Introduction

Otitis media is an infection of the middle ear, which causes inflammation and a build-up of fluid behind the eardrum. It is a very common infection in young children, and it does not always require medical attention. Typical symptoms of otitis media include earache, a high temperature, being sick, fatigue and temporary hearing loss.¹ However, it can sometimes lead to complications in specific groups of people, such as young children, immunocompromised patients and people with certain genetic conditions. 

A genetic condition is a health condition caused by an abnormal gene, typically a mutation of a single gene or multiple genes.² Genetic conditions can cause a variety of symptoms and affect a range of systems in the body. They tend to be rare, but that does not mean they don’t affect many people globally. The most common genetic conditions are cystic fibrosis, sickle cell disease, Huntington’s disease, phenylketonuria (PKU) and Down’s syndrome.² 

Down’s syndrome, also known as trisomy 21, is a genetic condition where you are born with an extra chromosome.³ This extra chromosome can cause a range of physical symptoms and often leads to a learning disability.³ However, Down’s syndrome presents on a spectrum: some people may be able to live on their own, get a job and be independent, whilst some people may need a little more help. Although Down syndrome is a genetic condition, it does not run in families, which means anyone could have a child with Down syndrome.³ Some infections, such as otitis media, can be more severe in people with genetic conditions, such as Down syndrome.

Prevalence of otitis media in people with genetic conditions

People with genetic conditions, such as Down syndrome, may be more susceptible to infections such as otitis media. In children with Down syndrome, there may already be some hearing loss, which can then be worsened by ear infections.⁴ There are a number of factors that have been linked to the increased prevalence of otitis media in children and adults with Down syndrome. Children with Down syndrome may have weakened immunity, adenotonsillar hypertrophy, decreased muscle tone of the tensor veli palatini muscle, and altered consistency of Eustachian tube cartilage.4 All of these factors can predispose children and adults with Down syndrome to ear infections and, consequently, hearing loss. 

In a study carried out in 2013, it was found that the prevalence of otitis media in children with Down syndrome was one in three.⁵ In this study, the children who suffered from otitis media were found to have decreased hearing ability, which emphasises the need for intervention and treatment. 

Some other conditions where the prevalence of otitis media is found to be higher include Turner’s syndrome and cleft palate.^6,7

Complications of otitis media

People with Down syndrome and other genetic conditions are also likely to suffer worse complications from otitis media. Many patients contract acute otitis media, but it is more likely to become chronic in people with Down syndrome, which can lead to hearing loss.⁸ Many children end up needing surgery and hearing aids, which will affect them for the rest of their life.⁸ Some other potential consequences of otitis media in children and adults with Down’s syndrome are burst eardrums, damaged bones, pain, labyrinthitis and even meningitis.⁹ 

Contracting otitis media can also lead to recurrent infections and speech development delays in people with genetic conditions, which can have long-lasting effects.⁹ This is often because of anatomical dysfunctions caused by their genetic abnormalities.

Management of otitis media in genetic conditions

A very important step in the management of otitis media in genetic conditions such as Down’s syndrome is to include a variety of healthcare professionals in the care of the patient, such a paediatrician, otolaryngologist and paediatric audiologist. Speech and language therapists play a key role, since otitis media can often lead to speech delays or difficulties in children.¹⁰ 

Preventative measures

Regular hearing assessment 

As part of a scheme to prevent hearing issues in patients with Down’s syndrome, a hearing assessment is recommended every two years, more frequently if there are issues, due to their ear canals being narrow and susceptible to the accumulation of wax.¹⁰

Regular wax removal 

People with Down syndrome tend to have narrow ear canals, which means wax can build quickly and impact hearing.¹⁰ This can also prevent healthcare professionals from being able to identify issues early, if they are unable to see the ear drum to assess.  Therefore, an important preventative measure would be to regularly drain excess wax from the ears.¹¹ 

Treatment of an acute otitis media infection

Otitis media is often managed by watching and waiting, as it can resolve on its own in less than a week. However, a doctor will follow the NICE guidelines to decide whether antibiotics are required. This will depend on a variety of factors such as age, how unwell the person is and any other medical conditions. Having Down syndrome does not necessarily mean that antibiotic treatment will always be required, but if the infections are recurrent or chronic, it is likely to need treatment. Regardless, regular pain relief will almost always be required to manage the pain associated with otitis media. 

