Down syndrome is a genetic disorder that can have many effects on the body and oral

cavity. This disorder is result of an extra chromosome being inherited by a parent during

embryonic/fetal development. Each human cell normally has 23 pairs of chromosomes. Down

syndrome is the result of an extra chromosome 21 or extra chromosomal 21 genes being

inherited by either the mother or father, after conception. Down syndrome is also referred to

as trisomy 21 (Ataman et al., 2012). According to the National Institute of Child Health and

Human Development, down syndrome occurs in all ethnic and economic groups. Some

predisposing risk factors for down syndrome include parents that have an existing

chromosomal disorder and mothers that are older during time of conception (Centers for

Disease Control and Prevention [CDC], 2023) . Down syndrome is named after John Langdon

Down, a British physician that first described the syndrome in 1866. Jerome Jean Louis Marie

Lejeune was a human geneticist that discovered down syndrome’s link to a chromosomal

abnormality in 1959 (Ataman et al., 2012). Due to modern medical treatments, the life

expectancy of a person with down syndrome has increased from 25 years old to 60 years old

(Kanagaraj & Gurenlian, 2021).

Down syndrome is a lifelong disability that has many implications physically, and

comorbid health issues. A person with down syndrome can show low muscle tone, which can

affect their ability to walk, delayed speech and enunciation issues, dexterity issues, emotional

and behavioral issues (National Institute of Dental and Craniofacial Research [NIDCR], 2009).

According to the National Institute of Child Health and Human Development, cardiac disorders

such as mitral valve prolapse are present in over 50% of people diagnosed with down
syndrome. Down syndrome also increases the risk of developing valve dysfunction that could

ultimately lead to congestive heart failure.

A person with down syndrome may also suffer from a compromised immune system.

This can lead to the development of opportunistic infections and diseases. Respiratory issues

and disorders are also secondary health complications that can present with down syndrome.

Hypotonia or low muscle tone is common with down syndrome. This affects muscles of the

body in various places. As stated above, this could lead to complications with walking and

balance. Seizures can also present in a person with down syndrome. According to the National

Institute of Child Health and Human Development, seizures are more common among infants

but can present in adults as well. Down syndrome affects the vision in people with down

syndrome. A person with down syndrome may present with strabismus, glaucoma and/or

cataracts.

Hearing loss is another potential affect someone physically with down syndrome.

According to the Centers for Disease Control and Prevention, children with down syndrome are

at higher risk for obstructive sleep apnea, intestinal blockages, hip dislocation, thyroid disease,

anemia, and leukemia. Adults with down syndrome are at higher risk for developing

Alzheimer’s disease and dimentia.

While there is no medication to treat the disability down syndrome, a person diagnosed

with down syndrome may be prescribed medications to treat the secondary conditions listed

above. For example, if a person with down syndrome suffers from seizures, an anticonvulsant

medication such as carbamazepine, phenytoin and valproic acid may be prescribed (Kanagaraj

& Gurenlian, 2021). If a person with down syndrome suffers from mitral valve prolapse, an
antibiotic premedication may be required prior to dental treatment. Medications may be used

to treat a person’s down syndrome associated dementia, such as rivastigmine, glantamine,

memantine and donepezil (Kanagaraj & Gurenlian, 2021). Some people with down syndrome

take amino acid supplements or drugs that affect brain activity however, this treatment method

has not been proven to be effective or safe. People with down syndrome more commonly have

a treatment plan that consists of a combination of emotional and behavioral therapies,

occupational therapy, speech-language therapy and physical therapy (NIDCR, 2009). Down

syndrome also affects people intellectually. The degree in which a person is affected

intellectually varies from mild to moderate, this could present as delayed learning,

communication and difficulty with daily activities of life.

The oral cavity is affected by down syndrome in many ways. Down syndrome can result

in an underdeveloped maxilla. This can lead to posterior crossbites and class III occlusion.

Malocclusion, delayed eruption of permanent teeth and poor alignment of the teeth post

eruption is common with down syndrome. Poor alignment of teeth can decrease their self-

cleaning aspect leading to food impaction and increased risk of decay and periodontal disease.

