EMS Particular Patient Populations - Down Syndrome

EMS Providers should have a solid understanding of Down syndrome to provide effective care to individuals with this condition.

Down Syndrome was first described by the British physician John Langdon Down in 1866. Down was the first to categorize and characterize the clinical features of the syndrome, which is why it bears his name. His work, titled "Observations on an Ethnic Classification of Idiots," was the foundational description of what we now know as Down Syndrome.

The genetic basis of Down Syndrome, specifically the presence of the extra chromosome, was discovered later. In 1959, French geneticist Jérôme Lejeune identified that individuals with Down Syndrome had an extra copy of chromosome 21, making the total chromosome count 47 instead of the typical 46.

This discovery was crucial in understanding the genetic origin of the condition and marked a significant advancement in genetics and cytogenetics.

Here are some key points they should know:

1. Recognition:

   • Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It is typically characterized by physical features such as upward slanting eyes, a flattened facial profile, and low muscle tone.
   • Recognize the physical characteristics of Down Syndrome to aid in identification during emergency situations.

2. Medical Considerations:

   • Individuals with Down Syndrome may have an increased risk of certain medical conditions, including congenital heart defects, respiratory issues, gastrointestinal problems, thyroid disorders, and hearing or vision impairments.
   • Be aware of the potential for co-occurring medical conditions and assess for signs and symptoms of associated health issues during the emergency assessment.

3. Communication:

   • Communicate in a clear, calm, and patient manner with individuals with Down syndrome, adapting your communication style to accommodate any speech or language challenges they may have.
   • Use simple language and visual cues to enhance understanding, and allow extra time for the individual to process information and respond.

4. Behavior Management:

   • Individuals with Down Syndrome may exhibit certain behavioral characteristics, such as impulsivity, stubbornness, or difficulty with transitions.
   • Approach the individual with patience and understanding, and use positive reinforcement and redirection techniques to manage challenging behaviors.
   • Avoid using force or restraint unless absolutely necessary for the safety of the individual or others.

5. Medical History:

   • Obtain a thorough medical history from caregivers or family members, including information about any preexisting medical conditions, medications, allergies, or previous surgeries related to Down Syndrome.
   • Be aware of any specific care plans or medical interventions that may be in place for the individual, such as cardiac medications or feeding tubes.

6. Sensory Sensitivities:

   • Individuals with Down Syndrome may have sensory sensitivities to certain stimuli, such as loud noises, bright lights, or unfamiliar environments.
   • Minimize sensory triggers during the assessment and transport process, and provide a calm and supportive environment to help reduce anxiety and agitation.

7. Collaboration with Caregivers:

   • Involve caregivers or family members in the care of the individual with Down syndrome, providing them with information and support as needed.
   • Collaborate with healthcare providers familiar with the individual's medical history and care needs to ensure continuity of care and appropriate treatment.

By incorporating these considerations into their practice, EMS providers can deliver compassionate and effective care to individuals with Down syndrome, addressing their unique needs and promoting positive outcomes during emergency situations.

Further Reading:

Alexander, M. & Belle, R. (2017) Advanced EMT: A Clinical Reasoning Approach (2nd Ed). Hoboken, New Jersey: Pearson Education

Bledsoe, B. E., Cherry, R. A. & Porter, R. S (2023) Paramedic Care: Principles and Practice (6th Ed) Boston, Massachusetts: Pearson

Langdon, J. & Down, H. (1966) Observations on an Ethnic Classification of Idiots. Heredity 21: 695–697 https://doi.org/10.1038/hdy.1966.69 Accessed April 29, 2024

Mistovich, J. J. & Karren, K. J. (2014) Prehospital Emergency Care (11th Ed). Hoboken, New Jersey: Pearson Education

Peate, I. & Sawyer, S (2024) Fundamentals of Applied Pathophysiology for Paramedics. Hoboken, New Jersey:  Wiley Blackwell