UKOM Sp.A key terms

A 0–10 rating assigned at 1 and 5 minutes after birth, summing heart rate, respiratory effort, muscle tone, reflex irritability, and color; it guides resuscitation response but does not predict later neurologic outcome.

Controlled cooling of a newborn with moderate-to-severe hypoxic-ischemic encephalopathy to 33–34 °C for 72 hours, started within 6 hours of birth, to reduce death and neurodevelopmental disability.

Brain injury in a newborn caused by impaired oxygen and blood flow around birth, staged clinically by severity of tone, feeding, seizures, and consciousness; moderate and severe stages are candidates for cooling therapy.

Respiratory distress in a newborn born through meconium-stained fluid, with patchy infiltrates and air trapping; routine intrapulmonary suctioning is not recommended, and management is supportive with oxygen and ventilation.

Instillation of exogenous surfactant into the trachea of a premature infant with respiratory distress syndrome to lower surface tension, improve lung compliance, and reduce pneumothorax and mortality.

Neonatal lung disease from surfactant deficiency, presenting with tachypnea, grunting, retractions, and ground-glass chest radiograph soon after birth; antenatal corticosteroids and early surfactant are central to prevention and treatment.

Delivery of pressurized gas through nasal prongs or mask to keep the airways and alveoli open in a spontaneously breathing infant, reducing work of breathing and need for intubation in respiratory distress.

Chronic lung disease of prematurity defined by continued oxygen requirement at 36 weeks postmenstrual age, resulting from ventilator and oxygen injury to an immature lung; it predicts later wheezing and readmission.

Betamethasone or dexamethasone given to a mother at risk of preterm delivery before 34 weeks to accelerate fetal lung maturation, reducing respiratory distress syndrome, intraventricular hemorrhage, and neonatal death.

Bleeding into the germinal matrix and ventricles of a very preterm infant, graded I to IV by ultrasound; severe grades cause hydrocephalus and cerebral palsy, and prevention centers on antenatal steroids and avoiding hemodynamic swings.

Gestational age at birth plus chronological age after birth, expressed in weeks; it defines when chronic lung disease or retinopathy of prematurity is assessed and anchors dosing and developmental expectations in infancy.

Chronological age minus the number of weeks born before 40 weeks of gestation; used until about 2 years to judge growth and development of a preterm child against term norms.

A standardized screening tool comparing a child's personal-social, fine motor-adaptive, language, and gross motor skills with age norms; a failed or questionable screen prompts formal developmental assessment.

A ratio of developmental age to chronological age multiplied by 100, derived from a developmental scale; scores well below 70 suggest significant delay and warrant etiologic evaluation.

Significant delay in two or more developmental domains in a child under 5 years, an operational label used before formal cognitive testing is feasible; it prompts metabolic, genetic, and neuroimaging evaluation.

The most common inherited cause of intellectual disability, from CGG repeat expansion in FMR1 on the X chromosome; boys show delay, large ears, macroorchidism, and autism features, and carrier mothers risk premature ovarian failure.

The tendency of certain repeat-expansion disorders to appear earlier and more severely in successive generations, as in fragile X syndrome, myotonic dystrophy, and Huntington disease; it affects genetic counseling of families.

A laboratory display of an individual's chromosomes arranged by size and banding pattern, detecting aneuploidy, large deletions, duplications, and translocations; it does not resolve changes smaller than about 5–10 megabases.

A genome-wide test measuring copy-number gains and losses at kilobase resolution, first-line for developmental delay, autism, and multiple congenital anomalies; it detects pathogenic copy-number variants in roughly 10–15 percent of such children.

Population testing of dried blood spots shortly after birth for treatable congenital disorders such as congenital hypothyroidism, phenylketonuria, and hemoglobinopathies, aiming to start therapy before irreversible harm occurs.

Autosomal recessive deficiency of phenylalanine hydroxylase causing phenylalanine accumulation and, if untreated, intellectual disability; detected by newborn screening and managed with a phenylalanine-restricted diet and tetrahydrobiopterin in responsive patients.

A fatty acid oxidation defect presenting in infancy with hypoketotic hypoglycemia and lethargy during fasting or illness; management is avoiding fasting, providing glucose during illness, and carnitine supplementation in selected cases.

Thyroid hormone deficiency present at birth, most often from thyroid dysgenesis; newborn screening enables treatment within the first weeks, preventing the irreversible intellectual disability that untreated disease causes.

