MENTAL RETARDATION
01/06/2004
Facts
Approximately 2-3% of population is mentally retarded.
The cause of mental retardation can be identified in 50-60% of cases.
The most common causes of mental retardation include:
- Chromosome abnormalities: 20-24%
- Down syndrome: 17%.
- Fragile X syndrome: 3%
- Metabolic disorders 2-5%.
- Pre/post-natal environmental causes: 10-15%.
Acts
Prevention:
1. Prenatal screening (Triple Test): Maternal serum screening for Down syndrome, Trisomy 18 and neural tube defects.
2. Prenatal diagnosis: by Amniocentesis or CVS.
3. Neonatal screening: for hypothyroidism, PKU and galactosemia.
Diagnosis:
Clinical genetic assessment.
Blood Chromosomes.
Fragile X DNA testing.
Metabolic screening (Including all aminoacids, organic acids, fatty acids and galactosemia).
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