“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.

Attention-deficit hyperactivity disorder (ADHD) can have a considerable impact on the day-to-day functioning and overall wellbeing of people affected. It causes a variety of symptoms including difficulty focusing, impulsivity and hyperactivity.

For many, a diagnosis of ADHD, whether in childhood or adulthood, is life changing. It means finally having an explanation for these challenges, and opens up the opportunity for treatment, including medication.

Although ADHD medications can cause side effects, they generally improve symptoms for people with the disorder, and thereby can significantly boost quality of life.

Now a new study has found being treated for ADHD with medication reduces the risk of early death for people with the disorder. But what can we make of these findings?

A large study from Sweden

The study, published this week in JAMA (the prestigious journal of the American Medical Association), was a large cohort study of 148,578 people diagnosed with ADHD in Sweden. It included both adults and children.

In a cohort study, a group of people who share a common characteristic (in this case a diagnosis of ADHD) are followed over time to see how many develop a particular health outcome of interest (in this case the outcome was death).

For this study the researchers calculated the mortality rate over a two-year follow up period for those whose ADHD was treated with medication (a group of around 84,000 people) alongside those whose ADHD was not treated with medication (around 64,000 people). The team then determined if there were any differences between the two groups.

What did the results show?

The study found people who were diagnosed and treated for ADHD had a 19% reduced risk of death from any cause over the two years they were tracked, compared with those who were diagnosed but not treated.

In understanding this result, it’s important – and interesting – to look at the causes of death. The authors separately analysed deaths due to natural causes (physical medical conditions) and deaths due to unnatural causes (for example, unintentional injuries, suicide, or accidental poisonings).

The key result is that while no significant difference was seen between the two groups when examining natural causes of death, the authors found a significant difference for deaths due to unnatural causes.

So what’s going on?

Previous studies have suggested ADHD is associated with an increased risk of premature death from unnatural causes, such as injury and poisoning.

On a related note, earlier studies have also suggested taking ADHD medicines may reduce premature deaths. So while this is not the first study to suggest this association, the authors note previous studies addressing this link have generated mixed results and have had significant limitations.

In this new study, the authors suggest the reduction in deaths from unnatural causes could be because taking medication alleviates some of the ADHD symptoms responsible for poor outcomes – for example, improving impulse control and decision-making. They note this could reduce fatal accidents.

The authors cite a number of studies that support this hypothesis, including research showing ADHD medications may prevent the onset of mood, anxiety and substance use disorders, and lower the risk of accidents and criminality. All this could reasonably be expected to lower the rate of unnatural deaths.

Strengths and limitations

Scandinavian countries have well-maintained national registries that collect information on various aspects of citizens’ lives, including their health. This allows researchers to conduct excellent population-based studies.

Along with its robust study design and high-quality data, another strength of this study is its size. The large number of participants – almost 150,000 – gives us confidence the findings were not due to chance.

The fact this study examined both children and adults is another strength. Previous research relating to ADHD has often focused primarily on children.

One of the important limitations of this study acknowledged by the authors is that it was observational. Observational studies are where the researchers observe and analyse naturally occurring phenomena without intervening in the lives of the study participants (unlike randomised controlled trials).

The limitation in all observational research is the issue of confounding. This means we cannot be completely sure the differences between the two groups observed were not either partially or entirely due to some other factor apart from taking medication.

Specifically, it’s possible lifestyle factors or other ADHD treatments such as psychological counselling or social support may have influenced the mortality rates in the groups studied.

Another possible limitation is the relatively short follow-up period. What the results would show if participants were followed up for longer is an interesting question, and could be addressed in future research.

What are the implications?

Despite some limitations, this study adds to the evidence that diagnosis and treatment for ADHD can make a profound difference to people’s lives. As well as alleviating symptoms of the disorder, this study supports the idea ADHD medication reduces the risk of premature death.

Ultimately, this highlights the importance of diagnosing ADHD early so the appropriate treatment can be given. It also contributes to the body of evidence indicating the need to improve access to mental health care and support more broadly.

Hassan Vally, Associate Professor, Epidemiology, Deakin University

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