Down Syndrome: Monitoring, Features, and Pathophysiology — Vocabulary

Vocabulary flashcards covering key Down syndrome concepts, health risks, and related cellular biology terms discussed in the lecture.

Down syndrome

A chromosomal condition caused by trisomy 21; features include hypotonia, characteristic facial features, and increased risk of certain health problems.

Trisomy 21 (complete)

All body cells have three copies of chromosome 21.

Mosaic Down syndrome

Some cells have three copies of chromosome 21, while others have two.

Translocation Down syndrome

Extra material from chromosome 21 attached to another chromosome; not all cells have full trisomy.

Simian crease

A single transverse palmar crease across the palm.

Macroglossia

Enlarged tongue.

Hypotonia

Low muscle tone.

Advanced maternal age

Older age (often >35) associated with higher risk of having a child with Down syndrome.

Congenital heart defects

Heart defects present at birth; common in Down syndrome (e.g., AV canal, ASD, VSD).

Leukemia

Increased risk of blood cancers in individuals with Down syndrome.

Immune deficiency

Weakened immune system increasing susceptibility to infections.

Sleep apnea

Breathing interruptions during sleep, common in Down syndrome.

Hypothyroidism

Thyroid dysfunction that can occur in Down syndrome; thyroid screening is recommended.

Vision problems

Increased risk of refractive errors and other eye issues; regular eye exams advised.

Hearing problems

Increased risk of hearing loss; regular hearing assessments recommended.

Gastrointestinal problems

Gastrointestinal issues common in Down syndrome (e.g., feeding difficulties, GI anomalies).

Delayed speech and language development

Speech and language development often slower; intervention can support communication.

Physical therapy

Therapy to improve motor skills, strength, and mobility.

Occupational therapy

Therapy to develop daily living and fine motor skills.

Speech therapy

Therapy to improve speech and language abilities.

Immunization

Routine vaccines given on schedule to protect against infections, especially important due to immune deficiency risk.

Prognosis

Expected course and outcome of the condition; life expectancy has improved with multidisciplinary care.

Chorionic Villus Sampling (CVS)

Prenatal test to obtain placental tissue for fetal karyotype analysis.

Amniocentesis

Prenatal test to obtain amniotic fluid for fetal karyotype analysis.

Karyotype

Chromosome analysis to determine number and structure of chromosomes, used to confirm Down syndrome.

Ischemia

Tissue injury due to lack of oxygenated blood supply.

Hypertrophy

Increase in the size of cells, leading to enlarged tissue or organ.

Hyperplasia

Increase in the number of cells, causing tissue enlargement.

Metaplasia

Replacement of one mature cell type with another, usually due to irritation; may be reversible.

Dysplasia

Abnormal growth with disordered cell maturation; may be premalignant.

Anaplasia

Loss of differentiation; immature, undifferentiated cells typically seen in malignant tumors.

Neoplasia

New, abnormal growth of tissue; can be benign (non-cancerous) or malignant (cancerous).

Benign

Non-cancerous tumor that does not invade nearby tissues or metastasize.

Malignant

Cancerous tumor capable of invasion and metastasis.

Apoptosis

Programmed cell death; orderly elimination of damaged or unnecessary cells.

Necrosis

Irreversible cell or tissue death due to injury.

Gangrene

Necrosis of tissue accompanied by infection or loss of blood supply.

Primary prevention

Actions taken to prevent disease before it occurs (e.g., health promotion, vaccination).

Secondary prevention

Screening and early detection to reduce disease severity or complications.

Tertiary prevention

Management to reduce complications and improve quality of life after disease onset.