Down Syndrome

Down Syndrome- Definition

• Down syndrome is a condition resulting from
having an extra chromosome 21 in some or all
of the cells
• Marked by growth, developmental, and
learning dealys that very from mild to severe
Pathophysiology
 Pathophysiology/Etiology continued

• Different ways of inheriting trisomy 12

• 1) nodisjunction
• 2) translocation down syndrome (inheritable)
• 3) Mosaic trisomy 21 – rare, when an error in
cell division happens after the egg s fertilised
• People with this inheritance have both normal
cells and some with extra chromosome 21
 Clinical feature
• Short height
• Flat face and short nose
• Slanted eyes and almond shape
• Small ears
• Short neck
• Protruding tongue
• Small hands and feet, deep single transverse crease
• Muscle weakness
• Loose joints
• Heart defects
• Other associated problems
Clinical feature continued
 Management/Treatment
• There is no treatment for downsyndrome itself but we can treat the associated conditions
such as:
– Heart defects
• Medicine
• Surgery
• Investigation (echocardiogram, to treat in first 2 months)
– Intestinal problems
• Surgery (?)
– Vision problems
• Glasses
• Eye surgery before 1 year
– Hearing Loss
• Regular hearing tests to help with speech
– Other health problems
• Thyroid problems
• Leukemia
• Recurrent colds (such as bronchitis) and pneumonia
• Get regular check up and up to date on vaccines
– Learning problems
• Mild, moderate or severe
• Early intervention
 Complication
• Birth defects
• Problems with vision and hearing
 Prevention/ follow-up
• Perinatal counselling
• Regular follow-up
• Multisystem management as necessary
 References
• 1. National Cancer Institute. Down Syndrome.
[Internet], n.d. (cited on July 2, 2023). Available from
https:/publications/dictionaries/cancer-terms/def/do
wn-syndrome
• 2. Google immages
• 3. Stanford Medicine: Children’s Health. Down
Syndrome (trisomy 21) in children. [Internet]. N.d.
(cited on July 2, 2023). Available from
https:/www.stanfordchildrens.org/en/topic/default?
id+down-syndrome-trisomy-21-90-P02356