What is childhood dementia? And how could new research help?
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“Childhood” and “dementia” are two words we wish we didn’t have to use together. But sadly, around 1,400 Australian children and young people live with currently untreatable childhood dementia.
Broadly speaking, childhood dementia is caused by any one of more than 100 rare genetic disorders. Although the causes differ from dementia acquired later in life, the progressive nature of the illness is the same.
Half of infants and children diagnosed with childhood dementia will not reach their tenth birthday, and most will die before turning 18.
Yet this devastating condition has lacked awareness, and importantly, the research attention needed to work towards treatments and a cure.
More about the causes
Most types of childhood dementia are caused by mutations (or mistakes) in our DNA. These mistakes lead to a range of rare genetic disorders, which in turn cause childhood dementia.
Two-thirds of childhood dementia disorders are caused by “inborn errors of metabolism”. This means the metabolic pathways involved in the breakdown of carbohydrates, lipids, fatty acids and proteins in the body fail.
As a result, nerve pathways fail to function, neurons (nerve cells that send messages around the body) die, and progressive cognitive decline occurs.
What happens to children with childhood dementia?
Most children initially appear unaffected. But after a period of apparently normal development, children with childhood dementia progressively lose all previously acquired skills and abilities, such as talking, walking, learning, remembering and reasoning.
Childhood dementia also leads to significant changes in behaviour, such as aggression and hyperactivity. Severe sleep disturbance is common and vision and hearing can also be affected. Many children have seizures.
The age when symptoms start can vary, depending partly on the particular genetic disorder causing the dementia, but the average is around two years old. The symptoms are caused by significant, progressive brain damage.
Are there any treatments available?
Childhood dementia treatments currently under evaluation or approved are for a very limited number of disorders, and are only available in some parts of the world. These include gene replacement, gene-modified cell therapy and protein or enzyme replacement therapy. Enzyme replacement therapy is available in Australia for one form of childhood dementia. These therapies attempt to “fix” the problems causing the disease, and have shown promising results.
Other experimental therapies include ones that target faulty protein production or reduce inflammation in the brain.
Research attention is lacking
Death rates for Australian children with cancer nearly halved between 1997 and 2017 thanks to research that has enabled the development of multiple treatments. But over recent decades, nothing has changed for children with dementia.
In 2017–2023, research for childhood cancer received over four times more funding per patient compared to funding for childhood dementia. This is despite childhood dementia causing a similar number of deaths each year as childhood cancer.
The success for childhood cancer sufferers in recent decades demonstrates how adequately funding medical research can lead to improvements in patient outcomes.
Another bottleneck for childhood dementia patients in Australia is the lack of access to clinical trials. An analysis published in March this year showed that in December 2023, only two clinical trials were recruiting patients with childhood dementia in Australia.
Worldwide however, 54 trials were recruiting, meaning Australian patients and their families are left watching patients in other parts of the world receive potentially lifesaving treatments, with no recourse themselves.
That said, we’ve seen a slowing in the establishment of clinical trials for childhood dementia across the world in recent years.
In addition, we know from consultation with families that current care and support systems are not meeting the needs of children with dementia and their families.
New research
Recently, we were awarded new funding for our research on childhood dementia. This will help us continue and expand studies that seek to develop lifesaving treatments.
More broadly, we need to see increased funding in Australia and around the world for research to develop and translate treatments for the broad spectrum of childhood dementia conditions.
Dr Kristina Elvidge, head of research at the Childhood Dementia Initiative, and Megan Maack, director and CEO, contributed to this article.
Kim Hemsley, Head, Childhood Dementia Research Group, Flinders Health and Medical Research Institute, College of Medicine and Public Health, Flinders University; Nicholas Smith, Head, Paediatric Neurodegenerative Diseases Research Group, University of Adelaide, and Siti Mubarokah, Research Associate, Childhood Dementia Research Group, Flinders Health and Medical Research Institute, College of Medicine and Public Health, Flinders University
This article is republished from The Conversation under a Creative Commons license. Read the original article.
