Craniocervical Instability in Down Syndrome: Difference between revisions

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'''Plain Lateral Radiographs'''  
'''Plain Lateral Radiographs'''  


There is limited evidence to support the use of plain radiography as a screening tool for Asymptomatic AAI. Lateral cervical radiographs can be conducted with the individual in neck flexion, extension and neutral position.  Although, diagnostic criterial for AAI is inconsistent, with AAI being defined by an atlanto-dens interval ranging from 3mm-4.5mm across studies. <ref>Cohen, W.I., 2006, August. Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto‐axial instability. In ''American Journal of Medical Genetics Part C: Seminars in Medical Genetics'' (Vol. 142, No. 3, pp. 141-148). Hoboken: Wiley Subscription Services, Inc., A Wiley Company.</ref> <ref>Roy, M., Baxter, M. and Roy, A., 1990. Atlantoaxial instability in Down syndrome-guidelines for screening and detection. ''Journal of the Royal Society of Medicine'', ''83''(7), pp.433-435.</ref><ref>Selby, K., Newton, R.W., Gupta, S. and Hunt, L., 1991. Clinical predictors and radiological reliability in atlantoaxial subluxation in Down's syndrome. ''Archives of disease in childhood'', ''66''(7), pp.876-878.</ref> . Several authors have concluded that routine screening using lateral radiographs are not necessary due to the variation in diagnostic criteria, technical difficulties conducting the measurements<ref>Cremers, M.J.G., Bol, E., De Roos, F. and Van Gijn, J., 1993. Risk of sports activities in children with Down's syndrome and atlantoaxial instability. ''The Lancet'', ''342''(8870), pp.511-514.</ref>, the likelihood of change in AAI throughout an individuals' life<ref>Morton, R.E., Khan, M.A., Murray-Leslie, C. and Elliott, S., 1995. Atlantoaxial instability in Down's syndrome: a five year follow up study. ''Archives of disease in childhood'', ''72''(2), pp.115-119.</ref> and the occurrence of Symptomatic AAI being extremely rare.<ref name=":3" />
There is limited evidence to support the use of plain radiography as a screening tool for Asymptomatic AAI. Lateral cervical radiographs can be conducted with the individual in neck flexion, extension and neutral position.  Although, diagnostic criterial for AAI is inconsistent, with AAI being defined by an atlanto-dens interval ranging from 3mm-4.5mm across studies. <ref>Cohen, W.I., 2006, August. Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto‐axial instability. In ''American Journal of Medical Genetics Part C: Seminars in Medical Genetics'' (Vol. 142, No. 3, pp. 141-148). Hoboken: Wiley Subscription Services, Inc., A Wiley Company.</ref> <ref>Roy, M., Baxter, M. and Roy, A., 1990. Atlantoaxial instability in Down syndrome-guidelines for screening and detection. ''Journal of the Royal Society of Medicine'', ''83''(7), pp.433-435.</ref><ref>Selby, K., Newton, R.W., Gupta, S. and Hunt, L., 1991. Clinical predictors and radiological reliability in atlantoaxial subluxation in Down's syndrome. ''Archives of disease in childhood'', ''66''(7), pp.876-878.</ref> Several authors have concluded that routine screening using lateral radiographs are not necessary due to the variation in diagnostic criteria, technical difficulties conducting the measurements<ref name=":4">Cremers, M.J.G., Bol, E., De Roos, F. and Van Gijn, J., 1993. Risk of sports activities in children with Down's syndrome and atlantoaxial instability. ''The Lancet'', ''342''(8870), pp.511-514.</ref>, the likelihood of change in AAI throughout an individuals' life<ref>Morton, R.E., Khan, M.A., Murray-Leslie, C. and Elliott, S., 1995. Atlantoaxial instability in Down's syndrome: a five year follow up study. ''Archives of disease in childhood'', ''72''(2), pp.115-119.</ref> and the occurrence of Symptomatic AAI being extremely rare.<ref name=":3" />  
 
From a sport participation screening perspective, Cremers et al. <ref name=":4" /> studied 91 children and young adults (4-20 years old) with Down Syndrome presenting with asymptomatic AAI (>4mm). Participants were randomly assigned to one of two groups. Group one continued with usual sport and exercise and the other group avoided sports deemed 'risky' for a year. Results showed no differences between groups in functional motor scale, neurological signs or Atlantoaxial distance, concluding that pre-participation screening is unnecessary for Asymptomatic AAI. <ref name=":4" />
 
 


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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[edit | edit source]

Plain Lateral Radiographs

There is limited evidence to support the use of plain radiography as a screening tool for Asymptomatic AAI. Lateral cervical radiographs can be conducted with the individual in neck flexion, extension and neutral position. Although, diagnostic criterial for AAI is inconsistent, with AAI being defined by an atlanto-dens interval ranging from 3mm-4.5mm across studies. [8] [9][10] Several authors have concluded that routine screening using lateral radiographs are not necessary due to the variation in diagnostic criteria, technical difficulties conducting the measurements[11], the likelihood of change in AAI throughout an individuals' life[12] and the occurrence of Symptomatic AAI being extremely rare.[5]

From a sport participation screening perspective, Cremers et al. [11] studied 91 children and young adults (4-20 years old) with Down Syndrome presenting with asymptomatic AAI (>4mm). Participants were randomly assigned to one of two groups. Group one continued with usual sport and exercise and the other group avoided sports deemed 'risky' for a year. Results showed no differences between groups in functional motor scale, neurological signs or Atlantoaxial distance, concluding that pre-participation screening is unnecessary for Asymptomatic AAI. [11]


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 with AAI in order to mitigate risk of neurological injury.

Official Recommendations

Contraindications

Exercise for Mental Health

Resources[edit | edit source]

  • bulleted list
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  1. numbered list
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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. ↑ 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. ↑ 5.0 5.1 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.
  8. ↑ Cohen, W.I., 2006, August. Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto‐axial instability. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 142, No. 3, pp. 141-148). Hoboken: Wiley Subscription Services, Inc., A Wiley Company.
  9. ↑ Roy, M., Baxter, M. and Roy, A., 1990. Atlantoaxial instability in Down syndrome-guidelines for screening and detection. Journal of the Royal Society of Medicine, 83(7), pp.433-435.
  10. ↑ Selby, K., Newton, R.W., Gupta, S. and Hunt, L., 1991. Clinical predictors and radiological reliability in atlantoaxial subluxation in Down's syndrome. Archives of disease in childhood, 66(7), pp.876-878.
  11. ↑ 11.0 11.1 11.2 Cremers, M.J.G., Bol, E., De Roos, F. and Van Gijn, J., 1993. Risk of sports activities in children with Down's syndrome and atlantoaxial instability. The Lancet, 342(8870), pp.511-514.
  12. ↑ Morton, R.E., Khan, M.A., Murray-Leslie, C. and Elliott, S., 1995. Atlantoaxial instability in Down's syndrome: a five year follow up study. Archives of disease in childhood, 72(2), pp.115-119.
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