Running Head: MANAGEMENT OF DOWN SYNDROME: LITERATURE REVIEW
Down Syndrome: Literature Review
DOWN SYNDROME: LITERATURE REVIEW 2
Introduction
Currently, there is no standard treatment for Down Syndrome (DS); hence, the
management of the disorder always depends on the health (physical and intellectual) needs of
each. Health professionals always deal with medical problems associated with DS for instance
thyroid and hearing challenges and cataracts to ensure that they live a productive life into
adulthood. Most medical interventions focus on speech therapy, occupational therapy, and
exercises to help the victims improve their motor skills. Some families sought complementary
and alternative approaches (CAM), which most have no efficacy and safety evidence. This
literature review focuses on different medical and CAM approaches utilized in the management
of patients with DS.
Early Intervention and Educational Therapy
The first years of life are very significant in a child’s growth since most developmental
changes like physical growth, social and skills language acquisition happen at this stage (Kumin,
2012). Children with DS face delays and deficits in most developmental stages hence the
significance of early intervention strategies that aim to alleviate the delays. Individuals with
Disabilities Education Act (IDEA) mandate early intervention for children and their families.
The focuses on early intervention strategies among children with DS involve physical therapy,
speech and language therapy, and occupational therapy.
Early intervention will entail different therapies that encourage independence and
productivity among patients. Physical therapy is one category that involves exercises that aid in
the building of motor skills as well as improve posture, balance and muscle strength. Physical
therapy is vital in assisting children to interact with their immediate environment. Occupational
DOWN SYNDROME: LITERATURE REVIEW 3
therapy will help an individual to adjust to daily tasks and activities that assist them to meet their
needs. The therapy coaches on self-care skills like eating, writing, and cleanliness. The
occupational therapist will help make the functioning of the victim easier while assisting them to
identify skills and interests that they can base on (Buckley & Le Prèvost, 2002).
Speech-language therapy is essential for children with DS since it helps them enhance
their communication skills. Children with DS face delays in speech development hence this
therapy helps them develop appropriate skills for communication e.g. imitation of sounds. In
cases where there are severe deficits in communication skills, other strategies like sign language
or picture exchange system can be used. Speech-language therapy is vital for children with DS
given that it enables them to grow in social skills and education (Buckley & Le Prèvost, 2002).
Emotional and beh ...
Running Head MANAGEMENT OF DOWN SYNDROME LITERATURE REVIEW .docx
1. Running Head: MANAGEMENT OF DOWN SYNDROME:
LITERATURE REVIEW
Down Syndrome: Literature Review
DOWN SYNDROME: LITERATURE REVIEW 2
Introduction
Currently, there is no standard treatment for Down Syndrome
(DS); hence, the
management of the disorder always depends on the health
(physical and intellectual) needs of
each. Health professionals always deal with medical problems
associated with DS for instance
thyroid and hearing challenges and cataracts to ensure that they
live a productive life into
2. adulthood. Most medical interventions focus on speech therapy,
occupational therapy, and
exercises to help the victims improve their motor skills. Some
families sought complementary
and alternative approaches (CAM), which most have no efficacy
and safety evidence. This
literature review focuses on different medical and CAM
approaches utilized in the management
of patients with DS.
Early Intervention and Educational Therapy
The first years of life are very significant in a child’s growth
since most developmental
changes like physical growth, social and skills language
acquisition happen at this stage (Kumin,
2012). Children with DS face delays and deficits in most
developmental stages hence the
significance of early intervention strategies that aim to alleviate
the delays. Individuals with
Disabilities Education Act (IDEA) mandate early intervention
for children and their families.
The focuses on early intervention strategies among children
with DS involve physical therapy,
speech and language therapy, and occupational therapy.
3. Early intervention will entail different therapies that encourage
independence and
productivity among patients. Physical therapy is one category
that involves exercises that aid in
the building of motor skills as well as improve posture, balance
and muscle strength. Physical
therapy is vital in assisting children to interact with their
immediate environment. Occupational
DOWN SYNDROME: LITERATURE REVIEW 3
therapy will help an individual to adjust to daily tasks and
activities that assist them to meet their
needs. The therapy coaches on self-care skills like eating,
writing, and cleanliness. The
occupational therapist will help make the functioning of the
victim easier while assisting them to
identify skills and interests that they can base on (Buckley & Le
Prèvost, 2002).
Speech-language therapy is essential for children with DS since
it helps them enhance
their communication skills. Children with DS face delays in
speech development hence this
therapy helps them develop appropriate skills for
4. communication e.g. imitation of sounds. In
cases where there are severe deficits in communication skills,
other strategies like sign language
or picture exchange system can be used. Speech-language
therapy is vital for children with DS
given that it enables them to grow in social skills and education
(Buckley & Le Prèvost, 2002).
Emotional and behavioral therapies could also be vital for DS
children expressing
undesirable behaviors such as frustration, compulsive
behaviors, and other mental challenges.
