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Atlantoaxial Instability in Individuals with Down Syndrome: Follow-up

Author: Norberto Alvarez, MD, Assistant Professor, Department of Neurology, Harvard Medical School; Consulting Staff, Department of Neurology, Boston Children's Hospital
Contributor Information and Disclosures

Updated: Dec 8, 2008

Follow-up

Further Inpatient Care

  • Presurgical care
    • In most instances, these patients do not need emergency surgery. The presurgical care is, in general, not different from the care needed for persons who do not have mental retardation.
    • Some factors to be considered: Persons with Down syndrome have a higher incidence of congenital cardiac conditions, hepatitis, and hypothyroidism, and should be evaluated for these conditions before surgery. Emotional and behavioral issues could be complicating factors, mostly in the postoperative period. Explaining the inconveniences associated with major surgery to people with developmental disabilities is always difficult.
  • Postsurgical care
    • Pain should be expected in the postoperative period. In most instances, because of their mental retardation, patients are not able to verbalize their pain, and behavioral changes might be the only indication of pain.
    • Companionship at the bedside is important for these patients. The physician should arrange for this companionship. The ideal situation is to have someone at the bedside 24 h/d, preferably persons who know the patient well.
    • Patients might need to be in bed for many days after the surgery, and deep vein thrombosis (DVT) may be a complication during this period. The caretakers should be instructed in prevention of DVT, such as moving the patient in bed and performing passive exercises of the legs. The rehabilitation should be started as soon as possible. Patients should be encouraged to move, even when in bed.
    • Complications of the surgery, such as postoperative bleeding in the cervical spine, might result in compression of the upper cervical cord. This could lead to motor paralysis that might be very difficult to diagnose in the early stages. In extreme cases, respiratory depression might be a complication.
    • In most instances, a cervical collar is used to stabilize the surgical area. Since most of the patients have some degree of mental retardation, implementation of a cervical collar might require some sedation.

Further Outpatient Care

  • In children who have atlanto-odontoid distance (AAOD) of 3 mm or less, repeating the cervical radiograph is probably unnecessary.
    • These children need clinical follow-up only.
    • Neuroimaging should be pursued only if new neurologic signs arise.
  • No protocol exists for children with AAOD of 3-5 mm.
    • Clinical follow-up and restricting activities that may traumatize the cervical spine (eg, somersaults, contact sports, trampoline exercises) may be all that is needed.
    • Consider repeating the cervical radiograph in 1-2 years.
  • In patients in whom the AAOD is greater than 5 mm, a more complete evaluation with a cervical MRI is recommended. This also applies for children whose PAOD is less than 12 mm.
  • Individuals with radiologic evidence of AAI but no symptoms should have at least a yearly clinical evaluation. Immediate reevaluation is needed if they present with new symptoms.
  • Only a small percentage of children with radiologic evidence of AAI will become symptomatic.
    • The symptoms are often insidious.
    • Quadriplegia is reported occasionally (but rarely) as an initial symptom.
  • Clinical deterioration can be observed after minimal trauma or after acute pharyngeal infections.

Inpatient & Outpatient Medications

  • Analgesics for pain

Transfer

  • Patients are likely to remain in the hospital for at least 1 week, since sending these patients home is difficult; they might require transfer to a rehabilitation hospital.
  • The average stay at the rehabilitation hospital is 1 month.
  • Nursing homes should be avoided since they are usually not equipped for patients with Down syndrome.

Complications

  • The main complication is spinal cord compression.
  • Root compression in the cervical area might be associated with posterior neck and occipital pain.
  • Torticollis may be a sign of subluxation.

Prognosis

  • AAI does not usually produce clinical symptoms.
  • In symptomatic individuals, treatment in the acute phase may reverse the symptoms.
  • In long-standing cases, the surgical procedure is not associated with clinical improvement.

Patient Education

Explain the following to parents and/or legal guardians:

  • Potential problems that could occur
  • The need to impose certain limitations and restrictions
  • The associated ethical issues

Miscellaneous

Medicolegal Pitfalls

  • The early symptoms of subluxation are often subjective and difficult to elucidate in patients with mental retardation. This may result in a delay of diagnosis.
  • Suspect atlantoaxial instability (AAI) in an individual with Down syndrome who presents with decreased motor skills or who develops torticollis, a gait disorder, or any form of progressive paralysis.
  • Although the compression is in the high cervical spine, the first motor symptoms or signs may be discovered in the legs.

Special Concerns

  • Manipulation of the cervical spine is always dangerous in individuals with Down syndrome (even those who are asymptomatic).
  • Relaxation during anesthesia might allow extreme movements of the cervical spine. This should be a concern in any person with Down syndrome who needs general anesthesia; however, children with normal radiographic studies of the cervical spine can tolerate flexion and extension of the cervical spine during anesthesia.39
  • Prior to elective intubations, a cervical spine radiograph series should be performed. Fiberoptic intubation may be desirable in patients with Down syndrome to avoid overmanipulation of the neck.
  • Emergency intubation of people with Down syndrome should be performed with extreme care and minimal manipulation of the neck, mostly if the condition of the AAI is unknown.
  • Physical activities that result in trauma to the cervical spine should be avoided.
 


More on Atlantoaxial Instability in Individuals with Down Syndrome

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Differential Diagnoses & Workup: Atlantoaxial Instability in Individuals with Down Syndrome
Treatment & Medication: Atlantoaxial Instability in Individuals with Down Syndrome
Follow-up: Atlantoaxial Instability in Individuals with Down Syndrome
Multimedia: Atlantoaxial Instability in Individuals with Down Syndrome
References
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Further Reading

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Keywords

atlantoaxial instability, Down syndrome, atlantooccipital joints, atlanto-occipital joints, occipitocervical articulation, AAI, DS, brainstem syndrome

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Contributor Information and Disclosures

Author

Norberto Alvarez, MD, Assistant Professor, Department of Neurology, Harvard Medical School; Consulting Staff, Department of Neurology, Boston Children's Hospital
Norberto Alvarez, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

Michael J Schneck, MD, Associate Professor, Departments of Neurology and Neurosurgery, Stritch School of Medicine, Loyola University; Associate Director, Stroke Program, Director, Neurology Intensive Care Program, Medical Director, Neurosciences ICU, Loyola University Medical Center
Michael J Schneck, MD is a member of the following medical societies: American Academy of Neurology, American Society of Neuroimaging, Neurocritical Care Society, and Stroke Council of the American Heart Association
Disclosure: boehringer-ingelheim Honoraria Speaking and teaching; sanofi/bms Honoraria Speaking and teaching; pfizer Honoraria Speaking and teaching; genentech Honoraria Speaking and teaching; ucb pharma Honoraria Speaking and teaching; talecris Consulting fee Other; nmt medical  Independent contractor; NIH Grant/research funds Independent contractor; vernalis Grant/research funds Independent contractor; sanofi Grant/research funds Independent contractor

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Neurology, Division of Pediatrics, Department of Pediatrics, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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