A child’s development seems like something that happens naturally, just like health. We take it for granted, without a second thought. Until it becomes clear that “normal development in a child” is sometimes not a given. Some children develop more slowly than their peers. For example, they may roll over, sit, stand, walk or talk later than others.
Normal comes in many shades. What is normal and what is abnormal in young children’s development? It’s a difficult question, especially if you’d rather not see it. This applies to parents, but also to healthcare providers.
It often takes a while before it becomes clear that something is wrong with a child’s health. Is it a problem if it takes a while? Sometimes it is. In fact, early detection can be vital.
An example: since 2024, a treatment has been available for children with MLD, a form of childhood dementia that sometimes causes symptoms from the first year of life. The available treatment, a form of gene therapy, can only be used when there are hardly any symptoms yet, i.e. before the genetic disease has caused all kinds of permanent damage at the cellular level. If there are already more symptoms, the therapy is counterproductive. The majority of children with childhood dementia (MLD) are therefore not eligible for this treatment. If there are younger brothers or sisters in the family with the same genetic disease, gene therapy is sometimes possible.
So how do you ensure early detection? The most successful method to date is heel prick screening for babies in the first week after birth. This is now available for 27 diseases, but not yet for many others, including MLD.
Is timely diagnosis only important for treatment? No. A diagnosis provides certainty. Even with very serious diagnoses, many parents say that knowing is less painful than the alternative: uncertainty while knowing deep down that something is wrong.
Without a diagnosis, parents continue to struggle with questions: How do I access care for my child? How do I find reliable information about the course of the disease? And what does this mean for my other children? A diagnosis also makes it possible to find fellow sufferers. Other parents who know what you are going through. They may already have found solutions to questions that are still on your mind.
At UMC Utrecht, we are committed to making the diagnostic process as quick as possible. The Sylvia Toth Centre has been set up for this purpose. There, a multidisciplinary team sees children with developmental delays. Together, they spend a day considering the question: what is wrong with this child? Physiotherapists and psychologists assess motor skills and comprehension. Specialists look for clues to make an accurate diagnosis. All the pieces of the puzzle are put together in a multidisciplinary consultation. Thanks to new techniques, it is becoming increasingly easier to determine a diagnosis. In fact, most of the diagnoses we make in children with developmental delays involve very rare diseases. Sometimes there are only a few known cases worldwide.
This approach is successful in about half of the children whose condition is unclear to parents and caregivers. For them, a path is mapped out that may offer the prospect of a diagnosis in the future. At the academic hospital, we strive to help children without a diagnosis as well. As a doctor and researcher, I am part of international networks in which scientists can ask their colleagues worldwide to help them figure out what might be wrong with a child. Together with the team, we discuss what we see from different perspectives and we read about recent international discoveries made by other scientists. In short, we conduct scientific research to unravel more disease mechanisms. Occasionally, we succeed in describing a “new” disease that was not yet in the books, but from the moment of publication can be found by doctors worldwide. In this way, we in Utrecht also contribute to patients’ search for a diagnosis. So that they are not alone.
Sting once sang, ‘how fragile we are’. This also applies to our development as human beings. Normal development seems ordinary, but it is based on countless processes that run smoothly ‘by themselves’. One tiny mistake can disrupt everything. Fortunately, we are not constantly aware of this.
Peter van Hasselt, Associate Professor
Paediatrician specialising in metabolic diseases
UMC Utrecht, Wilhelmina Children’s Hospital
