Down Syndrome

Pathophysiology
Usually people are born with 46
chromosomes, but those with Down
syndrome are born with an extra 21st
chromosome (Ball and Bindler, 2015).
There are three types of Down syndrome:
1)Trisomy 21- The most common. Every
cell in the body has an extra 21st
chromosome (Ball and Bindler, 2015).
2)Translocation Down syndrome- There
is an extra 21st chromosome, but it may
be attached to other chromosomes (Ball
and Bindler, 2015).
3)Mosaic Down syndrome- Some cells
have an extra 21st chromosome and
others do not (Ball and Bindler, 2015).

(n.d.). Retrieved September 22, 2015, from

http://anthro.palomar.edu/abnormal/images/Down_Syndrome_Karyotype
.jpg

Physical
Characteristics
oFlattened
Face
oAlmond eyes
oSmall ears, hands and feet
oSingle Palmar Crease
oShorter neck and stature
oTongue that tends to stick out of
mouth
(Facts about Down Syndrome,
2014)

Down Syndrome. (n.d.). Retrieved September 22, 2015, from

http://wiki.ggc.edu/wiki/Down_Syndrome

Developmental Delays
Physical developmental delay
Cognitive developmental delay
Language developmental delay
Social and self help delay

(Early Intervention, 2012)

Early Intervention. (n.d.). Retrieved September 22, 2015, from http://www.ndss.org/Resources/Therapies-Development/Early-Intervention/

Patient Care
Care for a child with Down syndrome will be similar to other nursing
care, but needs to include basic genetic and genomic aspects in
assessment, gathering history, and observation (Ball and Bindler, 2015).

This basic knowledge and understanding will ensure that appropriate

assessment, care, and resources are provided, and that appropriate
referrals to genetic specialists are made (Ball and Bindler, 2015).

It is also very important to assess and identify the psychosocial

expectations and needs of this patient and their family, as well as
coping mechanisms used (Ball and Bindler, 2015).

Continually advocating and supporting this patient population and their

family, is another key aspect of care (Ball and Bindler, 2015).

Patient Teaching and

Interventions
Important to inform parent that child may not progress to each developmental
stage in the timeframe of a normal child, so to not focus on when they get to
each milestone, but that they make it to each milestone (Early Intervention,
2012).

Early Intervention programs such as physical therapy, speech and language

therapy, and occupational therapy are important to help Down syndrome
children reach their full potential (Early Intervention, 2012).

There are many valuable resources available to help parents understand the
disorder as well as how to care for their child with Down syndrome, as nurses
we can help connect them to this information (Early Intervention, 2012).

Referrals to geneticists and further testing can be done, as appropriate (Early

Intervention, 2012).

Hospital Policies
There is standard prenatal screening for Down syndrome
done for all mothers (Maternal Fetal Medicine, 2015).

Pediatric geneticists are available to discuss and explain

genetic complications such as Down syndrome, along with
available resources (Pediatric Genetics, 2015).

Can be referred to developmental and special needs

pediatrics to help manage childs genetic disorder (Pediatric
Genetics, 2015).

Long Term Complications

More Common

Less Common

Hearing loss

Intestinal blockage

Obstructive sleep apnea

Hip dislocation

Ear Infections

Thyroid disease

Eye diseases

Anemia

Heart Defects

Leukemia

(Facts about Down Syndrome,

2015)

Hirschsprung disease
(Facts about Down Syndrome, 2015)

Primary Level of Prevention

Advanced maternal age (>35 y.o.)
increases risk of Down syndrome and
other genetic complications (Ball and
Bindler, 2015).

The role of the nurse would be to

ensure individuals trying to conceive
during this time period are properly
informed of the increased risk of
genetic complications, or if
appropriate encourage individuals to
try and conceive before this time to
prevent the risk of genetic
complication (Loane, M., et al., 2013).

