Down Syndrome (Trisomy 21): Difference between revisions

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=== Epidemiology ===
=== Epidemiology ===
DS is the most commonly occurring chromosomal variance noted worldwide, with 1 in 1000 births resulting in a child with DS.<ref name=":32" /> <ref name=":34" /><ref>Windsperger K, Hoehl S. [https://www.frontiersin.org/articles/10.3389/fpsyt.2021.749046/full Development of Down Syndrome Research Over the Last Decades–What Healthcare and Education Professionals Need to Know]. Frontiers in Psychiatry. 2021 Dec 14;12:749046.</ref> In the UK alone, there are approximately 40,000 people living with Down Syndrome, and 750 are born each year with DS <ref name=":34">Learning Disability Today. Spotlight on: Down Syndrome. Available from https://www.learningdisabilitytoday.co.uk/spotlight-on-downs-syndrome (accessed 09 March 2022).</ref>. Birth rates are expected to stay the same, but the total population of persons with DS is expected to rise in the coming years. This is mainly due to medical advancements which have increased life expectancy from age 9 in 1929,<ref>Carr J, Collins S. [https://onlinelibrary.wiley.com/doi/10.1111/jar.12438 50 years with Down syndrome: A longitudinal study]. J Appl Res Intellect Disabil. 2018 Sep;31(5):743-750. </ref> to 60 years of age today.<ref>Zhu J, Hasle H, Correa A, Schendel D, Friedmant J, Olsen J, Ramussen S. Survival among people with down syndrome. Genetics in Medicine 2013;15:64-69. <nowiki>https://www.nature.com/articles/gim201293</nowiki> (accessed 12 March 2018). </ref> With this increase in the number and age of this population, there will be a larger demand on health services, such as physiotherapy, and increased challenges for families to overcome.
DS is the most commonly occurring chromosomal variance noted worldwide, with 1 in 1000 births resulting in a child with DS.<ref name=":32" /> <ref name=":34" /><ref>Windsperger K, Hoehl S. [https://www.frontiersin.org/articles/10.3389/fpsyt.2021.749046/full Development of Down Syndrome Research Over the Last Decades–What Healthcare and Education Professionals Need to Know]. Frontiers in Psychiatry. 2021 Dec 14;12:749046.</ref> In the UK alone, there are approximately 40,000 people living with Down Syndrome, and 750 are born each year with DS <ref name=":34">Learning Disability Today. Spotlight on: Down Syndrome. Available from https://www.learningdisabilitytoday.co.uk/spotlight-on-downs-syndrome (accessed 09 March 2022).</ref>. Birth rates are expected to stay the same, but the total population of persons with DS is expected to rise in the coming years. This is mainly due to medical advancements which have increased life expectancy from age 9 in 1929,<ref>Carr J, Collins S. [https://onlinelibrary.wiley.com/doi/10.1111/jar.12438 50 years with Down syndrome: A longitudinal study]. J Appl Res Intellect Disabil. 2018 Sep;31(5):743-750. </ref> to 60 years of age today.<ref>Zhu J, Hasle H, Correa A, Schendel D, Friedmant J, Olsen J, Ramussen S. Survival among people with down syndrome. Genetics in Medicine 2013;15:64-69. <nowiki>https://www.nature.com/articles/gim201293</nowiki> (accessed 12 March 2018). </ref> With this increase in the number and age of this population, there will be a larger demand on health services, such as physiotherapy, and increased challenges for families to overcome.
Additionally, persons with DS already report having problems gaining access to health care,<ref>Allerton L, Emerson E. British adults with chronic health conditions or impairments face significant barriers to accessing health services. Public Health 2012;126:920-927. https://www.ncbi.nlm.nih.gov/pubmed/22959282 (accessed 13 March 2018).</ref> with the main barrier being a lack of knowledge about available services.<ref>National Health Service. Promoting access to healthcare for people with a learning disability. www.jpaget.nhs.uk/media/186386/promoting_access_to_healtcare_for_people_with_learning_disabilities_a_guide_for_frontline_staff.pdf (accessed 14 March 2018).</ref> Furthermore, parents of persons with DS also commonly express feeling stressed and uncertain about the care of their child. They state that they desire more help from physical activity specialists regarding both education and available interventions.<ref>Menear, K. Parents perceptions of health and physical activity needs of children with Down syndrome. Down Syndrome Research 2007;12:60-68. <nowiki>https://library.down-syndrome.org/en-gb/research-practice/12/1/parents-perceptions-health-physical-activity-needs-down-syndrome/</nowiki> (accessed 12 April 2018).</ref>
== Signs and Symptoms ==
== Signs and Symptoms ==
Though there are many similarities across the DS population, there is great variation in the syndrome. There are three types of DS, each with its own set of challenges and individual variation. The three types of DS are Trisomy 21 (95%), Translocation (3%-4%) and Mosaicism (1%).<ref>Pueschel SM, editor. A parent's guide to Down syndrome: Toward a brighter future. Brookes Pub; 2001.</ref> Whichever the type, persons with DS typically have poorer overall health at a young age and exhibit a greater loss of health, mobility, and increased secondary complications as they age when compared to their non-DS counterparts. <ref>British Institute of Learning Disabilities. Supporting older people with learning disabilities. <nowiki>https://www.ndti.org.uk/uploads/files/9354_Supporting_Older_People_ST3.pdf</nowiki> (accessed 18 March 2018).</ref><ref>Cruzado D, Vargas, A. Improving adherence physical activity with a smartphone application based on adults with intellectual disabilities. BMC Public Health. 2013;13:1173. <nowiki>https://bmcpublichealth.biomedcentral.com/articles/10.1186/1471-2458-13-1173</nowiki> (accessed 11 March 2018).</ref> As a result, persons with DS and their families frequently access a range of health services, including physiotherapy.   
Though there are many similarities across the DS population, there is great variation in the syndrome. There are three types of DS, each with its own set of challenges and individual variation. The three types of DS are Trisomy 21 (95%), Translocation (3%-4%) and Mosaicism (1%).<ref>Pueschel SM, editor. A parent's guide to Down syndrome: Toward a brighter future. Brookes Pub; 2001.</ref> Whichever the type, persons with DS typically have poorer overall health at a young age and exhibit a greater loss of health, mobility, and increased secondary complications as they age when compared to their non-DS counterparts. <ref>British Institute of Learning Disabilities. Supporting older people with learning disabilities. <nowiki>https://www.ndti.org.uk/uploads/files/9354_Supporting_Older_People_ST3.pdf</nowiki> (accessed 18 March 2018).</ref><ref>Cruzado D, Vargas, A. Improving adherence physical activity with a smartphone application based on adults with intellectual disabilities. BMC Public Health. 2013;13:1173. <nowiki>https://bmcpublichealth.biomedcentral.com/articles/10.1186/1471-2458-13-1173</nowiki> (accessed 11 March 2018).</ref> As a result, persons with DS and their families frequently access a range of health services, including physiotherapy.   
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Physiotherapists provide tailored interventions to improve physical abilities, strength, and balance, while occupational therapists focus on enhancing daily living skills, fine motor control, and sensory processing. Speech and language therapists help individuals with DS develop effective communication skills and address feeding and swallowing challenges. Psychologists support emotional and cognitive well-being, helping individuals and their families cope with challenges and develop strategies for long-term success.
Physiotherapists provide tailored interventions to improve physical abilities, strength, and balance, while occupational therapists focus on enhancing daily living skills, fine motor control, and sensory processing. Speech and language therapists help individuals with DS develop effective communication skills and address feeding and swallowing challenges. Psychologists support emotional and cognitive well-being, helping individuals and their families cope with challenges and develop strategies for long-term success.


