Craniocervical Instability in Down Syndrome: Difference between revisions

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===Atlanto-axial Instability in Down Syndrome===
===Atlanto-axial Instability in Down Syndrome===
AAI occurs as a result of increased movement at the Atlantoaxial joint (the atlas and axis joint articulation).<ref>Committee on Sports Medicine and Fitness, 1995. Atlantoaxial instability in Down syndrome: subject review. ''Pediatrics'', ''96''(1), pp.151-154.</ref> The instability arises from bony abnormalities and ligament laxity of the Atlantoaxial joint.<ref>Tomlinson, C., Campbell, A., Hurley, A., Fenton, E. and Heron, N., 2020. Sport preparticipation screening for asymptomatic atlantoaxial instability in patients with Down syndrome. ''Clinical Journal of Sport Medicine'', ''30''(4), pp.293-295.</ref>
AAI occurs as a result of increased movement at the Atlantoaxial joint (the atlas and axis joint articulation).<ref>Committee on Sports Medicine and Fitness, 1995. Atlantoaxial instability in Down syndrome: subject review. ''Pediatrics'', ''96''(1), pp.151-154.</ref> The instability arises from bony abnormalities and ligament laxity of the Atlantoaxial joint.<ref name=":2">Tomlinson, C., Campbell, A., Hurley, A., Fenton, E. and Heron, N., 2020. Sport preparticipation screening for asymptomatic atlantoaxial instability in patients with Down syndrome. ''Clinical Journal of Sport Medicine'', ''30''(4), pp.293-295.</ref>


==Signs & Symptoms==
==Signs & Symptoms==
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==Guidelines for Sport==
==Guidelines for Sport==
Sport and physical activity are highly beneficial for people with Down Syndrome in regards to biological, psychological and social spheres. <ref name=":2" />Although the risk of damage to the spinal cord in individuals with AAI during sport is extremely rare<ref name=":1" />, precaution must be taken when advising or prescribing exercise to people with Down Syndrome in order to mitigate risk of neurological injury.
'''Official Recommendations'''
'''Official Recommendations'''



Revision as of 13:17, 12 May 2021

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Introduction[edit | edit source]

Down Syndrome, also known as Trisomy 21, is a condition caused by the presence of an extra chromosome (chromosome 21) which results in atypical physical and cognitive development. Down Syndrome occurs in approximately every 1 in 700 births.[1] Within this population Occipito-axial instability effects approximately [X]%, whilst Atlanto-axial Instability (AAI) effects between 6.8-30%.[2][3][4] Less than 1-2% of people living with Down Syndrome who have AAI later develop symptomatic AAI.[3] Symptomatic AAI is occurs as a result of excessive cervical movement impinging on the spinal cord, with a risk of severe neurological damage if untreated .[2]

Clinically Relevant Anatomy[edit | edit source]

Bones: Occiput (inferior aspect of the skull), Atlas (C1), Axis (C2), C3-C7

Joints: Atlanto-occipital (C0/C1) & Atlanto-axial (C1/C2)

Ligaments:Apical, Alar, Nuchal, Supraspinous, Interspinous, Anterior Longitudinal, Posterior Longitudinal, Transverse Occipital, Transverse, Intertransverse, Accessory Atlanto-axial.

Muscles: Longus Capitis, Rectus Capitis Anterior, Rectus Capitis Lateralis, Longus Colli, Scalenes (anterior, middle, posterior), Splenius Capitis, Splenius Cervicis, Upper Trapezius, Levator Scapulae

[ADD DIAGRAM/PICTURE]

Overview of Pathology[edit | edit source]

Occipito-axial Instability in Down Syndrome[edit | edit source]

Atlanto-axial Instability in Down Syndrome[edit | edit source]

AAI occurs as a result of increased movement at the Atlantoaxial joint (the atlas and axis joint articulation).[5] The instability arises from bony abnormalities and ligament laxity of the Atlantoaxial joint.[6]

Signs & Symptoms[edit | edit source]

Differential Diagnoses[edit | edit source]

Examination and Screening[edit | edit source]

Atlanto-occipital instability - lateral radiographic imaging using the Rule of 12 or Harris measurement[7].

Atlanto-axial instability - lateral radiographic imaging

https://www.youtube.com/watch?v=pj-8cAkFYiA

https://www.youtube.com/watch?v=9mbXER7QtNM

Outcome Measures[edit | edit source]

Management[edit | edit source]

Surgical

Conservative

Guidelines for Sport[edit | edit source]

Sport and physical activity are highly beneficial for people with Down Syndrome in regards to biological, psychological and social spheres. [6]Although the risk of damage to the spinal cord in individuals with AAI during sport is extremely rare[2], precaution must be taken when advising or prescribing exercise to people with Down Syndrome in order to mitigate risk of neurological injury.

Official Recommendations

Contraindications

Exercise for Mental Health

Resources[edit | edit source]

  • bulleted list
  • x

or

  1. numbered list
  2. x

References[edit | edit source]

  1. Mai, C. T., Isenburg, J. L., Canfield, M. A., Meyer, R. E., Correa, A., Alverson, C. J., Lupo, P. J., Riehle-Colarusso, T., Cho, S. J., Aggarwal, D., Kirby, R. S., National Birth Defects Prevention Network, (2019). National population-based estimates for major birth defects, 2010-2014. Birth defects research, 111(18), pp.1420–1435.
  2. 2.0 2.1 2.2 Nakamura, N., Inaba, Y., Aota, Y., Oba, M., Machida, J., N. Aida, Kurosawa, K., Saito, T, (2016). New radiological parameters for the assessment of atlantoaxial instability in children with Down syndrome. The Bone & Joint Journal, 98-B(12), pp.1704-1710.
  3. 3.0 3.1 Nader-Sepahi, A., Casey, A.T., Hayward, R., Crockard, H.A. and Thompson, D., 2005. Symptomatic atlantoaxial instability in Down syndrome. Journal of Neurosurgery: Pediatrics, 103(3), pp.231-237.
  4. Myśliwiec, A., Posłuszny, A., Saulicz, E., Doroniewicz, I., Linek, P., Wolny, T., Knapik, A., Rottermund, J., Żmijewski, P. and Cieszczyk, P., 2015. Atlanto-axial instability in people with Down’s syndrome and its impact on the ability to perform sports activities–a review. Journal of human kinetics, 48, p.17.
  5. Committee on Sports Medicine and Fitness, 1995. Atlantoaxial instability in Down syndrome: subject review. Pediatrics, 96(1), pp.151-154.
  6. 6.0 6.1 Tomlinson, C., Campbell, A., Hurley, A., Fenton, E. and Heron, N., 2020. Sport preparticipation screening for asymptomatic atlantoaxial instability in patients with Down syndrome. Clinical Journal of Sport Medicine, 30(4), pp.293-295.
  7. El-Khouri, M., Mourão, M., Tobo, A., Battistella, L., Herrero, C., Riberto, M, (2014). Prevalence of Atlanto-Occipital and Atlantoaxial Instability in Adults with Down Syndrome. World Neurosurgery, 82(1-2), pp.215-218.