1. Anesthetic Considerations for Children with Down Syndrome
05/27/2014
Keith Butts, Brown MD ’15

2. Preliminary Questions:
1. The chromosomal abnormality in Down’s syndrome is: A. Trisomy 18 B. Trisomy 21 C. 47 XXY D. Monosomy X 2. The most common congenital cardiovascular abnormality in Down’s syndrome is: A. Patent ductus arteriosus B. Coarctation of aorta C. Tetralogy of Fallot D. Atrioventricular septal defect
1. Melarkode. ATOTW 139. Anaesthesia for children with Down’s syndrome. FRCA.Co.UK. Accessed 05/2014.

3. 3. A smaller tracheal tube may be required in Down’s syndrome due to: A. Inadequate mouth opening B. Sub-glottic stenosis C. Cleft palate D. Micrognathia 4. Lateral view neck radiograph is helpful in Down’s syndrome to detect: A. Enlarged and swollen epiglottis B. Subluxation at the C6-C7 joint C. Atlantoaxial subluxation D. Sub-glottic stenosis
2. Melarkode. ATOTW 139. Anaesthesia for children with Down’s syndrome. FRCA.Co.UK. Accessed 05/2014.

4. Down’s Syndrome Basics
Down’s syndrome is also referred to as Trisomy 21 due to the presence of an extra copy of chromosome number 21.
Down’s syndrome is the most common chromosomal abnormality and it has an incidence of 1.5 per 1000 live births. 3
Most patients are mildly to moderately intellectually disabled, with IQ in the 50 to 70 or 35 to 50 range, respectively, although some are severely impaired with IQ 20 to 35.4
A 20 year-old mother has a risk of about 1 in 2000 while a 35 year-old mother has an estimated risk of 1 in 400. The risk increases to 1 in 40 at 45
years of age (4).
This syndrome affects many organ systems, and there is impaired global development.
Many of these problems have significance for the anaesthetist.
3.Carvalho B. Down’s syndrome p In: Oxford Handbook of Anaesthesia. Ed: Allman KG, Wilson IH
Oxford University Press 2003
4. Roizen MF. Anesthetic Implications of Concurrent Diseases. p974 In: Anesthesia Ed: Miller RD. Churchill
Livingstone th edition.

5. General Appearance: Particularly relevant defining features include:
Small for age
Lax joints
Generalized hypotonia
Midface hypoplasia
Large, protruding tongue
Midface hypoplasia, poor tone, and macroglossia predispose Down Syndrome pts to upper airway obstruction. A laryngeal mask airway may serve well to assist with ventilation and as a conduit for intubation. Intubating laryngeal mask airway devices such as the Air-Q now exist in pediatric sizes that accommodate most neonates and infants. Direct laryngoscopy is generally difficult regardless of blade type. Alternative means for visualizing the vocal cords such as traditional fiberscope, videolaryngoscope, and optical laryngoscope must be prepared and ready for use from the outset.

6. Cardiovascular System:
50% of children with down syndrome have a congenital heart malformation. • Atrioventricular septal defects (20%) • Ventricular septal defects (14%) • Pulmonary vascular disease
Congenital heart defects are common (40-50% of patients) and atrioventricular defects have a particular
association with Down’s syndrome (70% of AVSD cases). Pulmonary vascular disease may occur due to
Eisenmenger’s syndrome and unrepaired cardiac lesion such as AVSD where reversal of the left to right shunt
leads to cyanosis and is associated with high mortality under anaesthesia. Pulmonary vascular disease may also
occur in the absence of cardiac lesions secondary to chronic hypoxaemia due to repeated pulmonary infections,
hypoventilation due to muscle hypotonia and obstructive sleep apnoea.
5. Borland LM, Colligan J and Brandom BW. Frequency of anaesthesia-related complications in children with Down’s syndrome under general anaesthesia for non-cardiac procedures. Pediatric Anesthesia 2004; 14:

7. Respiratory System:
• Sub-glottic stenosis • Enlarged tongue • Enlarged tonsils and adenoids • Obstructive sleep apnea • Recurrent respiratory tract infections
Upper and lower respiratory problems are frequent in this subset of the population. Lower airway problems have been linked to hypotonia, relative obesity, small upper airways, small lower airways, and a degree of pulmonary hypoplasia.
Congenital anomalies of the lower airways are common and are strongly linked with cardiovascular anomalies. The anomalies of the lower airways include stenotic anomalies, anomalies that cause airway collapse, tracheoesophageal fistula, and branching anomalies.
1. Melarkode. ATOTW 139. Anaesthesia for children with Down’s syndrome. FRCA.Co.UK. Accessed 05/2014.