People with Down syndrome who have recurrent otitis media infection are generally referred to see a specialist ear, nose and throat doctor, who will consider if further management is required to prevent the frequent infections occurring. 

Surgical options

An option for managing chronic otitis media infections, especially those which have a perforated eardrum that leaks fluid, would be placing hearing aids or grommet tubes (ventilation tubes).¹⁰ Although grommet tubes can be beneficial in patients with recurrent otitis media infections, they can also be a first-line treatment for “glue ear” for patients with Down’s syndrome.¹⁰ However, there can be quite a few complications to inserting grommet tubes, especially in patients with narrow ear canals: these can range from infection to perforation of the tympanic membrane.10 It is also important to note that, in children with Down’s syndrome, the ear canals are very small and narrow, so smaller grommet tubes than usual would need to be used.¹⁰

Adenoidectomy is another surgical option that removes enlarged adenoids, and can be helpful if this was the likely cause of recurrent or chronic otitis media infections. It is typically carried out in children who have recurrent nose blockage, otitis media or sleep apnoea.¹² The surgery is minor, but it could cause bleeding in the throat or infection, so careful monitoring is needed post-surgery.¹²

Hearing aids

Hearing aids are important tools to manage hearing loss that might come as a result of otitis media. There are many types of hearing aids available that work in different places within the ear, and different people will get on with different types depending on the anatomy of the ear and their preferences.

Bone-anchored hearing aids can be used in certain types of hearing loss.¹⁰ Instead of being inserted in the ear canal, bone-anchored hearing aids (BAHA) are attached to a soft band worn on the head or fixed to a metal implant inserted into the skull¹³. These can be an option for adults or children with genetic conditions if surgery and hearing aids are not tolerated due to anatomical abnormalities.¹⁰

Speech and language therapy

It is also very important, along with medical interventions, to offer support to people whose genetic conditions affect their speech following otitis media, such as Down syndrome. Speech and language therapists can help improve speech abilities and can also prevent delays and damage caused by otitis media.¹⁰

FAQs

How do you prevent otitis media?

1. Avoid smoking
2. Wash hands
3. Stay home when sick
4. Dry ears
5. Take precautions when in water
6. Avoid using q-tips¹⁴ 

How do you screen for genetic conditions, such as Down syndrome?

Different genetic conditions have different screening tests and programmes; for example, pregnant mothers will be offered screening between weeks 10 and 14 of the pregnancy to test for Down’s syndrome.¹⁵

How do I know when to call a doctor?

Call your doctor if:

1. Symptoms do not improve for 2-3 days
2. You have a lot of pain
3. You get these infections often
4. Have an underlying health condition¹

Summary

Otitis media is an infection of the middle ear, caused by a build-up of fluid, leading to a fever, earache and being sick. It usually resolves on its own, but in people with genetic conditions, such as Down syndrome, it can lead to severe hearing loss in some cases. This hearing loss and other severe symptoms need to be addressed, and there are a number of ways to do this. Regular drainage and wax removal can help prevent infections; however, they are still very common in children and adults with Down syndrome. Grommet tubes may be the next step to manage recurrent or chronic infections or help drain effusions. If hearing loss has occurred, hearing aids may be required, but they are not always well tolerated by patients due to their narrow ear canals, so bone-anchored hearing aids may need to be used. Any medical intervention should be supported by a speech and language therapist to ensure speech does not suffer as a result of hearing loss.