Respiratory Problems in Angelman Syndrome
Angelman syndrome can affect your respiratory function, meaning it can impact your breathing.
Here is more information about what types of breathing problems you or your child with Angelman may face, and how best to manage them.
There is little data available from sleep studies in Angelman syndrome. This is because patients are generally uncooperative with wearing the equipment and taking part in the procedures necessary to administer the tests.
A small study in 10 children with Angelman found that 30% of them had either central or obstructive sleep apnea. Central sleep apnea occurs when the central nervous system, comprised of the brain and spinal cord, does not send the signals important for breathing correctly to the muscles. As a result, breathing repeatedly stops and starts during sleep rather than following a normal rhythm. Meanwhile, in obstructive sleep apnea, the airways become blocked due to the movement of the soft parts of the throat or tongue covering it.
In another study involving a subset of 20 children with Angelman, researchers found that 56% of them had sleep-related breathing problems. That data came from parent questionnaires and seven-day movement data.
Problems with the mouth and digestive system also can lead to difficulties in breathing. Angelman patients of all ages can have trouble with swallowing, acid reflux from the stomach, and excessive drooling. All of these issues can lead to aspiration, or the accidental breathing in of food or liquids into the lungs, which in turn can lead to infections such as pneumonia.
Acute respiratory disorders
Patients with this genetic disease also may be at a higher risk of having more severe acute respiratory disorders.
According to one study, issues arising from such disorders were one of the most common reasons for Angelman patients to be hospitalized. The study found that 12.4% of people with Angelman had acute respiratory disorders. In this case, the types of disorders among the patients were not specified. However, these generally include bronchitis, acute respiratory distress syndrome, and infections such as pneumonia or tuberculosis.
Breathing may become more difficult for individuals with physical disabilities. A study observed that two patients who had limited mobility and scoliosis — a sideways curvature in the spine — also had a respiratory compromise, where they were unable to breathe deeply enough. This can reduce the amount of oxygen in the lungs and potentially lead to more infections.
Dealing with respiratory problems
For sleep-disordered breathing, several options may be pursued for treatment. These could include changes in medication, supplemental oxygen, and continuous positive airway pressure (CPAP). The usefulness of oxygen therapy or CPAP will be limited, however, by how willing the patient is to wear face masks at night.
To prevent aspiration, individuals can work with an occupational therapist or a speech and language therapist to help them learn how to eat and swallow better. Another preventative option would be to have a feeding tube so that patients won’t have to swallow any food.
If patients develop an infection that affects the lungs, they may need antibiotics or other medications to help with symptoms. Additional oxygen or a ventilator may be necessary to assist with breathing. Physiotherapy, braces, and surgery can help patients stay mobile and healthier. This could prevent or delay scoliosis, breathing problems, and infections.
Last updated: Feb. 1, 2021
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