentenarians could lead to new treatments for premature or accelerated cardiac ageing, which might help us all live longer, healthier lives.”

Professor Annibale Puca, Research Group Leader at IRCCS MultiMedica and Dean of the Faculty of Medicine at the University of Salerno, added: “This is the first study to indicate that a longevity-associated gene can counteract the cardiovascular damage caused by progeria.

“The results pave the way for new treatment strategies for this rare disease, which urgently requires innovative cardiovascular drugs capable of improving both long-term survival and patient quality of life. Looking ahead, the administration of the LAV-BPIFB4 gene through gene therapy could be replaced and/or complemented by new protein- or RNA-based delivery methods.

“We are currently conducting numerous studies to investigate the potential of LAV-BPIFB4 in counteracting the deterioration of the cardiovascular and immune systems in various pathological conditions, with the goal of translating these experimental findings into a new biologic drug.”

Source: University of Bristol