Introduction

DS, otherwise known as trisomy 21, is the most common chromosomal condition in the United States, occurring in 1 in 700 infants, or approximately 5400 of nearly 4 million infants born yearly. It is caused by the inheritance of an additional chromosome 21.

Several important conditions are associated with DS, including CHD and gastrointestinal malformations, such as duodenal atresia, annular pancreas, and Hirschsprung disease. Other conditions associated with DS include polydactyly, cleft palate, and cataracts. Due to major and minor malformations related to DS, patients with DS frequently present for diagnostic and/or surgical procedures that require anesthesia. Anesthetic considerations unique to DS are reviewed by organ system. Fig. 1 demonstrates associated defects in DS.

Associated defects of DS. ASD, atrial septal defect; AV, Atrioventricular; TOF, tetralogy of Fallot; URI, upper respiratory infection; VSD, ventricular septal defect.

( From Landis BJ, Lisi MT. Syndromes, Genetics and Heritable Heart Disease. In: Critical Heart Disease in Infants and Children, 3 ^rd edition. Philadelphia: Elsevier; 2019. p. 893-894; with permission.)

Cervical Instability

Although DS patients are known to have the potential for cervical spine instability, predicting the likelihood of instability is difficult and the incidence is diverse. The American Academy of Pediatrics previously recommended 1 set of lateral cervical spine radiographs for children between 3 years and 5 years of age, but current guidelines no longer recommend routine cervical spine radiographs for asymptomatic children with DS. It is estimated that although only 1% to 2% actually show significant symptoms of cervical spine instability, the frequency of separation of the odontoid process from the body of the axis, which could contribute to instability, may be as high as 6%.

All children with DS should be treated as having the potential for an acute dislocation and should receive a basic neurologic examination to assure equal motion and strength. Repeat assessment postoperatively also is important. Special consideration should be given to positioning during intubation and surgery. It may be prudent to forego the shoulder roll and make sure the intubation occurs with in-line cervical stabilization. Instead of turning the neck to access the side of the head or ear, the operating room table can be airplaned to the appropriate position. There also is an increased incidence and severity of degenerative changes at higher spinal levels with increasing age. This is an important concern in adult DS patients.

Cardiac Considerations

Upper Airway Obstruction

Individuals with DS have both anatomic and functional airway abnormalities, which can include a flattened nasal bridge, macroglossia, midface hypoplasia, adenotonsillar hypertrophy, soft palate hyperplasia, tracheal and congenital subglottic stenosis, and airway malacia. In addition, they may have pharyngeal muscle hypotonia, increased secretions, and frequent respiratory infections. All these factors contribute to upper airway obstruction and, as a result, patients with DS tend to have multiple sites of airway obstruction. Unfortunately, this means that even after surgical procedures to address upper airway obstruction, they may continue to have residual obstruction that can contribute to the development of pulmonary hypertension or complications during emergence from anesthesia. Obesity, more common in this population, can also involve soft tissues of the upper airway, which affects ventilation and oxygenation during and after anesthesia. One study found that by age 5, 79% of DS patients either had current symptoms of airway obstruction or had undergone an adenotonsillectomy. The prevalence of obstructive sleep apnea on polysomnogram in this population was 57%.

Although most patients with DS have some degree of subglottic stenosis, a study found that only around 6% are symptomatic. Subglottic stenosis may be from previous intubations or may be congenital. Because these patients are at risk for postextubation stridor, it may be prudent to use a smaller endotracheal tube than predicted. A laryngeal mask airway (LMA) should be considered for shorter procedures.

Hematologic/Immunologic Disturbances

DS is associated with a large spectrum of hematologic findings and typically these vary over time. During the second trimester, there is dysmegakaryopoiesis and dyserythropoiesis, with an increase of megakaryocyte-erythrocyte progenitors in the liver. This can lead to abnormalities, such as neutrophilia (80%), thrombocytopenia (66%), and polycythemia (33%), in neonates. This typically regresses within a week. A complete blood cell count, which should be drawn prior to surgery, identifies these issues.

Approximately 3% to 10% of neonates have a transient myeloproliferative disorder (TMD), also known as transient megakaryoblastic leukemia. Clinical presentation can vary from being asymptomatic to hepatosplenomegaly to bleeding/petechias and effusions (hydrops fetalis, ascites, and pleural and pericardial effusions). It usually resolves in the first 3 months, although death is reported in 15% to 20% of cases. One institution has proposed a peripheral blood smear at approximately 2 months of life or if the infant displays symptoms of TMD or leukemia. Significant cytopenias or peripheral blasts may require a bone marrow examination prior to any elective surgery. Severely increased white blood cell count can increase the risk of thrombosis and stroke. Plasmapheresis may be utilized if the white blood cell count is over 125,000/μL. Decreased blood counts can produce anemia and/or thrombocytopenia and may require red blood cell and/or platelet transfusion.

