down syndrome child
TRANSCRIPT
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
History• 1866, London – 1st clinical description
by John Langdon Down - incorrectly known as mongolism
• 1959, Paris – recognized as a genetic disease by Lejeune & Jacobs
What is it?
•Autosomal trisomy
•47 chromosomes
one extra copy of chromosome 21
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
Recognition of the Down’s Syndrome Baby
• Face– Flat occiput
(brachycephaly)– Small nose with low nasal
bridge– Almond shaped eyes– Small ears
- Macroglossia - Myopia
• Hands and feet– Single palmar crease– Incurved little finger with single crease– Wide space between 1st and 2nd toes
• 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.
A baby with DS…and now what?
Abortion• Pre-natal diagnosis
Carry on with the pregnancy
• Post-natal diagnosis: “What do I do…?”
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”
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
Parents’ phases of adaptation
1. Shock
2. Denial
3. Guilt
4. Anger
5. Adaptation
6. Back to normal life
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
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