Dr. Lynn White

Growing awareness among health professionals involved in the care of children and adults with Williams syndrome (WS) has prompted formulation of guidelines for routine screening tests to monitor for diseases commonly encountered in this syndrome.

Many WS individuals undergo sedation or general anesthesia for diagnostic radiologic procedures, cardiac catheterization or surgical procedures. Surgeries frequently include strabismus correction, hernia repair, ear tubes and cardiovascular operations. During the past five years, literature in the form of case reports has recounted untoward events on induction of anesthesia, particularly in WS children with heart disease. This has caused reasonable concern about the kind of preoperative screening that needs to be done prior to an elective procedure. It is vital that the parents educate the anesthesiologist about their child's particular set of problems in a non-pressured setting. This is best arranged as a preanesthetic visit, usually within a week prior to the scheduled operation. It is now common practice in numerous medical centers nationwide for patients with potentially complex medical management to have preoperative evaluations with input from the appropriate specialists.

If parents or guardians of a child or adult with WS are not offered this option, it is best to discuss the possibility of scheduling such a meeting with the primary physician. Ideally, the primary physician would coordinate all patient records, including subspecialty visit reports and make this information available to pertinent participants in the individual's care. Often, however, the responsibility of collecting important data falls on the parents; thus, it is important to understand which items are most crucial prior to an operative procedure.

The problems of particular concern to the anesthesiologist include those related to a patient's cardiovascular system, kidney function, airway anatomy, metabolic status, joint mobility and level of cognitive functioning.

Taking these considerations individually, the cardiovascular system is first and foremost. Problems with the heart, great vessels and blood pressures are particularly prevalent in WS. Therefore, a cardiologic evaluation within the 12 months preceding surgery is desirable and records from the cardiologist should be requested for the anesthesiologists review. Copies of EKG'S, echocardiograms, chest x-rays (if available) and cardiac catheterizations (if appropriate) should be provided.

The airway problems in WS concern the potential difficulty in placing an endotracheal tube for general anesthesia in the WS individual with an underdeveloped lower jaw. Dental problems, including brittle or loose teeth can compound this difficulty. These features are best noted when the anesthesiologist performs a brief, specific physical exam during the preoperative visit.

The patient's intellectual and emotional profile will dictate the method of premedication and potentially the method of anesthetic induction used. The parents can be very helpful in supplying information that can be used to allay the WS individuals anxiety.

Kidney function tests and any records of urinary tract disease should be made available. Calcium derangements may be associated with urinary tract disorders and results of any calcium testing (if appropriate in a given individual) should be provided.

Joint contractures involving limitation of motion should be pointed out so that proper precautions can be taken with padding and positioning for the procedure. Any patient or family history of unusual reaction to anesthetics needs to be highlighted. In the individual with WS, a history of previous surgeries and responses to anesthetics can be very helpful. Any adverse reactions to medications should be reported and a list of current medications provided.

With a working knowledge of the WS patients history, recent subspecialty evaluations and appropriate lab data, an anesthesiologist can plan and individualize the anesthetic, type of monitoring equipment required and anticipate potential problems. Parents and guardians of WS individuals are a tremendously valuable resource to the treating physicians and should be informed participants in the process for providing safe intervention for their children.