Breathing Problems in People with Myhre Syndrome

Certain breathing problems are common in people with Myhre syndrome. Learn about breathing problems and how doctors diagnose and treat them in people with Myhre syndrome.

What are common breathing problems in people with Myhre syndrome?

There are many types of breathing problems in people with Myhre syndrome. Doctors do not know exactly how often each problem occurs, and some people might have more than one. Below is a list of breathing problems in Myhre syndrome:

• Alveolar disease. This affects the alveoli (air sacs in the lungs). When it occurs in Myhre syndrome, it can look like asthma.
• Lung infection. A common lung infection is pneumonia (buildup of fluid in the lungs). Lung infections can be caused when viruses or bacteria (germs) enter the lungs. Myhre syndrome does not cause lung infections.
• Restrictive lung disease. This means the rib cage is stiff and the lungs may not expand well.
• Interstitial lung disease (ILD). ILD affects the thin space between alveoli. This may cause coughing and shortness of breath.
• Obstructive sleep apnea (with snoring). This can happen in people with a small upper airway. Poor sleep from obstructive sleep apnea can also affect school performance.
• Insomnia (inability to fall asleep or stay asleep). Insomnia in people with Myhre syndrome is usually associated with autism spectrum disorder (ASD). People with ASD require less sleep time and can awaken in the middle of the night.

How do doctors check for common breathing problems?

There are many ways doctors can check for breathing problems in people with Myhre syndrome, which include:

• A thorough review of a person’s medical history. Coughing, snoring and insomnia are common. Sputum (phlegm) is not common. Snoring or a barking cough might be caused by an upper airway obstruction (blockage).
• Watching a person breathe. People with Myhre syndrome often have stiff joints and stiff ribcages. This can affect their ability to breathe.
• Pulmonary function tests (PFTs). PFTs check how well a person’s lungs work. PFTs are very helpful, but they can be challenging in very young children or people with ASD.

How do doctors treat common breathing problems?

There is no single medicine that works all the time in all patients. Many breathing problems can be treated once they are diagnosed. Below are different treatment options for common breathing problems:

Breathing problem	Treatment
Upper airway obstruction Examples: Croup, pertussis, viral laryngitis	Same treatment as in people without Myhre syndrome. Your primary care physician (PCP) will treat this based on how severe the episode is. It is important that children with Myhre syndrome receive vaccinations, especially for pertussis.
Lung infection (pneumonia)	Antibiotics are used for bacterial pneumonia.
Inflammatory lung disease Example: Asthma	Aerosols with steroids can be used. This is usually a spray mist which requires a device, such as an inhaler.
Obstructive sleep apnea	Tonsillectomy, an operation to remove enlarged tonsils, may be indicated. For some, a continuous positive airway pressure (CPAP) mask will help.
Insomnia	Medications can be considered after discussion with your PCP.
Stiff ribcage	Deep breathing may help.

Rev. 2/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.