Health Conditions of Individuals with Down syndrome: Adolescents & Adults

Hello to our GiGi’s community! Part of our mission is to educate and inform our community about Down syndrome, and Dr. Brian Chicoine has helped us do just that. Dr. Brian Chicoine, Medical Director of Advocate Health Care Adult Down syndrome Center, shared a vast amount of information to help educate families, healthcare professionals, caregivers, and service providers of individuals with Down syndrome.

Fortunately, individuals with Down syndrome are living longer and healthier now than ever before, with the average lifespan reaching up to around 60 years old, and it is only increasing. We are continuing to grow as a community, but being educated is a significant factor in this growth, so understanding both common and uncommon health conditions is imperative for continuous improvement.

It is common for individuals with Down syndrome to have a lower heart rate and lower blood pressure. It is also common to have Polycythemia (elevated hemoglobin), Macrocytosis (large red blood cells), Neutropenia (low white blood cell count), and abnormal blood clotting. Additionally, it is vital to be aware that those with Down syndrome are more likely to have vitamin deficiencies and a folate metabolism. With this knowledge, it is crucial to adopt and maintain a healthy diet with nutritional habits that follow accordingly. It is also shown that some individuals with Down syndrome experience greater pain than those without Down syndrome, but are also less likely to report it, while they may have a delayed response to pain and have difficulty localizing it.

Other more common conditions include:

Cancer

• Leukemia
• Testicular cancer
• Lymphoma

Individuals with Down syndrome are less likely to have solid types of cancer, like breast cancer, cervical cancer, and colorectal cancer. It is crucial to remember that they may be less likely to report health concerns, so they may not report pain or have a delayed response to it, which can impact when cancer is discovered. Behavioral changes may be observed in this presentation.

Endocrine and weight

• Hypothyroidism
• Hyperthyroidism
• Type 1 diabetes mellitus
• Obesity and overweight
• Adrenal insufficiency

These may present with behavioral, psychological, and physical symptoms

Sinuses

• Vision impairment
• Keratoconus
• Cataracts
• Depth perception
• Cerebral vision impairment
• Hearing impairment
• Cerumen impaction
• Middle ear infections
• Chronic rhinitis
• Chronic sinusitis
• Gum disease
• Malocclusions
• Dysphagia

It is crucial to pay attention to this when there are behavioral changes or loss of function. Individuals with Down syndrome should get vision exams at least every two years, periodic hearing tests, dental exams, and monitoring for any changes in swallowing.

Gastrointestinal

• GERD
• Celiac Disease
• Motility problems
• Achalasia
• Gall Bladder Disease
• Hernias
• Fatty Liver

Watch for potential reduced pain report, chest pain, change in function, and change in mood and/or behavior.

Genitourinary

• Urinary retention
• Impairment of kidney function
• Urinary incontinence
• Urinary tract infections

Pay attention to behavioral changes, and if a lack of self-restraint or voluntary action accompanies urinary retention.

Heart and Vascular System

• Congenital heart disease
• Valvular heart disease
• Embolic strokes
• Moyamoya
• Varicose veins

It is less common to have hypertension and coronary artery disease/myocardial infarctions.

Mental Health

• Depression
• Obsessive- Compulsive Disorder
• Impulse control disorder
• Attention deficit disorder

These conditions present through communication, behavior, self-reporting, introspection, and impulse control. It may be essential to get checked when noticing changes in routine, and if the individual has underlying physical health conditions. It is less common to engage in substance use/abuse. It may also be less common to have anxiety disorder or posttraumatic stress disorder.

Musculoskeletal

• Atlantoaxial instability, cervical myelopathy (depression is likely present)
• Autoimmune arthritis
• Joint laxity and subluxation
• Flat feet and overpronation
• Gout
• Osteoarthritis (change in function is likely)

Neurology

• Epilepsy/seizures
• Alzheimer’s Disease
• Autism

Psychological and behavioral changes will be shown. It is uncommon to have atherosclerotic strokes, multiple sclerosis, and Parkinson’s.

Respiratory

• Smaller airways
• Obstructive sleep apnea
• Pneumonia
• Infections
• Pulmonary hypertension
• COVID-19

These present through behavioral or psychological changes, lack of fever, lack of elevated WBC, hypotension sooner, sepsis, and adrenal insufficiency. It is less common to have influenza or an upper respiratory infection.

Skin and nail conditions

• Alopecia
• Hidradenitis suppurativa
• Seborrhea
• Psoriasis
• Infections
• Dry Skin
• Onychomycosis (fungal infection in the nails)

Down syndrome Regression Disorder (DSRD)

DSRD is a health condition specific to Down syndrome, also called Down syndrome disintegrative disorder, regression, adult regression syndrome, or catatonia. This condition continues to be studied, but there is currently minimal information available.

The symptom onset includes new neurological, psychiatric symptoms, or mixed symptoms over less than 12 weeks that were not previously existent in a healthy individual with Down syndrome.

These symptoms include:

• Altered mental status or behavioral dysregulation
• Cognitive decline
• Developmental regression with/without new autistic features
• New focal neurologic deficits on examination and/or seizure
• Insomnia or circadian rhythm disruption
• Language deficits
• Movement disorder (excluding tics)
• Psychiatric symptoms

Specifically to Catatonia:

• Abnormality of movement and behavior
• Can (but may not) be associated with a mental illness
• Various presentations
• Repetitive or purposeless overactivity
• Resistance to movement

Overall, it is critical to be informed and take the appropriate measures to care for the health of those with Down syndrome. It is essential to undergo proper screenings, evaluations, and assessments to identify potential health concerns while maintaining a healthy lifestyle. In doing so, prioritizing social skills, connecting with others, getting enough sleep, managing stress, engaging in physical activity, and maintaining a nutritious diet is essential. Although certain co-occurring health conditions may be more common in those with Down syndrome, we continue to learn and grow, creating a world that is more and more favorable in the health and lifespan of individuals with Down syndrome.

Be sure to check out our programs calendar on our website to register for the upcoming Family Speaker: Parent University Program night. This program is every fourth Wednesday of every month from 7:00- 8:30pm. It is held both virtually, as well as in- person at the Tampa Playhouse. https://gigisplayhouse.org/tampa/sfcalendar/