Glossoptosis

Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue.^[1] This mostly affects infants and children.^[2] It may cause non-fusion of the hard palate, causing cleft palate.^[1] It can also cause difficulties with feeding and upper airway obstructions.^[3] Glossoptosis could be a symptom of a birth defect from Pierre Robin Syndrome.^[2] It can also arise with Down syndrome and cerebral palsy.^[2]

Signs and symptoms

Glossoptosis is characterized by an abnormal posterior placement of the tongue like a downward displacement or retraction. This characteristic causes other symptoms to arise because of the abnormality. Glossoptosis may cause upper airway obstruction which can lead to infants not getting enough oxygen.^[2] Not only may they not get enough oxygen they most likely will experience shortness of breath and struggle to breathe.^[2]

Not being able to breathe properly can lead to other difficulties like struggling to breastfeed or even eat because of the lack of oxygen.^[3] Infants and children can also have difficulties swallowing because of the abnormal placement of the tongue.^[2] If they are unable to eat properly this can cause a lack of nutrients in the infants or children affected with the abnormality, and most likely will fail to thrive.^[3]

Another symptom of glossoptosis can be obstructive sleep apnea.^[2] A study showed that 25% of children who were sent for fluoroscopic sleep studies showed glossoptosis as a cause of airway obstruction leading to sleep apnea.^[4] Some children affected with glossoptosis can also experience speech issues.^[2]

Causes

Glossoptosis can be caused by birth defects one being Pierre Robin Syndrome (PRS).^[2] Birth defects usually occur during the pregnancy and are present at birth.^[2] They are not preventable.^[2] Pierre Robin Syndrome specifically targets infants’ jaws and may not form properly.^[2] Pierre Robin Syndrome is also known as Pierre Robin sequence because it is a sequence of disorders, one causing the next.^[3] For example, micrognathia in PRS can lead to glossoptosis and that leads to airway obstruction.^[3]

Genetic disorders can cause glossoptosis as well.^[2] Genetic disorders happen when there is a mutation or change in a gene.^[2] They can also be passed down from parents to their children.^[2] Down syndrome is one of those genetic disorders that can cause glossoptosis in a child.^[2]

Neuromuscular disorders such as cerebral palsy also causes glossoptosis.^[2] Neuromuscular disorders happen when there’s an abnormality in brain development.^[2] This can happen during or after pregnancy.^[2] Children affected with cerebral palsy have weak muscles which can affect the tongue.^[2] Weak tongue muscles lead to children with cerebral palsy having downward displacement or retraction of the tongue.^[2]

Diagnosis

There are many ways to diagnose this abnormality. Flexible Fiberoptic Laryngoscopy (aFFL) is a procedure that is most frequently used to diagnose glossoptosis.^[5] A study did show that it was not the most reliable, but it can be used to diagnose glossoptosis.^[5]

An infant with the condition can have a small lower jaw which can be a physical indicator of glossoptosis and can be used to diagnose the abnormality.^[2]

Breathing as well can show the abnormality especially if there are any upper airway obstructions.^[3]

Treatment/Management

In many cases, children with Glossoptosis may not need treatment this is because as they grow, their jaw will grow with them.^[2] This allows for more room in the mouth for the tongue, and in turn removes glossoptosis.^[2]

While infants have a smaller jaw, there are ways to manage the symptoms that come with glossoptosis. Different positions like prone or lateral may relieve or solve the airway obstruction a child may be experiencing.^[3] Different positioning of the body as well can help with feeding an infant or child that has glossoptosis.^[3]

In the rare cases where symptoms are more severe, treatment is also going to be more extreme. If a child or infant is having trouble breathing due to an airway obstruction they may need to get a breathing tube so they can get enough oxygen, or even in more extreme cases a tracheostomy.^[2] Infants may also get a nasopharyngeal (NP) tube to help relieve airway obstructions as well, since an NP is specifically made for obstructions, and reduces the need for any surgical treatment.^[3] If an infant is struggling to feed and get enough nutrients a feeding tube may be needed.^[2] Early use of a nasogastric tube can be used for infants, to gain weight and get the necessary nutrients to thrive, making it easier to manage the symptom caused by glossoptosis.^[3]