(n.d.). Retrieved September 22, 2015, from http://www.babymed.com/sites/default/files/middle aged pregnant couple.jpg

Secondary Level of
Prevention
o Screening options include:
o Blood tests (MS-AFP, Triple Screen, Quad Screen)
o Ultrasound (to see if there is fluid behind the babies
neck).

o There is also another blood test available that screens

the mothers blood for fragments of the babies blood to
test for genetic disorders like Down syndrome.
(Facts about Down Syndrome, 2014)

Diagnostic options include:

o Chorionic Villus Sampling- samples from the placenta.

o Amniocentesis- samples from the amniotic fluid.
o Percutaneous Umbilical Blood Sampling- samples from
the umbilical cord.

These tests are completed so if positive for genetic

abnormalities the parents can make informed decisions on
whether to continue with the pregnancy or how to prepare
for their special needs child. Also to monitor for any
potential complications .
(Facts about Down Syndrome, 2014)

(n.d.). Retrieved September 22, 2015, from

http://www.downsyndromeprenataltesting.com/wpcontent/uploads/2013/03/Revised-PT-guidelines.jpg

Tertiary Level of Prevention

o After being diagnosed with Down syndrome, there are a
couple of other common disorders that should be tested for
including: hearing loss and vision loss, intestinal block,
heart defects, obstructive sleep apnea, thyroid disorders,
etc., because they are at higher risk for these issues.

o The following may aid in bridging the gaps in

developmental delay:
o Physical Therapy
o Speech and Language Therapy
o Occupational Therapy

National Down Syndrome Society - The National

Advocate for People with Down Syndrome Since 1979.
(n.d.). Retrieved September 22, 2015, from
http://www.ndss.org/

o May need extra help or attention in school (Teaching

Assistants), because this patient population requires extra
nurturing and guidance to help reach their full potential.

o Get them involved in the community and support groups.

(National Down Syndrome Society, Special Olympics,
etc.)

o For these families to be able to help their special needs

child reach their full potential, they must have the
appropriate education and resources to do so, and it is our
job to provide them.

(Early Intervention, 2012).

(n.d.). Retrieved September 22, 2015,

from
https://lh3.googleusercontent.com/qCmjIUfn3Ro/AAAAAAAAAAI/AA
AAAAAAAAA/DBFNixbRMwk/s0c-k-no-ns/photo.jpg

(n.d.). Retrieved
September 22,
2015, from
http://www.downrig
htspecial.co.uk/syst
em/ckeditor/elFinde
r/files/images/down
right special
education/prof
photos 009.jpg

(n.d.). Retrieved September 22, 2015, from http://noahsdad.com/wp-content/uploads/2011/11/baby-down-syndrome-downs-heart-test-6

640x358.jpg

Evidence Based Practice

The following scholarly articles show:
The increased risk of Down syndrome and other genetic
disorders when trying to conceive at an advanced maternal age
(>35 y.o.)
The benefits of physical therapy
The benefits of speech and language therapy
The benefits of occupational therapy.

Article #1
Objective: To study the number of trisomy
infants born to mothers of advanced
maternal age (>35 y.o.), in Europe.
Methods: 10,000 births were registered,
including live births, spontaneous abortions,
and elective abortions. The number of
normal, trisomy 21, trisomy 18, and trisomy
13 were recorded.
Results: Out of the 10,000 infants, there were
22 trisomy 21 infants, 5 trisomy 18 infants,
and 2 trisomy 13 infants. This is a rise from
10% to 19% in the number of trisomy births
from 1990 to 2009.
Conclusion: The rise in maternal age has led to
the rise in number of trisomy pregnancies.
Further research of prenatal screening
discrepancies is needed.
(Loane, M., et al, 2013)

(n.d.). Retrieved September 22, 2015, from

http://www.nature.com/ejhg/journal/v21/n1/full/ejhg201294a.html

Article #2
Objective: To study the effects of early
promotion of perceptual-motor experiences
(interaction, sitting, locomotion) on
development.
Methods: Comparing recent research on the
effects of early physical interventions on
development.
Results: Research shows that various means of
getting special needs children interacting
with the environment early on, improves
cognitive and physical development.

