down syndrome

By Tenille and Ashley

“People with Down Syndrome should not be seen as different but as people who happen to have some additional needs.”

(Sue Buckley, The Down Syndrome Educational Trust, UK)

There are people with Down Syndrome in every society in the world.

Named after John Langdon Down, the man who first described it, Down syndrome is a genetic condition.

It is caused by the presence of an extra chromosome, a structure that carries the genetic information in each cell. (Routh, 2005,p4)

There are three forms of Down Syndrome: - Trisomy 21: - The most common kind of Down Syndrome

accounting for around 95% of all cases. Every cell in the body has an extra chromosome 21.It is not a hereditary condition.

Mosaic Down Syndrome: - This occurs in 1 -2% of people with Down Syndrome. It can result in a milder level of intellectual disability and less obvious physical characteristics to the other forms of Down Syndrome.

Translocation Down Syndrome: - part of chromosome 21 is broken off and is then attached (translocated) onto another chromosome. This form is uncommon occurring in about 3 -4% of cases.

Genetic tests can show what type of Down Syndrome a baby has.

http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Down_syndrome_explained

People unaffected by any chromosomal condition are born with 46 chromosomes in each cell (22 pairs plus 2 sex chromosomes). After conception, the fertilised egg begins to divide. Each new cell will have a matching set of chromosomes and each cell will therefore, have the same genetic code as the first cell. In Down Syndrome the chromosomes in the very early cells do not pair off correctly, and the baby begins to develop with 47 chromosomes. As a result of the extra chromosome, 1 of 3 types of Down syndrome can occur.

http://dsawa.asn.au/what-is-down-syndrome.html

Due to translocation trisomy 21, it is because one of the two parents may be a balanced carrier of the translocation.

The incidence of Down Syndrome rises with increasing maternal age

Researches have established that the likelihood that a reproductive cell will contain an extra copy of chromosome 21 increases dramatically as a women ages. Therefore an older mother is more likely than a younger mother to have a baby with Down Syndrome.

http://www.nichd.nih.gov/publications/pubs.downsyndrome.cfm#DownSyndrome

Relationship Of Down Syndrome Incidence To Mothers Age

Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age

Mothers Age Incidence Down Syndrome

Under 30 Less then 1 in 1,000

30 1 in 900

35 1 in 400

36 1 in 300

37 1 in 230

38 1 in 180

39 1 in 135

40 1 in 105

42 1 in 60

44 1 in 35

46 1 in 20

48 1 in 16

49 1 in 12

People with Down Syndrome look like their parents, brothers and sisters just as much as everyone else does. How ever, there are some common characteristics that tend to be shared by those with Down Syndrome. These include: -

Looser muscles and joints which make the baby seem ‘floppy’. The correct medical term for this is hypotonia.

A rather flat face with a flattened bridge in the nose

Eyes that tend to slant upwards and outwards. Those are often folds of skin between the lids in the corner of the eyes. The correct term being ‘epicanthic’ folds.

A small mouth, which seems to make the tongue stick out.

Broad hands with short fingers. The little finger may curl in a bit and there may be only a single crease across the palm

The feet may show a deep space between the first and second toe. The crease is known as a ‘scandal gap’.

A lower than average birth – weight and length. ( Routh, 2005, 17)

Down Syndrome affects, but does not determine, development and achievement in a person. People with Down Syndrome demonstrate a wide range of capabilities. What happens after birth will be far more

important in shaping the outlook for a person with Down Syndrome than the

occurrence of the extra chromosome at conception.

(http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Down_syndrome_explained

)

Physical Milestones(Routh, 2005, p25)

Milestone Child with Down

Syndrome

Other Children

Holds Head Steady

3 – 9 months 1 – 4 months

Sits Alone 6 – 16 months 5 – 9 months

Reaches out and Grasps object


Passes object from hand to hand


Stands Alone 1 – 3 years 9 – 16 months

Walks alone 1 – 4 years 9 – 17 months

Builds a tower of two cubes

1 – 3 years 10 – 19 months

Copies a circle 3 – 5 years 2 – 3 years

A child with Down Syndrome may be 2 or 3 years old before he or she says their first words, but that does not mean that they have not been communicating. All infants learn to express themselves through sounds and gestures before they can use real words, and this is true of children with down syndrome, too.

