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Trisomy 21- Down's Syndrome

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sophie cope

on 9 May 2013

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Transcript of Trisomy 21- Down's Syndrome

Trisomy 21-
Down's Syndrome What is Down's Syndrome? Effects of Down's Syndrome on the child's development How do we test for Down's syndrome in the antenatal period? Down's syndrome affects a person's physical appearance, as well as their ability to learn and develop mentally. It is a lifelong genetic condition and is present at birth. Down's syndrome occurs when a baby inherits an extra chromosome (chromosome 21).

1 in 1000 babies are born with Down's syndrome

(Down's Syndrome association, 2010). Children with down's syndrome will vary in their progression in reading, writing, sitting, standing, walking, communicating and talking.

They are also at greater risk of health complications such as heart disorders, bowel abnormalities, digestive problems, hearing and vision impairments, thyroid dysfunctions, infections, cervical spine dislocation and blood disorders.

(Down's Syndrome Association, 2013) A screening test is offered to all women which indicates which babies are at greater risk of having down's syndrome.

This test includes a blood test and measurements taken from an ultrasound scan. The test offered depends on the gestation of the pregnant woman.

Combined test (blood test and USS) The blood test is done between 10-14+1 weeks gestation and the USS is done between 11+2-14+1 weeks gestation. This scan measures the amount of fluid lying under the skin at the back of the baby's neck. This is called the nuchal translucency measurement.

(UK National Screening Committee, 2012) Characteristics Babies born with down's syndrome have specific physical characteristics from other babies. These are:
Small nose and flat nasal bridge
Small mouth
Eyes that slant upwards and outwards
A big space between the first and second toe (sandal gap)
Broad hands with short fingers
Their palm may only have one crease across it (Palmar crease)
Low birth weight

(Thomas et al, 2005) The 'cereal packet' family (Leach, 1968).
Having a child with Down's Syndrome places great strain on the whole family unit.
Physical conditions, financial issues, social impact and psychological impact.
Affects parents, siblings and other family members such as grandparents.

(Harvey, 2004) Parents Inability to cope?
Feeling lucky?
Case Study- Multip
Gravida 4 Para 3, knew her baby would be born with trisomy 21 condition, very happy to be having this baby, what would the siblings think?
"We cherish every baby we are lucky enough to have in our lives "
But how could this differ for those that are unexpected? 'Welcome to Holland' by Emily Perl Kingsley References Psychological impacts on the family Grandparents and other family members (The extended family) Confusion- what should I say?
Need to act as a role model
The need to support
What are the right and wrong things to say?

(DSA, 2013) Siblings Guilt- about not having a disability
Embarassment- of the child's physical appearance or behaviour
Fear- of developing the disability
Anger or jealousy - over the attention the other child receives
Isolation- no one to talk to or share the experiences with
Pressure- to achieve great things or to compensate for their sibling
The need for information about the disability.
Caregiving- if it conflicts with plans/friendships particularly when they are older.

(Mills et al, 2005) The Family It is important to understand the family unit. Some are 2 parent and some 1 parent.
Extended families e.g. grandparent, aunt, uncle, cousins- emotional and practical support.
Role of the mother and father varies- religion/working demands.
Previous children-confidence?
First child- more time for educating and doing activities?
Siblings-able to teach, lifelong friends, support.
Financial resources-impact on the development of the child.

(DSE-Down's Syndrome Education, 2012) Financial Impacts More GP appointments and check ups
Hospital visits
Extra therapies
Travel costs
Extra activities -aid development

Disability Living Allowance (DLA)
Carer's Allowance
Child tax credit
Working tax credit

(DSA, 2010) Social effects Social inclusion
Education- mainstream school?
Child's behaviour
Extra help needed e.g. SEN services, speech and language therapist, physiotherapist, home teacher, occupational therapist, specialist doctor if needed?

(DSA, 2010)
(Pastor, 1999) What to say ? Avoid phrases like:
"It could be worse"
"Downs syndrome is the best disability to have"
"What do you expect at your age?"
"Why didn't you have any amnio?"
"It only happens to special people"
"I couldn't handle it"
"You must be a saint"
Instead use phrases like:
"She's got your lovely eyes"
"I can see his dad in him!"
"Can I hold him/her?"
"You have my support" To diagnose or not to diagnose.... Amniocentesis
Chronic villi sampling
Risks to the fetus?
Termination of pregnancy?
Psychological effects begin......
How do you think this differs with an undiagnosed baby?

(NHS Choices, 2013) The Midwife's Role Communicator
Recommendations for practice Quiz On average ? in 1000 babies are born with downs syndrome
What is the name of the extra chromosome they have?
What is the main risk of amniocentesis and chronic villi sampling?
Name 3 health complications a person with down syndrome may have...
Name 5 physical features of a downs syndrome baby... Browne, K. (2006) ‘Families and Households’ in Brown, K (ed.) Introducing Sociology for AS level : 2nd ed. Cambridge: Polity Press, pp.85-86.
Down’s Syndrome Association (DSA) (2010) ‘Information for parents: Down’s Syndrome’ Available at: http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Publications/education/information_for_parents_down_syndrome_2010_ed.pdf (Accessed: 26/04/13).
Down’s Syndrome Association (DSA) (2013) ‘Down’s Syndrome: Someone I love has had a baby with Down’s Syndrome-I don’t know what to say’ Available at: http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Publications/general/Friends_and_Family.pdf (Accessed: 26/04/13).
Down’s Syndrome Education Online (DSE) (2012) ‘Issue for families with children with Down’s Syndrome’ Available at: http://www.down-syndrome.org/information/family/overview/?page=2 (Accessed: 27/04/13).
Harvey, B. (2004) ‘Down’s syndrome: a biopsychosocial perspective’, Nursing standard, 18(30), pp.43-45, EbscoHost CINAHL Plus with Full text [Online] Available at: http://0-ehis.ebscohost.com.brum.beds.ac.uk/ehost/pdfviewer/pdfviewer?vid=9&sid=f8c8b247-7afb-4f17-b75c-9075561df351%40sessionmgr14&hid=2 (Accessed: 26/04/13).
Mills, S. and Creed, W. (2005) ‘Information Sheet- Siblings’, Available at: http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Publications/general/Siblings.pdf (Accessed: 26/04/13).
NHS Choices (2013) ‘ Screening and diagnostic tests for Down’s syndrome’ Available at: http://www.nhs.uk/conditions/pregnancy-and-baby/pages/screening-amniocentesis-downs-syndrome.aspx (Accessed: 01/05/13).
Pastor, C.G. (1999) ‘Inclusion: A committed form of working in school ‘ in Down syndrome: a review of current knowledge ed. Rondal, J., Perera, J., and Nadel, L. (1999) pp.79-89, Whurr Publishers Ltd, London.
Thomas, R. and Harvey, D. (2005) Paediatrics and Neonatology in focus, London: Elsevier Churchill Livingstone Limited.
UK National Screening Committee (2012) ‘Screening tests for you and your baby’ pp.16-31. Available at: http://www.downs-syndrome.org.uk/images/stories/DSA-documents/Publications/general/Screening_Tests_for_You_and_Your_Baby_2012.pdf (Acessed: 24/04/13).
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