Question

Describe two epidemiologic characteristics that are associated with Down syndrome. In your own opinion and in light of these epidemiologic associations, what preventive measures could be taken?

Answer 1

Down syndrome 47,+21

Down syndrom is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects. This occurs due to non-disjunction at 21, resulting in the addition of an extra copy of chromosome 21. This leads to trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46.

Characteristics -

1. Health problems - heart defect, hypothyroidism, celiac disease, respiratory infections, eye and hearing problems, dental problems
2. Physical problems - Short stature, weak muscles or hypotonia, irregularly shape face, slanted eyes

Three potential primary prevention strategies -

1. Avoiding reproduction at advanced maternal age,
2. Pre-implantation genetic diagnosis for couples who are at high risk of Down's syndrome, and
3. Folic acid supplementation.