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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Page 1: Down Syndrome Child

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

Page 2: Down Syndrome Child

History• 1866, London – 1st clinical description

by John Langdon Down - incorrectly known as mongolism

• 1959, Paris – recognized as a genetic disease by Lejeune & Jacobs

Page 3: Down Syndrome Child

What is it?

•Autosomal trisomy

•47 chromosomes

one extra copy of chromosome 21

Page 4: Down Syndrome Child

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

Page 5: Down Syndrome Child
Page 6: Down Syndrome Child

Recognition of the Down’s Syndrome Baby

• Face– Flat occiput

(brachycephaly)– Small nose with low nasal

bridge– Almond shaped eyes– Small ears

- Macroglossia - Myopia

Page 7: Down Syndrome Child

• Hands and feet– Single palmar crease– Incurved little finger with single crease– Wide space between 1st and 2nd toes

Page 8: Down Syndrome Child

• 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.

Page 9: Down Syndrome Child

A baby with DS…and now what?

Abortion• Pre-natal diagnosis

Carry on with the pregnancy

• Post-natal diagnosis: “What do I do…?”

Page 10: Down Syndrome Child

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”

Page 11: Down Syndrome Child

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

Page 12: Down Syndrome Child

Parents’ phases of adaptation

1. Shock

2. Denial

3. Guilt

4. Anger

5. Adaptation

6. Back to normal life

Page 13: Down Syndrome Child

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

Page 14: Down Syndrome Child
Page 15: Down Syndrome Child

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