Craniocervical Instability in Down Syndrome

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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 effects between 20-30%[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, Transverse Occipital, Transverse, Accessory Atlanto-axial, Nuchal, Intertransverse, Supraspinous, Interspinous, Anterior Longitudinal, Posterior Longitudinal

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

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Overview of Pathology[edit | edit source]

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

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

Epidemiology[edit | edit source]

Signs & Symptoms[edit | edit source]

Differential Diagnoses[edit | edit source]

Screening[edit | edit source]

Atlanto-occipital instability - lateral radiographic imaging using the Rule of 12 or Harris measurement[3].

Atlanto-axial instability - lateral radiographic imaging

Outcome Measures[edit | edit source]

Examination[edit | edit source]

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

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

Management[edit | edit source]

Surgical

Conservative

Guidelines for Sport[edit | edit source]

Official Recommendations

Contraindications

Exercise for Mental Health

Resources[edit | edit source]

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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. 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. 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.