Although there is no standard treatment plan, effective physiotherapy management of Down syndrome typically involves a combination of sensory integration therapy, neurodevelopment treatment, perceptual-motor therapy and traditional strength and conditioning programs <ref name=":20">Down Syndrome Association. For Families and Carers. https://www.downs-syndrome.org.uk/for-families-and-carers/ (accessed 6 April 2018).</ref>.  Physiotherapists are commonly consulted to educate individuals and their families as well as provide input on health promotion and long-term condition management <ref>CSP. Learning disabilities physiotherapy. Associated of Chartered Physiotherapists for People with Learning Disabilities. www.acppld.csp.org.uk/learning-disabilities-physiotherapy (accessed13 March 2018).</ref>. Due to the variation in all people and across Down syndrome cases, no one physiotherapy intervention can be prescribed. Interventions are based on the individual’s physical and intellectual needs, as well as his or her personal strengths and limitations <ref name=":1">National Human Genome Research Institute. Learning about Down syndrome. https://www.genome.gov/19517824/learning-about-down-syndrome/ (accessed 16 March 2018). </ref>. Some of the common issues that physiotherapists will address are:
Although there is no standard treatment plan, effective physiotherapy management of Down syndrome typically involves a combination of sensory integration therapy, neurodevelopment treatment, perceptual-motor therapy and traditional strength and conditioning programs <ref name=":20">Down Syndrome Association. For Families and Carers. https://www.downs-syndrome.org.uk/for-families-and-carers/ (accessed 6 April 2018).</ref>.  Physiotherapists are commonly consulted to educate individuals and their families as well as provide input on health promotion and long-term condition management <ref>CSP. Learning disabilities physiotherapy. Associated of Chartered Physiotherapists for People with Learning Disabilities. www.acppld.csp.org.uk/learning-disabilities-physiotherapy (accessed13 March 2018).</ref>. Due to the variation in all people and across Down syndrome cases, no one physiotherapy intervention can be prescribed. Interventions are based on the individual’s physical and intellectual needs, as well as his or her personal strengths and limitations <ref name=":1">National Human Genome Research Institute. Learning about Down syndrome. https://www.genome.gov/19517824/learning-about-down-syndrome/ (accessed 16 March 2018). </ref> Below are some examples of effective interventions for children with Down syndrome. 
* Delayed developmental milestones
* [[Balance]] issues
* Decreased strength
* Reduced levels of [[Physical Activity|physical activity]]
* Issues with [[sensation]]
* Reduced [[Mental Health|mental health and emotional well-being]]
* High chance of Alzheimer’s disease
 
