Down Syndrome

Trisomy 21

What is Down Syndrome? It is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. The most frequently occurring chromosomal abnormality. It is named after John Langdon Down, the British physician who described the syndrome in 1866.

INCIDENCE
It occurs in about 1 in 800 live births. It occurs most frequently in the pregnancies of women who are older than 35 years of age. Paternal age (older than 55 years) may also contribute to the increased incidence of this age group.

DISTINCT CHARACTERISTICS
Physical features: Nose is broad and flat. Eyelids have an extra fold of tissue at the inner canthus (epicanthal fold). Palpebral fissure (opening between the eyelids) tends to slant laterally upward. The iris of the eye may have white specks in it (Brushfield spots).

 Even in the newborn, the tongue may protrude from the mouth because the oral cavity is smaller than normal. The back of the head is flat. Neck is short. And an extra pad of fat at the base of the head causes the skin to be so loose it can be lifted up (like a puppys skin). Low-set ears. Poor muscle tone, giving the baby a ragdoll appearance. This can be so lax that the childs toe can be touched against the nose.

 Fingers are short and thick, and the little finger is often curved inward. There may be wide spaces between the first and second toes and between the first and second fingers. Palm of the hand shows a peculiar crease (simian line) which a single horizontal palm crease rather than the normal three creases in the palm.

Others:
Individuals with Down syndrome usually have low intelligence, ranging from mild to moderate disabilities. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Lifespan usually is only 50-60 years because ageing seems to occur faster than normal.

Nursing Diagnosis
1. Potential for Injury due to: Poor vision and hearing Hypotonia

2. Risk for infection related to increased susceptibility for illness secondary to compromised immune system and heart disease. 3. Risk for self care deficit related to inability to do adequate ADLs due to hypotonia, mental retardation. 4. Activity Intolerance related to cardiac condition

Gabriela has down syndrome. Fabio has small mental retardation caused by a problem at the time of birth. The couples daughter, Valentina, was born on March 19, 2008 with no disability.

Being happy does not always mean everything is perfect. This means that it has decided to look beyond the imperfections.