8. Skeletal System:
• Atlanto-axial instability: This is seen in about 15% of patients. • Spinal cord compression is seen in 2% of children. There may also be laxity of other joints (finger, thumb, elbow or knee).
The presence of atlantoaxial instability may not be apparent, because most patients are asymptomatic. The parents should be questioned specifically about symptoms suggestive of atlantoaxial subluxation, such as neck pain, head tilt, and abnormal gait. Older infants and toddlers can be observed for poor head control, passive limited neck range of motion, and signs and symptoms of upper motor neuron dysfunction (spasticity, hyperreflexia, clonus). Symptoms will be present when the atlas moves far enough forward to narrow the spinal canal and impinge on the spinal cord. This happens in Down Syndrome because the transverse ligament is lax.
6. Mik G, Gholve PA, Scher DM et al. Down syndrome: orthopaedic issues. Current Opinion in Pediatrics 2008: 20; 30-36

9. Gastrointestinal
• Duodenal atresia is 300 times more common than in the general population • Gastro-esophageal reflux • Tracheoesophageal fistula • Hirschsprung disease
Dudenal atresia, GERD, and TEA can be associated with greater risk of aspiration, and Hirschsprung’s disease can be associated with central apnea.

10. Translating Knowledge into Action: Peri-operative Management
Children with Down’s syndrome are generally gentle, cheerful and outgoing, but they may have a tendency
towards hyperactivity, and will have limited understanding compared to normal children of their age. It is best
to conduct the pre-anaesthetic visit when the parent or carer is with the child. The anaesthetist should try to
explain (to the child) what is going to happen in a language appropriate to the child; the presence of the parent
or carer will be greatly reassuring for the child. It is important that the parent has a clear explanation of the
anaesthetic procedure and what to expect. Play therapists may also have a role to ensure smooth induction of
anaesthesia.

11. Cardiovascular Considerations:
Structural heart disease in children with Down’s syndrome is common and there should be a high index of suspicion. A detailed cardiovascular examination, ECG, and ideally a cardiology opinion and echocardiography should be obtained in all children with Down’s syndrome before proceeding with surgery. The characteristics of pathological murmurs are: • All murmurs associated with cardiac signs or symptoms • All pansystolic and diastolic murmurs • Late systolic murmurs • Loud murmurs, those associated with a thrill, or continuous murmurs
Symptoms suggestive of congenital heart disease include failure to thrive, breathlessness and fatigue on exertion, or unexplained ‘funny turns’. Important signs include central cyanosis, finger clubbing, respiratory distress, signs of cardiomegaly with displaced cardiac apex, hepatomegaly or the presence of a heart murmur, possibly with associated ‘thrill’ (palpable murmur).

12. Respiratory Considerations:
A thorough examination of the respiratory system and airway is necessary to rule out a difficult airway or intubation.
It is essential to:
Elicit history of severe OSA, +/- obtain polysomnography
Examine tonsillar/adenoid size
Evaluate airway structure.
*A smaller tracheal tube may be needed due to sub-glottic stenosis.
Macroglossia compounded by potential micrognathia and midface hypoplasia predispose these children to rapid airway obstruction and hypoxemia with induction of anesthesia. Oral airways should always be available to help in reestablishing airway patency. These children are also at a higher risk for developing postintubation croup because they tend to have a smaller absolute subglottic airway diameter. Therefore, children with Down’s syndrome should be intubated with a smaller endotracheal tube than predicted for age. As in all children, an air leak at or below a pressure of 25 cm H2O must be demonstrated.
7. Doull. Respiratory disorders in Down's syndrome: overview witb diagnostic and treatment options. UK Down's Syndrome Medical Interest Group website. April Available at

