SUMMARY!

• What is Down Syndrome?

• Chromosomal disorder that causes intellectual disability
• Three types of genetic variation that causes Down Syndrome:
• Trisomy 21
• Translocation Trisomy 2
• Mosaic Trisomy 21
  

• Epidemiology

• Incidence in Malaysia - 1 in every 660 births (from KIWANIS)
• Used to be 1 in 950 in an earlier report published in 1989
• Incidence classified into 3 major ethnic groups:

1. Malay – 1 in 981
2. Chinese – 1 in 940
3. Indians - 1 in 860
   

• Incidence according to age groups of mothers who are pregnant: (refer to graph for wider scale of age groups)

1. If woman is under 30 – less than 1/1000
2. If woman is pregnant at 35 – 1 /200
3. If woman is pregnant at 42 – 1/60
4. If woman is pregnant at 49 – 1 / 12

• About 75% of Down Syndrome babies are born to younger woman and 25% of them to older mothers. This is because mothers tend to have more children at a younger age rather than at an older age.

• Risk Factors:

• If your parents are a carrier (Balanced carrier)
• If your parents have Down Syndrome
• If mothers are pregnant at a higher age, there is an increase in risk to have a baby that has Down Syndrome. (usually over 30 years old there is a significant increase in risk)
  

• Signs and symptoms:

• Signs

1. Postnatal - Physical appearance of baby or child ( eg. Dusky eyes at birth, low muscle tone, flat appearance of the face, small ears, upward slanting eye creases, large tongue etc) This can be used to diagnose a child after birth. However, further tests needs to be followed with to confirm it.

• Associated symptoms :

1. Congenital heart defect and associated early onset of pulmonary of hypertension
2. Alzheimer’s disease
3. Leukemia
4. Obstructive digestive tract
5. Seizure disorders Respiratory problems
6. Disturbance in autonomic nervous system Higher tendency to have: Thyroid problems,colds, bronchial complaints skin rashes, sore lips
   

• Diagnosis

1. Prenatal Screening :

• Maternal Serum Screening: Test for hormones -Alpha-fetoprotein,Estriol , Human chorionic gonadotropin, Inhibin A, PAPP-A
  

• Ultrasound Screening
• Amniocentesis
• Chorionic Villus Sampling
• Percutaneous Umbilical Blood Sampling
• Nonstress test
  

• Treatment and Management.

• Management

 Early intervention programme
 Occupational therapy
 Speech therapy
 Special education (inclusion or mainstreaming)
 Special skills training

• Prevention

 Genetic counseling : The recurrent risk of having another child with Down Syndrome depends on the type of chromosomal defect in the child and the age of the parents.
 General recurrence risk is 1% for most cases
 Family planning