Down Syndrome Child
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Transcript of Down Syndrome Child
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How to care about a Down’s Syndrome
child?
Charles University in Prague - 2nd Medical School
Medical Biology 2006/2007
By: Leonor Madeira
Madalena Fernandes
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History• 1866, London – 1st clinical description
by John Langdon Down - incorrectly known as mongolism
• 1959, Paris – recognized as a genetic disease by Lejeune & Jacobs
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What is it?
•Autosomal trisomy
•47 chromosomes
one extra copy of chromosome 21
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Types of Down’s Syndrome
1. Trisomy 21: extra chromosome is in pair 21
95% of the cases2. Translocation: extra chromosome is in
pair 14, 21 or 223-4% of the cases
3. Mosaicism: cellular division after conception1% of the cases
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Recognition of the Down’s Syndrome Baby
• Face– Flat occiput
(brachycephaly)– Small nose with low nasal
bridge– Almond shaped eyes– Small ears
- Macroglossia - Myopia
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• Hands and feet– Single palmar crease– Incurved little finger with single crease– Wide space between 1st and 2nd toes
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• Other characteristics- Generalised hypotonia- Undersized compared to children the same age- Late development- Cardiac and intestinal structural disorders - Weak joints- Sterile males- Majority of females are fertile - Certain degree of mental retardation - High risk of leukaemia, Alzheimer's and hypothyroidism in old age.
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A baby with DS…and now what?
Abortion• Pre-natal diagnosis
Carry on with the pregnancy
• Post-natal diagnosis: “What do I do…?”
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Telling the news
1. Suspicion - given by the doctor closest to the family- use of clear language, speaking without
rushing
- justify the reason of the request for the
chromosomal test - mention the name “Down’s Syndrome”
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2. Confirmation
– inform immediately the family
- explain the Down’s Syndrome characteristics, stressing the positive aspects
- inform about the absence of medicinal treatment, showing ways of improving the child’s development
- avoid strict and long-term prognosis
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Parents’ phases of adaptation
1. Shock
2. Denial
3. Guilt
4. Anger
5. Adaptation
6. Back to normal life
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Parents
• Accept the disability • Recognize the child’s capacities • Psychomotor stimulation (essential!!!)• Integration in the social life• Create relationships with families in the
same situation• Be in touch with Down’s Syndrome support
associations• Find orientation and treatment with
professionals
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References
Books• Zitelli, B.J./Davis,H.W.; Atlas of Pediatric Physical Diagnosis,
3rd edition, 1997, Mosby-Wolfe.
Web• Google• Wikipedia• www.psicologia.com.pt• http://www.malhatlantica.pt/ecaecm/Down.htm