Angelman syndrome is a rare disease characterized by delayed mental and physical development. People with Angelman syndrome may not respond in predictable ways to anesthesia (medications to block pain sensation).
What is Angelman syndrome?
Angelman syndrome is a complex neurological disease caused by the loss of function of the maternal copy of the UBE3A gene. Many patients also have defects in an important receptor in the brain called the gamma-aminobutyric acid (GABA) receptor. The neurotransmitter, or cell signaling molecule, GABA normally exerts its activity by binding to this receptor. GABA’s main function is to inhibit or suppress nerve signaling; without GABA signaling, nerve signals are sent too frequently and cause seizures in some patients.
What is anesthesia?
Anesthesia refers to medications that dull the sensation of pain. General anesthesia refers to those that cause unconsciousness, while local or regional anesthetics numb a specific region without the person losing consciousness.
There are many reasons why anesthesia may be required, with the most typical being a surgical procedure. Often, the first time a child needs anesthesia is for dental work, such as a tooth removal.
Anesthetics act on the central nervous system (the brain and spinal cord) to stop a person from feeling pain. They work by slowing the release of signaling molecules in the brain, thereby slowing or preventing nerve signals from being sent. Many anesthetics are thought to work via interaction with GABA receptors.
Anesthetics can be injected into the bloodstream or a muscle, inhaled, or injected into the membrane covering the spinal cord, as in the case of an epidural. Each method of administration has its advantages and disadvantages, and not all patients can tolerate all types of administration.
Anesthesia in Angelman syndrome
Angelman syndrome patients may require anesthesia for procedures that those without the disease may not. This is because Angelman syndrome patients are often unable to express themselves if they are in pain.
Many challenges are associated with the use of anesthetics in Angelman patients. For example, they may have difficulty staying still while the anesthesia is being given because of muscle spasms and twitches. It may be difficult for Angelman patients to understand why they are being given anesthesia. Many patients also have skull and airway abnormalities that may make it challenging to administer anesthesia.
Since anesthesia slows the release of neurotransmitters in the brain, they can dampen breathing and the heart rate. This may be particularly dangerous for Angelman patients, who may over-respond to anesthetics because of the structural and signaling differences in their brains. Scientists do not completely understand how anesthetics work, or what causes the differences in responses seen in people with Angelman syndrome and those without it. Because of this, it may not be possible to predict whether a patient will have problems with anesthesia.
All Angelman syndrome patients may have trouble waking up from anesthesia. These problems are usually ably managed by the medical team, but they may make surgical procedures more risky for patients, who can be sensitive and overly responsive to anesthesia.
Some medications can interact poorly with anesthesia. It is very important to ensure that the patient’s surgical team and anesthesiologists are aware of all medications being given a person with Angelman syndrome.
Last updated: Oct. 07, 2019
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