(n.d.). Retrieved September 22, 2015, from http://noahsdad.com/wpcontent//2012/09/baby-treadmill-therapy-down-syndrome-640x360.jpg

Conclusions: With early perceptual-motor

experiences, broader development can be
seen, as well as smaller discrepancies in
developmental delay, among special needs
children. The benefits are seen short term as
well as long term.
(Lobo, et al, 2013)
(n.d.). Retrieved September 22, 2015, from
http://i.ytimg.com/vi/Npgd8YHDiC8/maxresdefault.jpg

Article #3
Objective: To study the effects of speech and
language interventions on children with
Down syndrome.

(n.d.). Retrieved September 22, 2015, from

http://webs.cdn.dsegroup.org/images/photos/reading/boy-matchingwords-3-300w.jpg

Methods: 57 children with Down syndrome

were provided with teaching assistants for
40 minute sessions every day. The results
were reviewed at 20 and 40 weeks.
Results: The children who received the
teaching assistants showed significant
improvements in reading and language
skills, compared to the control group at 20
weeks and remained ahead at 40 weeks.
Conclusions: The use of teaching assistants
improved reading and language skills of
children with Down syndrome.
(Burgoyne, K., et al, 2012)
n.d.). Retrieved September 22, 2015, from http://www.parramattaspeech.com.au/wpcontent/uploads/2012/02/P1247868-400x320.jpg

Article #4
Objective: To study the benefits of
occupational therapy with Down
syndrome children.
Methods: A survey and two in depth phone
interviews of occupational therapists
caring for pediatric patients in Australia.
Results: Eleven therapists participated that
had taken care of at least one mentally
disabled child and the areas requiring
intervention included play, activities of
daily living, communication, and gross
and fine motor skills.
Conclusion: Improvements were seen in
Down syndrome children who
participated in occupational therapy,
with regards to play, activities of daily
living, and gross and fine motor skills.
(Dall'alba, L., et al., 2014).

(n.d.). Retrieved September 22, 2015,

from http://www.reab.me/wpcontent/uploads/2013/12/batata3.jpg

(n.d.). Retrieved
September 22, 2015, from
http://www.cdn.sciencebu
ddies.org/Files/1566/9/Hu
mBio_career_img092.jpg

(n.d.). Retrieved September 22, 2015, from

https://mpcms.blob.core.windows.net/41584407-f5ea-4567-9f67-

Recommendations for Nursing

Practice
As suggested, the role of the nurse to provide superior care to
a Down syndrome pediatric patient and their family should be:
Develop a basic knowledge and understanding of genetic
influence on pediatric development, assessment, and care.
Educate, support, and encourage parents with Down syndrome
children in the appropriate care of their child.
Help provide appropriate resources and referrals for parents to be
able to provide care and activities that help child reach full
potential.
Encourage further screening for common long term complications
associated with children with Down syndrome.
(Ball&Bindler, 2015)

References
Ball, J., & Bindler, R. (2015). Genetic and Genomic Influences. In Principles of pediatric nursing: Caring for children (Sixth ed., pp. 55-72). Hoboken,
New

Jersey: Pearson.

Burgoyne, K., Duff, F., Clarke, P., Buckley, S., Snowling, M., & Hulme, C. (2012). Efficacy of a reading and language intervention for children with Down
syndrome: A randomized controlled trial. Journal of Child Psychology and Psychiatry, 53(10), 1044-1053. doi:10.1111/j.1469-7610.2012.02557.x

Dall'alba, L., Gray, M., Williams, G., & Lowe, S. (2014). Early Intervention in Children (06 Years) with a Rare Developmental Disability: The
Occupational Therapy Role. Hong Kong Journal of Occupational Therapy, 24(2), 72-80. http://dx.doi.org/10.1016/j.hkjot.2014.12.001

Down Syndrome. (n.d.). Retrieved September 22, 2015, from http://wiki.ggc.edu/wiki/Down_Syndrome

