A 17 year-old male came to clinic for a pre-operative physical examination and assessment.
He needed significant dental work done which required general anesthesia. He had no current complaints.
He had no recent illnesses. He had received all of his health supervision care including appropriate screenings for Down syndrome patients.
There was a note on his chart indicating that the anesthesiologist wanted radiographs of his cervical spine prior to surgery.
He had previous radiographs of his cervical spine which were negative 3 years ago, because he swims, runs track and high jumps in Special Olympics.
The past medical history revealed duodenal atresia repair as an infant without subsequent complications.
He also had one other surgery for dental repair at age 8. He had no problems with anesthesia with either surgery.
He had no cardiac defects.
The review of systems was negative.
The pertinent physical exam revealed a happy male with facial characteristics consistent with Down syndrome. His growth parameters were 75-90% when using Down syndrome growth charts.
HEENT was negative except for rampant dental caries. Lung, heart, abdomen examinations were negative. He was hypotonic and had full range of motion in his neck without eliciting any pain, numbness or tingling.
The diagnosis of rampant dental caries requiring general anesthesia for repair, and no obvious contraindications to general anesthesia at that time was made.
The pediatrician reviewed the guidelines from the American Academy of Pediatrics using the Internet which showed that one set of normal radiographs of the cervical spine was adequate and that another set was unnecessary.
He also reviewed the requirements for Special Olympics participation. The pediatrician contacted the anesthesiologist who agreed that additional radiographs were unnecessary.
Three days later the patient had successful dental surgery and tolerated the anesthesia without problems.
Down syndrome is the most common autosomal chromosome abnormality and is caused by Trisomy 21.
Problems that are particularly common in patients with Down syndrome include:
- Cardiac – congenital heart disease (~40%)
- Atrioventricular canal
- Ventricular septal defects
- Duodenal atresia
- Gastroesophageal reflux
- Hirschsprung disease
- Growth problems
- Congenital cataracts
- Refractive errors
- Otitis media
- Atlantoaxial instability or subluxation
- Primary pulmonary hypertension
- Obstructive sleep apnea
- Developmental delay
- Hearing impairment
- Memory disfunction
- Mental retardation
The atlantooccipital joint is formed by the occiput, C1 (atlas) and C2 (axis) and the strong ligaments surrounding them which allows movement of the head. The normal spacing between C1 and C2 is 3 millimeters in adults and 5 millimeters in children.
In atlantoaxial instability, the spacing increases causing pressure from the bones onto the spinal cord which produces clinical symptoms of spinal cord compression. The most common abnormality in Down syndrome patients is to have excess laxity of the posterior transverse ligament (attaches the odontoid bone to C1) which increases the spacing.
Atlantoaxial instability has been reported in 10-30% of patients with Down syndrome.
Longitudinal studies of patients with Down syndrome show a high degree of stability both radiographically and clinically. Therefore, serial radiographs are not recommended unless there is another clinical indication to perform the radiographs.
The American Academy of Pediatrics recommends one set of screening radiographs at ages 3-5 years. The Academy notes that “The need for these studies has been questioned, but they may be required for participation in the Special Olympics. These studies are more important for children who may participate in contact sports and are indicated in those who are symptomatic.”Special Olympics places a restriction on athletes in certain sports at risk for neck injury until one set of cervical radiographs are shown to be negative.
Lateral radiographs of the cervical spine when performed, are obtained in the flexion, extension and neutral positions.
Questions for Further Discussion
1. Describe the phenotypic pattern of Down syndrome?
2. What is the current guidelines for prenatal evaluation for Down syndrome?
3. What are the eligibility requirements for Special Olympics participation?
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
Information prescriptions for patients can be found at MedlinePlus for this topic: Down syndrome
and at Pediatric Common Questions, Quick Answers for this topic: Down syndrome.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
Special Olympics. Participation by Individuals with Down syndrome Who Have Atlantoaxial Instability. Available from the Internet at: http://www.specialolympics.org/special+olympics+public+website/english/coach/coaching_guides/basics+of+
special+olympics/down+syndrome+and+restrictions+based+on+atlantoaxial+instability.htm (cited 6/14/07).
American Academy of Pediatrics. Health Supervision for Children with Down syndrome. Pediatrics . 2001:107(Feb.) Available from the Internet at: http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442.pdf (rev. 02/2001, cited 6/14/2007).
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:732-734.
Alvarez, N. Atlantoaxial Instability in Individuals with Down syndrome. eMedicine.
Available from the Internet at http://www.emedicine.com/neuro/topic554.htm (rev. 10/11/2006, cited 6/14/2007).
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
5. Patients and their families are counseled and educated.
6. Information technology to support patient care decisions and patient education is used.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
20. Respect, compassion, and integrity; a responsiveness to the needs of patients and society that supercedes self-interest; accountability to patients, society, and the profession; and a commitment to excellence and on-going professional development are demonstrated.
22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.
23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.
Donna M. D’Alessandro, MD
Professor of Pediatrics, Children’s Hospital of Iowa
August 6, 2007