Using sign language as well as speech can really improve communication between a child with down syndrome and his or her parents.

Due to small muscles in the tongue, face and throat (more ‘floppy’) it is much more difficult for children with Down Syndrome to form words that other people can understand. In many cases a child with Down Syndrome will see a speech therapist who is trained to help develop correct speech.

(Routh, 2005, p26)

Social development and social learning are strengths right from infancy- the children enjoy and learn from social interactions with adults and peers.

Most children with down syndrome make eye contact, smile and interact by cooing and babbling from the first months of life, and show little delay in social interactive skills.

They are socially sensitive and understand the nonverbal cues to emotions, such as facial expression, tones of voice and body postures, from the first year of life.

Their good social understanding and empathy leads them to pick up on non-verbal emotional cues, such as those for anxiety or disapproval, very quickly. They are therefore sensitive to failure and may use behavioural strategies to avoid difficult situations.

(http://www.down-syndrome.org/information/development/early )

Working memory development specifically delayed relative to non verbal abilities, particularly the verbal short term memory component – so that learning from listening is difficult for the children.

Visual and spacial processing and memory are relative strengths – so that the children learn effectively from visual information – they can be thought of as visual learners.

Reading ability is often a strength from as early as 2 years of age or more perhaps because it builds on visual memory skills, reading activities can be used to teach spoken language from this time

Number seems relatively more difficult for children with down syndrome and their number skills delayed relative to reading skills

(http://www.down-syndrome.org/information/development/early)

Make the area clear of tripping hazards Place brail on different things e.g. toilet so they know

where they are going Ensure lighting is bright and clear in all areas Ensure plenty of space available to move around Modify equipment and resources to support different

heights of the child e.g. tables, chairs, sinks, toilets

Include a support worker with the child everyday for every aspect of the program

Group times: - ensure use signs and lines to help direction and moving around in large spaces, provide a persona doll incorporate into group time.

Language times: - Reinforce speech with facial expression, sign or gesture. Use visual back up e.g. print, pictures, concrete materials

Music time: - teach grammar through the printed word’ flash cards, games, pictures and symbols

Outdoor play: model activities – allow children to watch others and follow their own play

Routines: - Work with families to maintain the structure of the routine just like home and adapt to the service as much ad possible

Provide a support worker for the entire time the child is at the service

Visual materials; cards, posters, brail put up on walls Persona Doll to help with feelings and behaviour

management Equipment that is easy to use e.g. Large tapping sticks for

music, easy drinking cups, easy access, playground equipment

It is essential that services and the wider community work in partnerships with parents and families to address their needs. For parents and families partnerships means: -

They have access to accurate and relevant information Their knowledge and expertise is valued Their role as key decision makers is supported Support processes and assistance are clear and coordinated Services are responsive to the child’s learning and

developmental priorities, family needs and cultural diversityFor services to be successful partners with families, the

service needs to be responsive, creative and flexible, respectful and have a knowledge of the needs and individuality of the families

(http://www.jobaccess.gov.au/JOAC/Advice/DisabilityOne/Down_Syndrome.htm)

Parent Guidance Service On – going support Library Newsletter Social Activities New Parent support Ongoing Support Service Information Folder Grandparents Group Support for teachers Speech and language programs

Book:

Routh, K. 2005 Need to know Down’s Syndrome. Heinemann Library, Halley Court, Jordan Hill. Oxford

Internet sources: Down Syndrome Education International. 1996, down syndrome online

<http://www.downsyndrome.org> ( updated 1st July 2009, first accessed 24th August 2009)

Better Health Channel. 1999, fact sheet- down Syndrome explained <http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Down_syndrome_explained> (updated February 2009, first accessed 12th august 2009)

USA.gov. 2008, Down Syndrome

<http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm#DownSyndrome> (last updated 15/08/2008, first accessed 18th August 2009)

Government of South Australia.2009, About the Department <www.decs.sa.gov.au>

(last updated 21st January 2009, first accessed 12th august)