DS patients are at a 10-times to 20-times increased risk of developing acute lymphoblastic leukemia compared with non-DS patients. There is a 150-times increased risk of myeloid leukemia for patients below 5 years old compared with non-DS patients. These patients may have procedures such as line placements or chemotherapy treatments under anesthesia.

DS patients also have a higher frequency of infections, usually in the upper respiratory tract, characterized by increased severity and prolonged disease course, which are partially attributed to immune system defects. This decrease in immunity is associated with mild to moderate T-cell and B-cell lymphopenia, marked decrease of naïve lymphocytes, impaired mitogen-induced T-cell proliferation, reduced specific antibody responses to immunizations, and defects of neutrophil chemotaxis. Nonimmune factors, such as abnormal airway and ear anatomy and the inability to clear secretions, also may be contributing factors to the high frequency of upper respiratory tract infections.

Endocrinological Issues

Autoimmune conditions are prevalent in DS patients. Autoimmune thyroiditis is the most frequent disorder, affecting approximately 39% of adult patients with DS. Abnormalities in clinical and subclinical thyroid function are frequent and increase with age. Although hypothyroidism occurs in the highest frequency, hyperthyroidism also is possible, emphasizing the need for yearly thyroid surveillance. Because thyroid hormone abnormalities can have an impact on cardiac function, thyroid screening also should be performed as part of the preoperative evaluation if not already done. Abnormalities should receive adequate treatment and the patient should be euthyroid at the time of any nonemergent procedure.

Other autoimmune conditions that may affect DS patients include hemolytic anemia and celiac-like enteropathy.

Behavioral/Psychological Considerations

Currently, the average life expectancy of a DS patient is approximately 60 years old. In 1947, the life expectancy was 12 years old. With this longer life expectancy comes an increasing number of adult DS patients presenting for procedures under anesthesia. They have not only developmental delay but also higher rates of dementia, autism, attention-deficit/hyperactivity disorder, and depression compared to the rest of the population. With these potential behavioral issues comes the concern of inducing anesthesia for these patients as safely as possible (for both patient and medical personnel), while also decreasing the patient’s anxiety. Parental presence has not been shown to improve preoperative anxiety but, in this case, may improve a patient’s compliance on induction. Various pharmacologic interventions, such as midazolam (oral or intranasal), dexmedetomidine (intranasal), and ketamine (oral or IM), have been used. Some pharmacologic agents, such as midazolam, may worsen airway obstruction and should be used judiciously, especially if a patient has obstructive sleep apnea or adenotonsillar hypertrophy. Options, such as midazolam and dexmedetomidine, may allow a patient to undergo an inhalation induction more easily. Sevoflurane, however, can cause bradycardia and airway obstruction, and inhalational induction of anesthesia is prolonged in larger patients. Therefore, an IV induction of anesthesia may be preferable. IM injection of ketamine may induce a faster and more profound response, allowing IV access to be obtained. The patient may recall the IM administration, however, and then have increased anxiety for future medical visits. For larger patients who may have a more aggressive personality, the use of either a ketamine IM injection or inhalational induction without previous premedication may be dangerous for the staff involved. There is no single clear best approach; each case must be individually considered according to the patient size, cardiac and/or airway pathophysiology, and psychological condition. The anesthetic approach to individual patients also should utilize their known support systems, along with the knowledge of what has worked for them in the past. Studies to better understand passive and interactive distraction to improve induction for these patients are ongoing.

Introduction

1 to 2 in 1000 children in the United States are born with cleft lip and cleft palate. The incidence is estimated to be 1 per 500 to 700 births worldwide, with the ratio varying considerably across geographic areas or ethnic grouping. It can be unilateral or bilateral and affects boys more than girls. Causes are multifactorial, with both environmental and genetic causes contributing.

Cleft lip and palate are associated with many syndromes. Some of the associated syndromes are illustrated in Tables 1 and 2 . ^, Identification of syndromes prior to delivering anesthesia is important because many of these associated syndromes are associated with difficult tracheal intubation.

Table 2

Multiple malformation syndromes associated with cleft palate and features with possible anesthetic implications

Adapted from Arosarena OA. Cleft lip and palate. Otolaryngol Clin North Am. 2007;40(1):27-60, vi. and Baum VC, O’Flaherty JE. Anesthesia for Genetic, Metabolic, & Dysmorphic Syndromes of Childhood, 3 ^rd edition. Philadelphia: Walters Kluwer; 2015; with permission.

