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Down Syndrome: Teachers resource

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by

Jess Phillips

on 22 April 2015

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Transcript of Down Syndrome: Teachers resource

Postnatal
Diagnosis
Further tests such as an X-ray on the abdomen to test for gastrointestinal blockages or an Echocardiogram to test for heart defects will be undertaken.
Recent
research
Amniocentesis:
Amniocentesis are undertaken between weeks 15-18 of the pregnancy.
An ultrasound scan is performed throughout the procedure where a needle is inserted into the abdomen and some amniotic fluid is removed.
This fluid contains some of the cells from the baby and can be examined for chromosome 21.
1 in 100 samples do not produce a result, but a second amniocentesis will be offered.
The risk of miscarriage is 1 in 100 or 1%.
Prenatal
Diagnosis
Pathology
Birth defects
(including the heart, atrial/ventricular septal defect)
Cataracts
Celiac disease
Chronic constipation
Dementia
Depression or behaviour issues
(potential ADHD or autism)
Epilepsy
Hearing problems
(Glue ear and regular ears infections)
• Gap between the big and second toe is larger

• Hypertonia (decreased muscle tone, weak muscles in abdomen can cause stomach to stick out)

• One deep crease on palm of hand (Simian fold)

• Physical development is slow

• Short and stocky arms and legs

• Short and wide neck with excess skin at nape

• Short fingers and wide short hands

• Short height
Chromosome 21 contains approx. 310 genes.
Genes tell your body to make different proteins to express different phenotypes, e.g. eye colour.
Each one of these genes will be expressed at a different concentration in each individual.
This causes the many different phenotypes of Downs.
For example, high levels of OLIG1 are linked to learning, memory and brain development. (Chakrabarti et al. 2010)
Parental
Age
Dosage sensitive genes
The
Mutation
How does
this occur?
- Humans normally have 46 chromosomes.
- Chromosomes are essentially the instruction sheets on how our body and brain should be made.
- However people with Down Syndrome have 47 chromosomes.
Facial
Symptoms
Related
medical
conditions
Bodily
Down Syndrome
Genetics
A Teachers Resource
Genetics
Effects on
learning

Click arrows to zoom
and reveal information. After the presentation
you can navigate the resource freely.

Introduction
Down syndrome is a genetic condition, it is the single most common cause of birth defects in humans.
Downs affects 1 in 1000 live births in the UK.
Downs changes the way the body and brain develop.
• Brushfield spots (white spots of coloured parts of eye)

• Eyes slant upwards and the inner corner is rounded not pointed

• Flat back of head

• Flattened nose (specifically the nasal bridge)

• Joints between bones of the skull are not joined (sutures)

• Small and irregular shaped mouth (can cause tongue to stick out)

•Small ears which can be low on the head
Delayed mental
and social
development
Children with Downs can suffer from a short attention span leading to slow learning and impulsive behaviour. As they grow they may start to feel frustrated as the become more conscious of their limitations.
Human karyotype of trisomy 21
Visual and Kinesthetic learning
Sensory
integration
Gross/Fine
Motor skills
Vision
Hearing
Communication
Memory
Concentration
Consolidation
and transference
of skills
Late development of teeth
Risk of dislocation of hips
Short/near sightedness
Sleep apnea
(Due to narrower airways)
Underactive thyroid
(Hypothyroidism)
Vomiting as a baby
(sign of gastrointestinal blockage)
Tests are offered to women of all ages to provide information on whether their child has Down Syndrome.
These tests differ depending on how many weeks pregnant the mother is.
The combined test:
This is undertaken in early pregnancy between 10-14 weeks.
A blood sample from the mother measures the amount of certain natural substances passed through the placenta from the baby.
An ultrasound scan measures the amount of nuchal fluid at the base of the neck, known as the nuchal transparency.
These results are combined with factors such as the family origin, mothers age, smoking habits, weight and weeks of pregnancy to give the risk factor of the child having Downs.
The quadruple test
This test is offered later in pregnancy between 14 to 20 weeks, and can confirm whether the child will have Downs.
Normally only a PCR, Polymerase Chain Reaction, and a full karotype will be taken. A PCR allows the childs DNA to be mapped and counted.
If Down Syndrome is suspected then an amniocentesis and Chorionic Villus sampling, CVS, will be done.
Chorionic Villus Sampling (CVS):
A CVS can be done between 10-22 weeks of the pregnancy, but is normally done between 11-13 weeks.
The test is done on a sample of tissue from the placenta which is identical to the babies tissue.
It is removed and assessed in the same way as the amniocentesis.
2 in 100 samples don't produce a result.
The risk of miscarriage is 1-2 in 100 or 1-2%.
Treatment
Positive effects Strategy

