By Stephanie Nixon, QAS Advanced Care Paramedic II
In our role as healthcare professionals we have the opportunity to meet with, work with and treat people with a variety of medical conditions, diseases and disorders (and not even one of them reads a textbook). This article is not designed to be a comprehensive review, but rather to be a quick refresher on five conditions/syndromes/diseases that we may come across in clinical practice. We will discuss common presentations and potential implications for practice without discussing specific treatments.
Down syndrome
There are 23 chromosome pairs, each pair has one from the sperm and one from the egg. People with Down syndrome have an unusual cell division with chromosome 21 (either sperm or egg)1. This can result in either an extra chromosome 21 (95% of cases), some issues with cells and an extra chromosome 21 or partial chromosome 21 attached to another chromosome1. This means everyone will be individual in their overall health and some may be healthy while others may have serious health issues. Down syndrome results in distinct facial and body features, they will have a more flattened face, small head, short neck, upwards slanting eyelids, tongue that tends to stick out of the mouth, smaller ears, wide and small hands, small feet, shorter in height, poor muscle tone in infancy, and joints that are loose and flexible1. Development milestones are delayed such as sitting, talking and walking. Most children with Down syndrome will have mild to moderate cognitive impairment. This results in problems with memory, learning, focusing, thinking and decision making1. The main health concerns with attending these patients include; heart problems (often present at birth), digestive issues (blockages, heartburn, celiac disease), immune system compromise (high risk for autoimmune disease, cancers and infectious disease (especially ear and dental)), sleep apnoea (due to head and neck features), spinal injuries (atlantoaxial instability), and Alzheimer’s disease1. Those with Down syndrome can expect to live for 60 or more years depending on the severity of any other underlying health conditions1.
Motor Neurone Disease
Motor Neurone Disease (MND) is the term used when talking about diseases that affect the nerve cell ‘motor neurons’2. These neurons carry messages from the brain to the muscles through the spinal cord2. These messages allow for a range of movement. For example walking, talking and breathing2. MND occurs because the affected nerves become damaged and start to die. This causes muscle to weaken and waste away. The reason for this occurring is generally unknown. When MND occurs there are a variety of signs and symptoms and times when a paramedic might be called. This includes; falls (MND producing weakness in leg/foot muscles), slurred speech or choking (due to weakness developing in the tongue and throat muscles) or new onset general or specific weakness (unable to hold or move as they used to)2. How fast the weakening and cell death differs between individuals but from diagnosis the life expectancy is 2-3 years2.
Marfan Syndrome
Our bodies are made up of connective tissue (which holds the body together and plays a role in growth and development), and connective tissue is made up of proteins3. In Marfan syndrome there is a defect or mutation in the gene that tells the body how to make fibrillian-13. This results in an increase in a protein called transforming growth factor beta3. This is the protein that affects connective tissue throughout the body leading to loss of elasticity. This can lead to a range of health-related issues with many being life-threatening. Marfan syndrome commonly affects the aorta, generally aortic enlargement, aortic tear/rupture, mitral valve prolapse or aortic regurgitation due to this they are at high risk of paramedic attendance for aortic tear/rupture or heart related conditions3. Marfan syndrome can affect the eyes and cause detached retinas or dislocated lenses which are serious medical conditions. The narrowing of the jaw and long narrow skull can lead to complex airways. They is also a high risk for spontaneous pneuothorax3. There are many potentially life-threatening conditions associated with Marfan syndrome, and it is important to recognise them early. Life expectancy is same as the general population3.
Huntington’s Disease
Huntington’s disease is caused by nerve cells within the brain decaying over time4. This produces effects on the person’s ability to think, move and mental health4. This is caused by a difference in a single gene passed down from a parent4. Movement issues can include involuntary movements, slow/unusual eye movements, muscle rigidity, trouble walking/balancing and/or trouble with speech or swallowing4. The cognitive decline includes things such as trouble organising, lack of flexibility with a thought, getting stuck on a thought (perseveration), lack of awareness to their behaviour, acting without thinking, slowness in thinking and/or trouble retaining new information4. Depression is common due to the damage in the brain resulting in isolation, sleeping problems, fatigue, suicidal ideations4. Other mental health conditions someone observed are obsessive-compulsive disorder, mania or bipolar disorder4. In children with the disease there are often frequent falls/seizures as well as behavioural changes4. The timeframe for this condition’s progression is person dependant but from diagnosis to death is usually within 10-30 years, potentially less if the diagnosis was made before the age of 204.
Multiple Sclerosis
Multiple sclerosis (MS) in Australia is the most common acquired chronic neurological disease affecting people aged 20 to 40, affecting three times more females than males5. MS occurs when the body’s own immune system starts to attach and damage the fatty material (myelin) that surrounds the nerves5. Myelin is meant to insulate nerves so that all the electrical messages from the brain can get to the rest of the body quickly and efficiently5. When the cover is broken there is scarring of the nerve and the nerve effectively isn’t as reliable at sending signals anymore resulting in a range of symptoms that can include complete loss of motor function, loss of sensation, pain, vision changes and changes to thinking/memory5. These issues can result in Urinary tract infections, constipation, falls (balance/walking issues), choking, pain, dizziness/vertigo, and depression5. Those with MS have a life expectancy 6/7 years less than the general population5.
While within your career you may never meet a patient with these conditions/diseases it is helpful to understand the complex backgrounds some patients have and how these backgrounds can have implications for our clinical practice.
References
1Mayo clinic. (2024). Down syndrome. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
2MND Australia. (2024). What is motor neurone disease? https://www.mndaustralia.org.au/mnd-connect/what-is-mnd/what-is-motor-neurone-disease-mnd
3Healthdirect. (2024). Marfan syndrome. https://www.healthdirect.gov.au/marfan-syndrome
4Mayo Clinic. (2024). Huntington’s disease. https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117
5MS Australia. (2024). What is multiple sclerosis. https://www.msaustralia.org.au/what-is-multiple-sclerosis-ms/
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