literature review (down syndrom )
Running Head: MANAGEMENT OF DOWN SYNDROME: LITERATURE REVIEW
Down Syndrome: L iterature 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 languag e 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 differen t 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 c leanliness. 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 comm unication 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 a nd 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
Children with DS face defic its 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 import ant 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 devic es 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 educati on of people with DS to enhance different skills like speech and
language, reading, writing, and memory. The authors describe various modifications to software
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 p roblems. 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 c ould take anti -seizure medications while other health
professionals like cardiologist, optometrist, audiologists and ophthalmologists will come in if
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) sup ports t he authors work arguing
that scientific conclusive research is needed about the use of drugs to treat DS since the current
ones express a lot of concern on their efficacy and safety.
Complementary and Alternative Medical Care (CAM)
Various approach es 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
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 cou ld 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 th at 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 stres s 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
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 ev idence 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 introduce d 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
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 tha t 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 pal pebral 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 phy sical 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
perso n has the disorder since most of the behavioral and intellectual abilities will not change.
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 c avity. 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 aestheti cs 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 palpeb ral 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 s ocial acceptance. There is no particular research 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
rati onale 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
alternat ives that seem to offer relief from the signs and 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 affe cted 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
Bl ack, B., & Wood, A. (2003). Utilising information 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/#in fants
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
retardation and developmental disabilities research reviews , 11 (2), 149 - 155.