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down syndrome-03.ppt for B. Sc Nursing students
- 1. Down syndrome Mrs. Ujjwala Murkute Lecturer, SVCON
- 2. Introduction • Down syndrome is also known as trisomy 21 is most common chromosomal abnormality • The baby with Down syndrome has three copies of chromosomes instead of 2 thus total chromosome number 47 • It is named after John Langdon Down, the British physician who described the syndrome in 1866 • In most cases chromosome is inherited from mother due to abnormality in egg • These children have characteristic appearance and learning disabilities
- 3. Facial characteristics • Causes – Elderly mother (above 35 yrs.) – Some drugs and environmental factors may also cause chromosomal anomalies • Symptoms – Mongoloid appearance and mental retardation – Short stature (4 feet) – Floppy limbs – Round face with full cheeks – Upward slant of eyes – Protruding tongue – Flattening of the back of head – Excess skin on back of neck – Short broad hands with single transverse crease on the palm
- 5. • Mental retardation with IQ ranging between 25- 50 (normal?) • Slow in learning to walk, talk, learning disabilities • They cheerful and affectionate • Complications – Congenital heart defects – Atresia in GI tract – Hypothyroidism – Serous otitis media – Instability of joints – Increased risk of Alzheimer's disease – Males are sterile while females are fertile but rarely produce offspring
- 6. Diagnosis • Prenatal testing at 15-18 weeks (triple marker) • If test showed increased risk, amniocentesis • Ultrasound to look for abnormalities at 16 weeks Treatment • Stimulation for improving mental capabilities • Proper home care • Physical therapy • Speech therapy • Special educational programs • Medical attention to health problems • Involvement in support groups Prognosis • Most of kids lead happy life • Learn to read and write, vocational training • May not be able to live independently , needs long term supervision • 1 in 5 kids dies in childhood (heart disease), those who reach middle age have risk of Alzheimer’s disease