Good visual memory Hands-on resources: images, diagrams, symbols, item matching games and ICT.

Strengths in reading The print can aid development of speech and language.

Tendency to mimic others Mix with typically developed peers as they can act as good role models. However can also copy negative behavior so needs to be kept under close observation.

Negative effects

Poor auditory skills Speech needs to be reinforced visually, eg through sign language, facial expression and body language.
Gross Motor Skills:
Fine Motor Skills:
Trisomy 21
The extra chromosome is chromosome 21.
In some cases the cell only contains part of the extra chromosome.
In all cases there will be extra genetic material from chromosome 21.
This is called a Trisomy 21.
Animation of Gamete formation
An initial diagnosis can be made on the appearance of the child. A blood sample will be taken and analysed. It will be checked for the presence on the extra chromosome 21 by PCR and karyotyping, mentioned previously. This confirms the initial diagnosis.
There is no treatment for Down syndrome. However its symptoms are treatable. After birth the child may have to undergo surgery for gastrointestinal blockage or heart defects. Also advice will be given on preventing obesity, how to breast feed and on how to deal with the associated behavioural issues.
People with Downs also undergo regular screening for the associated medical conditions:
Dental exams every 6 months,
Eye exams every year,
Hearing tests every 6-12 months,
Pap smears and pelvic exams will start by the age of 21 at the latest,
Thyroid tests every year,
X-rays of the spine, upper and cervical regions, between the ages of 3-5.
These tests will vary in intervals for each individual depending on their particular needs and seriousness of their conditions.
Unusual cases
95% of cases are normal full attachments (translocations) of chromosome 21. This is a random mutation where chromosome 21 translocates to another one of the chromosome 21's.

In 3-4% of cases chromosome 21 will not just translocate to itself, but to another chromosome with one short arm and one long arm, an acrocentric chromosome, usually chromosome 14.

The remaining 1-2% of cases are Mosaics. Here some of the person’s cells have the extra chromosome, but others do not. In these cases the individual can be more mildly affected than those with the full trisomy 21.
The likelihood of having a child with Downs increases with maternal age as shown in the graph below. Although less likely, paternal age can also be a factor in approx. 5-20% of cases.
Extra information:
For additional information on prenatal testing and contacts for counseling etc. study pages 8-16 in the document below.
http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Publications/general/Screening_Tests_for_You_and_Your_Baby_2012.pdf
Additional Information
Additional Information
http://dmm.biologists.org/content/4/5/586.long
Click link below for additional information:
To study the full, specific learning profile of children with Downs click on the link below. Pages 3-12 contain information on the different areas of learning, the areas where children are stronger/weaker and strategies to aid the weaker areas.
http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Information/PrimaryEducationPacks2011/unit_1_primary.pdf
Links
http://www.downs-syndrome.org.uk/

http://www.ds-int.org/information

http://www.bbc.co.uk/health/physical_health/conditions/downssyndrome1.shtml

http://www.dseinternational.org/en-gb/
Hover the mouse over the animation and press play.
Nuchal fluid
by Jessica Louise Phillips
1016247 P1010
Full transcript