13. Skeletal Considerations
Atlanto-axial instability is seen in 15% of children with Down’s syndrome!
Cervical spine radiography should be performed before an elective case if:
There are signs and symptoms suggestive of cervical cord compression (loss of motor skills, loss of bowel or bladder control, neck pain, neck stiffness)
If a difficult laryngoscopy is anticipated
If the surgery requires that the neck be placed in a non-neutral position
Care of the neck during laryngoscopy and intubation is necessary. Avoid forceful flexion and extension of the neck.
If cervical spine radiography is not done in an asymptomatic Down’s syndrome patient, then the goal should be to keep the head and neck in a neutral position. Of note, children do not have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine until at least three years of age.

14. Pre-operative consultation
The preoperative program (POP) gives families the opportunity to visit Hasbro Children's Hospital several days prior to surgery. In some cases, individual preoperative evaluation may be advised.
Preoperative anesthesia consultation should allow for both evaluation of a child's medical history and individual risk factors and also the ability to discern a patient's personality and likely response to stress.

15. Intra-Operative Considerations
Routine monitoring should be used as for any other case, special considerations include:
Children with Down’s syndrome are prone to infection; however, routine antibiotic prophylaxis against infective endocarditis is no longer recommended for patients undergoing surgeries that would not otherwise warrant it.9
Sensitivity to atropine has been reported in patients with Down’s syndrome.10
Complications under general anesthesia may include bradycardia (3.66%), bronchospasm (0.43%) and hypotension.11
Significant bradycardia occurs with inhaled sevoflurane induction in up to 50% of children with Down’s syndrome regardless of the presence or absence of co-existing congenital heart disease. It has been speculated that these children have ultrastructural myocardial defects that predispose them to conduction abnormalities. Anticholinergics (atropine, glycopyrrolate) should be immediately available in the appropriate weight-based doses. Increased sensitivity to atropine is occasionally seen, manifesting as mydriasis and profound tachycardia.
9. Prophylaxis against infective endocarditis. NICE guidelines, March 2008.
10. Roizen MF. Anesthetic Implications of Concurrent Diseases. p974 In: Anesthesia Ed: Miller RD. Churchill Livingstone th edition
11. Borland LM, Colligan J and Brandom BW. Frequency of anaesthesia-related complications in children with Down’s syndrome under general anaesthesia for non-cardiac procedures. Pediatric Anesthesia 2004; 14:

16. Peri-Operative Considerations
Patients should be observed closely in the recovery room until full recovery from anaesthesia. The presence of parents/caregivers can help to avoid disturbances in the postoperative period.
Hypotonia may affect the ability to maintain airway.
If atlanto-axial instability is suspected or present, only the jaw thrust maneuver should be used.
Use of airway adjuncts (oropharyngeal or nasopharyngeal airway) may be helpful.
Adequate analgesia should be prescribed, they may not be able to express pain or discomfort due to their disability.
Patients must be closely observed for obstructive symptoms and hypoventilation in the postoperative period given the high incidence of obstructive sleep apnea and obesity.

17. Case: History
A four year-old child with Down’s syndrome presents to the Preoperative Program for bilateral myringotomy.
Endorses + hx of recurrent ear infections and snoring at night.
Endorses + hx of heart murmur, but has received no formal investigation.
No hx of breathlessness, sweatiness, cyanosis or blue spells.
No hx of neck pain, neck stiffness, loss of motor skills, or loss of bowel or bladder control.
No medication and no known allergies.
No anesthetic or family history.

18. Case Summary: Exam
On examination, the child weighs 20kg, with typical features of Down syndrome.
The airway is unremarkable but she is noted to be a mouth breather and he has a large tongue.
She is not clinically anemic and there is no cyanosis or clubbing.
On auscultation, there is a moderately loud, grade 3/6 pan-systolic murmur heard best at the left sternal edge.
There is no respiratory distress, the oxygen saturation is 100% in air, respiratory rate is 20/min and the lung fields are clear to auscultation.
A cardiology opinion is sought and echocardiography reveals the presence of a small (restrictive) VSD with left to right shunt. The pulmonary artery pressures are normal with good biventricular function.