 
Choosing the right intervention based on the problems experienced and the individual child is essential to improve the outcome of treatment.  Below are some examples of effective interventions for children with Down syndrome. 
 
* Tummy time
* Tummy time
* Neurodevelopmental Treatment (NDT)
* Neurodevelopmental Treatment (NDT)

Revision as of 13:09, 19 April 2023

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Introduction[edit | edit source]

Down Syndrome (DS) is a chromosomal alteration.[1] Chromosomes are structures found in every cell of the body that contain genetic material and are responsible for determining anything ranging from eye colour to height.[2] Typically, each cell has 23 pairs of chromosomes.[2] However, in individuals with Down syndrome, there is a full or partial extra copy of chromosome 21 in some, or all, cells.[1] This triple copy is sometimes called trisomy 21.[1]

Epidemiology[edit | edit source]

DS is the most commonly occurring chromosomal variance noted worldwide, with 1 in 1000 births resulting in a child with DS.[1] [3][4] In the UK alone, there are approximately 40,000 people living with Down Syndrome, and 750 are born each year with DS [3]. Birth rates are expected to stay the same, but the total population of persons with DS is expected to rise in the coming years. This is mainly due to medical advancements which have increased life expectancy from age 9 in 1929,[5] to 60 years of age today.[6] With this increase in the number and age of this population, there will be a larger demand on health services, such as physiotherapy, and increased challenges for families to overcome.

Signs and Symptoms[edit | edit source]

Though there are many similarities across the DS population, there is great variation in the syndrome. There are three types of DS, each with its own set of challenges and individual variation. The three types of DS are Trisomy 21 (95%), Translocation (3%-4%) and Mosaicism (1%).[7] Whichever the type, persons with DS typically have poorer overall health at a young age and exhibit a greater loss of health, mobility, and increased secondary complications as they age when compared to their non-DS counterparts. [8][9] As a result, persons with DS and their families frequently access a range of health services, including physiotherapy.