Early Intervention. (2012). Retrieved September 22, 2015, from

http://www.ndss.org/Resources/Therapies-Development/Early-Intervention/

Facts about Down Syndrome. (2014). Retrieved September 22, 2015, from http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Loane, M., Morris, J., Addor, M., Arriola, L., Budd, J., Doray, B., Garne, E.(2013). Twenty-year trends in the prevalence of Down syndrome and other
trisomies in Europe: Impact of maternal age and prenatal screening. Eur J Hum Genet., 27-33. doi:10.1038/ejhg.2012.94

References
Lobo, M., Harbourne, R., Dusing, S., & Mccoy, S. (2012). Grounding Early Intervention: Physical Therapy Cannot Just Be About Motor Skills
Anymore. Physical

Therapy, 93(1), 94-103. doi:10.2522/ptj.20120158

Maternal fetal medicine. (2015). Retrieved September 22, 2015, from

http://richmond.bonsecours.com/our-services-bon-secours-for-women-birth-and-parenting-high-risk-care-maternal-fetal-medicine.html

National Down Syndrome Society - The National Advocate for People with Down Syndrome Since 1979. (n.d.). Retrieved September 22, 2015, from
http://www.ndss.org/

Pediatric genetics. (2015). Retrieved September 22, 2015, from

http://richmond.bonsecours.com/our-services-childrens-services-pediatric-specialty-care-genetics.html

(n.d.). Retrieved September 22, 2015, from http://anthro.palomar.edu/abnormal/images/Down_Syndrome_Karyotype.jpg

(n.d.). Retrieved September 22, 2015, from http://www.babymed.com/sites/default/files/middle aged pregnant couple.jpg
(n.d.). Retrieved September 22, 2015, from http://www.downsyndromeprenataltesting.com/wp-content/uploads/2013/03/Revised-PT-guidelines.jpg
(n.d.). Retrieved September 22, 2015, from
https://lh3.googleusercontent.com/-qCmjIUfn3Ro/AAAAAAAAAAI/AAAAAAAAAAA/DBFNixbRMwk/s0-c-k-no-ns/photo.jpg

(n.d.). Retrieved September 22, 2015, from http://www.downrightspecial.co.uk/system/ckeditor/elFinder/files/images/downright special

References
(n.d.). Retrieved September 22, 2015, from
http://noahsdad.com/wp-content/uploads/2011/11/baby-down-syndrome-downs-heart-

test-6-1-640x358.jpg

(n.d.). Retrieved September 22, 2015, from http://www.nature.com/ejhg/journal/v21/n1/full/ejhg201294a.html

(n.d.). Retrieved September 22, 2015, from
http://noahsdad.com/wp-content//2012/09/baby-treadmill-therapy-down-syndrome-640x360.jpg

(n.d.). Retrieved September 22, 2015, from http://i.ytimg.com/vi/Npgd8YHDiC8/maxresdefault.jpg

(n.d.). Retrieved September 22, 2015, from
http://webs.cdn.dsegroup.org/images/photos/reading/boy-matching-words-3-300w.jpg

(n.d.). Retrieved September 22, 2015, from

http://www.parramattaspeech.com.au/wp-content/uploads/2012/02/P1247868-400x320.jpg

(n.d.). Retrieved September 22, 2015, from http://www.reab.me/wp-content/uploads/2013/12/batata3.jpg

(n.d.). Retrieved September 22, 2015, from
http://www.cdn.sciencebuddies.org/Files/1566/9/HumBio_career_img092.jpg

(n.d.). Retrieved September 22, 2015, from

https://mpcms.blob.core.windows.net/41584407-f5ea-4567-9f67-6fc5998617f6/img/prd/ fb758c10-8629-453f-a36a8cb3e187d7da/theraplay-71-640x427-.jp

Honor Pledge
I have neither given nor received aid, other than
acknowledged, on this assignment or test, nor have I seen
anyone else do so. ~ Amelia Cornelius