5.3 BNU2363 Paediatric Nursing: Caring for Special Needs: Down Syndrome (DS)

Practice flashcards covering definitions, causes, clinical manifestations, medical problems, screening, and nursing management of Down Syndrome.

Down's Syndrome (DS)

A chromosomal anomaly where a person has an extra copy of chromosome 21, resulting in $47$ chromosomes instead of the usual $46$.

Complete Trisomy 21

The most common cause of Down Syndrome, characterized by non-disjunction during meiosis where an egg receives two $21^{st}$ chromosomes, resulting in three once fertilized.

Translocation Trisomy 21

A form of Down Syndrome where extra material from a third $21^{st}$ chromosome is attached to another chromosome; it may occur before or after conception and can be inherited.

Mosaic Trisomy 21

The least common form of DS, occurring after conception for unknown reasons, where only some cells have an extra copy of chromosome 21.

Advancing maternal age

A primary risk factor for Down Syndrome; the risk increases with age (e.g., $1 \text{ in } 100$ at age $40$ and $1 \text{ in } 10$ at age $49$).

Brushfield spots

Small, typically white spots arranged in a ring on the colored part of the eye (iris).

Epicanthal fold

An upper eyelid skin fold that covers the inner corner of the eye, a facial characteristic of Down Syndrome.

Muscle Tone at Birth

Clinical manifestation of Down Syndrome often characterized by being decreased (hypotonia).

Gastrointestinal Blockage

Birth defects associated with DS such as oesophageal atresia and duodenal atresia which may require major surgery immediately after birth.

Hypothyroidism

An underactive thyroid condition associated with Down Syndrome that requires thyroid function to be discussed annually starting from age $1 \text{ year}$.

MS-AFP

Stands for Maternal Serum Alpha-Fetoprotein, a screening blood test used during pregnancy to identify potential Down Syndrome.

Chorionic Villus Sampling (CVS)

A diagnostic test that examines material from the placenta to confirm a Down Syndrome diagnosis after a positive screening.

Amniocentesis

A diagnostic test that examines the amniotic fluid from the sac surrounding the baby to look for chromosomal changes.

Percutaneous Umbilical Blood Sampling (PUBS)

A diagnostic test that examines blood from the umbilical cord to identify chromosome changes.

Delayed Growth and Development

A nursing diagnosis related to chromosomal abnormality and cognitive impairment, evidenced by slow learning and a short attention span.

Echocardiogram

A formal heart assessment required for children with Down Syndrome by age $6 \text{ weeks}$ to check for defects like atrial or ventricular septal defects.

Audiological Review

Hearing checks recommended starting from a universal newborn screen, with a full review including impedance check by $10 \text{ months}$.

Endocarditis Prevention

The use of antibiotics in children with Down Syndrome to prevent heart infections.