Craniocervical Instability in Down Syndrome
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Original Editor - Beth Potter |Catherine Stanislas | Emily Westwood | Laura Beaman
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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
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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]
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]
Official Recommendations
Contraindications
Exercise for Mental Health
Resources[edit | edit source]
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References[edit | edit source]
- ↑ 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.
- ↑ 2.0 2.1 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.
- ↑ 3.0 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.
- ↑ 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.
- ↑ Committee on Sports Medicine and Fitness, 1995. Atlantoaxial instability in Down syndrome: subject review. Pediatrics, 96(1), pp.151-154.
- ↑ 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.
- ↑ 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.
