Musculoskeletal Effects Of Down Syndrome: Difference between revisions

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Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations).[1][2]Factors that are responsible for developmental challenges in children with down syndrome are hypotonia, ligament laxity, decreased muscle strength, insufficient muscular co-contraction, atlantoaxial instability, balance dysfunction, disturbed proprioception, skeletal deformities(scoliosis, foot deformities), hip and patellar instability.[3][4]

Down syndrome is diagnosed in two ways, during pregnancy or shortly after birth. The diagnosis is always based on the presence of an extra number 21 chromosome on a karyotype[5].[6][7]

Effects on the Musculoskeletal System[edit | edit source]

Balance and gross motor impairment in children with down syndrome.[3]

Delayed milestones[edit | edit source]

Delayed milestones are observed in children with down syndrome, they are slow in learning to roll/ turn over, sit , stand ,walk or do other activities. At later stage, child will reach the same basic gross motor skills to those without down syndrome that are necessary for activities of daily living.[8]

Reduced Muscle Strength[edit | edit source]

Bone mass and bone geometry are influenced by growth and muscle development in children and adolescents. This process is further modified by hormonal signals.

Motor function in individuals with Down syndrome is characterized by hypotonia[9]and hyper flexibility, which results in an increased risk of joint dislocation and retarded motor skills.

Hypotonia, decreased muscle tone, has a negative effect on the proprioceptive feedback from muscle and joint sensory structures and can have a detrimental effect on the efficiency of co – contractions and postural reactions.

People with Down syndrome have hyper flexibility, more joint mobility than the average. The increased joint mobility may contribute to the lack of posture control. Together with the failure of co-contraction, it can have a negative impact on joint stability. This joint laxity is found in several parts of the body[10]due to the abnormal collagen found in Down syndrome.

Vitamin D Deficiency[edit | edit source]

There is a damaging effect of vitamin D insufficiency on musculoskeletal health in children and adolescents during the critical time of bone-mass accrual.[11] Vitamin D is not only essential for normal growth of children, but also for the preservation of the bones. Vitamin D is also important for other functions such as muscle tone, the immune defense and even cancer.

Vitamin D, per oral absorbed through food or created under the influence of sunlight, is a precursor of the hormone 1,25 – dihydroxy vitamin D. The latter stimulates the small intestine absorption and kidney reabsorption of calcium and thus ensures a better bone.

In patients with Down syndrome, risk factors, such as inadequate exposure to sun, inadequate vitamin D intake and malabsorption or increased breakdown of vitamin D that accompanies anticonvulsant therapy, contribute to vitamin D insufficiency. Down syndrome patients usually have osteoporosis and fractures as a result of this deficiency.

Kirner deformity[edit | edit source]

A mild deformity at birth, in which curvature of the distal phalanx of the 5th digit in both a volar and radial direction is characterized, some may present with swelling and erythema. It presents in late childhood to early adolescence and can be managed by splinting, stretching and osteotomy of deformed distal phalanx.[12]

Bone Mass[edit | edit source]

The accrual of bone mass during childhood is a key determinant of bone health in adulthood, and a low peak skeletal mass is considered an important risk factor for osteoporosis in adult life.

Multivariate analysis showed that Down syndrome was associated with low Bone mineral density (BMD) of the spine. Lack of physical exercise, low muscle strength, insufficient exposure to the sun, low levels of vitamin D and prolonged use of anticonvulsants are all additional risk factors for low BMD.

Some experts hypothesize that the extra copy of chromosome 21 could be responsible for the short stature, skeletal abnormalities and early ageing that are seen in patients with Down syndrome.[13][14]

Gait Problems[edit | edit source]

Children with Down syndrome typically learn to walk with their feet wide apart, their knees stiff and their feet turned out. They do so because hypotonia, ligamentous laxity and weakness make their legs less stable. Physical therapy should start with teaching the child with Down syndrome the proper standing posture when he is still very young. So, feet positioned under the hips and pointing straight ahead with a slight bend in the knees. With appropriate physical therapy, gait problems can be minimized or avoided.[15]

Pelvis[edit | edit source]

Outward flaring of iliac wings known as “mickey mouse pelvis”

Posture[edit | edit source]

Children with Down syndrome typically learn to sit with a posterior pelvic tilt, trunk rounded and the head resting back on the shoulders. Physical therapy must teach the child the proper sitting posture by providing support at the proper level even before the child is able to sit independently. Appropriate physical therapy can minimize problems with trunk posture.

