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Al Borg Technical Newsletters
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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