Angelman Syndrome and Surgery

Brian Murphy, Ph.D. avatar

by Brian Murphy, Ph.D. |

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Patients with Angelman syndrome may need at some point to undergo surgery and also require special considerations because of their disabilities. Here is information about the surgeries these patients may need.

What is Angelman syndrome?

Angelman syndrome is a rare genetic disorder that can cause problems with behavior, communication, and coordination. The syndrome is caused by a mutation in the copy of the UBE3A gene inherited from the mother. In certain cells of the body, only this maternal copy of the gene is active. Errors in it can, therefore, lead to Angelman syndrome.

What types of surgery might patients need?

Patients with Angelman syndrome may need surgery for a number of reasons during their lifetime.

Dental problems such as cavities may be frequent in patients with Angelman syndrome. Some patients have prognathism (an underbite or overbite), which may require corrective surgery if it interferes with eating and drinking. Surgery may also be necessary in case of severe drooling to close up or redirect the salivary ducts if other treatments do not work.

Strabismus, or improper alignment of the eyes, can also occur in children with Angelman syndrome. Surgery may be necessary to correct the muscles in the affected eye if other non-invasive treatments are unsuccessful.

An abnormal sideways curve in the spine, called scoliosis, occurs in one out of five children with Angelman syndrome and in half of the adult patients. If scoliosis is severe, surgery may be necessary to correct and strengthen the spine.

Finally, Angelman syndrome patients who have difficulty eating or swallowing may require a feeding tube, which doctors may place directly into the stomach or intestines through surgery.

What are special considerations for surgery?

Due to issues with patients being unable to hold still or understand what is happening during procedures, or having trouble expressing pain, they are usually given general anesthesia for most procedures, even something minor such as dental treatment.

Prior to surgeries and anesthesia, patients may need testing depending on their medical history. Special testing and arrangements may be necessary for patients with heart issues or seizures to make sure that the surgery is safe.

Special preparations may also be necessary for patients with protruding tongues or prognathism that could interfere with intubation to regulate breathing during anesthesia.

Angelman syndrome patients do not appear to be at a higher risk during surgery than the general population. However, some may have a low heart rate due to anesthesia.

Since many Angelman syndrome patients have trouble with communication and can become anxious, it is also important for the parents or caregivers to be available prior to surgery and during the recovery afterward. The parent or caregiver can help reassure the patient. They can also communicate any pain or discomfort the patient may be feeling to the healthcare team.

 

Last updated: Feb. 15, 2021

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Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.