Genetic Conditions & Pediatric Respiratory Overview

These vocabulary flashcards review genetic disorders (Down syndrome, Fragile X), associated assessments and therapies, and key pediatric respiratory concepts, anatomy, and infection management.

Down syndrome

Genetic condition caused by an extra copy of chromosome 21, producing characteristic physical features and intellectual disability; most common chromosomal anomaly in the United States.

Trisomy 21

Most common form of Down syndrome in which every cell contains three complete copies of chromosome 21.

Translocation Down syndrome

Type of Down syndrome in which part of chromosome 21 becomes attached to another chromosome; represents about 3 % of cases.

Mosaic Down syndrome

Form of Down syndrome with a mixture of normal (two-copy) and trisomic (three-copy) cells, leading to milder manifestations (~2 % of cases).

Advanced maternal age

Increased maternal age at conception that raises the risk of having a child with Down syndrome.

Chorionic villus sampling (CVS)

Prenatal diagnostic test performed at 10–14 weeks’ gestation that analyzes placental tissue for chromosomal abnormalities.

Amniocentesis

Prenatal procedure conducted after 15 weeks’ gestation that samples amniotic fluid to examine fetal chromosomes.

Percutaneous umbilical blood sampling

Invasive prenatal test that withdraws fetal blood from the umbilical cord to detect chromosomal or blood disorders.

Single palmar crease

Single transverse crease across the palm frequently observed in individuals with Down syndrome.

Obstructive sleep apnea (OSA)

Disorder featuring repeated upper-airway obstruction during sleep; common comorbidity in Down syndrome.

Early intervention

Therapeutic services begun in the first month of life to enhance development in children with conditions such as Down syndrome.

Genetic counseling

Professional guidance that educates families about inheritance patterns, testing options, and risks for genetic conditions like Down syndrome and Fragile X.

Fragile X syndrome

Most common inherited cause of developmental and intellectual disability, resulting from mutation of the FMR1 gene on the X chromosome.

FMR1 gene

Fragile X messenger ribonucleoprotein gene whose mutation leads to Fragile X syndrome by reducing FMRP protein production.

Macroorchidism

Abnormally large testes seen in post-pubertal males with Fragile X syndrome.

Pes planus

Flat feet; musculoskeletal feature often present in Fragile X syndrome.

Joint laxity

Excess looseness or hypermobility of joints, characteristic of individuals with Fragile X syndrome.

Individualized Education Plan (IEP)

Customized educational document outlining goals and support services for students with disabilities such as Fragile X syndrome.

Recurrent otitis media

Frequent middle-ear infections; common comorbidity in children with Fragile X syndrome.

Upper respiratory tract

Portion of the respiratory system comprising the nasopharynx, pharynx, and larynx.

Lower respiratory tract

Respiratory structures from the trachea downward, including bronchi, bronchioles, and alveoli.

Obligate nose breather

Infant who primarily breathes through the nose during the first 2–6 months of life.

Adventitious breath sounds

Abnormal lung sounds—such as wheezes or rales—heard during auscultation.

Wheezing

High-pitched musical breath sound, usually on expiration, caused by narrowed airways in conditions like asthma or viral infection.

Rales (crackles)

Popping or crackling sounds heard when alveoli contain fluid, as in pneumonia or pulmonary edema.

Acute respiratory infection (ARI)

Sudden-onset infection of the respiratory tract spread by droplets or contact; incubates 1–3 days and lasts 4–10 days.

Upper respiratory infection (URI)

ARI limited to the nose, pharynx, or larynx; most common in children under five and typically viral.

Incubation period

Time from pathogen exposure to symptom onset; 1–3 days for common respiratory viruses.

Tachypnea

Abnormally rapid respiratory rate, indicating possible respiratory distress.

Retractions

Inward pulling of chest wall muscles during inspiration, signifying increased work of breathing.

Nasal flaring

Widening of the nostrils during inhalation; early indicator of respiratory distress.

Hypercapnia

Elevated carbon-dioxide level in the blood that can accompany severe respiratory infections.

Chest X-ray (CXR)

Radiographic image of the chest used to assess lung pathology in moderate to severe respiratory illness.

Complete blood count (CBC)

Laboratory test measuring red cells, white cells, and platelets; helps evaluate infection or anemia in ill children.

Hand hygiene

Effective washing or sanitizing of hands to prevent transmission of infectious agents.

Vaccination

Administration of immunizing agents during well-child visits to prevent respiratory and other infectious diseases.

Well-child visit

Routine pediatric appointment focusing on preventive care, growth monitoring, and health education.

Sensory processing difficulties

Challenges interpreting sensory input, common in Down syndrome and Fragile X, affecting behavior and development.

Care coordinator (nurse)

Healthcare professional who organizes multidisciplinary services to ensure comprehensive care for children with complex needs.