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Calm For Surgery – by Dr Chris Bonney
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As a general rule of thumb, nobody likes having surgery. We may like the results of the surgery, we may like having the surgery done and behind us, but surgery itself is not most people’s idea of fun, and honestly, the recovery period afterwards can be a pain in every sense of the word.
Dr. Chris Bonney, an anesthesiologist, gives us the industry-secrets low-down, and is the voice of experience when it comes to the things to know about and/or prepare in advance—the little things that make a world of difference to your in-hospital experience and afterwards.
Think of it like “frequent flyer traveller tips” but for surgeries, whereupon knowing a given tip can mean the difference between deeply traumatic suffering and merely not being at your usual best. We think that’s worth it.
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Do Hard Things – by Steve Magness
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It’s easy to say that we must push ourselves if we want to achieve worthwhile things—and it’s also easy to push ourselves into an early grave by overreaching. So, how to do the former, without doing the latter?
That’s what this book’s about. The author, speaking from a background in the science of sports psychology, applies his accumulated knowledge and understanding to the more general problems of life.
Most of us are, after all, not sportspeople or if we are, not serious ones. Those few who are, will get benefit from this book too! But it’s mostly aimed at the rest of us who are trying to work out whether/when we should scale up, scale back, change track, or double down:
- How much can we really achieve in our career?
- How about in retirement?
- Do we ever really get too old for athletic feats, or should we keep pressing on?
Magness brings philosophy and psychological science together, to help us sort our way through.
Nor is this just a pep talk—there’s readily applicable, practical, real-world advice here, things to enable us to do our (real!) best without getting overwhelmed.
The style is pop-science, very easy-reading, and clear and comprehensible throughout—without succumbing to undue padding either.
Bottom line: this is a very pleasant read, that promises to make life more meaningful and manageable at the same time. Highly recommendable!
Click here to check out Do Hard Things, and get the most out of life!
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How Not to Diet – by Dr. Michael Greger
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We’ve talked before about Dr. Greger’s famous “How Not To Die” book, and we love it and recommend it… But… It is, primarily, a large, dry textbook. Full of incredibly good science and information about what is statistically most likely to kill us and how to avoid that… but it’s not the most accessible.
“How Not To Diet“, on the other hand, is a diet book, is very readable, and assumes the reader would simply like to know how to healthily lose weight.
By focussing on this one problem, rather than the many (admittedly important) mortality risks, the reading is a lot easier and lighter. And, because it’s still Dr. Greger advocating for the same diet, you’ll still get to reduce all those all-cause mortality risks. You won’t be reading about them in this book; it will now just be a happy side effect.
While in “How Not To Die”, Dr. Greger looked at what was killing people and then tackled those problems, here he’s taken the same approach to just one problem… Obesity.
So, he looks at what is causing people to be overweight, and methodically tackles those problems.
We’ll not list them all here—there are many, and this is a book review, not a book summary. But suffice it to say, the work is comprehensive.
Bottom line: this book methodically and clinically (lots of science!) looks at what makes us overweight… And tackles those problems one by one, giving us a diet optimized for good health and weight loss. If you’d like to shed a few pounds in a healthy, sustainable way (that just happens to significantly reduce mortality risk from other causes too) then this is a great book for you!
Click here to check out “How Not To Diet” on Amazon and get healthy for life!
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The Smartest Way To Get To 20% Body Fat (Or 10% For Men)
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20% body fat for women, or 10% for men, are suggested in this video as ideal levels of adiposity for most people. While we certainly do have wiggle-room in either direction, going much higher than that can create a metabolic strain, and going much lower than that can cause immune dysfunction, organ damage, brittle bones, and more.
This video assumes you want to get down to those figures. If you want to go up to those figures because you are currently underweight, check out: How To Gain Weight (Healthily!)
