Medical Concerns Associated with Down Syndrome
This material adapted from: Patterson, Bonnie (2003).
"Down Syndrome Medical Issues Research." PowerPoint Presentation
given at Healthcare Symposium. Shriner's Hospital, Lexington, Kentucky,
June 21, 2003.
Persons with Down syndrome are at an increased risk for a number of associated
medical concerns, the most significant of which are outlined below.
Children with Down syndrome all have their own unique personalities.
Historically persons with Down syndrome have been stereotyped as having
placid, amiable, dispositions. Recent studies reflect much more variety
in temperament. An easy temperament alone, however, does not preclude
development of conduct disorders. Any child or person may develop negative
behaviors in certain situations/environments. No area of problem behavior
seems to be specific to Down syndrome. Conduct disorders are the most
frequently reported, with an incidence of between 11 and 12 percent. Difficult
behavior may be precipitated and/or exacerbated by communication difficulties.
It is important for clinicians to remember that although certain behaviors
may appear immature for chronological age, they may not be immature for
developmental age. It is best to consult a professional/therapist experienced
in developmental disabilities when evaluating behavioral issues.
Forty-six to sixty-two percent of persons with Down syndrome
are born with some form of cardiac defect. The most common is Atrioventricular
Septal Defect (59%), followed by Ventricular Septal Defect (19%), Atrial
Septal Defect (9%), Tetralogy of Fallot (6%), Patent Ductus Arteriosis
(4%), and other cardiac abnormalities (3%). Significant defects are typically
discovered and repaired during the first year of life. Despite this early
intervention, some children with such history may require continuing cardiac
care throughout their lives. Additionally, recent studies have suggested
that children and adolescents with Down syndrome frequently demonstrate
mitral valve prolapse or insufficiency, and/or atrial regurgitation. Antibiotic
prophylaxis is recommended for these individuals prior to any surgical
or dental intervention.
Persons with Down syndrome are just as susceptible to depression
as the general population. Specifically, the incidence of depression in
persons with intellectual disability in particular has been estimated
at 6 to 7%.
Depression can occur as a result of current stress (acute), such as the
death of a family member, leaving school, loss of siblings for college
or home, or illness. Depression may also develop as a more chronic condition.
A recent history of the person's life is necessary to define the problem,
if possible, and identify available support systems. Mental health assessment
must accommodate the individual's specific cognitive/developmental level.
It is important that any of the signs and/or symptoms of depression be
closely assessed to determine if they are symptoms of a biological/medical
condition (e.g., seizures, hypothyroidism ) or a condition in itself (i.e.,
depression). Possible signs and/or symptoms of depression include withdrawal,
sadness, sleep disturbances, behavioral changes (either quieting or aggressive),
weight loss or gain, recurrent thoughts of death, lack of energy and/or
feelings of worthlessness. Often the diagnosis of depression is missed
because the family is told that the particular signs/symptoms are just
"Down syndrome." Signs and/or symptoms also might be misinterpreted
as dementia or Alzheimer's disease. It is important when symptoms are
present to consult a therapist experienced in the treatment of individuals
with developmental disabilities. Timely treatment may prevent or diminish
the need for inpatient service.
Many physicians, psychologists and other mental health professionals
currently have had little training in the relationship of psychiatric
conditions to intellectual disability, leaving room for missed or misdiagnosis.
The clinical presentation of depression in persons with Down syndrome
may be quite different from someone without a cognitive deficit.
As the person with Down syndrome ages, mental function and social support
may decrease, creating an opportunity for depression to occur. Adults
with Down syndrome may experience isolation, changes in residence, and
a lack of social opportunities and adaptive skills. All of these factors
contribute to decreased self-esteem, an inability to care for themselves,
and depression. It is often the case that adults with Down syndrome lack
the opportunities to make their own decisions in areas where they are
capable (e.g., social activities, hair style, clothing choice, etc.).
They are often treated as children and thus feel they have little, if
any, control over their lives. Additionally, individuals who care for
adults with Down syndrome may overlook support systems, over-protect the
person, and/or inappropriately take punitive actions toward the person
with Down syndrome.
Dental abnormalities are common in persons with Down syndrome
as well. Common problems include delayed eruption of primary teeth, misshapen
or missing teeth, delayed loss of primary teeth, narrow palate, bruxism
(grinding one's teeth), and periodontal disease. In addition, a small
oral cavity is often seen in young persons with Down syndrome, potentially
resulting in overcrowding of teeth and possible malocclusion. Orthodontic
consultation may be required.
Skin problems are common in young people with Down syndrome.
These may in part be related to immunologic factors (as in alopecia).
Skin texture may be dry and rough. Up to 70% of individuals with Down
syndrome are affected by xerosis (abnormally dry skin) by the teenage
years. Hyperkeratotic lesions, elastic tissue defect, and alopecia areata
are not uncommon. Localized hyperkeratotic lesions frequently occur on
the anterior thighs, ankles, and wrists. Follicular skin infections of
the buttocks, thighs, and perigenital area are more likely to occur in
adolescents with Down syndrome. These infections may progress to abscess
if left untreated. Fungal infections of the feet are frequently seen in
patients with Down syndrome as well. Healthcare counseling should address
preventative measures such as good hygiene, weight control, use of antibiotic
ointments and emollients.