The children are taught on how to respond to different
situations and develop interpersonal skills
that will assist them to interact with others. Parents have a
significant role in these therapies by
teaming up with the professionals to help in the development of
individualized treatment
strategies. Buckley & Le Prèvost (2002) article provides a
guideline and the objectives of
speech-language therapy for the first to fifth years of life. The
guidelines given by these authors
are essential for speech-language therapists since they are
evidence based.
Assistive Devices
5. Children with DS face deficits in cognitive abilities hence they
will take longer to
accomplish most of the tasks. Assistive technologies come in to
help these children complete
their duties easily within and outside school (Black & Wood,
2003). When giving information, it
DOWN SYNDROME: LITERATURE REVIEW 4
is important to stress on the important ones for instance in
written form; it could be bolded,
highlighted, enlarged to catch their focus. Slanted desks, a
three-ring binder turned sideways,
could help DS students with poor mobility within their wrists.
Other devices that could help
individuals with DS may include amplification devices for
hearing problems, touch screen
computers, and unique writing tools.
Black & Wood (2003) illustrate how information
communication technology (ICT) could
be used within the education of people with DS to enhance
different skills like speech and
language, reading, writing, and memory. The authors describe
various modifications to software
6. and hardware that could assist in learning and development. It is
portrayed how ICT can be used
among DS children to increase motivation, enhance the multi-
sensory experience, encourage
non-verbal response mechanisms and help in learning and
feedback.
Drug Prescriptions
Since DS is incurable, drug therapy is never included within
standard care; most of the
drugs administered are for the treatment of pathologies that
come along with DS (Lobaugh et al.,
2001). People with DS are at risk for other medical challenges
like seizures, leukemia, heart and
thyroid defects, muscle, joint, vision, and hearing problems. In
cases of immune system defects
antibiotics could be used to improve the immunity. Endocrine
dysfunction can be managed
through the administration of synthetic thyroxine that boosts the
levels of thyroid hormones.
Those suffering from seizures could take anti-seizure
medications while other health
professionals like cardiologist, optometrist, audiologists and
ophthalmologists will come in if
7. there are challenges within their areas of specialization.Two
drugs Donepezil and Piracetam have
DOWN SYNDROME: LITERATURE REVIEW 5
received much attention due to perceptions that they could
improve cognitive functioning in
children with DS.
Animal studies have illustrated some benefits in learning and
memory with the use of
Piracetam. However, among the human models, the results have
been inconclusive and
inconsistent. Lobaugh et al., (2001) conducted a study to
examine if the use of Piracetam could
enhance cognitive functioning in children with DS. This
research featured twenty-five children
with DS with a randomized double blind and controlled design.
The study confirmed that
Piracetam had no effect on attention, learning or memory but
resulted to adverse effects like
irritability, insomnia, anorexia and aggression. Roizen (2005)
supports the authors work arguing
that scientific conclusive research is needed about the use of
drugs to treat DS since the current
8. ones express a lot of concern on their efficacy and safety.
Complementary and Alternative Medical Care (CAM)
Various approaches that are considered as non-standard
medical approaches have been
utilized in managing DS. Most parents and guardians sought
after alternative medicine with an
objective of maximizing their health and the developmental
potential for instance by enhancing
cognitive function or improving the appearance of their
children. Some of the CAM approaches
for the treatment of DS include the use of nutritional
supplements, cell therapy, hormonal
therapy and plastic surgery. However, most of the CAM
methods used have insufficient or no
evidence-based studies that support their use.
Roizen (2005) dedicates her work into reviewing some of the
studies that have utilized
CAM approaches for the management of DS. Nutritional
supplements are the commonly
exploited CAM approach. This method has a long history from
the 1960s whereby Dr. Henry
DOWN SYNDROME: LITERATURE REVIEW 6
9. Turkel argued that a mixture of 48 ingredients involving the
“U” series of drugs could enhance
intellectual capacity and appearance of children with DS. Some
previous research reported that
the use of supplementary vitamins along with thyroid hormones
could improve the IQ and
physical appearance of children with mental disorders including
DS.
The greatest challenge with the use of nutritional supplements
is that none of the study’s
findings has been replicated with most of the current ones
illustrating that there is no any change
in IQ, appearance and general health of children who use the
approach. Roizen (2005) has also
brought about the use of antioxidants as a CAM method for DS
treatment. Theoretical evidence
implies that an increase in oxidative stress and their elimination
using antioxidants could be
utilized in the pathology of DS.
The presence of a gene within the chromosome 21 could be
vital in coding for superoxide
dismutase (SOD), a key enzyme in the metabolism of oxygen-
derived free radicals to hydrogen
10. peroxide. Immunity in individuals could reduce after an
increase in SOD through two
mechanisms including the reduction of the levels of superoxide
radicals as well as by boosting
hydrogen peroxide, which could impair immune cells.
Inconclusive evidence alludes that there
could be a correlation between oxidative stress and mental
development in people with DS and
this could help in enhancing the mental status of these
individuals (Roizen, 2005).