Look at the small picture
The main trick, we are told, is to focus on small, incremental changes rather than obsessing over long-term weight loss goals (e.g. 20% body fat for women, 10% for men).
Next, throw out what science shows doesn’t work, such as restrictive or extreme dieting:
- Restrictive dieting doesn’t work as the body will try to save you from starvation by storing extra fat and slowing your metabolism to make your fat reserves last longer
- Extreme dieting doesn’t work because no matter how compelling it is to believe “I’ll just lose it in this extreme way, then maintain my new lower weight”, the vast body of research shows that weight loss in this way will be regained quickly afterwards, and for a significant minority, may even end up putting more back on than was originally lost. In either case, you’ll have put your mind and body through the wringer for no long-term gain.
The recommendation comes in three parts:
- Shift your mindset: detach motivation from timelines and vanity goals; focus instead on lifelong health and sustainable habits.
- Use an analytical approach: apply engineering principles: collect honest data and identify bottlenecks. Track food intake consistently, even during slip-ups, to identify areas for improvement. You remember the whole “it doesn’t count if it’s from someone else’s plate” thing? These days with food trackers, a lot of people fall into “it doesn’t count if I don’t record it”, but a head-in-the-sand approach will not get you where you want to be.
- Tackle bottlenecks incrementally: focus on one small, impactful change at a time (e.g. reducing soda intake). This way, you can build habits gradually to prevent willpower burnout and sustain your progress.
As an example of how this looked for Viva (in the video):
- > 30% body fat stage: she focused on reducing processed foods and portion sizes.
- 29–25% body fat stage: she prioritized nutrient-dense foods and reduced dining out.
- 24–20% body fat stage: she added strength training, improved sleep, and addressed her cravings and energy levels.
In short: look at the small picture; adjust your habits mindfully, keep a track of things, see what needs improvement and improve it, and don’t try to speedrun weight loss; just focus on what you are tangibly doing to keep things heading in the right direction, and you’ll get there 1% at a time.
For more on all of this, enjoy:
Click Here If The Embedded Video Doesn’t Load Automatically!
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You might also like to read:
Lose Weight, But Healthily ← our own guide, which is also consistent with the advice above, and talks about some specific things to pay attention to that weren’t mentioned in the video
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Ovarian cancer is hard to detect. Focusing on these 4 symptoms can help with diagnosis
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Ovarian cancers are often found when they are already advanced and hard to treat.
Researchers have long believed this was because women first experienced symptoms when ovarian cancer was already well-established. Symptoms can also be hard to identify as they’re vague and similar to other conditions.
But a new study shows promising signs ovarian cancer can be detected in its early stages. The study targeted women with four specific symptoms – bloating, abdominal pain, needing to pee frequently, and feeling full quickly – and put them on a fast track to see a specialist.
As a result, even the most aggressive forms of ovarian cancer could be detected in their early stages.
So what did the study find? And what could it mean for detecting – and treating – ovarian cancer more quickly?
Ground Picture/Shutterstock Why is ovarian cancer hard to detect early?
Ovarian cancer cannot be detected via cervical cancer screening (which used to be called a pap smear) and pelvic exams aren’t useful as a screening test.
Current Australian guidelines recommend women get tested for ovarian cancer if they have symptoms for more than a month. But many of the symptoms – such as tiredness, constipation and changes in menstruation – are vague and overlap with other common illnesses.
This makes early detection a challenge. But it is crucial – a woman’s chances of surviving ovarian cancer are associated with how advanced the cancer is when she is diagnosed.
If the cancer is still confined to the original site with no spread, the five-year survival rate is 92%. But over half of women diagnosed with ovarian cancer first present when the cancer has already metastatised, meaning it has spread to other parts of the body.
If the cancer has spread to nearby lymph nodes, the survival rate is reduced to 72%. If the cancer has already metastasised and spread to distant sites at the time of diagnosis, the rate is only 31%.