Physical Characteristics[edit | edit source]

  • Growth failure
  • Flat posterior aspect of the head
  • Abnormal ears
  • Broad flat face
  • Slanting eyes
  • Epicanthic eyefold
  • Short nose
  • Small and arched palate
  • Big wrinkled tongue
  • Dental anomalies
  • Short and broad hands
  • Special skin ridge patterns
  • Unilateral/bilateral absence of one rib
  • Congenital heart disease
  • Intestinal blockage
  • Enlarged colon
  • Umbilical hernia
  • Abnormal pelvis
  • Diminished muscle tone
  • Big toes widely spread

Medical conditions[edit | edit source]

Although DS itself is not a medical condition but is simply a common variation in the human form, there are many medical conditions that people with DS frequently experience. These include:

Medical conditions.png

Balance and Down Syndrome[edit | edit source]

It is common for children with DS to be delayed in reaching common milestones such as sitting independently, standing and walking. One of the contributing factors to the delay of these specific milestones is poor balance. Balance challenges often follow a child into their teen years and sometimes into adulthood.[10] Impaired balance may also impact the development of other motor abilities and cognitive development. Being able to maintain balance allows for exploration, social interaction and overall freedom.[11]

Understanding the underlying factors contributing to poor balance can help therapists plan individual interventions and strategies to enhance the quality of life of persons with DS. Some causes of balance difficulties are:

  • Ligament Laxity: This results in elastic/loose joints and a large range of movement, which can lead to instability and poor control.
  • Low Muscle Tone: characterised by the ‘floppy’ appearance of limbs, with little activity in the muscles at rest, which impacts static balance. This can improve over time but can influence balance greatly in the early years.
  • Slow Reaction Times/Speed of Movement: When a person with slow reaction times/speed of movement feels unsteady, it will take longer time for them react to this feeling, and once it is understood, the corrective movement will also be delayed.
  • Differences in Brain Size: Persons with DS typically have smaller cerebellums, which is a part of the brain that contributes to the control of balance. The small size impacts its function, limiting balance reflexes, and causing blurry vision when completing tasks at high speed. Other parts of the brain are also smaller, creating issues with voluntary activities, walking technique and coordination.
  • Poor Postural Control: Typically the posture of a person with DS is slouched - hunched over, with a rounded neck. This prevents the head and body from sitting over the pelvis. Posture is impacted by inaccurate messages being sent to the brain from the body’s sensory system. This leaves people with DS less capable of adapting or making anticipatory adjustments to changing environments.[11][12][13]

Strength and Down Syndrome[edit | edit source]

Another contributing factor to delayed milestones and a common challenge for individuals with DS is decreased strength.

During childhood, children with DS do not experience the same amount of muscle growth or strength increase as their peers without DS.[14] This is in part due to the decreased amount of physical activity experienced by people with DS, but it is also caused by unknown genetic reasons - the reason on these factors is ongoing. Regardless of the reason, persons with DS consistently fall behind in strength categories when compared to their peers without DS; individuals with DS typically have 40-50% less strength.[15]

Decreased strength can have a large impact on the lives of persons with DS. Not only can it impact activities of daily living, such as walking upstairs, getting out of a seat etc, but it can also lead to:

  • increased wear and tear on joints
  • higher risk of falls
  • elevated level of fatigue
  • delayed developmental milestones
  • increased risk of osteoporosis[16]

It can also contribute to reduced balance due to weakness of the stability muscles.[16]

Sensation[edit | edit source]

In addition to the other challenges facing people with DS, they can also experience sensory issues [17]. Being unable to process sensory information from the environment, sensory integration, can be both frustrating and challenging, often leading to inappropriate behaviour as a response [18]. As humans, we use sensory information to gain experience, learn and interact with the world. When sensory feedback is limited, it can impact progress in other areas such as motor development [17]. Sensory difficulties can impact a child’s behaviour and the way they interact with people and objects around them [18].