Genetic Disorders	Possible Features with Anesthetic Implications
Down syndrome	See DS section of this article.
Prader-Willi syndrome	• Morbid obesity and risk of OSA • Rumination—high-risk gastric aspiration • Insatiable hunger and hypoglycemia at approximately 1 y of age • Non-insulin dependent diabetes mellitus as adolescent/adult
Campomelic dysplasia	• Micrognathia, short neck—possible difficult intubation • May require smaller than expected endotracheal tube • Cervical vertebral anomalies and unstable cervical spine • Possible respiratory insufficiency and risk of perioperative apnea • Possible hydronephrosis and renal dysfunction • Tracheobronchomalacia and airway obstruction
Stickler syndrome	• Micrognathia—possible difficult intubation • Joint laxity and arthritis—careful positioning • Glaucoma—avoid anticholinergic medications
Holoprosencephaly sequence	• Oral/midline facial defects—nasal defects, absence of philtrum/labial frenulum, cleft lip and palate—possible difficult mask ventilation and intubation • Seizures • Perioperative temperature instability • Hypernatremia—subclinical diabetes insipidus
Cornelia de Lange syndrome	• Severe mental and motor delay—possible autistic, self-destructive behavior • Micrognathia, high-arched palate, short neck—possible difficult intubation • Possible choanal atresia • High risk for pulmonary aspiration—high incidence of gastroesophageal reflux • Risk of apnea in infancy • CHD—VSD, valvular pulmonary stenosis • Micromelia—possible difficult vascular access • Flexion contractures—careful positioning
Spondyloepiphyseal dysplasia congenita	• Short neck and limited flexion—possible difficult intubation • Cervical spine instability • Small stature—possible smaller than expected endotracheal tube • Restrictive lung disease • Limited joint mobility—careful positioning
Treacher Collins syndrome	• Severe mandibular hypoplasia, small mouth, narrow airway—difficult intubation • Laryngoscopy often becomes more difficult with aging. • OSA
22q deletion syndromes (DiGeorge syndrome, Shprintzen syndrome, and CHARGE association)	Refer to Table 1 .
Diastrophic dysplasia	• Laryngotracheobronchomalacia or laryngotracheal stenosis—airway obstruction • May require smaller endotracheal tube • Micrognathia—possible difficult intubation • Restrictive lung disease • Risk for subluxation at C2-3 and baseline cord compression—avoid hyperextension • Limited joint mobility—careful positioning
Orofaciodigital syndrome type I	• Dental abnormalities • Choanal atresia • Small mandible—possible difficult intubation
Otopalatodigital syndrome type I	• Dental abnormalities • Small mouth, micrognathia—possible difficult intubation
Nager syndrome	• Small mouth, micrognathia, hypoplasia of the larynx–difficult intubation • Choanal atresia • Limb abnormalities—difficult arterial/IV access
Smith-Lemli-Opitz syndrome	• Dysmorphic facial features and micrognathia—possible difficult intubation • Increased risk for perioperative aspiration (reflux and vomiting) • CLD • Behavior problems, including autism • TOF and VSD
Apert syndrome	• Small nasopharynx, choanal atresia/stenosis, tracheal stenosis, abnormal cartilage—possible difficult intubation • Cervical anomalies, including fusion • OSA • Eye protection for proptosis • Possible elevated intracranial pressure • CHD—pulmonary stenosis, overriding aorta, VSD • Possible genitourinary anomalies—polycystic kidneys, hydronephrosis, bicornuate uterus, vaginal atresia, cryptorchidism
Marfan syndrome	• Aortic or pulmonary artery dilatation, aortic dissection, aortic insufficiency, mitral prolapse • Risk for aortic dissection—avoid hypertension • Development of medial necrosis in coronary arteries • Pulmonary blebs with risk of pneumothoraces • OSA from pharyngeal laxity • Joint laxity—careful positioning • Dural ectasia—inadequate spread of spinal anesthesia • Glaucoma
Turner syndrome	• Short webbed neck—possible difficult intubation and short tracheal lengths • Hypothyroidism • Coarctation of aorta and bicuspid aortic valve • At risk for aortic dissection • Hypertension
Cleidocranial dysostosis	• Hypoplasia/aplasia of clavicles—alters subclavian artery/vein/plexus landmarks • Vertebral abnormalities—difficult neuraxial techniques • Narrow thoracic cage—decreased perioperative respiratory reserve • Dental abnormalities—predisposition to loss • Joint laxity and fragile bones—careful positioning

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