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Down Syndrome and Deaf-Blindness
hinder the well-being of both the individual and his or her
family and lead to developmental delay. Dual (or
multiple) diagnoses are the norm rather than the
exception and often occur early in life. Attending to more
immediate health concerns (those requiring surgery, for
example) can mean that the issue of sensory
impairment becomes secondary, which is clearly
unsatisfactory from a developmental point of view.
Congenital heart defects are the most common
health complication associated with Down syndrome,
affecting almost half of those born with the condition.
The most common is atrioventricular septal defect,
occurring in 60 percent of babies born with heart
defects. This occurs when the valves separating the
atrium from the ventricle leak, allowing blood to flow
in the wrong direction. It is a serious problem and
requires surgery shortly after birth. Also common is
ventricular septal defect, which occurs when heart
tissue fails to fuse in the womb, producing holes in
the upper chamber of the heart. Though small holes
usually close themselves, larger ones may require
surgery (Freeman et al., 1998).
Though the precise reasons are unclear, those with
Down syndrome are at a higher risk than the general
population of developing bowel problems such as
celiac disease, a chronic gluten intolerance that causes
the small bowel to become less effective at water and
nutritional absorption (George, Mearin, & Bouquet,
1996). Although those with celiac disease typically
display symptoms including irritability, vomiting, and
undernourishment leading to anemia, those with Down
syndrome often do not exhibit these symptoms and so
are considered to be affected by what has been termed
‘‘silent celiac disease’’ (Lee, 2009). Left untreated, the
disease can lead to stunted growth and even bowel
cancer, and it is therefore important to undergo an
annual test for gluten intolerance to enable a glutenfree
diet to be adopted in the case of a positive
diagnosis (Swigonski, Kuhlenschmidt, Bull, Corkins, &
Downs, 2006).
Epilepsy, characterized by abnormal brain activity
that produces seizures, affects up to 10 percent of
those with Down syndrome compared with 0.5
percent to 0.7 percent of the general population
(Bergin, Sadleir, & Walker, 2008). The onset of the
condition can occur at any age but tends to happen
more during the first 2 years, when the seizures are
generally classed as short infantile spasms lasting a
few seconds (although tonic-clonic seizures do also
100 | AER Journal: Research and Practice in Visual Impairment and Blindness
occur) and during the 20s, when the seizures are
mainly of the tonic-clonic variety (Pueschel, Louis, &
McKnight, 1991). In the majority of cases epilepsy
can be controlled with anticonvulsant medication, but
left untreated it can lead to delayed or regressed
development, which is particularly problematic for
individuals with Down syndrome.
A sleep disorder affecting as much as 45 percent
of children with Down syndrome is obstructive sleep
apnea (OSA), a condition during which the individual
stops breathing for short periods of time—10 to
20 seconds—during sleep (Marcus, Keens, Bautista,
von Pechmann, & Davidson Ward, 1991). Children
with Down syndrome are more likely to have the
condition due to their tendency to have smaller
airways, enlarged adenoids and tonsils, and hypotonia
of the muscles in the throat and upper airways.
Those with OSA tend to snore and to adopt atypical
sleeping positions. Although children with Down
syndrome are prone to fragmented sleep, OSA can
compound the problem by leading to partial or
complete wakenings (Levanon, Tarasiuk, & Tal, 1999).
A lack of sleep can affect optimum daytime functioning,
whereas apneic episodes produce lower blood oxygen
levels and force the heart to work harder, which can
lead to raised blood pressure and a number of heart
problems including strokes. Given the prevalence of
heart defects mentioned previously, this has particularly
serious implications. OSA can be diagnosed
through a comprehensive sleep study, and treatment
includes the removal of tonsils and/or adenoids and the
wearing of a continuous positive airway pressure mask
at night to keep the airways open.
Other health complications affecting those with
Down syndrome include musculoskeletal disorders
(Pueschel & Solga, 1992) and thyroid problems,
either hypothyroidism (which can restrict growth and
produce hypotonia, dry skin, and constipation) or the
rarer hyperthyroidism, which can lead to an
increased heart rate (tachycardia), sweating, and a
decreased attention span. Those with Down syndrome
are also 20 to 50 times more likely to develop
leukemia (Maxson & Daugherty, 1992).
Each of these health complications presents
additional challenges in the care of individuals with
Down syndrome for parents and professionals alike,
particularly because such concerns can take
precedence over activities designed to promote
personal and social development. A higher tendency