[19]

Mental Health and Emotional Wellbeing[edit | edit source]

It is not uncommon for individuals with Down syndrome to experience challenges with emotional behaviours and mental health. Children with Down syndrome may have difficulties with communication skills, problem-solving abilities, inattentiveness and hyperactive behaviours. Adolescents may be susceptible to social withdrawal, reduced coping skills, depression, anxiety, obsessive-compulsive behaviours and sleep difficulties. Adults with DS may have similar experiences as adolescents, with further complications of dementia and alzheimer's later in life [20].

Physiotherapy Management and the Role of the Multidisciplinary Team[edit | edit source]

Physiotherapy and the multidisciplinary team plays a major role in supporting individuals with DS by adopting an holistic approach to their diverse needs[21]. Not everyone with DS will require physiotherapy intervention but at some point may need advice from occupational therapists, speech and language therapists, psychologists and other healthcare professionals.

Physiotherapists provide tailored interventions to improve physical abilities, strength, and balance, while occupational therapists focus on enhancing daily living skills, fine motor control, and sensory processing. Speech and language therapists help individuals with DS develop effective communication skills and address feeding and swallowing challenges. Psychologists support emotional and cognitive well-being, helping individuals and their families cope with challenges and develop strategies for long-term success.

Although there is no standard treatment plan, effective physiotherapy management of Down syndrome typically involves a combination of sensory integration therapy, neurodevelopment treatment, perceptual-motor therapy and traditional strength and conditioning programs [22]. Physiotherapists are commonly consulted to educate individuals and their families as well as provide input on health promotion and long-term condition management [23]. Due to the variation in all people and across Down syndrome cases, no one physiotherapy intervention can be prescribed. Interventions are based on the individual’s physical and intellectual needs, as well as his or her personal strengths and limitations [24] Below are some examples of effective interventions for children with Down syndrome. 


As many treatments often require on-going maintenance, the team should encourage family members to support and implement home treatment plans in an attempt to encourage self-management [25]. By fostering strong communication among the team members and families, the multidisciplinary rehabilitation team can make a lasting impact on the lives of individuals with Down syndrome, helping them achieve their full potential and lead more independent lives.

Resources[edit | edit source]

The following video “Ted Talk” presented by Karen Gaffney, a person with Down Syndrome, explores numerous contemporary thoughts surrounding DS and challenges society's preconceptions of people with DS.

