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.