Balance[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. It is well known that persons with DS are often considered floppy, clumsy, uncoordinated and have awkward movement patterns due to balance issues. These balance challenges often follow the child into the teen years and sometimes into adulthood [16]


Atlantoaxial Instability[edit | edit source]

Neck pain, spasticity, gait difficulties and hyperreflexia may indicates atlantoaxial subluxation. Misalignment of the first and second vertebrae occur in 1-2% of children with down syndrome. Cervical radiography is recommended and participation in sports should be restricted, as it increases the risk of spinal cord injury.[18]

Evidence for Physiotherapy Intervention[edit | edit source]

Without physical therapy, a child with Down syndrome could end up having postural, gait and orthopedic problems later in life from using their muscles incorrectly. They also are at greater risk of joint problems if muscles are not strengthened. The importance of early intervention should be emphasized.

One of the major goal of physical therapy is to minimize the development of the compensatory movement patterns that children with Down syndrome are prone to develop. Working with their muscles and movements will help children reach some of their motor milestones and will prevent them from developing problems, such as bad trunk posture and gait problems. the aim of treatment is to assist people to live as independently as possible [19]Physical therapy at an early age strengthens the muscles, enabling the children with Down syndrome to keep their body in proper alignment and prevent future health problems[20]

An example of a training program[21] titled “Effects of a community – based progressive resistance training program on muscle performance and physical function in adults with down syndrome: a randomized controlled trial, 2008” aimed to improve muscle strength with progressive resistance training. In conclusion the trail concluded that progressive resistance training is a safe and feasible fitness option that can improve upper-limb muscle endurance in adults with Down syndrome.

Various other studies illustrate also positive effects on motor skills.

  1. Roizen NJ, Patterson D. Down’s syndrome. The Lancet. 2003 Apr 12;361(9365):1281-9.
  2. Patterson, D (Jul 2009). “Molecular genetic analysis of Down syndrome”. Human Genetics126 (1): 195–214
  3. 3.0 3.1 Jain, P. D., Nayak, A., Karnad, S. D., & Doctor, K. N. (2022). Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review. Clinical and experimental pediatrics, 65(3), 142–149.
  4. Sheilds, N. (2021). Physiotherapy management of Down syndrome. Journal of physiotherapy, 67(4), 243-251. doi:
  5. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S. Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine. 2012 Dec 6;367(23):2175-84.
  6. Prenatal Screening for Down Syndrome. Available from: (last accessed 17.11.2019)
  7. Skotko B, Bedia RC. Postnatal support for mothers of children with Down syndrome. Mental Retardation. 2005 Jun;43(3):196-212.
  8. Down Syndrome Developmental Milestones and Physical Activity
  9. Frith, U., & Frith, C. D. (1974). SPECIFIC MOTOR DISABILITIES IN DOWNS SYNDROME. Journal of Child Psychology and Psychiatry, 15(4), 293–301
  10. Down Syndrome: Health Issues. Available from: (last accessed 17.11.2019)
  11. Del Arco C, Riancho JA, Luzuriaga C, Gonzalez‐Macias J, Florez J. Vitamin D status in children with Down’s syndrome. Journal of Intellectual Disability Research. 1992 Jun;36(3):251-7.
  12. Sargent M, Bell D, Gaillard F, et al. Kirner deformity. Reference article, (Accessed on 18 Nov 2023)
  13. McKelvey KD, Fowler TW, Akel NS, Kelsay JA, Gaddy D, Wenger GR, Suva LJ. Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporosis International. 2013 Apr 1;24(4):1333-8.
  14. Hawli Y, Nasrallah M, Fuleihan GE. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nature Reviews Endocrinology. 2009 Jun;5(6):327.
  15. Winders, PC. The goal and Opportunity of Physical Therapy for Children with Down Syndrome, 2001.
  16. 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. (last accessed18 March 2018).
  17. ExtrachromieVeda Balance exercises, Core Strengthening | Veda at therapy | Down Syndrome India Available from: (last accessed 16.11.2019)
  18. Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L., & Reeves, R. H. (2020). Down syndrome. Nature reviews. Disease primers, 6(1), 9.
  19. CSP. What is physiotherapy. 2018. (last accessed 14 April 2018).
  20. Early Intervention Support Available from: (last accessed November 29, 2011)
  21. Shields N, Taylor NF, Dodd KJ. Effects of a community-based progressive resistance training program on muscle performance and physical function in adults with Down syndrome: a randomized controlled trial. Archives of physical medicine and rehabilitation. 2008 Jul 1;89(7):1215-20.

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