down syndrom fact sheet

Running Head: FACT SHEET: DOWN SYNDROME 1

Down syndrome

Introduction

Down syndrome is a chromosomal disorder whereby the cells of an individual develop an

extra copy of chromosome 21. The presence of an additional copy of chromosome leads to the

development of three instead of two copies of its genes hence cells lack control in protein

production. The disorder is associated with deficiencies in physical development, learning

disabilities, facial malformations and susceptibility to other disorders like heart diseases. There is

three type of Down syndrom:

- Nondisjunction: it is the most common form of Down Syndrome. Nondisjunction Down

Syndrome is a random occurrence, also known as Trisomy 21, and about 95% of people

with Down Syndrome have Nondisjunction. And it happens when the cells do not equally

divide all of the genetic information resulting in three copies of the 21st chromosome.

- Translocation: which occurs when a part of the 21st chromosome attaches itself to one

of the other chromosomes during the cell division process. there is an extra 21st

chromosome material within the cell. Translocation occurs in 3-4% of individuals with

Down Syndrome.

Mosaic: Mosaic Down Syndrome happens after implantation at some point during early

cell division. People who have this kind of Down Syndrome have two cell lines, one

with the typical number of chromosomes, and one with an extra 21st chromosome.

Diagnosis

Down syndrome can be diagnosed either prenatally or at birth while health professionals

including doctors and nurses have a significant role in this diagnosis. Before a mother gives birth,

FACT SHEET: DOWN SYNDROME 2

screening tests, and diagnostic tests could be used for the check-up. Screen tests such as Triple

Screen and the Alpha-Fetoprotein Plus are used in measuring specific substances in the mother’s

blood providing probability rates for the unborn child having the disorder. Ultrasounds enable

the doctor to examine physical signs on the fetus while the accuracy of the probabilities is

confirmed through diagnostic tests like chorionic villus sampling (CVS), amniocentesis, and

percutaneous umbilical blood sampling (PUBS) to study the baby's chromosomes.

Diagnosis of Down syndrome can also be made after birth whereby the doctor identifies

different physical traits like muscle hypotonia, flat face, single palm crease, large tongue,

abnormal ear shape although the characteristic vary among individuals. A karyotype photo is

always used to make a conclusive diagnosis.

Impacts of Down syndrome

Down syndrome can affect anybody system and their proper functioning. Some of the

affected systems include cardiovascular, digestive, immune, skeletal and the nervous systems.

The cognitive system is profoundly affected by Down syndrome with all individuals with the

disorder experiencing cognitive delays and mental retardation at variable rates. Children with the

disorder experience developmental delays including delays in speech development as well as

delayed motor skills hence they learn different activities like sitting, walking, playing later than

the normal kids. Other effects due to the disorder include a higher risk of congenital heart defects,

thyroid, respiratory and hearing problems seizures and leukemia.

Implications for care

Medical conditions that could arise within the classroom include sleep apnea, loss of

memory, hearing and vision challenges and low speech intelligibility. The natures of children

FACT SHEET: DOWN SYNDROME 3

with Down syndrome by being susceptible to other health problems call for improved parenting.

At home, children may display difficulties in feeding, temperament, sleeping and general

behavior. Delays in development could be a source of concern to the parents while bonding with

others at home could be a challenge (Buckley, 2002). The Medicaid insurance is currently

inclusive for individuals with Down syndrome. Insurance agencies are supposed to cover for

continuous screening tests, while the costs for all other associated conditions should be covered

by the health plan.

Educational implications

Children with Down syndrome display learning difficulties that delay the general growth

of other developmental abilities. Motor development is a challenge that makes individuals

inactive in exploring and responding to the surrounding world. There are delays in the

development of spoken language, speech clarity while grammar use and understanding are a

challenge. The verbal short-term memory of the affected individuals is poor making the process

of learning new vocabulary a challenge. Number skills are also affected by the disorder; hence

children struggle in mathematics teaching.

Children enhance their learning abilities through the incorporation of visual illustrations

with research illustrating that motor skills, language acquisition, and literacy all improve.

Integration of visuals, as well as sign language within the curriculum, will be vital in enhancing

the effectiveness of the education. The utilization of visuals is the main educational intervention

and different types that are used for instance the Picture Exchange System and the sign language.

Inclusive education is essential in supporting and empowering individuals without discriminating

them (Hughes, 2006).

FACT SHEET: DOWN SYNDROME 4

Modification to Interventions

Early intervention is essential therapy for children with Down syndrome since it will help

address deficits like social-communicative skills that are important for general development.

Teachers must liaise with the parents to know any behavioral changes that could affect learning.

The curriculum should be modified by using simple directions, allowing adequate time for

response and giving assignments in small segments. Non-routine activities like field trips and

parties must be avoided from the school environment to prevent draining of the students. Due to

the variability in signs of Down syndrome among individuals, the IFSP and IEP will be made to

suit each one's needs. Different systems could be used according to the needs and approval of the

parent, for instance, communication boards, sign language or Picture Exchange System (Kumin,

2006).

Community Contacts:

The Arc of Greater Cleveland:

• 2421 Community College Ave. Cleveland, OH 44115

• The Arc of Greater Cleveland can assist families and individuals with problems in educational,

residential, and vocational systems.

The Up Side of Downs of Northeast Ohio

• 4807 Rockside Rd. Independence, OH 44131

• The Up Side of Downs’s mission is to provide support, education, and advocacy for people

with Down Syndrome, their families, and communities.

Down Syndrome Association of Central Ohio

• 510 E. North Broadway Columbus, OH 43214

• The Down Syndrome Association of Central Ohio’s mission is to support families, promote

community involvement, and encourage a lifetime of opportunities for people with Down

Syndrome.

FACT SHEET: DOWN SYNDROME 5

Websites

Down Syndrome Education Online - http://www.down-syndrome.org

National Institute of Child Health and Human Development - https://www.nichd.nih.gov

Down Syndrome Education International - http://www.dseinternational.org/en-us/

E Medicine Health - http://www.emedicinehealth.com/script/main/hp.asp

Centers for Disease Control and Prevention -

http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html

National association Down Syndrome http://www.nads.org

––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––––

References

Buckley, S. (2002). Issues for families with children with Down syndrome. Down Syndrome

Issues and Information.

Hughes, J. (2006). Inclusive education for individuals with Down syndrome. Down

Syndrome News and Update, 6(1), 1-3.

Kumin, L. (2006). Speech intelligibility and childhood verbal apraxia in children with Down

syndrome. Down Syndrome Research and Practice, 10(1), 10-22.