Fetus

Tongue is a body part that we often associate with taste. Tongue helps us to taste food and we can see the importance of the tongue function when we have a cold. Cold often causes the tongue function to decline and make the food or drink taste bad or bland. We often also see sticking out the tongue as a form of expression. In this DoctorOnCall’s article, we will learn about glossoptosis which is a condition that affects the tongue.

Before we go further on glossoptosis, you might want to learn more about the tongue itself as it is the structure heavily affected by glossoptosis. Tongue is a muscular organ that is covered with mucosa. The tiny bumps known as papillae are what you may be familiar with as the rough surfaces on the tongue. Tongue is considered as a digestive organ as it aids in moving the food when a person chew food and helps in the swallowing process. Another function of the tongue is to assist a person in speech ability and of course, tasting purpose. In the first days of life, newborns typically have elevated tongue at rest with their lips closed. As the baby develops, the front part of the tongue and the floor of the mouth will grow apart. The ideal position of the tongue in children and adults is the tongue rising to the roof of the mouth when in rest and just about half inches behind the front teeth.

Glossoptosis is defined by the backward and downward fall of the base tongue.  In other words, it is the displacement of the tongue toward the back of the oral cavity. This condition often causes airway obstruction. There is at least 3% of the children population who are affected by obstructive sleep apnea syndrome. Obstructive sleep apnea syndrome is a condition where breathing cessation occurs during sleep due to partial or complete closure of the airway. While the most common cause for these sleep problems is enlarged adenoid and palatine tonsils, glossoptosis is the potential cause for obstructive sleep apnea. Glossoptosis not only causes airway obstruction as it also causes feeding difficulties.

When we talk about glossoptosis, especially in the fetus, it is most likely to be associated with the Pierre Robin Sequence (PRS). PRS is a condition where there are triad of small lower jaw (micrognathia), glossoptosis and upper airway obstruction. PRS may also be associated with opening in the roof of the mouth or better known as cleft palate. PRS is associated with gene mutations that affect development of facial structures and cartilage development. PRS often cause breathing and feeding problems as air and food pass through the mouth and down the throat. Glossoptosis in PRS can be mild to life-threatening. Glossoptosis is considered to be the cause for obstructive sleep apnea in PRS, which is common in infants under the age of 3 months old. PRS is also associated with 34 other syndromes, with Stickler syndrome the most common one. Stickler syndrome is caused by the gene mutation that affects collagen formation. Symptoms for Stickler syndrome include flattened facial appearance, severe nearsightedness, cataracts, retinal detachment, hearing loss and hypermobility.

PRS itself is considered to be a rare condition as it accounts for 1 in 8500 to 14000 newborns a year. Glossoptosis in PRS usually requires the help of endoscopy and CT scan to evaluate the level of obstruction. While glossoptosis is mostly associated with PRS, findings of micrognathia during pregnancy based on ultrasound findings typically will raise concern for the baby to have PRS. When there is concern of PRS during pregnancy, the women might be offered with amniocentesis and genetic counselling. This will help parents to be prepared for what to be expected when the baby is born or to have options on terminating the pregnancies.

Treatment for PRS is individualised with surgery only to be performed if there are functional problems or in severe conditions where there are airway problems. Babies with PRS are advised to be placed on their stomach and not on their back. This is to avoid the tongue from falling back and blocking the throat. Infants with PRS may be inserted with a nasopharyngeal airway to keep the airway open. Intubation may be needed in severe cases and rarely tracheostomy to help infants breathe better. Other issues such as speech and hearing problems are addressed based on the severity of the issue.

In essence, glossoptosis is the condition where the tongue is positioned backward. It is usually associated with Pierre Robin Sequence but it may be associated with other syndromes such as Down syndrome. Glossoptosis is more than just the issue of the tongue displacement as it is often associated with airway obstruction. Airway obstruction itself not only causes breathing difficulties but also feeding problems that can cause the child to have poor nutrition and development. Glossoptosis is best treated with surgery.