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Aetiology and function

Magnus Påhlman explains how we should think when it comes to aetiology and function in ESSENCE disorders.

[Posted on 23 June, 2021 by Magnus Påhlman]

My clinical journey has gone through paediatrics to paediatric neurology and habilitation. As a future paediatrician, you are trained to piece together an ill child's different symptoms and consider whether there may be an underlying cause of symptoms from different organs. An underlying disease in childhood can cause many disparate symptoms. Strikingly often, a common denominator is found, although there CAN sometimes be two simultaneous conditions. As a prospective paediatric neurologist, you become even more aware of syndromes with various manifestations from the nervous system, often in combination with symptoms from other organs. Given the multitude of different syndromes and metabolic diseases in children, it is a given to look for a common aetiology and diagnosis. It is of great value to children and families.

The brain is fascinating to say the least in its complexity and for me not least it becomes more difficult to understand the more I do understand. It is easy to see that an injury or impact on the brain can cause various functions to be affected. Especially young children with brain injuries often have disabilities in several areas - motor skills, sensory skills, perception, cognition, communication and behaviour. This requires an opposite way of thinking compared to the search for a common aetiology. Here we need to think broadly and multifunctionally. Although the different functions of the brain are intertwined and are difficult to completely distinguish from one another, we need to be able to divide and describe functions and disabilities in different areas. Our diagnostic systems do this in a reasonably good way based on what we know today. But many before me have seen both the benefits and limitations of our different distinctions. The concept of ESSENCE (early symptomatic syndromes eliciting neurodevelopmental clinical examinations) articulates that and is very helpful.

Today I predominantly meet children with various mobility impairments. The most common diagnosis is cerebral palsy (often abbreviated CP), but most of my knowledge can be applied to most paediatric neurological conditions. Children with cerebral palsy often have other disabilities and relatively often the physical disability is a minor problem compared to other difficulties that are more restrictive in terms of function, participation and quality of life. In my research, I have actively looked for various disabilities in children with cerebral palsy, and focus mostly on, the seldom studied relationship with autism and ADHD. In short, autism and ADHD are very common in cerebral palsy, and more common than we previously thought.

I have thought about why we have often not identified the difficulties the children have, and have of course received a lot of help in this from parents and other professionals. Of course, it can be difficult for a child with several other disabilities to distinguish what is what. Many times it seems as if we are wearing the "right glasses". We don’t see what we actually see, but try to interpret everything under one and the same explanatory model. But sometimes there is a fear of "giving new diagnoses" to a child who has already received several diagnoses. As if the diagnosis itself would create greater difficulties than the child already has. Diagnoses can be seen as a language to highlight something an individual needs help with. And we must not forget that diagnoses exist at different levels - aetiology and function. In addition, several disability diagnoses make it sound as if there are several different difficulties when in fact they are caused by the same underlying brain injury / disease. As I said, our descriptions and distinctions have their limitations.

Disabilities, and consequent diagnoses, are the rule rather than the exception in children with the vast majority of paediatric neurological conditions. It may be impaired vision or hearing, intellectual disability or communication difficulties. Autism and ADHD are most likely underdiagnosed in paediatric neurology. Besides cerebral palsy, both autism and ADHD are common in epilepsy, Down syndrome, various neuromuscular diseases and other more unusual syndromes. The list goes on. We need to actively identify all the disabilities a child has in order to meet the child with the right understanding and the right support.

In paediatric neurology, we need to think both narrowly (aetiology) and broadly (function) simultaneously. Not just keep two things in mind at the same time but have two directions in our way of thinking and working.

[This is a blog. The purpose of the blog is to provide information and raise awareness concerning important issues. All views and opinions expressed are those of the writer and not necessarily shared by the GNC.]

Magnus Påhlman portrait photo
Magnus Påhlman
Photo: Josefin Bergenholtz