There are mixed findings on whether detecting ovarian cancer earlier leads to better survival rates. For example, a trial in the UK that screened more than 200,000 women failed to reduce deaths.
That study screened the general public, rather than relying on self-reported symptoms. The new study suggests asking women to look for specific symptoms can lead to earlier diagnosis, meaning treatment can start more quickly.
What did the new study look at?
Between June 2015 and July 2022, the researchers recruited 2,596 women aged between 16 and 90 from 24 hospitals across the UK.
They were asked to monitor for these four symptoms:
- persistent abdominal distension (women often refer to this as bloating)
- feeling full shortly after starting to eat and/or loss of appetite
- pelvic or abdominal pain (which can feel like indigestion)
- needing to urinate urgently or more often.
Women who reported at least one of four symptoms persistently or frequently were put on a fast-track pathway. That means they were sent to see a gynaecologist within two weeks. The fast track pathway has been used in the UK since 2011, but is not specifically part of Australia’s guidelines.
Some 1,741 participants were put on this fast track. First, they did a blood test that measured the cancer antigen 125 (CA125). If a woman’s CA125 level was abnormal, she was sent to do a internal vaginal ultrasound.
What did they find?
The study indicates this process is better at detecting ovarian cancer than general screening of people who don’t have symptoms. Some 12% of women on the fast-track pathway were diagnosed with some kind of ovarian cancer.
A total of 6.8% of fast-tracked patients were diagnosed with high-grade serous ovarian cancer. It is the most aggressive form of cancer and responsible for 90% of ovarian cancer deaths.
Out of those women with the most aggressive form, one in four were diagnosed when the cancer was still in its early stages. That is important because it allowed treatment of the most lethal cancer before it had spread significantly through the body.
There were some promising signs in treating those with this aggressive form. The majority (95%) had surgery and three quarters (77%) had chemotherapy. Complete cytoreduction – meaning all of the cancer appears to have been removed – was achieved in six women out of ten (61%).
It’s a promising sign that there may be ways to “catch” and target ovarian cancer before it is well-established in the body.
What does this mean for detection?
The study’s findings suggest this method of early testing and referral for the symptoms leads to earlier detection of ovarian cancer. This may also improve outcomes, although the study did not track survival rates.
It also points to the importance of public awareness about symptoms.
Clinicians should be able to recognise all of the ways ovarian cancer can present, including vague symptoms like general fatigue.
But empowering members of the general public to recognise a narrower set of four symptoms can help trigger testing, detection and treatment of ovarian cancer earlier than we thought.
This could also save GPs advising every woman who has general tiredness or constipation to undergo an ovarian cancer test, making testing and treatment more targeted and efficient.
Many women remain unaware of the symptoms of ovarian cancer. This study shows recognising them may help early detection and treatment.
Jenny Doust, Clinical Professorial Research Fellow, Australian Women and Girls’ Health Research Centre, The University of Queensland
This article is republished from The Conversation under a Creative Commons license. Read the original article.
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Watermelon vs Cucumber – Which is Healthier?
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Our Verdict
When comparing watermelon to cucumber, we picked the cucumber.
Why?
Both are good! But in the battle of the “this is mostly water” salad items, cucumber wins out.
In terms of macros they both are, as we say, mostly water. However, watermelon contains more sugar for the same amount of fiber, contributing to cucumber having the lower glycemic index.
When it comes to vitamins, watermelon does a little better; watermelon has more of vitamins A, B1, B3, B6, C, and E, while cucumber has more of vitamins B2, B5, B9, K, and choline. So, a modest 6:5 win for watermelon.
In the category of minerals, it’s a different story; watermelon has more selenium, while cucumber has more calcium, iron, magnesium, manganese, phosphorus, potassium, and zinc.
Both contain an array of polyphenols; mostly different ones from each other.
As ever, enjoy both. However, adding up the sections, we say cucumber enjoys a marginal win here.
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