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 National Down Syndrome Society. What is down syndrome. London: NDSS. https://www.ndss.org/about-down-syndrome/down-syndrome/ (accessed 09 March 2022).
  2. ↑ 2.0 2.1 National Human Genome Research Institute. Chromosome. Available from https://www.genome.gov/genetics-glossary/Chromosome (accessed 9 March 2022).
  3. ↑ 3.0 3.1 Learning Disability Today. Spotlight on: Down Syndrome. Available from https://www.learningdisabilitytoday.co.uk/spotlight-on-downs-syndrome (accessed 09 March 2022).
  4. ↑ Windsperger K, Hoehl S. Development of Down Syndrome Research Over the Last Decades–What Healthcare and Education Professionals Need to Know. Frontiers in Psychiatry. 2021 Dec 14;12:749046.
  5. ↑ Carr J, Collins S. 50 years with Down syndrome: A longitudinal study. J Appl Res Intellect Disabil. 2018 Sep;31(5):743-750.
  6. ↑ Zhu J, Hasle H, Correa A, Schendel D, Friedmant J, Olsen J, Ramussen S. Survival among people with down syndrome. Genetics in Medicine 2013;15:64-69. https://www.nature.com/articles/gim201293 (accessed 12 March 2018).
  7. ↑ Pueschel SM, editor. A parent's guide to Down syndrome: Toward a brighter future. Brookes Pub; 2001.
  8. ↑ British Institute of Learning Disabilities. Supporting older people with learning disabilities. https://www.ndti.org.uk/uploads/files/9354_Supporting_Older_People_ST3.pdf (accessed 18 March 2018).
  9. ↑ Cruzado D, Vargas, A. Improving adherence physical activity with a smartphone application based on adults with intellectual disabilities. BMC Public Health. 2013;13:1173. https://bmcpublichealth.biomedcentral.com/articles/10.1186/1471-2458-13-1173 (accessed 11 March 2018).
  10. ↑ Georgescu M, Cernea M, Balan V. Postural control in down syndrome subjects. The European Proceedings of Social and Behavioural Sciences. www.futureacademy.org.uk/files/images/upload/ICPESK%202015%2035_333.pdf (accessed 17 March 2018).
  11. ↑ 11.0 11.1 Malak R, Kostiukow A, Wasielewska A, Mojs E, Samborski W. Delays in motor development in children with down syndrome. Medical Science Monitor 2015;21:1904-1910. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500597/ (accessed18 March 2018).
  12. ↑ Costa A. An assessment of optokinetic nystagmus in persons with down syndrome. Experimental Brain Research 2011;8:110-121. https://www.sciencedaily.com/releases/2011/08/110824142850.htm (accessed17 March 2018).
  13. ↑ Saied B, Hassan D, Reza B. Postural stability in children with down syndrome. Medicina Sportiva 2014;1:2299-2304. https://search.proquest.com/docview/1510494760/fulltextPDF/6606B032D8C04A9EPQ/1?accountid=12269 (accessed19 March 2018).
  14. ↑ Cowley P, Ploutz-Snyder L, Baynard T, Heffernan K, Jae S, Hsu S. Physical fitness predicts functional tasks in individuals with Down syndrome. Med Sci Sports Exercise 2010;42:388-393.
  15. ↑ Mercer V, Stemmons V, Cynthia L. Hip abductor and knee extensor muscle strength of children with and without Down’s syndrome. Phys Ther 2001;1318-26.
  16. ↑ 16.0 16.1 Merrick J, Ezra E, Josef B, Endel D, Steinberg D, Wientroub S. Musculoskeletal problems in Down syndrome. Israeli J Pediatr Orthop 2000;9:185-192.
  17. ↑ 17.0 17.1 BruniI M.. Fine motor skills for children with Down syndrome. 2nd ed. Bethesda: Woodbine House Inc., 2006.
  18. ↑ 18.0 18.1 Lashno M. Sensory integration: observations of children with Down syndrome and Autistic spectrum disorders. Disability Solutions 1999;3:31-35.
  19. ↑ Scott R. Do you know me. 2015. [Picture]. https://psychprofessionals.com.au/sensory-processing-problem/ (accessed 12 April 2018).
  20. ↑ Van Germeren-Oosterom H, Fekkes M, Buitendijk S, Mohangoo A, Bruil J, Van Wouwe J. Development, problem behaviour, and quality of life in a population based sample of eight-year-old children with Down syndrome. Plos One 2011;6:7.
  21. ↑ CSP. What is physiotherapy. 2018. www.csp.org.uk/your-health/what-physiotherapy (accessed 14 April 2018).
  22. ↑ Down Syndrome Association. For Families and Carers. https://www.downs-syndrome.org.uk/for-families-and-carers/ (accessed 6 April 2018).
  23. ↑ CSP. Learning disabilities physiotherapy. Associated of Chartered Physiotherapists for People with Learning Disabilities. www.acppld.csp.org.uk/learning-disabilities-physiotherapy (accessed13 March 2018).
  24. ↑ National Human Genome Research Institute. Learning about Down syndrome. https://www.genome.gov/19517824/learning-about-down-syndrome/ (accessed 16 March 2018).
  25. ↑ Middleton J, Kitchen S. Factors affecting the involvement of day centre staff in the delivery of physiotherapy to adults with intellectual disabilities. Journal of Applied Research in Intellectual Disabilities 2008:21:227-235. www.onlinelibrary.wiley.com/doi/10.1111/j.1468-3148.2007.00396.x/epdf (accessed 11 March 2018).
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