How to care about a Downs Syndrome child

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How to care about a Downs 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 Downs Syndrome

• Trisomy 21 extra chromosome is in
  pair 21
• 95 of the cases
• Translocation extra chromosome is in
  pair 14, 21 or 22
• 3-4 of the cases
• Mosaicism cellular division after
  conception
• 1 of the cases

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Recognition of the Downs 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 DSand 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

• 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 Downs Syndrome

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• Confirmation
• inform immediately the family
• - explain the Downs Syndrome characteristics,
  stressing the positive aspects
• - inform about the absence of medicinal
  treatment, showing ways of improving the childs
  development
• - avoid strict and long-term prognosis

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Parents phases of adaptation

• Shock
• Denial
• Guilt
• Anger
• Adaptation
• Back to normal life

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Parents

• Accept the disability
• Recognize the childs capacities
• Psychomotor stimulation (essential!!!)
• Integration in the social life
• Create relationships with families in the same
  situation
• Be in touch with Downs 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