Another CAM approach is cell therapy, which entails the
administrations of either freeze-
dried or lyophilized cells, a method commonly used in Europe
to manage different conditions.
This therapy was first utilized in the treatment of children with
mental retardation with the
hypothesis that those introduced cells could revitalize the target
organ. Sicca cell therapy is one
type of cell therapy that is alleged to enhance cognitive, motor
and social function; it is also
DOWN SYNDROME: LITERATURE REVIEW 7
purported to improving growth and development of language
among individuals with DS. This
11. type of treatment is illegal within the United States although
some travel to foreign countries to
acquire it. However, no particular clinical research has
illustrated benefits of cell therapy in the
treatment of DS (Roizen, 2005). Another CAM strategy that is
shown by the author includes the
administration of vitamins like vitamin B6, vitamin A, thiamine,
and niacin.
It is easier to recognize a person with DS through their facial
characteristics, for instance,
the presence of epicanthal folds, slanted palpebral fissures,
flattened nasal bridge and a
protruding tongue. According to Leshin (2000), most victims of
DS opt for plastic surgery of the
face to make the above features unrecognizable. Most people go
for plastic surgery so that they
enhance their physical appearance and that they are socially
accepted within the community.
Procedures to be included for the surgery will depend on the
needs of the child.
Most people argue that altering the looks of an individual will
not change the fact that the
person has the disorder since most of the behavioral and
intellectual abilities will not change.
12. One of the surgeries that could be made includes a reduction of
the size (partial glossectomy)
since some exhibit a larger tongue compared to the size of the
oral cavity. Tongue surgery is
mainly done to enhance speech clarity, facilitate chewing and
maintaining proper breathing.
There have been reports of improvement after this operation,
but it remains subjective with a
suggestion that it only improved the aesthetics of speech
(Leshin, 2000).
Another form of surgery the Leshin (2000) distinguish is facial
reconstruction that aims
to enhance the appearance of the face and make it look
“normal.” Some procedures involved in
facial reconstruction include making palpebral fissures
horizontal, removing fats from the neck,
correcting the down-turned lips and lifting the nasal bridge.
Most peers base acceptance of others
DOWN SYNDROME: LITERATURE REVIEW 8
on facial features hence this surgery does not only seek to
augment appearance but also to
supplement social acceptance. There is no particular research
13. associating facial reconstruction to
improved social functioning of the child, and the dilemma is
that some support it while others are
against it.
Roizen (2005) illustrates there are no great differences in
speech intelligibility among
those who undergo surgery and those who do not. She argues
that facial surgery had a little
positive impact since a majority of the parents are not for it.
Most people who victimize people
with Down syndrome base on culture and are the ones who have
never encountered the disorder
and value facial appearance for social acceptance. The subject
of facial plastic surgery for people
with DS is still controversial with most studies offering parent
or societal acceptance as the
rationale for the procedure. This process remains a personal one
while informed decision making
with the help of professionals is essential (Leshin, 2000).
Conclusion
There is no definite cure for DS hence people continue to
experiment with different
alternatives that seem to offer relief from the signs and
14. symptoms that come with the disorder.
The best management of DS would involve activities that base
on educational, medical, language
and social development. Many DS patients are living into
adulthood due to improved medical
care that enables them to become more independent and
discover their identity within the
society. One great area that requires more research and
understanding entails the sequence of the
extra chromosome and the biochemical processes affected by
the additional genetic material.
Since CAM methods still attract a large population, it would be
significant for health
DOWN SYNDROME: LITERATURE REVIEW 9
professionals to increase research in this area to provide clarity
on safety and effectiveness of the
approaches.
DOWN SYNDROME: LITERATURE REVIEW 10
References
Black, B., & Wood, A. (2003). Utilising information
15. communication technology to assist the
education of individuals with Down syndrome. Down Syndrome
Issues and Information.
Buckley, S., & Le Prèvost, P. (2002). Speech and language
therapy for children with Down
syndrome. Down Syndrome News and Update, 2(2), 70-76.
Kumin, L. (2012). Speech & language skills in infants, toddlers
& young children with Down
syndrome. Retrieved June, 11. Retrieved from,
http://www.ndss.org/en/Education-
Development--Community-Life/Therapies--
Development/Speech--Language-Therapy/#infants
Leshin, L. (2000). Plastic surgery in children with Down
syndrome. Down syndrome: Health
issues: News and information for parents and professionals.
Lobaugh, N. J., Karaskov, V., Rombough, V., Rovet, J., Bryson,
S., Greenbaum, R., ... & Koren,
G. (2001). Piracetam therapy does not enhance cognitive
functioning in children with Down
syndrome. Archives of pediatrics & adolescent medicine,
155(4), 442-448.
Roizen, N. J. (2005). Complementary and alternative therapies
for Down syndrome. Mental
16. retardation and developmental disabilities research reviews,
11(2), 149- 155.
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