19. Day of procedure:
The child was co-operative and calm in the presence of parents, and so no premedication was required. Shortly after induction and loss of consciousness there was noisy breathing suggestive of airway obstruction. The airway was gently manipulated by means of a jaw thrust procedure and an oropharyngeal airway was inserted to maintain the patency of the airway. After further deepening of anesthesia, the oropharyngeal airway could have been replaced by a size 2 laryngeal mask airway (LMA), but was not for the short duration of the procedure. Prophylactic antibiotic covererage to prevent infective endocarditis was not given. The entire operating table was tilted sideways (rather than moving the head and neck) to assist the surgeon for myringotomy and tube insertions. Analgesia was provided with intravenous Acetaminophen and an antiemetic was given to prevent post operative nausea and vomiting.

20. 1. The chromosomal abnormality in Down’s syndrome is: A. Trisomy 18 B
1. The chromosomal abnormality in Down’s syndrome is: A. Trisomy 18 B. Trisomy 21 C. 47 XXY D. Monosomy X 2. The most common congenital cardiovascular abnormality in Down’s syndrome is: A. Patent ductus arteriosus B. Coarctation of aorta C. Tetralogy of Fallot D. Atrioventricular septal defect

21. 3. A smaller tracheal tube may be required in Down’s syndrome due to: A. Inadequate mouth opening B. Sub-glottic stenosis C. Cleft palate D. Micrognathia 4. Lateral view neck radiograph is helpful in Down’s syndrome to detect: A. Enlarged and swollen epiglottis B. Subluxation at the C6-C7 joint C. Atlantoaxial subluxation D. Sub-glottic stenosis

22. Take home points Of particular importance is the assessment of: Airway
Cervical spine
Cardiovascular system
Respiratory system
Anesthesia should be carefully planned and the risks discussed with the parents/care givers. Preoperative planning and evaluation is crucial!
Peri-operative complications include airway obstruction, difficult intubation, bradycardia, and rarely, neurological problems due to atlanto-axial subluxation.

23. References
Carvalho B. Down’s syndrome p In: Oxford Handbook of Anaesthesia. Ed: Allman KG, Wilson IH Oxford University Press 2003 Roizen MF. Anesthetic Implications of Concurrent Diseases. p974 In: Anesthesia Ed: Miller RD. Churchill Livingstone th edition;. Kobel M, Creighton RE and Steward DJ. Anaesthetic considerations in Down’s syndrome: Experience with 100 patients and a review of the literature. Canadian Anaesthesiology Society Journal 1982: 29; Diseases common to the pediatric patient. p In: Anesthesia and co-existing disease. Ed: Stoelting RK, Dierdorf SF 3rd edition. Churchill Livingstone; Mik G, Gholve PA, Scher DM et al. Down syndrome: orthopaedic issues. Current Opinion in Pediatrics 2008: 20; Hata T, Todd M. Cervical spine considerations when anesthetizing patients with Down syndrome. Anesthesiology 2005; 102: Todd NW, Holt PJ, Allen AT. Safety of neck rotation for ear surgery in children with Down syndrome. Laryngoscope 2000; 110: Borland LM, Colligan J and Brandom BW. Frequency of anaesthesia-related complications in children with Down’s syndrome under general anaesthesia for non-cardiac procedures. Pediatric Anesthesia 2004; 14: Kawamata M, Omote K, Tago N and Namiki A. Anesthesia for Down’s syndrome with atlantoaxial instability using laryngeal mask airway. British Journal of Anesthesia 1994; 8: Prophylaxis against infective endocarditis. NICE guidelines, March (accessed 3rd June 2009). Roodman S, Bothwell M and Tobias JD. Bradycardia with sevoflurane induction in patients with trisomy 21. Pediatric Anesthesia 2003; 13: Chen H .Down syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease B Bhattarai, AH Kulkarni, ST Rao and A Mairpadi, Anesthetic consideration in downs syndrome-a review. Nepal Med Coll J 2008; 10(3):