Professional Documents
Culture Documents
Down syndrome
Mark C. Meitzner, CRNA, MSN
Troy, Michigan
Julie A. Skurnowicz, CRNA, MSN
Bloomfield Hills, Michigan
Patients with Down syndrome, or trisomy 21, present a multiple congenital abnormalities in the cardiopulmonary
unique set of anesthetic considerations to anesthesia and musculoskeletal systems.
providers. Down syndrome is the most prevalent genetic The purpose of this review is to describe clinically sig-
disorder worldwide and affects more than 1 in 800 live nificant findings that are common to patients with Down
births. Patients with Down syndrome are afflicted with mul- syndrome. In addition to the presentation of clinical anom-
tiple congenital anomalies that affect almost all of their alies associated with trisomy 21, specific anesthetic con-
siderations and interventions are reviewed.
organ systems. Skillful management during the periopera-
tive period is essential for a good outcome for patients with Key words: Anesthesia, Down syndrome, trisomy 21.
T
risomy 21, also known as Down syndrome, defects, duodenal atresia, atlantoaxial instability
is a genetic disorder that occurs in approxi- (AAI), and subglottic stenosis. The Table gives a sum-
mately 1 of every 800 live births.1 John mary of clinical findings and anesthetic considera-
Langdon Down, a late 19th century English tions. As a consequence of the aforementioned clinical
physician, earned recognition for discover- findings, patients with Down syndrome present a
ing the syndrome because of his scholarly work pub- unique set of considerations and challenges for anes-
lished in 1866 that first offered an accurate descrip- thesia providers.
tion of a person afflicted with the syndrome.2
Currently, Down syndrome affects more than 350,000 Review of the literature
people in the United States.3 Down syndrome repre- An extensive literature review was performed using
sents the most frequent chromosomal abnormality multiple search engines on the Internet, MEDLINE,
and affects people of all ages, races, and economic lev- and CINAHL. We identified potential sources, located
els. The purpose of this review is to describe clinically the references, and screened the references for rele-
significant findings that are common to patients with vancy to anesthetic considerations for patients with
Down syndrome. Down syndrome. Extensive notes were taken, and
inappropriate references were discarded. After all rel-
Pathophysiology evant references were reviewed, the sources were
The normal human cell contains 46 chromosomes; organized, analyzed, and integrated into this review.
however, in Down syndrome, the cell contains 47 The articles were selected for inclusion in the topic
chromosomes with the extra chromosome linked to review if they met one or more of the following crite-
chromosome 21, resulting in trisomy 21.4 Trisomy 21 ria: (1) contained information about Down syndrome,
causes mental retardation in every case, but the degree (2) published in professional medical journals, and
is variable, ranging from severe to mild impairment (3) included information on at least one of the health
with ability for independent living. Substantial litera- problems associated with Down syndrome.
ture exists suggesting potential causative factors for
Down syndrome. Some of the suggested maternal fac- Atlantoaxial instability
tors include age older than 35 years, exposure to pes- Approximately 20% of patients with Down syndrome
ticides and electromagnetic fields, smoking, drinking, have ligamentous laxity of the atlantoaxial joint.5 This
caffeine-containing drinks, thyroid autoimmunity, condition may allow C1-C2 subluxation and predis-
exposure to x-rays, and exposure to anesthetic agents. pose patients with Down syndrome to spinal cord
In addition to the developmental delays associated injury. The potential subluxation of the C1-C2 verte-
with Down syndrome, patients commonly have the brae is the potential result of several causes. Laxity of
following clinical sequelae: microcephaly and macro- the transverse ligament is one of the several causes of
glossia, endocardial cushion defects and ventral septal AAI. Hypoplasia, malformation, and absence of the
SVR indicates systemic vascular resistance; FIO2, fraction of inspired oxygen; ETCO 2, end-tidal carbon dioxide.
odontoid process are other causes that predispose undergo a radiologic evaluation of the cervical spine
patients to the C1-C2 instability.6 before undergoing surgical procedures requiring anes-
In 1984, the American Academy of Pediatrics thesia.5 In addition to neck radiographs, assessing for
issued its first position statement on atlantoaxial excessive laxity of other joints, such as the finger,
instability in Down syndrome.7 This position state- thumb, elbow, and knee, tends to correlate well with
ment suggested that several precautions be taken the presence of atlanto-occipital dislocation.6
when caring for patients with Down syndrome. All In the preoperative period, it is imperative that
children with Down syndrome who want to partici- anesthesia providers be aware of and understand the
pate in sports must have a cervical spine x-ray. When neurologic manifestations of atlantoaxial instability. A
the distance on x-ray between the atlas (first vertebra) focused neurologic assessment accompanied by thor-
and odontoid process (second vertebra) is more than ough documentation of findings on the anesthetic
4.5 mm, restriction on sports is advised. Repeated x- record is a high priority. Although most of the popu-
rays are not indicated for children with Down syn- lation with Down syndrome is asymptomatic with
drome who have previously had normal x-rays. Per- atlantoaxial instability, a small subset of patients has
sons with atlantoaxial subluxation or dislocation and signs and symptoms that anesthesia providers should
neurologic signs should be restricted from all strenu- note. Signs and symptoms of AAI, if present, may
ous activities. Persons with Down syndrome who include a positive Babinski sign, hyperactive deep ten-
have no evidence of AAI may participate in all sports.7 don reflexes, ankle clonus, muscle weakness,
For the aforementioned reasons, maneuvers such increased muscle tone, neck discomfort, abnormal
as positioning the head and neck during anesthetic gait, and difficulty walking.7 Such signs and symp-
management may place the spinal cord at risk if liga- toms often remain relatively stable for months or
mental instability is present. Hence, pediatric radiolo- years; occasionally they progress to paralysis or, rarely,
gists recommend that patients with Down syndrome death.8 In addition to a thorough preoperative assess-