Five percent of persons with Down syndrome experience gastrointestinal
abnormalities. Included in this five percent are Duodenal Stenosis/Atresia
(50%), Imperforate Anus (20%), Hirschsprung Disease (10%), Tracheoesophageal
Fistula (9%), Pyloric Stenosis (6%), Malrotation (4%) and other gastrointestinal
Persons with Down syndrome are at an increased risk for several
immune / infectious disorders, including juvenile rheumatoid arthritis,
alopecia areata, celiac disease, deficiencies of cellular and humoral
immunity, immunoglobulin deficiencies (such as low IgG Subclasses 2 &
4 , with elevated 1 & 3, found in individuals with serious pyogenic
infections), and frequent ENT infections such as nasopharyngitis/sinusitis/otitis
media. Thyroid dysfunction in Down syndrome may be related to autoimmune
factors as well.
Persons with Down syndrome are at high risk for musculoskeletal
abnormalities, including ligamentous laxity and atlantoaxial instability.
In the latter, excess mobility of the articulation of C1 (atlas) and C2
(axis) occurs. Fifteen percent of individuals with DS develop atlantoaxial
instability. Of these 1-2% will develop subluxation and cord compression
in this area. Clinicians should note that there is a higher incidence
of individuals developing atlantoaxial instability during the rapid growth
of adolescence. Cervical evaluation via x-ray is thus in order. Patients
(and parents of children) exhibiting clinical atlantoaxial instability
should be counseled to avoid contact sports, diving, trampoline exercises
and/or other activities which may place undue stress on the neck area.
Occasionally surgical stabilization of the atlas and axis may be required
to prevent neurological compromise from spinal cord compression.
Ophthalmologic disorders are very prevalent among individuals
with Down syndrome. Of these the most common is strabismus, affecting
23 - 44 percent of individuals with Down syndrome. Amblyopia (decreased
vision in one eye) is also common, but less frequent, occurring approximately
12% of the time. Cataracts also occur more frequently in individuals with
Down syndrome. Although usually considered an issue affecting mature adults,
cataract formation typically begins in adolescence, possibly as a result
of the early aging process typically seen. Additionally, 5 to 8 percent
of individuals are affected by keratoconus, or an anterior bulging of
the cornea. Keratoconus is the second most common cause of blindness in
individuals with Down syndrome. Blepharitis (inflammation of the eyelids)
is also relatively common among adolescents, as are nasolacrimal duct
stenosis and nystagmus. Refractive errors are also often present which
may be easily corrected by optical lenses. Due to the increased incidence
of these disorders in persons with Down syndrome, a thorough ophthalmologic
exam is recommended with each check up.
Thyroid disorders are prevalent in persons with Down syndrome,
with hypothyroidism occurring much more frequently than hyperthyroidism.
Autoimmune factors may play a role in the etiology of hypothyroidism in
Down syndrome, although the exact relationship is not completely understood.
Studies have demonstrated that thyroid hormone levels may gradually decrease
during the adolescent years. Symptoms of thyroid dysfunction may thus
become more evident during this time. Thyroid dysfunction may have implications
for multiple systems; cardiovascular, immune, and central nervous system
effects are frequently seen. Undetected hypothyroidism may contribute
to the decline in mental function over time frequently seen in individuals
with Down syndrome, as well as to depression. Thyroid hormone levels should
thus be monitored at least annually in affected individuals.
Other congenital malformations commonly associated with Down
- sensorineural hearing loss;
- ENT / Audiologic disorders such as hearing loss (either sensorineural,
conductive, or mixed);
- midfacial hypoplasia; frequent purulent nasopharyngitis/sinusitis;
- tracheomalacia; tracheal stenosis; and
- frequent croup and obstruction of airways from tonsillar and adenoidal
Sleep apnea is a concern for persons with Down syndrome.
Symptoms of sleep apnea include snoring, sleeping in unusual positions,
and restless sleep. Being overweight may exacerbate symptoms of sleep
apnea due to increased fatty deposits within the pharynx. Midfacial hypoplasia
typically seen in individuals with Down syndrome also contributes to pharyngeal
obstruction. If untreated, sleep apnea can lead to right sided heart failure
and pulmonary hypertension - and may also cause behavior and learning
problems. A sleep study should be used to confirm sleep apnea when suspected.
Treatment includes radio ablative tongue surgery and C-pap.
Pueschel, S.M., and Sustrova, M. (1997). Selected medical
conditions. In S.M. Pueschel & M. Sustrova (Eds.), Adolescents
with Down syndrome: Toward a more fulfilling life (pp. 47-55). Baltimore,
MD: Brookes Publishing
Protective Genes on The 21st Chromosome
Trisomy 21 is protective in two ways; first, a gene present related
to homocystine protects against atherosclerotic heart disease. Therefore,
it is rare for a person with Down syndrome to have a heart attack or stroke;
second, the 21st chromosome houses a tumor suppression gene. Except for
testicular cancer, people with Down syndrome do not develop solid tumors.