Measurement of thyroid-stimulating hormone and free thyroxine used to classify hypothyroidism and hyperthyroidism and to monitor replacement therapy; in neonates, interpretation must account for the postnatal TSH surge.

A reference curve plotting weight, length, and head circumference against age, used to detect faltering growth, short stature, or microcephaly; condition-specific charts exist for preterm infants and for syndromes such as Down syndrome.

A predicted adult height calculated from the parents' heights, adjusted by about 6.5 cm in the child's sex direction; comparing a child's projected height against this target helps distinguish familial from pathologic short stature.

Insufficient pituitary growth hormone causing slow linear growth, often with hypoglycemia in neonates or a small penis; diagnosis requires stimulation testing, and treatment is recombinant growth hormone.

Inadequate weight gain in infancy or early childhood, usually defined by falling across growth percentiles or weight below an expected range for age; causes span undernutrition, organic disease, and psychosocial adversity.

Feeding an infant only breast milk, without water, formula, or solids, for about the first 6 months; it reduces gastrointestinal and respiratory infection and supports the recommendation of vitamin D supplementation.

Insufficient vitamin D causing rickets in children, with bowing, rachitic rosary, and delayed closure of fontanelles; breastfed infants need supplementation, and treatment is oral vitamin D with calcium adequacy ensured.

A medium-vessel vasculitis of young children diagnosed by fever of at least 5 days plus conjunctivitis, mucosal change, rash, extremity change, and cervical lymphadenopathy; it threatens coronary artery aneurysms and is treated with intravenous immunoglobulin and aspirin.

Pooled human antibody given for immune replacement, Kawasaki disease, and immune thrombocytopenia; it is contraindicated in IgA deficiency because of anaphylaxis risk and can interfere with live vaccine responses.

Abnormal dilation of a coronary artery, a feared complication of Kawasaki disease that can thrombose or rupture; risk is reduced by timely immunoglobulin, and echocardiographic surveillance continues for weeks to years.

Bacterial throat infection of school-age children with sudden sore throat, fever, and exudate but usually cough and coryza absent; confirmatory rapid antigen or culture testing guides penicillin treatment to prevent rheumatic fever.

An autoimmune reaction days to weeks after group A streptococcal pharyngitis, diagnosed by Jones criteria with carditis, arthritis, chorea, rash, or nodules; it can leave permanent valvular disease, prevented by prompt antibiotic treatment.

Infection of the endocardial surface or a prosthetic valve, presenting with persistent fever and a new murmur; blood cultures guide therapy, and antibiotic prophylaxis is reserved for high-risk cardiac lesions before defined procedures.

Middle ear infection with bulging tympanic membrane, often after a viral upper respiratory infection; most cases in older children are observed, while young infants and severe cases receive antibiotics such as amoxicillin.

Viral lower respiratory infection, usually respiratory syncytial virus, in infants under 2 years, with coryza, wheeze, and crackles; management is supportive, as bronchodilators and corticosteroids do not alter outcome.

A monoclonal antibody given monthly during respiratory syncytial virus season to selected high-risk infants, such as those with prematurity or congenital heart disease, to reduce severe bronchiolitis hospitalization.

A clinical score assigning points for fever, absence of cough, tonsillar exudate, and tender anterior cervical nodes, used to estimate streptococcal pharyngitis probability and decide whether to test rather than treat empirically.

An acquired autoimmune disorder with isolated low platelets and mucocutaneous bleeding in an otherwise well child; most cases remit spontaneously, and treatment with steroids or immunoglobulin is reserved for significant bleeding.

Apparent survival gain produced by earlier diagnosis that does not actually postpone death; it can make a screening program look effective when the disease course is unchanged, so mortality rather than survival time is the fair outcome.

An experiment assigning participants by chance to intervention or control, the design best able to control confounding and support causal claims; randomization, allocation concealment, and blinding limit bias.

The reciprocal of the absolute risk reduction, giving how many patients must be treated for one additional favorable outcome; it translates trial results into clinical effort and depends on baseline risk.

A patient's or guardian's voluntary agreement to a procedure after receiving information on nature, risks, benefits, and alternatives, with capacity to decide; in pediatrics, assent of the child is sought alongside parental permission.

The legal and ethical benchmark for decisions made on behalf of a child who cannot decide, weighing benefits and burdens to choose the option most protective of the child's welfare rather than the parents' preferences.

The principle that competent adolescents may receive certain confidential services, such as sexual health or mental health care, with limits disclosed when safety is threatened; local law defines the exact scope.