Pediatric Genetics, Development, and Respiratory Care Lecture

A comprehensive set of vocabulary flashcards covering major genetic disorders, developmental issues, sensory conditions, and respiratory topics discussed in the lecture.

Genetic testing

Laboratory analysis of DNA, chromosomes, or metabolites to diagnose inherited disorders.

Chromosomal analysis (karyotype)

Microscopic evaluation of chromosome number and structure to detect aneuploidies or large rearrangements.

DNA sequencing

Determining the precise order of nucleotides within a gene to identify pathogenic variants.

Biochemical genetic test

Assay that measures enzyme activity or metabolite levels to infer specific metabolic disorders.

Newborn screening

Population-based testing of infants for treatable genetic/metabolic diseases shortly after birth.

Cystic fibrosis (CF)

Autosomal-recessive disease caused by CFTR mutations leading to thick mucus and multisystem obstruction.

CFTR gene

Gene encoding the cystic fibrosis transmembrane conductance regulator chloride channel; mutations cause CF.

Sweat chloride test

Diagnostic test for CF; chloride ≥ 60 mmol/L in sweat confirms disease.

CFTR modulators

Medications (e.g., ivacaftor) that improve function of defective CFTR protein.

Pancreatic enzyme replacement

Enteric-coated lipase/protease capsules taken with meals to aid digestion in CF.

Meconium ileus

Neonatal intestinal obstruction often first sign of cystic fibrosis.

Sickle cell disease (SCD)

Autosomal-recessive β-globin mutation producing HbS, RBC sickling, vaso-occlusion, and hemolysis.

Hemoglobin electrophoresis

Laboratory separation of hemoglobin types; used to confirm SCD or trait.

Hydroxyurea

Drug that raises fetal hemoglobin (HbF) to reduce pain crises in SCD.

Vaso-occlusive crisis

Painful episode in SCD caused by microvascular obstruction from sickled erythrocytes.

Genotype

Individual’s genetic makeup at a specific locus or across the genome.

Phenotype

Observable traits or clinical presentation resulting from genotype and environment.

PKU (Phenylketonuria)

Autosomal-recessive PAH deficiency causing toxic phenylalanine accumulation.

Phenylalanine hydroxylase (PAH)

Enzyme that converts phenylalanine to tyrosine; deficient in PKU.

Low-phenylalanine diet

Lifetime nutritional therapy restricting high-protein foods to prevent PKU complications.

Trisomy 21 (Down syndrome)

Presence of an extra chromosome 21 leading to characteristic features and intellectual disability.

Mosaic Down syndrome

Down syndrome variant in which only a proportion of cells carry the extra chromosome 21.

Type 1 diabetes mellitus

Autoimmune destruction of pancreatic β-cells resulting in absolute insulin deficiency.

HbA1c

Glycated hemoglobin test reflecting average blood glucose over ~3 months.

Insulin therapy

Exogenous insulin administration required to control blood glucose in type 1 diabetes.

Tay-Sachs disease

Autosomal-recessive HEXA deficiency with GM2 ganglioside accumulation and neurodegeneration.

Hexosaminidase A

Lysosomal enzyme absent in Tay-Sachs disease.

Galactosemia

Autosomal-recessive GALT deficiency causing inability to metabolize galactose.

GALT enzyme

Galactose-1-phosphate uridyltransferase; absent or deficient in classic galactosemia.

Cataract (galactosemia)

Lens opacity that may require surgical removal in untreated galactosemia.

Developmental delay

Failure to achieve language, motor, social, or cognitive milestones at expected age.

Temper tantrum

Normal toddler behavior expressing frustration; managed with consistent limits and choices.

Regression

Temporary reversion to earlier developmental behaviors during stress or illness.

Child life specialist

Professional who uses play and education to ease pediatric health-care experiences.

Bicycle safety (preschool)

Helmet use, supervision, traffic rules, proper bike size to prevent injury.

Signs of child abuse

Unexplained injuries, sudden behavioral change, sexual knowledge beyond age, fear of adults.

Mandatory reporting

Legal duty of healthcare professionals to report suspected child abuse to authorities.

Otitis media

Middle-ear infection common in children due to eustachian tube anatomy.

Myringotomy tubes

Ventilation tubes placed in tympanic membrane for recurrent otitis media.

Otitis media with effusion

Fluid behind eardrum without acute infection; monitor for hearing impact.

Otitis externa

Inflammation of external ear canal (“swimmer’s ear”) treated with otic drops.

Strabismus

Misalignment of eyes; includes esotropia (inward) and exotropia (outward).

Cover test

Eye exam to detect strabismus by alternately covering each eye.

Retinoblastoma

Pediatric retinal tumor linked to RB1 mutation; presents with leukocoria.

Leukocoria

White pupil reflex often first sign of retinoblastoma.

Enucleation

Surgical removal of eye for advanced retinoblastoma to save life.

Lead poisoning

Toxic lead exposure causing irreversible cognitive deficits in young children.

ADHD

Neurodevelopmental disorder with inattention, hyperactivity, and impaired executive function.

Fragile X syndrome

X-linked CGG expansion causing intellectual disability and behavioral problems.

Croup

Viral laryngotracheitis producing barky cough and inspiratory stridor in young children.

Epiglottitis

Rapidly progressive bacterial infection of epiglottis; drooling and airway emergency.

Laryngotracheobronchitis

Most common form of viral croup caused by parainfluenza or RSV.

Inspiratory stridor

High-pitched breath sound indicating upper airway obstruction.

Respiratory Syncytial Virus (RSV)

Leading cause of bronchiolitis; high-risk infants receive palivizumab prophylaxis.

Palivizumab

Monoclonal antibody given monthly to prevent severe RSV in high-risk infants.

Airway obstruction signs

Stridor, retractions, cyanosis, restlessness, seesaw breathing pattern.

Asthma

Chronic inflammatory airway disease with hyperresponsiveness and reversible obstruction.

Short-acting β2 agonist (SABA)

Rapid bronchodilator (e.g., albuterol) used as rescue medication in asthma.

Long-acting β agonist (LABA)

Bronchodilator lasting ~12 h; always combined with inhaled corticosteroid for control.

Peak flow meter

Portable device measuring expiratory flow to monitor asthma severity.

Mouth rinse after steroids

Action preventing oral thrush when using inhaled corticosteroids.

TB negative-pressure room

Isolation room with airflow preventing airborne Mycobacterium tuberculosis spread.

Pertussis

Bordetella pertussis infection causing paroxysmal “whooping” cough.

Airborne precautions

Use of N95/PAPR, negative pressure, limited transport for diseases like TB.

Influenza

Acute viral illness prevented by annual vaccination; treat early with antivirals.

Pancreatic enzymes (CF)

Digestive supplements taken with meals to absorb nutrients in cystic fibrosis.

Chest physiotherapy

Percussion and postural drainage techniques to mobilize mucus in CF.

Pharyngitis

Inflammation of throat; rapid strep test differentiates viral vs GABHS infection.

Rapid streptococcal antigen test

Point-of-care swab identifying Group A strep within minutes.

Allergic rhinitis

IgE-mediated nasal inflammation causing sneezing, congestion, and itching.

Foreign body aspiration

Inhalation of object into airway, common in toddlers, may require bronchoscopy.