Down syndrome can also increase the incidence of congenitally missing teeth and irregularities

such as microdontia and malformed teeth. If teeth are malformed, the chances of tooth loss

associated with periodontal disease increases (NIDCR, 2009). Hypotonia can also affect muscles

of mastication and facial expression. This can lead to anterior open bites, issues with chewing,

swallowing, and excessive drooling. If a person’s mastication muscles are affected, food packing

may increase, this is when chewed (or partially chewed) food is packed in the cheek or lips of a

person. Due to a compromised immune system, there is a high incidence of periodontal

disease. Aphthous ulcers, oral Candida infections and acute necrotizing ulcerative gingivitis are

also common in people with down syndrome. Seizures can lead to chipped teeth and trauma to

the tongue and mucosa. Medications prescribed for a person with down syndrome that also

suffer from secondary conditions such as seizures or cardiac issues, may lead to complications

and side effects such as gingival overgrowth and xerostomia. These potential side effects can

increase the risk of decay and/or periodontal disease.

Depending on the severity of down syndrome, a person may need a part time or full

time caretaker. If a person has mild down syndrome and is able to complete daily activities of

living such as dressing themselves, bathing and feeding themselves, the need for a caretaker is

small. However, if a person has a more moderate to severe diagnosis and is unable to care for

themselves, a caretaker is necessary. Due to mobility and dexterity issues associated with down

syndrome, modifications should be made to increase the effectiveness of the person’s oral

hygiene routine. These modifications could include a large handled tooth brush and or an

electric tooth brush. The increased handle size can help with grip and movement of the tooth

brush and the electric tooth brush will help reduce plaque accumulation. Malocclusion can

increase plaque accumulation and make it difficult to disrupt plaque with a manual tooth brush.

Floss aids would also be beneficial for a person with down syndrome due to their dexterity

issues. A floss holder or interproximal brush may help the individual with down syndrome or

the care taker, in removal of interproximal plaque accumulation.

Appointment modifications may need to be made to ensure effective dental treatment

and patient understanding. According to “Caring for Patients With Down Syndrome” by
Kanagaraj & Gurenlian 2021, when treating a patient with down syndrome, communication and

preparation for the appointment is of upmost importance. In order to prepare for a dental

appointment, the dental provider should communicate with the parent or caregiver of the

patient prior to beginning treatment. This will ensure any needs of the patient are adequately

discussed. A thorough risk assessment, comprehensive health history, dental history,

pharmacologic history and assessment of mental capabilities, communication skills, behavioral

management, mobility issues and consultation with the patient’s medical provider is

recommended to discuss any significant comorbidities that could be present. A desensitizing

appointment may be helpful to familiarize patient with the office, dental staff and instruments

to be used during appointment. Praise and positivity throughout the appointment will help

patient’s behavior and comfortability. Appointments would be best kept short, when possible.

Patient positioning should be considered due to excessive drooling and potential gagging. If

patient struggles with swallowing, the use of pillows, head rest adjustments and angling of

patient’s head would be beneficial.

A person with down syndrome would benefit greatly from in depth oral hygiene

instruction, nutrition counseling, professional fluoride treatment, at home fluoride therapy, and

mouth rinse use. In addition, the overall oral health condition of patient should be discussed.

For example, patient and parent and/or care giver should be informed of periodontal status;

gingivitis, periodontitis, bone loss, bleeding, plaque score etc. All of the information discussed

during appointment should be re-iterated to patient’s parent or care giver. In order to ensure

patient understanding of information, it would be beneficial to have patient demonstrate

techniques back to the dental health professional. By taking extra time with a patient that has
down syndrome, their dental experience can be a positive and enjoyable experience leading to

an overall increase in their oral health.

 References

Ataman, A. D., Vatanoglu-Lutz, E. E., & Yildirim, G. (2012). Medicine in stamps: history of down

syndrome through philately. Turkish-German Gynecological Association, 13(4): 267-269.

Doi: 10.5152/jtgga.2012.43

Centers for Disease Control and Prevention. (n.d.). Data and statistics. Retrieved December 1,

2023, from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html

Kanagaraj, P. P., & Gurenlian, J. (2021, June 23). Caring for patients with down syndrome.

Dimensions of Dental Hygiene, 19(6), 32-35.

https://dimensionsofdentalhygiene.com/article/caring-patients-down-syndrome/

National Institute of Child Health and Human Development. (n.d.) Who is at risk for down

syndrome? Retrieved November 30, 2023, from

https://www.nichd.nih.gov/health/topics/down/conditioninfo/Risks#:~:text=These

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%20Hispanic%20ethnicity.&text=Because%20the%20likelihood%20that%20an,an

%20infant%20with%20Down%20syndrome.

National Institute of Dental and Craniofacial Research. (n.d.). Practical oral care for people with

developmental disabilities. Retrieved November 30, 2023 from

https://www.nidcr.nih.gov/sites/default/files/2017-09/practical-oral-care-down-

syndrome.pdf